Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.104806208delCA1869929422ABCA1c.4464+36del (n.4464+36del)
c.4470+36del (n.4470+36del)
c.4290+36del (n.4290+36del)
c.4545+36del (n.4545+36del)
c.4539+36del (n.4539+36del)
c.4107+36del (n.4107+36del)
c.4407+36del (n.4407+36del)
n.4858+36del
 dbSNP gnomAD v4
9g.104806207C=CA1869929434ABCA1c.4464+34G= (n.4464+34G=)
c.4470+34G= (n.4470+34G=)
c.4290+34G= (n.4290+34G=)
c.4545+34G= (n.4545+34G=)
c.4539+34G= (n.4539+34G=)
c.4107+34G= (n.4107+34G=)
c.4407+34G= (n.4407+34G=)
n.4858+34G=
9g.104806207C>TCA5168139ABCA1c.4464+34G>A (n.4464+34G>A)
c.4470+34G>A (n.4470+34G>A)
c.4290+34G>A (n.4290+34G>A)
c.4545+34G>A (n.4545+34G>A)
c.4539+34G>A (n.4539+34G>A)
c.4107+34G>A (n.4107+34G>A)
c.4407+34G>A (n.4407+34G>A)
n.4858+34G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104806208C>ACA1869929440ABCA1c.4464+33G>T (n.4464+33G>T)
c.4470+33G>T (n.4470+33G>T)
c.4290+33G>T (n.4290+33G>T)
c.4545+33G>T (n.4545+33G>T)
c.4539+33G>T (n.4539+33G>T)
c.4107+33G>T (n.4107+33G>T)
c.4407+33G>T (n.4407+33G>T)
n.4858+33G>T
 dbSNP gnomAD v4
9g.104806208C=CA1869929438ABCA1c.4464+33G= (n.4464+33G=)
c.4470+33G= (n.4470+33G=)
c.4290+33G= (n.4290+33G=)
c.4545+33G= (n.4545+33G=)
c.4539+33G= (n.4539+33G=)
c.4107+33G= (n.4107+33G=)
c.4407+33G= (n.4407+33G=)
n.4858+33G=
9g.104806208C>GCA5168140ABCA1c.4464+33G>C (n.4464+33G>C)
c.4470+33G>C (n.4470+33G>C)
c.4290+33G>C (n.4290+33G>C)
c.4545+33G>C (n.4545+33G>C)
c.4539+33G>C (n.4539+33G>C)
c.4107+33G>C (n.4107+33G>C)
c.4407+33G>C (n.4407+33G>C)
n.4858+33G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.104806208C>TCA1869929445ABCA1c.4464+33G>A (n.4464+33G>A)
c.4470+33G>A (n.4470+33G>A)
c.4290+33G>A (n.4290+33G>A)
c.4545+33G>A (n.4545+33G>A)
c.4539+33G>A (n.4539+33G>A)
c.4107+33G>A (n.4107+33G>A)
c.4407+33G>A (n.4407+33G>A)
n.4858+33G>A
 dbSNP gnomAD v4
9g.104806209T>GCA1869929463ABCA1c.4464+32A>C (n.4464+32A>C)
c.4470+32A>C (n.4470+32A>C)
c.4290+32A>C (n.4290+32A>C)
c.4545+32A>C (n.4545+32A>C)
c.4539+32A>C (n.4539+32A>C)
c.4107+32A>C (n.4107+32A>C)
c.4407+32A>C (n.4407+32A>C)
n.4858+32A>C
 dbSNP gnomAD v4
9g.104806209T=CA1869929465ABCA1c.4464+32A= (n.4464+32A=)
c.4470+32A= (n.4470+32A=)
c.4290+32A= (n.4290+32A=)
c.4545+32A= (n.4545+32A=)
c.4539+32A= (n.4539+32A=)
c.4107+32A= (n.4107+32A=)
c.4407+32A= (n.4407+32A=)
n.4858+32A=
9g.104806210T>CCA589835864ABCA1c.4464+31A>G (n.4464+31A>G)
c.4470+31A>G (n.4470+31A>G)
c.4290+31A>G (n.4290+31A>G)
c.4545+31A>G (n.4545+31A>G)
c.4539+31A>G (n.4539+31A>G)
c.4107+31A>G (n.4107+31A>G)
c.4407+31A>G (n.4407+31A>G)
n.4858+31A>G
 dbSNP gnomAD v2 gnomAD v4
9g.104806210T=CA1869929469ABCA1c.4464+31A= (n.4464+31A=)
c.4470+31A= (n.4470+31A=)
c.4290+31A= (n.4290+31A=)
c.4545+31A= (n.4545+31A=)
c.4539+31A= (n.4539+31A=)
c.4107+31A= (n.4107+31A=)
c.4407+31A= (n.4407+31A=)
n.4858+31A=
9g.104806212T>CCA5168141ABCA1c.4464+29A>G (n.4464+29A>G)
c.4470+29A>G (n.4470+29A>G)
c.4290+29A>G (n.4290+29A>G)
c.4545+29A>G (n.4545+29A>G)
c.4539+29A>G (n.4539+29A>G)
c.4107+29A>G (n.4107+29A>G)
c.4407+29A>G (n.4407+29A>G)
n.4858+29A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.104806212T=CA1869929476ABCA1c.4464+29A= (n.4464+29A=)
c.4470+29A= (n.4470+29A=)
c.4290+29A= (n.4290+29A=)
c.4545+29A= (n.4545+29A=)
c.4539+29A= (n.4539+29A=)
c.4107+29A= (n.4107+29A=)
c.4407+29A= (n.4407+29A=)
n.4858+29A=
9g.104806214C=CA1869929478ABCA1c.4464+27G= (n.4464+27G=)
c.4470+27G= (n.4470+27G=)
c.4290+27G= (n.4290+27G=)
c.4545+27G= (n.4545+27G=)
c.4539+27G= (n.4539+27G=)
c.4107+27G= (n.4107+27G=)
c.4407+27G= (n.4407+27G=)
n.4858+27G=
9g.104806214C>TCA1127653180ABCA1c.4464+27G>A (n.4464+27G>A)
c.4470+27G>A (n.4470+27G>A)
c.4290+27G>A (n.4290+27G>A)
c.4545+27G>A (n.4545+27G>A)
c.4539+27G>A (n.4539+27G>A)
c.4107+27G>A (n.4107+27G>A)
c.4407+27G>A (n.4407+27G>A)
n.4858+27G>A
 dbSNP gnomAD v3 gnomAD v4
9g.104806215C=CA1869929480ABCA1c.4464+26G= (n.4464+26G=)
c.4470+26G= (n.4470+26G=)
c.4290+26G= (n.4290+26G=)
c.4545+26G= (n.4545+26G=)
c.4539+26G= (n.4539+26G=)
c.4107+26G= (n.4107+26G=)
c.4407+26G= (n.4407+26G=)
n.4858+26G=
9g.104806215C>GCA5168142ABCA1c.4464+26G>C (n.4464+26G>C)
c.4470+26G>C (n.4470+26G>C)
c.4290+26G>C (n.4290+26G>C)
c.4545+26G>C (n.4545+26G>C)
c.4539+26G>C (n.4539+26G>C)
c.4107+26G>C (n.4107+26G>C)
c.4407+26G>C (n.4407+26G>C)
n.4858+26G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.104806216C>ACA2691051835ABCA1c.4464+25G>T (n.4464+25G>T)
c.4470+25G>T (n.4470+25G>T)
c.4290+25G>T (n.4290+25G>T)
c.4545+25G>T (n.4545+25G>T)
c.4539+25G>T (n.4539+25G>T)
c.4107+25G>T (n.4107+25G>T)
c.4407+25G>T (n.4407+25G>T)
n.4858+25G>T
 gnomAD v4
9g.104806217A>GCA2579406705ABCA1c.4464+24T>C (n.4464+24T>C)
c.4470+24T>C (n.4470+24T>C)
c.4290+24T>C (n.4290+24T>C)
c.4545+24T>C (n.4545+24T>C)
c.4539+24T>C (n.4539+24T>C)
c.4107+24T>C (n.4107+24T>C)
c.4407+24T>C (n.4407+24T>C)
n.4858+24T>C
9g.104806218A=CA1869929484ABCA1c.4464+23T= (n.4464+23T=)
c.4470+23T= (n.4470+23T=)
c.4290+23T= (n.4290+23T=)
c.4545+23T= (n.4545+23T=)
c.4539+23T= (n.4539+23T=)
c.4107+23T= (n.4107+23T=)
c.4407+23T= (n.4407+23T=)
n.4858+23T=
9g.104806218A>GCA197370826ABCA1c.4464+23T>C (n.4464+23T>C)
c.4470+23T>C (n.4470+23T>C)
c.4290+23T>C (n.4290+23T>C)
c.4545+23T>C (n.4545+23T>C)
c.4539+23T>C (n.4539+23T>C)
c.4107+23T>C (n.4107+23T>C)
c.4407+23T>C (n.4407+23T>C)
n.4858+23T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.104806219T>CCA5168143ABCA1c.4464+22A>G (n.4464+22A>G)
c.4470+22A>G (n.4470+22A>G)
c.4290+22A>G (n.4290+22A>G)
c.4545+22A>G (n.4545+22A>G)
c.4539+22A>G (n.4539+22A>G)
c.4107+22A>G (n.4107+22A>G)
c.4407+22A>G (n.4407+22A>G)
n.4858+22A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.104806219T=CA1869929489ABCA1c.4464+22A= (n.4464+22A=)
c.4470+22A= (n.4470+22A=)
c.4290+22A= (n.4290+22A=)
c.4545+22A= (n.4545+22A=)
c.4539+22A= (n.4539+22A=)
c.4107+22A= (n.4107+22A=)
c.4407+22A= (n.4407+22A=)
n.4858+22A=
9g.104806220C>ACA2691051836ABCA1c.4464+21G>T (n.4464+21G>T)
c.4470+21G>T (n.4470+21G>T)
c.4290+21G>T (n.4290+21G>T)
c.4545+21G>T (n.4545+21G>T)
c.4539+21G>T (n.4539+21G>T)
c.4107+21G>T (n.4107+21G>T)
c.4407+21G>T (n.4407+21G>T)
n.4858+21G>T
 gnomAD v4
9g.104806220C>TCA2691051837ABCA1c.4464+21G>A (n.4464+21G>A)
c.4470+21G>A (n.4470+21G>A)
c.4290+21G>A (n.4290+21G>A)
c.4545+21G>A (n.4545+21G>A)
c.4539+21G>A (n.4539+21G>A)
c.4107+21G>A (n.4107+21G>A)
c.4407+21G>A (n.4407+21G>A)
n.4858+21G>A
 gnomAD v4
9g.104806221A=CA1869929495ABCA1c.4464+20T= (n.4464+20T=)
c.4470+20T= (n.4470+20T=)
c.4290+20T= (n.4290+20T=)
c.4545+20T= (n.4545+20T=)
c.4539+20T= (n.4539+20T=)
c.4107+20T= (n.4107+20T=)
c.4407+20T= (n.4407+20T=)
n.4858+20T=
9g.104806221A>CCA1869929497ABCA1c.4464+20T>G (n.4464+20T>G)
c.4470+20T>G (n.4470+20T>G)
c.4290+20T>G (n.4290+20T>G)
c.4545+20T>G (n.4545+20T>G)
c.4539+20T>G (n.4539+20T>G)
c.4107+20T>G (n.4107+20T>G)
c.4407+20T>G (n.4407+20T>G)
n.4858+20T>G
 dbSNP
9g.104806221A>GCA2691051839ABCA1c.4464+20T>C (n.4464+20T>C)
c.4470+20T>C (n.4470+20T>C)
c.4290+20T>C (n.4290+20T>C)
c.4545+20T>C (n.4545+20T>C)
c.4539+20T>C (n.4539+20T>C)
c.4107+20T>C (n.4107+20T>C)
c.4407+20T>C (n.4407+20T>C)
n.4858+20T>C
 gnomAD v4
9g.104806221A>TCA2691051838ABCA1c.4464+20T>A (n.4464+20T>A)
c.4470+20T>A (n.4470+20T>A)
c.4290+20T>A (n.4290+20T>A)
c.4545+20T>A (n.4545+20T>A)
c.4539+20T>A (n.4539+20T>A)
c.4107+20T>A (n.4107+20T>A)
c.4407+20T>A (n.4407+20T>A)
n.4858+20T>A
 gnomAD v4
9g.104806221_104806222delinsACCA1869929492ABCA1c.4464+19_4464+20delinsGT (n.4464+19_4464+20delinsGT)
c.4470+19_4470+20delinsGT (n.4470+19_4470+20delinsGT)
c.4290+19_4290+20delinsGT (n.4290+19_4290+20delinsGT)
c.4545+19_4545+20delinsGT (n.4545+19_4545+20delinsGT)
c.4539+19_4539+20delinsGT (n.4539+19_4539+20delinsGT)
c.4107+19_4107+20delinsGT (n.4107+19_4107+20delinsGT)
c.4407+19_4407+20delinsGT (n.4407+19_4407+20delinsGT)
n.4858+19_4858+20delinsGT
9g.104806222C>ACA1869929506ABCA1c.4464+19G>T (n.4464+19G>T)
c.4470+19G>T (n.4470+19G>T)
c.4290+19G>T (n.4290+19G>T)
c.4545+19G>T (n.4545+19G>T)
c.4539+19G>T (n.4539+19G>T)
c.4107+19G>T (n.4107+19G>T)
c.4407+19G>T (n.4407+19G>T)
n.4858+19G>T
 ClinVar dbSNP gnomAD v4
9g.104806222C=CA1869929510ABCA1c.4464+19G= (n.4464+19G=)
c.4470+19G= (n.4470+19G=)
c.4290+19G= (n.4290+19G=)
c.4545+19G= (n.4545+19G=)
c.4539+19G= (n.4539+19G=)
c.4107+19G= (n.4107+19G=)
c.4407+19G= (n.4407+19G=)
n.4858+19G=
9g.104806226dupCA2691051840ABCA1c.4464+19dup (n.4464+19dup)
c.4470+19dup (n.4470+19dup)
c.4290+19dup (n.4290+19dup)
c.4545+19dup (n.4545+19dup)
c.4539+19dup (n.4539+19dup)
c.4107+19dup (n.4107+19dup)
c.4407+19dup (n.4407+19dup)
n.4858+19dup
 gnomAD v4
9g.104806226delCA5168144ABCA1c.4464+19del (n.4464+19del)
c.4470+19del (n.4470+19del)
c.4290+19del (n.4290+19del)
c.4545+19del (n.4545+19del)
c.4539+19del (n.4539+19del)
c.4107+19del (n.4107+19del)
c.4407+19del (n.4407+19del)
n.4858+19del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104806223C>ACA2720365883ABCA1c.4464+18G>T (n.4464+18G>T)
c.4470+18G>T (n.4470+18G>T)
c.4290+18G>T (n.4290+18G>T)
c.4545+18G>T (n.4545+18G>T)
c.4539+18G>T (n.4539+18G>T)
c.4107+18G>T (n.4107+18G>T)
c.4407+18G>T (n.4407+18G>T)
n.4858+18G>T
 dbSNP
9g.104806223C>TCA2691051841ABCA1c.4464+18G>A (n.4464+18G>A)
c.4470+18G>A (n.4470+18G>A)
c.4290+18G>A (n.4290+18G>A)
c.4545+18G>A (n.4545+18G>A)
c.4539+18G>A (n.4539+18G>A)
c.4107+18G>A (n.4107+18G>A)
c.4407+18G>A (n.4407+18G>A)
n.4858+18G>A
 gnomAD v4
9g.104806224C>ACA589835875ABCA1c.4464+17G>T (n.4464+17G>T)
c.4470+17G>T (n.4470+17G>T)
c.4290+17G>T (n.4290+17G>T)
c.4545+17G>T (n.4545+17G>T)
c.4539+17G>T (n.4539+17G>T)
c.4107+17G>T (n.4107+17G>T)
c.4407+17G>T (n.4407+17G>T)
n.4858+17G>T
 dbSNP gnomAD v2 gnomAD v4
9g.104806224C=CA1869929517ABCA1c.4464+17G= (n.4464+17G=)
c.4470+17G= (n.4470+17G=)
c.4290+17G= (n.4290+17G=)
c.4545+17G= (n.4545+17G=)
c.4539+17G= (n.4539+17G=)
c.4107+17G= (n.4107+17G=)
c.4407+17G= (n.4407+17G=)
n.4858+17G=
9g.104806225C>ACA1869929521ABCA1c.4464+16G>T (n.4464+16G>T)
c.4470+16G>T (n.4470+16G>T)
c.4290+16G>T (n.4290+16G>T)
c.4545+16G>T (n.4545+16G>T)
c.4539+16G>T (n.4539+16G>T)
c.4107+16G>T (n.4107+16G>T)
c.4407+16G>T (n.4407+16G>T)
n.4858+16G>T
 dbSNP
9g.104806225C=CA1869929519ABCA1c.4464+16G= (n.4464+16G=)
c.4470+16G= (n.4470+16G=)
c.4290+16G= (n.4290+16G=)
c.4545+16G= (n.4545+16G=)
c.4539+16G= (n.4539+16G=)
c.4107+16G= (n.4107+16G=)
c.4407+16G= (n.4407+16G=)
n.4858+16G=
9g.104806225C>TCA589835877ABCA1c.4464+16G>A (n.4464+16G>A)
c.4470+16G>A (n.4470+16G>A)
c.4290+16G>A (n.4290+16G>A)
c.4545+16G>A (n.4545+16G>A)
c.4539+16G>A (n.4539+16G>A)
c.4107+16G>A (n.4107+16G>A)
c.4407+16G>A (n.4407+16G>A)
n.4858+16G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.104806226C>ACA589835879ABCA1c.4464+15G>T (n.4464+15G>T)
c.4470+15G>T (n.4470+15G>T)
c.4290+15G>T (n.4290+15G>T)
c.4545+15G>T (n.4545+15G>T)
c.4539+15G>T (n.4539+15G>T)
c.4107+15G>T (n.4107+15G>T)
c.4407+15G>T (n.4407+15G>T)
n.4858+15G>T
 dbSNP gnomAD v2 gnomAD v4
9g.104806226C=CA1869929523ABCA1c.4464+15G= (n.4464+15G=)
c.4470+15G= (n.4470+15G=)
c.4290+15G= (n.4290+15G=)
c.4545+15G= (n.4545+15G=)
c.4539+15G= (n.4539+15G=)
c.4107+15G= (n.4107+15G=)
c.4407+15G= (n.4407+15G=)
n.4858+15G=
9g.104806226C>GCA1869929525ABCA1c.4464+15G>C (n.4464+15G>C)
c.4470+15G>C (n.4470+15G>C)
c.4290+15G>C (n.4290+15G>C)
c.4545+15G>C (n.4545+15G>C)
c.4539+15G>C (n.4539+15G>C)
c.4107+15G>C (n.4107+15G>C)
c.4407+15G>C (n.4407+15G>C)
n.4858+15G>C
 dbSNP
9g.104806227T>CCA197370844ABCA1c.4464+14A>G (n.4464+14A>G)
c.4470+14A>G (n.4470+14A>G)
c.4290+14A>G (n.4290+14A>G)
c.4545+14A>G (n.4545+14A>G)
c.4539+14A>G (n.4539+14A>G)
c.4107+14A>G (n.4107+14A>G)
c.4407+14A>G (n.4407+14A>G)
n.4858+14A>G
 dbSNP
9g.104806227T>GCA2691051842ABCA1c.4464+14A>C (n.4464+14A>C)
c.4470+14A>C (n.4470+14A>C)
c.4290+14A>C (n.4290+14A>C)
c.4545+14A>C (n.4545+14A>C)
c.4539+14A>C (n.4539+14A>C)
c.4107+14A>C (n.4107+14A>C)
c.4407+14A>C (n.4407+14A>C)
n.4858+14A>C
 gnomAD v4
9g.104806227T=CA1869929528ABCA1c.4464+14A= (n.4464+14A=)
c.4470+14A= (n.4470+14A=)
c.4290+14A= (n.4290+14A=)
c.4545+14A= (n.4545+14A=)
c.4539+14A= (n.4539+14A=)
c.4107+14A= (n.4107+14A=)
c.4407+14A= (n.4407+14A=)
n.4858+14A=
9g.104806229A=CA1869929536ABCA1c.4464+12T= (n.4464+12T=)
c.4470+12T= (n.4470+12T=)
c.4290+12T= (n.4290+12T=)
c.4545+12T= (n.4545+12T=)
c.4539+12T= (n.4539+12T=)
c.4107+12T= (n.4107+12T=)
c.4407+12T= (n.4407+12T=)
n.4858+12T=
9g.104806229A>GCA5168145ABCA1c.4464+12T>C (n.4464+12T>C)
c.4470+12T>C (n.4470+12T>C)
c.4290+12T>C (n.4290+12T>C)
c.4545+12T>C (n.4545+12T>C)
c.4539+12T>C (n.4539+12T>C)
c.4107+12T>C (n.4107+12T>C)
c.4407+12T>C (n.4407+12T>C)
n.4858+12T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104806234G>ACA5168146ABCA1c.4464+7C>T (n.4464+7C>T)
c.4470+7C>T (n.4470+7C>T)
c.4290+7C>T (n.4290+7C>T)
c.4545+7C>T (n.4545+7C>T)
c.4539+7C>T (n.4539+7C>T)
c.4107+7C>T (n.4107+7C>T)
c.4407+7C>T (n.4407+7C>T)
n.4858+7C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.104806234G=CA1869929541ABCA1c.4464+7C= (n.4464+7C=)
c.4470+7C= (n.4470+7C=)
c.4290+7C= (n.4290+7C=)
c.4545+7C= (n.4545+7C=)
c.4539+7C= (n.4539+7C=)
c.4107+7C= (n.4107+7C=)
c.4407+7C= (n.4407+7C=)
n.4858+7C=
9g.104806236C=CA1869929550ABCA1c.4464+5G= (n.4464+5G=)
c.4470+5G= (n.4470+5G=)
c.4290+5G= (n.4290+5G=)
c.4545+5G= (n.4545+5G=)
c.4539+5G= (n.4539+5G=)
c.4107+5G= (n.4107+5G=)
c.4407+5G= (n.4407+5G=)
n.4858+5G=
9g.104806236C>TCA589835887ABCA1c.4464+5G>A (n.4464+5G>A)
c.4470+5G>A (n.4470+5G>A)
c.4290+5G>A (n.4290+5G>A)
c.4545+5G>A (n.4545+5G>A)
c.4539+5G>A (n.4539+5G>A)
c.4107+5G>A (n.4107+5G>A)
c.4407+5G>A (n.4407+5G>A)
n.4858+5G>A
 dbSNP gnomAD v2 gnomAD v4
9g.104806237T>CCA2691051843ABCA1c.4464+4A>G (n.4464+4A>G)
c.4470+4A>G (n.4470+4A>G)
c.4290+4A>G (n.4290+4A>G)
c.4545+4A>G (n.4545+4A>G)
c.4539+4A>G (n.4539+4A>G)
c.4107+4A>G (n.4107+4A>G)
c.4407+4A>G (n.4407+4A>G)
n.4858+4A>G
 gnomAD v4
9g.104806238C=CA1869929559ABCA1c.4464+3G= (n.4464+3G=)
c.4470+3G= (n.4470+3G=)
c.4290+3G= (n.4290+3G=)
c.4545+3G= (n.4545+3G=)
c.4539+3G= (n.4539+3G=)
c.4107+3G= (n.4107+3G=)
c.4407+3G= (n.4407+3G=)
n.4858+3G=
9g.104806238C>GCA5168147ABCA1c.4464+3G>C (n.4464+3G>C)
c.4470+3G>C (n.4470+3G>C)
c.4290+3G>C (n.4290+3G>C)
c.4545+3G>C (n.4545+3G>C)
c.4539+3G>C (n.4539+3G>C)
c.4107+3G>C (n.4107+3G>C)
c.4407+3G>C (n.4407+3G>C)
n.4858+3G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104806238C>TCA1869929561ABCA1c.4464+3G>A (n.4464+3G>A)
c.4470+3G>A (n.4470+3G>A)
c.4290+3G>A (n.4290+3G>A)
c.4545+3G>A (n.4545+3G>A)
c.4539+3G>A (n.4539+3G>A)
c.4107+3G>A (n.4107+3G>A)
c.4407+3G>A (n.4407+3G>A)
n.4858+3G>A
 dbSNP gnomAD v4
9g.104806239A=CA1869929566ABCA1c.4464+2T= (n.4464+2T=)
c.4470+2T= (n.4470+2T=)
c.4290+2T= (n.4290+2T=)
c.4545+2T= (n.4545+2T=)
c.4539+2T= (n.4539+2T=)
c.4107+2T= (n.4107+2T=)
c.4407+2T= (n.4407+2T=)
n.4858+2T=
9g.104806239A>CCA374315441ABCA1c.4464+2T>G (n.4464+2T>G)
c.4470+2T>G (n.4470+2T>G)
c.4290+2T>G (n.4290+2T>G)
c.4545+2T>G (n.4545+2T>G)
c.4539+2T>G (n.4539+2T>G)
c.4107+2T>G (n.4107+2T>G)
c.4407+2T>G (n.4407+2T>G)
n.4858+2T>G
9g.104806239A>GCA374315442ABCA1c.4464+2T>C (n.4464+2T>C)
c.4470+2T>C (n.4470+2T>C)
c.4290+2T>C (n.4290+2T>C)
c.4545+2T>C (n.4545+2T>C)
c.4539+2T>C (n.4539+2T>C)
c.4107+2T>C (n.4107+2T>C)
c.4407+2T>C (n.4407+2T>C)
n.4858+2T>C
9g.104806239A>TCA374315443ABCA1c.4464+2T>A (n.4464+2T>A)
c.4470+2T>A (n.4470+2T>A)
c.4290+2T>A (n.4290+2T>A)
c.4545+2T>A (n.4545+2T>A)
c.4539+2T>A (n.4539+2T>A)
c.4107+2T>A (n.4107+2T>A)
c.4407+2T>A (n.4407+2T>A)
n.4858+2T>A
 dbSNP gnomAD v2 gnomAD v4
9g.104806240C>ACA374315446ABCA1c.4464+1G>T (n.4464+1G>T)
c.4470+1G>T (n.4470+1G>T)
c.4290+1G>T (n.4290+1G>T)
c.4545+1G>T (n.4545+1G>T)
c.4539+1G>T (n.4539+1G>T)
c.4107+1G>T (n.4107+1G>T)
c.4407+1G>T (n.4407+1G>T)
n.4858+1G>T
9g.104806240C>GCA374315445ABCA1c.4464+1G>C (n.4464+1G>C)
c.4470+1G>C (n.4470+1G>C)
c.4290+1G>C (n.4290+1G>C)
c.4545+1G>C (n.4545+1G>C)
c.4539+1G>C (n.4539+1G>C)
c.4107+1G>C (n.4107+1G>C)
c.4407+1G>C (n.4407+1G>C)
n.4858+1G>C
9g.104806240C>TCA374315444ABCA1c.4464+1G>A (n.4464+1G>A)
c.4470+1G>A (n.4470+1G>A)
c.4290+1G>A (n.4290+1G>A)
c.4545+1G>A (n.4545+1G>A)
c.4539+1G>A (n.4539+1G>A)
c.4107+1G>A (n.4107+1G>A)
c.4407+1G>A (n.4407+1G>A)
n.4858+1G>A
9g.104806241T>ACA374315447ABCA1c.4464A>T (p.Gln1488His)
c.4470A>T (p.Gln1490His)
c.4290A>T (p.Gln1430His)
c.4545A>T (p.Gln1515His)
c.4539A>T (p.Gln1513His)
c.4107A>T (p.Gln1369His)
c.4407A>T (p.Gln1469His)
n.4858A>T
9g.104806241T>CCA466504266ABCA1c.4464A>G (p.Gln1488=)
c.4470A>G (p.Gln1490=)
c.4290A>G (p.Gln1430=)
c.4545A>G (p.Gln1515=)
c.4539A>G (p.Gln1513=)
c.4107A>G (p.Gln1369=)
c.4407A>G (p.Gln1469=)
n.4858A>G
 COSMIC
9g.104806241T>GCA374315448ABCA1c.4464A>C (p.Gln1488His)
c.4470A>C (p.Gln1490His)
c.4290A>C (p.Gln1430His)
c.4545A>C (p.Gln1515His)
c.4539A>C (p.Gln1513His)
c.4107A>C (p.Gln1369His)
c.4407A>C (p.Gln1469His)
n.4858A>C
9g.104806242T>ACA374315449ABCA1c.4463A>T (p.Gln1488Leu)
c.4469A>T (p.Gln1490Leu)
c.4289A>T (p.Gln1430Leu)
c.4544A>T (p.Gln1515Leu)
c.4538A>T (p.Gln1513Leu)
c.4106A>T (p.Gln1369Leu)
c.4406A>T (p.Gln1469Leu)
n.4857A>T
9g.104806242T>CCA374315450ABCA1c.4463A>G (p.Gln1488Arg)
c.4469A>G (p.Gln1490Arg)
c.4289A>G (p.Gln1430Arg)
c.4544A>G (p.Gln1515Arg)
c.4538A>G (p.Gln1513Arg)
c.4106A>G (p.Gln1369Arg)
c.4406A>G (p.Gln1469Arg)
n.4857A>G
 gnomAD v4
9g.104806242T>GCA374315451ABCA1c.4463A>C (p.Gln1488Pro)
c.4469A>C (p.Gln1490Pro)
c.4289A>C (p.Gln1430Pro)
c.4544A>C (p.Gln1515Pro)
c.4538A>C (p.Gln1513Pro)
c.4106A>C (p.Gln1369Pro)
c.4406A>C (p.Gln1469Pro)
n.4857A>C
9g.104806243G>ACA197370847ABCA1c.4462C>T (p.Gln1488Ter)
c.4468C>T (p.Gln1490Ter)
c.4288C>T (p.Gln1430Ter)
c.4543C>T (p.Gln1515Ter)
c.4537C>T (p.Gln1513Ter)
c.4105C>T (p.Gln1369Ter)
c.4405C>T (p.Gln1469Ter)
n.4856C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.104806243G>CCA374315452ABCA1c.4462C>G (p.Gln1488Glu)
c.4468C>G (p.Gln1490Glu)
c.4288C>G (p.Gln1430Glu)
c.4543C>G (p.Gln1515Glu)
c.4537C>G (p.Gln1513Glu)
c.4105C>G (p.Gln1369Glu)
c.4405C>G (p.Gln1469Glu)
n.4856C>G
9g.104806243G=CA1869929572ABCA1c.4462C= (p.Gln1488=)
c.4468C= (p.Gln1490=)
c.4288C= (p.Gln1430=)
c.4543C= (p.Gln1515=)
c.4537C= (p.Gln1513=)
c.4105C= (p.Gln1369=)
c.4405C= (p.Gln1469=)
n.4856C=
9g.104806243G>TCA374315453ABCA1c.4462C>A (p.Gln1488Lys)
c.4468C>A (p.Gln1490Lys)
c.4288C>A (p.Gln1430Lys)
c.4543C>A (p.Gln1515Lys)
c.4537C>A (p.Gln1513Lys)
c.4105C>A (p.Gln1369Lys)
c.4405C>A (p.Gln1469Lys)
n.4856C>A
 COSMIC
9g.104806244T>ACA466504267ABCA1c.4461A>T (p.Pro1487=)
c.4467A>T (p.Pro1489=)
c.4287A>T (p.Pro1429=)
c.4542A>T (p.Pro1514=)
c.4536A>T (p.Pro1512=)
c.4104A>T (p.Pro1368=)
c.4404A>T (p.Pro1468=)
n.4855A>T
9g.104806244T>CCA466504268ABCA1c.4461A>G (p.Pro1487=)
c.4467A>G (p.Pro1489=)
c.4287A>G (p.Pro1429=)
c.4542A>G (p.Pro1514=)
c.4536A>G (p.Pro1512=)
c.4104A>G (p.Pro1368=)
c.4404A>G (p.Pro1468=)
n.4855A>G
 dbSNP gnomAD v2 gnomAD v4
9g.104806244T>GCA466504269ABCA1c.4461A>C (p.Pro1487=)
c.4467A>C (p.Pro1489=)
c.4287A>C (p.Pro1429=)
c.4542A>C (p.Pro1514=)
c.4536A>C (p.Pro1512=)
c.4104A>C (p.Pro1368=)
c.4404A>C (p.Pro1468=)
n.4855A>C
9g.104806244T=CA1869929575ABCA1c.4461A= (p.Pro1487=)
c.4467A= (p.Pro1489=)
c.4287A= (p.Pro1429=)
c.4542A= (p.Pro1514=)
c.4536A= (p.Pro1512=)
c.4104A= (p.Pro1368=)
c.4404A= (p.Pro1468=)
n.4855A=
9g.104806245G>ACA374315454ABCA1c.4460C>T (p.Pro1487Leu)
c.4466C>T (p.Pro1489Leu)
c.4286C>T (p.Pro1429Leu)
c.4541C>T (p.Pro1514Leu)
c.4535C>T (p.Pro1512Leu)
c.4103C>T (p.Pro1368Leu)
c.4403C>T (p.Pro1468Leu)
n.4854C>T
 gnomAD v4
9g.104806245G>CCA374315455ABCA1c.4460C>G (p.Pro1487Arg)
c.4466C>G (p.Pro1489Arg)
c.4286C>G (p.Pro1429Arg)
c.4541C>G (p.Pro1514Arg)
c.4535C>G (p.Pro1512Arg)
c.4103C>G (p.Pro1368Arg)
c.4403C>G (p.Pro1468Arg)
n.4854C>G
9g.104806245G>TCA374315456ABCA1c.4460C>A (p.Pro1487Gln)
c.4466C>A (p.Pro1489Gln)
c.4286C>A (p.Pro1429Gln)
c.4541C>A (p.Pro1514Gln)
c.4535C>A (p.Pro1512Gln)
c.4103C>A (p.Pro1368Gln)
c.4403C>A (p.Pro1468Gln)
n.4854C>A
9g.104806246G>ACA374315457ABCA1c.4459C>T (p.Pro1487Ser)
c.4465C>T (p.Pro1489Ser)
c.4285C>T (p.Pro1429Ser)
c.4540C>T (p.Pro1514Ser)
c.4534C>T (p.Pro1512Ser)
c.4102C>T (p.Pro1368Ser)
c.4402C>T (p.Pro1468Ser)
n.4853C>T
9g.104806246G>CCA374315458ABCA1c.4459C>G (p.Pro1487Ala)
c.4465C>G (p.Pro1489Ala)
c.4285C>G (p.Pro1429Ala)
c.4540C>G (p.Pro1514Ala)
c.4534C>G (p.Pro1512Ala)
c.4102C>G (p.Pro1368Ala)
c.4402C>G (p.Pro1468Ala)
n.4853C>G
9g.104806246G>TCA374315459ABCA1c.4459C>A (p.Pro1487Thr)
c.4465C>A (p.Pro1489Thr)
c.4285C>A (p.Pro1429Thr)
c.4540C>A (p.Pro1514Thr)
c.4534C>A (p.Pro1512Thr)
c.4102C>A (p.Pro1368Thr)
c.4402C>A (p.Pro1468Thr)
n.4853C>A
9g.104806247A>CCA466504270ABCA1c.4458T>G (p.Pro1486=)
c.4464T>G (p.Pro1488=)
c.4284T>G (p.Pro1428=)
c.4539T>G (p.Pro1513=)
c.4533T>G (p.Pro1511=)
c.4101T>G (p.Pro1367=)
c.4401T>G (p.Pro1467=)
n.4852T>G
9g.104806247A>GCA466504271ABCA1c.4458T>C (p.Pro1486=)
c.4464T>C (p.Pro1488=)
c.4284T>C (p.Pro1428=)
c.4539T>C (p.Pro1513=)
c.4533T>C (p.Pro1511=)
c.4101T>C (p.Pro1367=)
c.4401T>C (p.Pro1467=)
n.4852T>C
9g.104806247A>TCA466504272ABCA1c.4458T>A (p.Pro1486=)
c.4464T>A (p.Pro1488=)
c.4284T>A (p.Pro1428=)
c.4539T>A (p.Pro1513=)
c.4533T>A (p.Pro1511=)
c.4101T>A (p.Pro1367=)
c.4401T>A (p.Pro1467=)
n.4852T>A
9g.104806248G>ACA374315461ABCA1c.4457C>T (p.Pro1486Leu)
c.4463C>T (p.Pro1488Leu)
c.4283C>T (p.Pro1428Leu)
c.4538C>T (p.Pro1513Leu)
c.4532C>T (p.Pro1511Leu)
c.4100C>T (p.Pro1367Leu)
c.4400C>T (p.Pro1467Leu)
n.4851C>T
 COSMIC
9g.104806248G>CCA374315462ABCA1c.4457C>G (p.Pro1486Arg)
c.4463C>G (p.Pro1488Arg)
c.4283C>G (p.Pro1428Arg)
c.4538C>G (p.Pro1513Arg)
c.4532C>G (p.Pro1511Arg)
c.4100C>G (p.Pro1367Arg)
c.4400C>G (p.Pro1467Arg)
n.4851C>G
9g.104806248G>TCA374315460ABCA1c.4457C>A (p.Pro1486His)
c.4463C>A (p.Pro1488His)
c.4283C>A (p.Pro1428His)
c.4538C>A (p.Pro1513His)
c.4532C>A (p.Pro1511His)
c.4100C>A (p.Pro1367His)
c.4400C>A (p.Pro1467His)
n.4851C>A
9g.104806249G>ACA197370848ABCA1c.4456C>T (p.Pro1486Ser)
c.4462C>T (p.Pro1488Ser)
c.4282C>T (p.Pro1428Ser)
c.4537C>T (p.Pro1513Ser)
c.4531C>T (p.Pro1511Ser)
c.4099C>T (p.Pro1367Ser)
c.4399C>T (p.Pro1467Ser)
n.4850C>T
 dbSNP
9g.104806249G>CCA374315463ABCA1c.4456C>G (p.Pro1486Ala)
c.4462C>G (p.Pro1488Ala)
c.4282C>G (p.Pro1428Ala)
c.4537C>G (p.Pro1513Ala)
c.4531C>G (p.Pro1511Ala)
c.4099C>G (p.Pro1367Ala)
c.4399C>G (p.Pro1467Ala)
n.4850C>G
 dbSNP gnomAD v3 gnomAD v4
9g.104806249G=CA1869929582ABCA1c.4456C= (p.Pro1486=)
c.4462C= (p.Pro1488=)
c.4282C= (p.Pro1428=)
c.4537C= (p.Pro1513=)
c.4531C= (p.Pro1511=)
c.4099C= (p.Pro1367=)
c.4399C= (p.Pro1467=)
n.4850C=
9g.104806249G>TCA374315464ABCA1c.4456C>A (p.Pro1486Thr)
c.4462C>A (p.Pro1488Thr)
c.4282C>A (p.Pro1428Thr)
c.4537C>A (p.Pro1513Thr)
c.4531C>A (p.Pro1511Thr)
c.4099C>A (p.Pro1367Thr)
c.4399C>A (p.Pro1467Thr)
n.4850C>A
9g.104806250A>CCA466504273ABCA1c.4455T>G (p.Pro1485=)
c.4461T>G (p.Pro1487=)
c.4281T>G (p.Pro1427=)
c.4536T>G (p.Pro1512=)
c.4530T>G (p.Pro1510=)
c.4098T>G (p.Pro1366=)
c.4398T>G (p.Pro1466=)
n.4849T>G
9g.104806250A>GCA466504274ABCA1c.4455T>C (p.Pro1485=)
c.4461T>C (p.Pro1487=)
c.4281T>C (p.Pro1427=)
c.4536T>C (p.Pro1512=)
c.4530T>C (p.Pro1510=)
c.4098T>C (p.Pro1366=)
c.4398T>C (p.Pro1466=)
n.4849T>C
9g.104806250A>TCA466504275ABCA1c.4455T>A (p.Pro1485=)
c.4461T>A (p.Pro1487=)
c.4281T>A (p.Pro1427=)
c.4536T>A (p.Pro1512=)
c.4530T>A (p.Pro1510=)
c.4098T>A (p.Pro1366=)
c.4398T>A (p.Pro1466=)
n.4849T>A
9g.104806251G>ACA374315465ABCA1c.4454C>T (p.Pro1485Leu)
c.4460C>T (p.Pro1487Leu)
c.4280C>T (p.Pro1427Leu)
c.4535C>T (p.Pro1512Leu)
c.4529C>T (p.Pro1510Leu)
c.4097C>T (p.Pro1366Leu)
c.4397C>T (p.Pro1466Leu)
n.4848C>T
9g.104806251G>CCA374315466ABCA1c.4454C>G (p.Pro1485Arg)
c.4460C>G (p.Pro1487Arg)
c.4280C>G (p.Pro1427Arg)
c.4535C>G (p.Pro1512Arg)
c.4529C>G (p.Pro1510Arg)
c.4097C>G (p.Pro1366Arg)
c.4397C>G (p.Pro1466Arg)
n.4848C>G
9g.104806251G>TCA374315467ABCA1c.4454C>A (p.Pro1485His)
c.4460C>A (p.Pro1487His)
c.4280C>A (p.Pro1427His)
c.4535C>A (p.Pro1512His)
c.4529C>A (p.Pro1510His)
c.4097C>A (p.Pro1366His)
c.4397C>A (p.Pro1466His)
n.4848C>A
9g.104806252G>ACA374315468ABCA1c.4453C>T (p.Pro1485Ser)
c.4459C>T (p.Pro1487Ser)
c.4279C>T (p.Pro1427Ser)
c.4534C>T (p.Pro1512Ser)
c.4528C>T (p.Pro1510Ser)
c.4096C>T (p.Pro1366Ser)
c.4396C>T (p.Pro1466Ser)
n.4847C>T
 dbSNP gnomAD v3 gnomAD v4
9g.104806252G>CCA374315469ABCA1c.4453C>G (p.Pro1485Ala)
c.4459C>G (p.Pro1487Ala)
c.4279C>G (p.Pro1427Ala)
c.4534C>G (p.Pro1512Ala)
c.4528C>G (p.Pro1510Ala)
c.4096C>G (p.Pro1366Ala)
c.4396C>G (p.Pro1466Ala)
n.4847C>G
9g.104806252G=CA1869929588ABCA1c.4453C= (p.Pro1485=)
c.4459C= (p.Pro1487=)
c.4279C= (p.Pro1427=)
c.4534C= (p.Pro1512=)
c.4528C= (p.Pro1510=)
c.4096C= (p.Pro1366=)
c.4396C= (p.Pro1466=)
n.4847C=
9g.104806252G>TCA374315470ABCA1c.4453C>A (p.Pro1485Thr)
c.4459C>A (p.Pro1487Thr)
c.4279C>A (p.Pro1427Thr)
c.4534C>A (p.Pro1512Thr)
c.4528C>A (p.Pro1510Thr)
c.4096C>A (p.Pro1366Thr)
c.4396C>A (p.Pro1466Thr)
n.4847C>A
9g.104806253C>ACA466504279ABCA1c.4452G>T (p.Leu1484=)
c.4458G>T (p.Leu1486=)
c.4278G>T (p.Leu1426=)
c.4533G>T (p.Leu1511=)
c.4527G>T (p.Leu1509=)
c.4095G>T (p.Leu1365=)
c.4395G>T (p.Leu1465=)
n.4846G>T
9g.104806253C>GCA466504280ABCA1c.4452G>C (p.Leu1484=)
c.4458G>C (p.Leu1486=)
c.4278G>C (p.Leu1426=)
c.4533G>C (p.Leu1511=)
c.4527G>C (p.Leu1509=)
c.4095G>C (p.Leu1365=)
c.4395G>C (p.Leu1465=)
n.4846G>C
9g.104806253C>TCA466504281ABCA1c.4452G>A (p.Leu1484=)
c.4458G>A (p.Leu1486=)
c.4278G>A (p.Leu1426=)
c.4533G>A (p.Leu1511=)
c.4527G>A (p.Leu1509=)
c.4095G>A (p.Leu1365=)
c.4395G>A (p.Leu1465=)
n.4846G>A
9g.104806254A>CCA374315471ABCA1c.4451T>G (p.Leu1484Arg)
c.4457T>G (p.Leu1486Arg)
c.4277T>G (p.Leu1426Arg)
c.4532T>G (p.Leu1511Arg)
c.4526T>G (p.Leu1509Arg)
c.4094T>G (p.Leu1365Arg)
c.4394T>G (p.Leu1465Arg)
n.4845T>G
9g.104806254A>GCA374315472ABCA1c.4451T>C (p.Leu1484Pro)
c.4457T>C (p.Leu1486Pro)
c.4277T>C (p.Leu1426Pro)
c.4532T>C (p.Leu1511Pro)
c.4526T>C (p.Leu1509Pro)
c.4094T>C (p.Leu1365Pro)
c.4394T>C (p.Leu1465Pro)
n.4845T>C
9g.104806254A>TCA374315473ABCA1c.4451T>A (p.Leu1484Gln)
c.4457T>A (p.Leu1486Gln)
c.4277T>A (p.Leu1426Gln)
c.4532T>A (p.Leu1511Gln)
c.4526T>A (p.Leu1509Gln)
c.4094T>A (p.Leu1365Gln)
c.4394T>A (p.Leu1465Gln)
n.4845T>A
9g.104806255G>ACA466504284ABCA1c.4450C>T (p.Leu1484=)
c.4456C>T (p.Leu1486=)
c.4276C>T (p.Leu1426=)
c.4531C>T (p.Leu1511=)
c.4525C>T (p.Leu1509=)
c.4093C>T (p.Leu1365=)
c.4393C>T (p.Leu1465=)
n.4844C>T
9g.104806255G>CCA374315474ABCA1c.4450C>G (p.Leu1484Val)
c.4456C>G (p.Leu1486Val)
c.4276C>G (p.Leu1426Val)
c.4531C>G (p.Leu1511Val)
c.4525C>G (p.Leu1509Val)
c.4093C>G (p.Leu1365Val)
c.4393C>G (p.Leu1465Val)
n.4844C>G
 gnomAD v4
9g.104806255G>TCA374315475ABCA1c.4450C>A (p.Leu1484Met)
c.4456C>A (p.Leu1486Met)
c.4276C>A (p.Leu1426Met)
c.4531C>A (p.Leu1511Met)
c.4525C>A (p.Leu1509Met)
c.4093C>A (p.Leu1365Met)
c.4393C>A (p.Leu1465Met)
n.4844C>A
9g.104806255_104806256delinsGCCA1869929595ABCA1c.4449_4450delinsGC (p.Gly1483=)
c.4455_4456delinsGC (p.Gly1485=)
c.4275_4276delinsGC (p.Gly1425=)
c.4530_4531delinsGC (p.Gly1510=)
c.4524_4525delinsGC (p.Gly1508=)
c.4092_4093delinsGC (p.Gly1364=)
c.4392_4393delinsGC (p.Gly1464=)
n.4843_4844delinsGC
9g.104806256C>ACA5168148ABCA1c.4449G>T (p.Gly1483=)
c.4455G>T (p.Gly1485=)
c.4275G>T (p.Gly1425=)
c.4530G>T (p.Gly1510=)
c.4524G>T (p.Gly1508=)
c.4092G>T (p.Gly1364=)
c.4392G>T (p.Gly1464=)
n.4843G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104806256C=CA1869929603ABCA1c.4449G= (p.Gly1483=)
c.4455G= (p.Gly1485=)
c.4275G= (p.Gly1425=)
c.4530G= (p.Gly1510=)
c.4524G= (p.Gly1508=)
c.4092G= (p.Gly1364=)
c.4392G= (p.Gly1464=)
n.4843G=
9g.104806256C>GCA466504285ABCA1c.4449G>C (p.Gly1483=)
c.4455G>C (p.Gly1485=)
c.4275G>C (p.Gly1425=)
c.4530G>C (p.Gly1510=)
c.4524G>C (p.Gly1508=)
c.4092G>C (p.Gly1364=)
c.4392G>C (p.Gly1464=)
n.4843G>C
9g.104806256C>TCA5168149ABCA1c.4449G>A (p.Gly1483=)
c.4455G>A (p.Gly1485=)
c.4275G>A (p.Gly1425=)
c.4530G>A (p.Gly1510=)
c.4524G>A (p.Gly1508=)
c.4092G>A (p.Gly1364=)
c.4392G>A (p.Gly1464=)
n.4843G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104806261dupCA2691051844ABCA1c.4449dup (p.Leu1484AlafsTer?)
c.4455dup (p.Leu1486AlafsTer?)
c.4275dup (p.Leu1426AlafsTer?)
c.4530dup (p.Leu1511AlafsTer?)
c.4524dup (p.Leu1509AlafsTer?)
c.4092dup (p.Leu1365AlafsTer?)
c.4530dup (p.Leu1511AlafsTer28)
c.4392dup (p.Leu1465AlafsTer?)
n.4843dup
 gnomAD v4
9g.104806261delCA1869929601ABCA1c.4449del (p.Leu1484CysfsTer17)
c.4455del (p.Leu1486CysfsTer17)
c.4275del (p.Leu1426CysfsTer17)
c.4530del (p.Leu1511CysfsTer17)
c.4524del (p.Leu1509CysfsTer17)
c.4092del (p.Leu1365CysfsTer17)
c.4530del (p.Leu1511CysfsTer13)
c.4392del (p.Leu1465CysfsTer17)
n.4843del
 ClinVar dbSNP
9g.104806257C>ACA374315476ABCA1c.4448G>T (p.Gly1483Val)
c.4454G>T (p.Gly1485Val)
c.4274G>T (p.Gly1425Val)
c.4529G>T (p.Gly1510Val)
c.4523G>T (p.Gly1508Val)
c.4091G>T (p.Gly1364Val)
c.4391G>T (p.Gly1464Val)
n.4842G>T
9g.104806257C>GCA374315477ABCA1c.4448G>C (p.Gly1483Ala)
c.4454G>C (p.Gly1485Ala)
c.4274G>C (p.Gly1425Ala)
c.4529G>C (p.Gly1510Ala)
c.4523G>C (p.Gly1508Ala)
c.4091G>C (p.Gly1364Ala)
c.4391G>C (p.Gly1464Ala)
n.4842G>C
9g.104806257C>TCA374315478ABCA1c.4448G>A (p.Gly1483Glu)
c.4454G>A (p.Gly1485Glu)
c.4274G>A (p.Gly1425Glu)
c.4529G>A (p.Gly1510Glu)
c.4523G>A (p.Gly1508Glu)
c.4091G>A (p.Gly1364Glu)
c.4391G>A (p.Gly1464Glu)
n.4842G>A
 gnomAD v4
9g.104806258C>ACA374315479ABCA1c.4447G>T (p.Gly1483Trp)
c.4453G>T (p.Gly1485Trp)
c.4273G>T (p.Gly1425Trp)
c.4528G>T (p.Gly1510Trp)
c.4522G>T (p.Gly1508Trp)
c.4090G>T (p.Gly1364Trp)
c.4390G>T (p.Gly1464Trp)
n.4841G>T
9g.104806258C>GCA374315480ABCA1c.4447G>C (p.Gly1483Arg)
c.4453G>C (p.Gly1485Arg)
c.4273G>C (p.Gly1425Arg)
c.4528G>C (p.Gly1510Arg)
c.4522G>C (p.Gly1508Arg)
c.4090G>C (p.Gly1364Arg)
c.4390G>C (p.Gly1464Arg)
n.4841G>C
9g.104806258C>TCA374315481ABCA1c.4447G>A (p.Gly1483Arg)
c.4453G>A (p.Gly1485Arg)
c.4273G>A (p.Gly1425Arg)
c.4528G>A (p.Gly1510Arg)
c.4522G>A (p.Gly1508Arg)
c.4090G>A (p.Gly1364Arg)
c.4390G>A (p.Gly1464Arg)
n.4841G>A
9g.104806259C>ACA466504289ABCA1c.4446G>T (p.Gly1482=)
c.4452G>T (p.Gly1484=)
c.4272G>T (p.Gly1424=)
c.4527G>T (p.Gly1509=)
c.4521G>T (p.Gly1507=)
c.4089G>T (p.Gly1363=)
c.4389G>T (p.Gly1463=)
n.4840G>T
9g.104806259C>GCA466504288ABCA1c.4446G>C (p.Gly1482=)
c.4452G>C (p.Gly1484=)
c.4272G>C (p.Gly1424=)
c.4527G>C (p.Gly1509=)
c.4521G>C (p.Gly1507=)
c.4089G>C (p.Gly1363=)
c.4389G>C (p.Gly1463=)
n.4840G>C
9g.104806259C>TCA466504287ABCA1c.4446G>A (p.Gly1482=)
c.4452G>A (p.Gly1484=)
c.4272G>A (p.Gly1424=)
c.4527G>A (p.Gly1509=)
c.4521G>A (p.Gly1507=)
c.4089G>A (p.Gly1363=)
c.4389G>A (p.Gly1463=)
n.4840G>A
9g.104806260C>ACA374315482ABCA1c.4445G>T (p.Gly1482Val)
c.4451G>T (p.Gly1484Val)
c.4271G>T (p.Gly1424Val)
c.4526G>T (p.Gly1509Val)
c.4520G>T (p.Gly1507Val)
c.4088G>T (p.Gly1363Val)
c.4388G>T (p.Gly1463Val)
n.4839G>T
 gnomAD v4
9g.104806260C=CA1869929608ABCA1c.4445G= (p.Gly1482=)
c.4451G= (p.Gly1484=)
c.4271G= (p.Gly1424=)
c.4526G= (p.Gly1509=)
c.4520G= (p.Gly1507=)
c.4088G= (p.Gly1363=)
c.4388G= (p.Gly1463=)
n.4839G=
9g.104806260C>GCA374315483ABCA1c.4445G>C (p.Gly1482Ala)
c.4451G>C (p.Gly1484Ala)
c.4271G>C (p.Gly1424Ala)
c.4526G>C (p.Gly1509Ala)
c.4520G>C (p.Gly1507Ala)
c.4088G>C (p.Gly1363Ala)
c.4388G>C (p.Gly1463Ala)
n.4839G>C
 dbSNP gnomAD v4
9g.104806260C>TCA374315484ABCA1c.4445G>A (p.Gly1482Glu)
c.4451G>A (p.Gly1484Glu)
c.4271G>A (p.Gly1424Glu)
c.4526G>A (p.Gly1509Glu)
c.4520G>A (p.Gly1507Glu)
c.4088G>A (p.Gly1363Glu)
c.4388G>A (p.Gly1463Glu)
n.4839G>A
 dbSNP gnomAD v2 gnomAD v4
9g.104806261C>ACA374315485ABCA1c.4444G>T (p.Gly1482Trp)
c.4450G>T (p.Gly1484Trp)
c.4270G>T (p.Gly1424Trp)
c.4525G>T (p.Gly1509Trp)
c.4519G>T (p.Gly1507Trp)
c.4087G>T (p.Gly1363Trp)
c.4387G>T (p.Gly1463Trp)
n.4838G>T
9g.104806261C=CA1869929615ABCA1c.4444G= (p.Gly1482=)
c.4450G= (p.Gly1484=)
c.4270G= (p.Gly1424=)
c.4525G= (p.Gly1509=)
c.4519G= (p.Gly1507=)
c.4087G= (p.Gly1363=)
c.4387G= (p.Gly1463=)
n.4838G=
9g.104806261C>GCA374315486ABCA1c.4444G>C (p.Gly1482Arg)
c.4450G>C (p.Gly1484Arg)
c.4270G>C (p.Gly1424Arg)
c.4525G>C (p.Gly1509Arg)
c.4519G>C (p.Gly1507Arg)
c.4087G>C (p.Gly1363Arg)
c.4387G>C (p.Gly1463Arg)
n.4838G>C
 gnomAD v4
9g.104806261C>TCA374315487ABCA1c.4444G>A (p.Gly1482Arg)
c.4450G>A (p.Gly1484Arg)
c.4270G>A (p.Gly1424Arg)
c.4525G>A (p.Gly1509Arg)
c.4519G>A (p.Gly1507Arg)
c.4087G>A (p.Gly1363Arg)
c.4387G>A (p.Gly1463Arg)
n.4838G>A
 dbSNP gnomAD v4
9g.104806262T>ACA466504290ABCA1c.4443A>T (p.Ala1481=)
c.4449A>T (p.Ala1483=)
c.4269A>T (p.Ala1423=)
c.4524A>T (p.Ala1508=)
c.4518A>T (p.Ala1506=)
c.4086A>T (p.Ala1362=)
c.4386A>T (p.Ala1462=)
n.4837A>T
9g.104806262T>CCA466504293ABCA1c.4443A>G (p.Ala1481=)
c.4449A>G (p.Ala1483=)
c.4269A>G (p.Ala1423=)
c.4524A>G (p.Ala1508=)
c.4518A>G (p.Ala1506=)
c.4086A>G (p.Ala1362=)
c.4386A>G (p.Ala1462=)
n.4837A>G
 gnomAD v4
9g.104806262T>GCA466504291ABCA1c.4443A>C (p.Ala1481=)
c.4449A>C (p.Ala1483=)
c.4269A>C (p.Ala1423=)
c.4524A>C (p.Ala1508=)
c.4518A>C (p.Ala1506=)
c.4086A>C (p.Ala1362=)
c.4386A>C (p.Ala1462=)
n.4837A>C
9g.104806263G>ACA374315490ABCA1c.4442C>T (p.Ala1481Val)
c.4448C>T (p.Ala1483Val)
c.4268C>T (p.Ala1423Val)
c.4523C>T (p.Ala1508Val)
c.4517C>T (p.Ala1506Val)
c.4085C>T (p.Ala1362Val)
c.4385C>T (p.Ala1462Val)
n.4836C>T
 gnomAD v4
9g.104806263G>CCA374315488ABCA1c.4442C>G (p.Ala1481Gly)
c.4448C>G (p.Ala1483Gly)
c.4268C>G (p.Ala1423Gly)
c.4523C>G (p.Ala1508Gly)
c.4517C>G (p.Ala1506Gly)
c.4085C>G (p.Ala1362Gly)
c.4385C>G (p.Ala1462Gly)
n.4836C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.104806263G=CA1869929620ABCA1c.4442C= (p.Ala1481=)
c.4448C= (p.Ala1483=)
c.4268C= (p.Ala1423=)
c.4523C= (p.Ala1508=)
c.4517C= (p.Ala1506=)
c.4085C= (p.Ala1362=)
c.4385C= (p.Ala1462=)
n.4836C=
9g.104806263G>TCA374315489ABCA1c.4442C>A (p.Ala1481Glu)
c.4448C>A (p.Ala1483Glu)
c.4268C>A (p.Ala1423Glu)
c.4523C>A (p.Ala1508Glu)
c.4517C>A (p.Ala1506Glu)
c.4085C>A (p.Ala1362Glu)
c.4385C>A (p.Ala1462Glu)
n.4836C>A
 COSMIC
9g.104806264C>ACA374315491ABCA1c.4441G>T (p.Ala1481Ser)
c.4447G>T (p.Ala1483Ser)
c.4267G>T (p.Ala1423Ser)
c.4522G>T (p.Ala1508Ser)
c.4516G>T (p.Ala1506Ser)
c.4084G>T (p.Ala1362Ser)
c.4384G>T (p.Ala1462Ser)
n.4835G>T
9g.104806264C>GCA374315493ABCA1c.4441G>C (p.Ala1481Pro)
c.4447G>C (p.Ala1483Pro)
c.4267G>C (p.Ala1423Pro)
c.4522G>C (p.Ala1508Pro)
c.4516G>C (p.Ala1506Pro)
c.4084G>C (p.Ala1362Pro)
c.4384G>C (p.Ala1462Pro)
n.4835G>C
9g.104806264C>TCA374315492ABCA1c.4441G>A (p.Ala1481Thr)
c.4447G>A (p.Ala1483Thr)
c.4267G>A (p.Ala1423Thr)
c.4522G>A (p.Ala1508Thr)
c.4516G>A (p.Ala1506Thr)
c.4084G>A (p.Ala1362Thr)
c.4384G>A (p.Ala1462Thr)
n.4835G>A
9g.104806265C>ACA5168150ABCA1c.4440G>T (p.Gly1480=)
c.4446G>T (p.Gly1482=)
c.4266G>T (p.Gly1422=)
c.4521G>T (p.Gly1507=)
c.4515G>T (p.Gly1505=)
c.4083G>T (p.Gly1361=)
c.4383G>T (p.Gly1461=)
n.4834G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104806265C=CA1869929633ABCA1c.4440G= (p.Gly1480=)
c.4446G= (p.Gly1482=)
c.4266G= (p.Gly1422=)
c.4521G= (p.Gly1507=)
c.4515G= (p.Gly1505=)
c.4083G= (p.Gly1361=)
c.4383G= (p.Gly1461=)
n.4834G=
9g.104806265C>GCA466504297ABCA1c.4440G>C (p.Gly1480=)
c.4446G>C (p.Gly1482=)
c.4266G>C (p.Gly1422=)
c.4521G>C (p.Gly1507=)
c.4515G>C (p.Gly1505=)
c.4083G>C (p.Gly1361=)
c.4383G>C (p.Gly1461=)
n.4834G>C
9g.104806265C>TCA5168151ABCA1c.4440G>A (p.Gly1480=)
c.4446G>A (p.Gly1482=)
c.4266G>A (p.Gly1422=)
c.4521G>A (p.Gly1507=)
c.4515G>A (p.Gly1505=)
c.4083G>A (p.Gly1361=)
c.4383G>A (p.Gly1461=)
n.4834G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104806266C>ACA374315494ABCA1c.4439G>T (p.Gly1480Val)
c.4445G>T (p.Gly1482Val)
c.4265G>T (p.Gly1422Val)
c.4520G>T (p.Gly1507Val)
c.4514G>T (p.Gly1505Val)
c.4082G>T (p.Gly1361Val)
c.4382G>T (p.Gly1461Val)
n.4833G>T
9g.104806266C=CA1869929638ABCA1c.4439G= (p.Gly1480=)
c.4445G= (p.Gly1482=)
c.4265G= (p.Gly1422=)
c.4520G= (p.Gly1507=)
c.4514G= (p.Gly1505=)
c.4082G= (p.Gly1361=)
c.4382G= (p.Gly1461=)
n.4833G=
9g.104806266C>GCA5168152ABCA1c.4439G>C (p.Gly1480Ala)
c.4445G>C (p.Gly1482Ala)
c.4265G>C (p.Gly1422Ala)
c.4520G>C (p.Gly1507Ala)
c.4514G>C (p.Gly1505Ala)
c.4082G>C (p.Gly1361Ala)
c.4382G>C (p.Gly1461Ala)
n.4833G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104806266C>TCA374315495ABCA1c.4439G>A (p.Gly1480Glu)
c.4445G>A (p.Gly1482Glu)
c.4265G>A (p.Gly1422Glu)
c.4520G>A (p.Gly1507Glu)
c.4514G>A (p.Gly1505Glu)
c.4082G>A (p.Gly1361Glu)
c.4382G>A (p.Gly1461Glu)
n.4833G>A
 dbSNP
9g.104806267C>ACA374315496ABCA1c.4438G>T (p.Gly1480Trp)
c.4444G>T (p.Gly1482Trp)
c.4264G>T (p.Gly1422Trp)
c.4519G>T (p.Gly1507Trp)
c.4513G>T (p.Gly1505Trp)
c.4081G>T (p.Gly1361Trp)
c.4381G>T (p.Gly1461Trp)
n.4832G>T
9g.104806267C>GCA374315497ABCA1c.4438G>C (p.Gly1480Arg)
c.4444G>C (p.Gly1482Arg)
c.4264G>C (p.Gly1422Arg)
c.4519G>C (p.Gly1507Arg)
c.4513G>C (p.Gly1505Arg)
c.4081G>C (p.Gly1361Arg)
c.4381G>C (p.Gly1461Arg)
n.4832G>C
9g.104806267C>TCA374315498ABCA1c.4438G>A (p.Gly1480Arg)
c.4444G>A (p.Gly1482Arg)
c.4264G>A (p.Gly1422Arg)
c.4519G>A (p.Gly1507Arg)
c.4513G>A (p.Gly1505Arg)
c.4081G>A (p.Gly1361Arg)
c.4381G>A (p.Gly1461Arg)
n.4832G>A
 ClinVar
9g.104806268T>ACA466504300ABCA1c.4437A>T (p.Pro1479=)
c.4443A>T (p.Pro1481=)
c.4263A>T (p.Pro1421=)
c.4518A>T (p.Pro1506=)
c.4512A>T (p.Pro1504=)
c.4080A>T (p.Pro1360=)
c.4380A>T (p.Pro1460=)
n.4831A>T
9g.104806268T>CCA466504302ABCA1c.4437A>G (p.Pro1479=)
c.4443A>G (p.Pro1481=)
c.4263A>G (p.Pro1421=)
c.4518A>G (p.Pro1506=)
c.4512A>G (p.Pro1504=)
c.4080A>G (p.Pro1360=)
c.4380A>G (p.Pro1460=)
n.4831A>G
 gnomAD v4
9g.104806268T>GCA466504303ABCA1c.4437A>C (p.Pro1479=)
c.4443A>C (p.Pro1481=)
c.4263A>C (p.Pro1421=)
c.4518A>C (p.Pro1506=)
c.4512A>C (p.Pro1504=)
c.4080A>C (p.Pro1360=)
c.4380A>C (p.Pro1460=)
n.4831A>C
9g.104806269G>ACA374315499ABCA1c.4436C>T (p.Pro1479Leu)
c.4442C>T (p.Pro1481Leu)
c.4262C>T (p.Pro1421Leu)
c.4517C>T (p.Pro1506Leu)
c.4511C>T (p.Pro1504Leu)
c.4079C>T (p.Pro1360Leu)
c.4379C>T (p.Pro1460Leu)
n.4830C>T
 dbSNP
9g.104806269G>CCA374315500ABCA1c.4436C>G (p.Pro1479Arg)
c.4442C>G (p.Pro1481Arg)
c.4262C>G (p.Pro1421Arg)
c.4517C>G (p.Pro1506Arg)
c.4511C>G (p.Pro1504Arg)
c.4079C>G (p.Pro1360Arg)
c.4379C>G (p.Pro1460Arg)
n.4830C>G
9g.104806269G=CA1869929646ABCA1c.4436C= (p.Pro1479=)
c.4442C= (p.Pro1481=)
c.4262C= (p.Pro1421=)
c.4517C= (p.Pro1506=)
c.4511C= (p.Pro1504=)
c.4079C= (p.Pro1360=)
c.4379C= (p.Pro1460=)
n.4830C=
9g.104806269G>TCA374315501ABCA1c.4436C>A (p.Pro1479Gln)
c.4442C>A (p.Pro1481Gln)
c.4262C>A (p.Pro1421Gln)
c.4517C>A (p.Pro1506Gln)
c.4511C>A (p.Pro1504Gln)
c.4079C>A (p.Pro1360Gln)
c.4379C>A (p.Pro1460Gln)
n.4830C>A
 gnomAD v4
9g.104806273dupCA2691051845ABCA1c.4436dup (p.Gly1480ArgfsTer?)
c.4442dup (p.Gly1482ArgfsTer?)
c.4262dup (p.Gly1422ArgfsTer?)
c.4517dup (p.Gly1507ArgfsTer?)
c.4511dup (p.Gly1505ArgfsTer?)
c.4079dup (p.Gly1361ArgfsTer?)
c.4379dup (p.Gly1461ArgfsTer?)
n.4830dup
 gnomAD v4
9g.104806270G>ACA374315504ABCA1c.4435C>T (p.Pro1479Ser)
c.4441C>T (p.Pro1481Ser)
c.4261C>T (p.Pro1421Ser)
c.4516C>T (p.Pro1506Ser)
c.4510C>T (p.Pro1504Ser)
c.4078C>T (p.Pro1360Ser)
c.4378C>T (p.Pro1460Ser)
n.4829C>T
9g.104806270G>CCA374315502ABCA1c.4435C>G (p.Pro1479Ala)
c.4441C>G (p.Pro1481Ala)
c.4261C>G (p.Pro1421Ala)
c.4516C>G (p.Pro1506Ala)
c.4510C>G (p.Pro1504Ala)
c.4078C>G (p.Pro1360Ala)
c.4378C>G (p.Pro1460Ala)
n.4829C>G
9g.104806270G>TCA374315503ABCA1c.4435C>A (p.Pro1479Thr)
c.4441C>A (p.Pro1481Thr)
c.4261C>A (p.Pro1421Thr)
c.4516C>A (p.Pro1506Thr)
c.4510C>A (p.Pro1504Thr)
c.4078C>A (p.Pro1360Thr)
c.4378C>A (p.Pro1460Thr)
n.4829C>A
9g.104806271G>ACA466504304ABCA1c.4434C>T (p.Pro1478=)
c.4440C>T (p.Pro1480=)
c.4260C>T (p.Pro1420=)
c.4515C>T (p.Pro1505=)
c.4509C>T (p.Pro1503=)
c.4077C>T (p.Pro1359=)
c.4377C>T (p.Pro1459=)
n.4828C>T
9g.104806271G>CCA466504305ABCA1c.4434C>G (p.Pro1478=)
c.4440C>G (p.Pro1480=)
c.4260C>G (p.Pro1420=)
c.4515C>G (p.Pro1505=)
c.4509C>G (p.Pro1503=)
c.4077C>G (p.Pro1359=)
c.4377C>G (p.Pro1459=)
n.4828C>G
9g.104806271G>TCA466504306ABCA1c.4434C>A (p.Pro1478=)
c.4440C>A (p.Pro1480=)
c.4260C>A (p.Pro1420=)
c.4515C>A (p.Pro1505=)
c.4509C>A (p.Pro1503=)
c.4077C>A (p.Pro1359=)
c.4377C>A (p.Pro1459=)
n.4828C>A
9g.104806272G>ACA197370872ABCA1c.4433C>T (p.Pro1478Leu)
c.4439C>T (p.Pro1480Leu)
c.4259C>T (p.Pro1420Leu)
c.4514C>T (p.Pro1505Leu)
c.4508C>T (p.Pro1503Leu)
c.4076C>T (p.Pro1359Leu)
c.4376C>T (p.Pro1459Leu)
n.4827C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
9g.104806272G>CCA374315505ABCA1c.4433C>G (p.Pro1478Arg)
c.4439C>G (p.Pro1480Arg)
c.4259C>G (p.Pro1420Arg)
c.4514C>G (p.Pro1505Arg)
c.4508C>G (p.Pro1503Arg)
c.4076C>G (p.Pro1359Arg)
c.4376C>G (p.Pro1459Arg)
n.4827C>G
9g.104806272G=CA1869929651ABCA1c.4433C= (p.Pro1478=)
c.4439C= (p.Pro1480=)
c.4259C= (p.Pro1420=)
c.4514C= (p.Pro1505=)
c.4508C= (p.Pro1503=)
c.4076C= (p.Pro1359=)
c.4376C= (p.Pro1459=)
n.4827C=
9g.104806272G>TCA374315506ABCA1c.4433C>A (p.Pro1478His)
c.4439C>A (p.Pro1480His)
c.4259C>A (p.Pro1420His)
c.4514C>A (p.Pro1505His)
c.4508C>A (p.Pro1503His)
c.4076C>A (p.Pro1359His)
c.4376C>A (p.Pro1459His)
n.4827C>A
9g.104806273G>ACA374315507ABCA1c.4432C>T (p.Pro1478Ser)
c.4438C>T (p.Pro1480Ser)
c.4258C>T (p.Pro1420Ser)
c.4513C>T (p.Pro1505Ser)
c.4507C>T (p.Pro1503Ser)
c.4075C>T (p.Pro1359Ser)
c.4375C>T (p.Pro1459Ser)
n.4826C>T
 dbSNP COSMIC
9g.104806273G>CCA374315508ABCA1c.4432C>G (p.Pro1478Ala)
c.4438C>G (p.Pro1480Ala)
c.4258C>G (p.Pro1420Ala)
c.4513C>G (p.Pro1505Ala)
c.4507C>G (p.Pro1503Ala)
c.4075C>G (p.Pro1359Ala)
c.4375C>G (p.Pro1459Ala)
n.4826C>G
9g.104806273G=CA1869929659ABCA1c.4432C= (p.Pro1478=)
c.4438C= (p.Pro1480=)
c.4258C= (p.Pro1420=)
c.4513C= (p.Pro1505=)
c.4507C= (p.Pro1503=)
c.4075C= (p.Pro1359=)
c.4375C= (p.Pro1459=)
n.4826C=
9g.104806273G>TCA374315509ABCA1c.4432C>A (p.Pro1478Thr)
c.4438C>A (p.Pro1480Thr)
c.4258C>A (p.Pro1420Thr)
c.4513C>A (p.Pro1505Thr)
c.4507C>A (p.Pro1503Thr)
c.4075C>A (p.Pro1359Thr)
c.4375C>A (p.Pro1459Thr)
n.4826C>A
 dbSNP gnomAD v3 gnomAD v4
9g.104806274A>CCA374315510ABCA1c.4431T>G (p.Cys1477Trp)
c.4437T>G (p.Cys1479Trp)
c.4257T>G (p.Cys1419Trp)
c.4512T>G (p.Cys1504Trp)
c.4506T>G (p.Cys1502Trp)
c.4074T>G (p.Cys1358Trp)
c.4374T>G (p.Cys1458Trp)
n.4825T>G
9g.104806274A>GCA466504307ABCA1c.4431T>C (p.Cys1477=)
c.4437T>C (p.Cys1479=)
c.4257T>C (p.Cys1419=)
c.4512T>C (p.Cys1504=)
c.4506T>C (p.Cys1502=)
c.4074T>C (p.Cys1358=)
c.4374T>C (p.Cys1458=)
n.4825T>C
9g.104806274A>TCA374315511ABCA1c.4431T>A (p.Cys1477Ter)
c.4437T>A (p.Cys1479Ter)
c.4257T>A (p.Cys1419Ter)
c.4512T>A (p.Cys1504Ter)
c.4506T>A (p.Cys1502Ter)
c.4074T>A (p.Cys1358Ter)
c.4374T>A (p.Cys1458Ter)
n.4825T>A
9g.104806275C>ACA374315512ABCA1c.4430G>T (p.Cys1477Phe)
c.4436G>T (p.Cys1479Phe)
c.4256G>T (p.Cys1419Phe)
c.4511G>T (p.Cys1504Phe)
c.4505G>T (p.Cys1502Phe)
c.4073G>T (p.Cys1358Phe)
c.4373G>T (p.Cys1458Phe)
n.4824G>T
 gnomAD v4
9g.104806275C>GCA374315513ABCA1c.4430G>C (p.Cys1477Ser)
c.4436G>C (p.Cys1479Ser)
c.4256G>C (p.Cys1419Ser)
c.4511G>C (p.Cys1504Ser)
c.4505G>C (p.Cys1502Ser)
c.4073G>C (p.Cys1358Ser)
c.4373G>C (p.Cys1458Ser)
n.4824G>C
9g.104806275C>TCA374315514ABCA1c.4430G>A (p.Cys1477Tyr)
c.4436G>A (p.Cys1479Tyr)
c.4256G>A (p.Cys1419Tyr)
c.4511G>A (p.Cys1504Tyr)
c.4505G>A (p.Cys1502Tyr)
c.4073G>A (p.Cys1358Tyr)
c.4373G>A (p.Cys1458Tyr)
n.4824G>A
9g.104806276A=CA1869929667ABCA1c.4429T= (p.Cys1477=)
c.4435T= (p.Cys1479=)
c.4255T= (p.Cys1419=)
c.4510T= (p.Cys1504=)
c.4504T= (p.Cys1502=)
c.4072T= (p.Cys1358=)
c.4372T= (p.Cys1458=)
n.4823T=
9g.104806276A>CCA374315516ABCA1c.4429T>G (p.Cys1477Gly)
c.4435T>G (p.Cys1479Gly)
c.4255T>G (p.Cys1419Gly)
c.4510T>G (p.Cys1504Gly)
c.4504T>G (p.Cys1502Gly)
c.4072T>G (p.Cys1358Gly)
c.4372T>G (p.Cys1458Gly)
n.4823T>G
 gnomAD v4
9g.104806276A>GCA120477ABCA1c.4429T>C (p.Cys1477Arg)
c.4435T>C (p.Cys1479Arg)
c.4255T>C (p.Cys1419Arg)
c.4510T>C (p.Cys1504Arg)
c.4504T>C (p.Cys1502Arg)
c.4072T>C (p.Cys1358Arg)
c.4372T>C (p.Cys1458Arg)
n.4823T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.104806276A>TCA374315515ABCA1c.4429T>A (p.Cys1477Ser)
c.4435T>A (p.Cys1479Ser)
c.4255T>A (p.Cys1419Ser)
c.4510T>A (p.Cys1504Ser)
c.4504T>A (p.Cys1502Ser)
c.4072T>A (p.Cys1358Ser)
c.4372T>A (p.Cys1458Ser)
n.4823T>A
9g.104806277C>ACA466504309ABCA1c.4428G>T (p.Val1476=)
c.4434G>T (p.Val1478=)
c.4254G>T (p.Val1418=)
c.4509G>T (p.Val1503=)
c.4503G>T (p.Val1501=)
c.4071G>T (p.Val1357=)
c.4371G>T (p.Val1457=)
n.4822G>T
9g.104806277C>GCA466504313ABCA1c.4428G>C (p.Val1476=)
c.4434G>C (p.Val1478=)
c.4254G>C (p.Val1418=)
c.4509G>C (p.Val1503=)
c.4503G>C (p.Val1501=)
c.4071G>C (p.Val1357=)
c.4371G>C (p.Val1457=)
n.4822G>C
9g.104806277C>TCA466504311ABCA1c.4428G>A (p.Val1476=)
c.4434G>A (p.Val1478=)
c.4254G>A (p.Val1418=)
c.4509G>A (p.Val1503=)
c.4503G>A (p.Val1501=)
c.4071G>A (p.Val1357=)
c.4371G>A (p.Val1457=)
n.4822G>A
9g.104806278A>CCA374315519ABCA1c.4427T>G (p.Val1476Gly)
c.4433T>G (p.Val1478Gly)
c.4253T>G (p.Val1418Gly)
c.4508T>G (p.Val1503Gly)
c.4502T>G (p.Val1501Gly)
c.4070T>G (p.Val1357Gly)
c.4370T>G (p.Val1457Gly)
n.4821T>G
9g.104806278A>GCA374315517ABCA1c.4427T>C (p.Val1476Ala)
c.4433T>C (p.Val1478Ala)
c.4253T>C (p.Val1418Ala)
c.4508T>C (p.Val1503Ala)
c.4502T>C (p.Val1501Ala)
c.4070T>C (p.Val1357Ala)
c.4370T>C (p.Val1457Ala)
n.4821T>C
9g.104806278A>TCA374315518ABCA1c.4427T>A (p.Val1476Glu)
c.4433T>A (p.Val1478Glu)
c.4253T>A (p.Val1418Glu)
c.4508T>A (p.Val1503Glu)
c.4502T>A (p.Val1501Glu)
c.4070T>A (p.Val1357Glu)
c.4370T>A (p.Val1457Glu)
n.4821T>A
9g.104806279C>ACA374315520ABCA1c.4426G>T (p.Val1476Leu)
c.4432G>T (p.Val1478Leu)
c.4252G>T (p.Val1418Leu)
c.4507G>T (p.Val1503Leu)
c.4501G>T (p.Val1501Leu)
c.4069G>T (p.Val1357Leu)
c.4369G>T (p.Val1457Leu)
n.4820G>T
9g.104806279C=CA1869929676ABCA1c.4426G= (p.Val1476=)
c.4432G= (p.Val1478=)
c.4252G= (p.Val1418=)
c.4507G= (p.Val1503=)
c.4501G= (p.Val1501=)
c.4069G= (p.Val1357=)
c.4369G= (p.Val1457=)
n.4820G=
9g.104806279C>GCA374315521ABCA1c.4426G>C (p.Val1476Leu)
c.4432G>C (p.Val1478Leu)
c.4252G>C (p.Val1418Leu)
c.4507G>C (p.Val1503Leu)
c.4501G>C (p.Val1501Leu)
c.4069G>C (p.Val1357Leu)
c.4369G>C (p.Val1457Leu)
n.4820G>C
 ClinVar dbSNP gnomAD v4
9g.104806279C>TCA374315522ABCA1c.4426G>A (p.Val1476Met)
c.4432G>A (p.Val1478Met)
c.4252G>A (p.Val1418Met)
c.4507G>A (p.Val1503Met)
c.4501G>A (p.Val1501Met)
c.4069G>A (p.Val1357Met)
c.4369G>A (p.Val1457Met)
n.4820G>A
 dbSNP gnomAD v4
9g.104806280A>CCA466504315ABCA1c.4425T>G (p.Pro1475=)
c.4431T>G (p.Pro1477=)
c.4251T>G (p.Pro1417=)
c.4506T>G (p.Pro1502=)
c.4500T>G (p.Pro1500=)
c.4068T>G (p.Pro1356=)
c.4368T>G (p.Pro1456=)
n.4819T>G
9g.104806280A>GCA466504316ABCA1c.4425T>C (p.Pro1475=)
c.4431T>C (p.Pro1477=)
c.4251T>C (p.Pro1417=)
c.4506T>C (p.Pro1502=)
c.4500T>C (p.Pro1500=)
c.4068T>C (p.Pro1356=)
c.4368T>C (p.Pro1456=)
n.4819T>C
 gnomAD v4
9g.104806280A>TCA466504317ABCA1c.4425T>A (p.Pro1475=)
c.4431T>A (p.Pro1477=)
c.4251T>A (p.Pro1417=)
c.4506T>A (p.Pro1502=)
c.4500T>A (p.Pro1500=)
c.4068T>A (p.Pro1356=)
c.4368T>A (p.Pro1456=)
n.4819T>A
9g.104806281G>ACA374315525ABCA1c.4424C>T (p.Pro1475Leu)
c.4430C>T (p.Pro1477Leu)
c.4250C>T (p.Pro1417Leu)
c.4505C>T (p.Pro1502Leu)
c.4499C>T (p.Pro1500Leu)
c.4067C>T (p.Pro1356Leu)
c.4367C>T (p.Pro1456Leu)
n.4818C>T
 gnomAD v4
9g.104806281G>CCA374315524ABCA1c.4424C>G (p.Pro1475Arg)
c.4430C>G (p.Pro1477Arg)
c.4250C>G (p.Pro1417Arg)
c.4505C>G (p.Pro1502Arg)
c.4499C>G (p.Pro1500Arg)
c.4067C>G (p.Pro1356Arg)
c.4367C>G (p.Pro1456Arg)
n.4818C>G
9g.104806281G>TCA374315523ABCA1c.4424C>A (p.Pro1475His)
c.4430C>A (p.Pro1477His)
c.4250C>A (p.Pro1417His)
c.4505C>A (p.Pro1502His)
c.4499C>A (p.Pro1500His)
c.4067C>A (p.Pro1356His)
c.4367C>A (p.Pro1456His)
n.4818C>A
9g.104806282G>ACA5168153ABCA1c.4423C>T (p.Pro1475Ser)
c.4429C>T (p.Pro1477Ser)
c.4249C>T (p.Pro1417Ser)
c.4504C>T (p.Pro1502Ser)
c.4498C>T (p.Pro1500Ser)
c.4066C>T (p.Pro1356Ser)
c.4366C>T (p.Pro1456Ser)
n.4817C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.104806282G>CCA374315526ABCA1c.4423C>G (p.Pro1475Ala)
c.4429C>G (p.Pro1477Ala)
c.4249C>G (p.Pro1417Ala)
c.4504C>G (p.Pro1502Ala)
c.4498C>G (p.Pro1500Ala)
c.4066C>G (p.Pro1356Ala)
c.4366C>G (p.Pro1456Ala)
n.4817C>G
 gnomAD v4
9g.104806282G=CA1869929684ABCA1c.4423C= (p.Pro1475=)
c.4429C= (p.Pro1477=)
c.4249C= (p.Pro1417=)
c.4504C= (p.Pro1502=)
c.4498C= (p.Pro1500=)
c.4066C= (p.Pro1356=)
c.4366C= (p.Pro1456=)
n.4817C=
9g.104806282G>TCA374315527ABCA1c.4423C>A (p.Pro1475Thr)
c.4429C>A (p.Pro1477Thr)
c.4249C>A (p.Pro1417Thr)
c.4504C>A (p.Pro1502Thr)
c.4498C>A (p.Pro1500Thr)
c.4066C>A (p.Pro1356Thr)
c.4366C>A (p.Pro1456Thr)
n.4817C>A
9g.104806283C>ACA466504320ABCA1c.4422G>T (p.Leu1474=)
c.4428G>T (p.Leu1476=)
c.4248G>T (p.Leu1416=)
c.4503G>T (p.Leu1501=)
c.4497G>T (p.Leu1499=)
c.4065G>T (p.Leu1355=)
c.4365G>T (p.Leu1455=)
n.4816G>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.104806283C=CA1869929703ABCA1c.4422G= (p.Leu1474=)
c.4428G= (p.Leu1476=)
c.4248G= (p.Leu1416=)
c.4503G= (p.Leu1501=)
c.4497G= (p.Leu1499=)
c.4065G= (p.Leu1355=)
c.4365G= (p.Leu1455=)
n.4816G=
9g.104806283C>GCA466504318ABCA1c.4422G>C (p.Leu1474=)
c.4428G>C (p.Leu1476=)
c.4248G>C (p.Leu1416=)
c.4503G>C (p.Leu1501=)
c.4497G>C (p.Leu1499=)
c.4065G>C (p.Leu1355=)
c.4365G>C (p.Leu1455=)
n.4816G>C
9g.104806283C>TCA466504319ABCA1c.4422G>A (p.Leu1474=)
c.4428G>A (p.Leu1476=)
c.4248G>A (p.Leu1416=)
c.4503G>A (p.Leu1501=)
c.4497G>A (p.Leu1499=)
c.4065G>A (p.Leu1355=)
c.4365G>A (p.Leu1455=)
n.4816G>A
9g.104806284A>CCA374315528ABCA1c.4421T>G (p.Leu1474Arg)
c.4427T>G (p.Leu1476Arg)
c.4247T>G (p.Leu1416Arg)
c.4502T>G (p.Leu1501Arg)
c.4496T>G (p.Leu1499Arg)
c.4064T>G (p.Leu1355Arg)
c.4364T>G (p.Leu1455Arg)
n.4815T>G
9g.104806284A>GCA374315529ABCA1c.4421T>C (p.Leu1474Pro)
c.4427T>C (p.Leu1476Pro)
c.4247T>C (p.Leu1416Pro)
c.4502T>C (p.Leu1501Pro)
c.4496T>C (p.Leu1499Pro)
c.4064T>C (p.Leu1355Pro)
c.4364T>C (p.Leu1455Pro)
n.4815T>C
 gnomAD v4
9g.104806284A>TCA374315530ABCA1c.4421T>A (p.Leu1474Gln)
c.4427T>A (p.Leu1476Gln)
c.4247T>A (p.Leu1416Gln)
c.4502T>A (p.Leu1501Gln)
c.4496T>A (p.Leu1499Gln)
c.4064T>A (p.Leu1355Gln)
c.4364T>A (p.Leu1455Gln)
n.4815T>A
 gnomAD v4
9g.104806285G>ACA5168154ABCA1c.4420C>T (p.Leu1474=)
c.4426C>T (p.Leu1476=)
c.4246C>T (p.Leu1416=)
c.4501C>T (p.Leu1501=)
c.4495C>T (p.Leu1499=)
c.4063C>T (p.Leu1355=)
c.4363C>T (p.Leu1455=)
n.4814C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104806285G>CCA374315532ABCA1c.4420C>G (p.Leu1474Val)
c.4426C>G (p.Leu1476Val)
c.4246C>G (p.Leu1416Val)
c.4501C>G (p.Leu1501Val)
c.4495C>G (p.Leu1499Val)
c.4063C>G (p.Leu1355Val)
c.4363C>G (p.Leu1455Val)
n.4814C>G
9g.104806285G=CA1869929704ABCA1c.4420C= (p.Leu1474=)
c.4426C= (p.Leu1476=)
c.4246C= (p.Leu1416=)
c.4501C= (p.Leu1501=)
c.4495C= (p.Leu1499=)
c.4063C= (p.Leu1355=)
c.4363C= (p.Leu1455=)
n.4814C=
9g.104806285G>TCA374315531ABCA1c.4420C>A (p.Leu1474Met)
c.4426C>A (p.Leu1476Met)
c.4246C>A (p.Leu1416Met)
c.4501C>A (p.Leu1501Met)
c.4495C>A (p.Leu1499Met)
c.4063C>A (p.Leu1355Met)
c.4363C>A (p.Leu1455Met)
n.4814C>A
9g.104806286C>ACA374315533ABCA1c.4419G>T (p.Met1473Ile)
c.4425G>T (p.Met1475Ile)
c.4245G>T (p.Met1415Ile)
c.4500G>T (p.Met1500Ile)
c.4494G>T (p.Met1498Ile)
c.4062G>T (p.Met1354Ile)
c.4362G>T (p.Met1454Ile)
n.4813G>T
9g.104806286C>GCA374315534ABCA1c.4419G>C (p.Met1473Ile)
c.4425G>C (p.Met1475Ile)
c.4245G>C (p.Met1415Ile)
c.4500G>C (p.Met1500Ile)
c.4494G>C (p.Met1498Ile)
c.4062G>C (p.Met1354Ile)
c.4362G>C (p.Met1454Ile)
n.4813G>C
9g.104806286C>TCA374315535ABCA1c.4419G>A (p.Met1473Ile)
c.4425G>A (p.Met1475Ile)
c.4245G>A (p.Met1415Ile)
c.4500G>A (p.Met1500Ile)
c.4494G>A (p.Met1498Ile)
c.4062G>A (p.Met1354Ile)
c.4362G>A (p.Met1454Ile)
n.4813G>A
9g.104806287A>CCA374315536ABCA1c.4418T>G (p.Met1473Arg)
c.4424T>G (p.Met1475Arg)
c.4244T>G (p.Met1415Arg)
c.4499T>G (p.Met1500Arg)
c.4493T>G (p.Met1498Arg)
c.4061T>G (p.Met1354Arg)
c.4361T>G (p.Met1454Arg)
n.4812T>G
9g.104806287A>GCA374315537ABCA1c.4418T>C (p.Met1473Thr)
c.4424T>C (p.Met1475Thr)
c.4244T>C (p.Met1415Thr)
c.4499T>C (p.Met1500Thr)
c.4493T>C (p.Met1498Thr)
c.4061T>C (p.Met1354Thr)
c.4361T>C (p.Met1454Thr)
n.4812T>C
 gnomAD v4
9g.104806287A>TCA374315538ABCA1c.4418T>A (p.Met1473Lys)
c.4424T>A (p.Met1475Lys)
c.4244T>A (p.Met1415Lys)
c.4499T>A (p.Met1500Lys)
c.4493T>A (p.Met1498Lys)
c.4061T>A (p.Met1354Lys)
c.4361T>A (p.Met1454Lys)
n.4812T>A
9g.104806288T>ACA374315539ABCA1c.4417A>T (p.Met1473Leu)
c.4423A>T (p.Met1475Leu)
c.4243A>T (p.Met1415Leu)
c.4498A>T (p.Met1500Leu)
c.4492A>T (p.Met1498Leu)
c.4060A>T (p.Met1354Leu)
c.4360A>T (p.Met1454Leu)
n.4811A>T
9g.104806288T>CCA374315540ABCA1c.4417A>G (p.Met1473Val)
c.4423A>G (p.Met1475Val)
c.4243A>G (p.Met1415Val)
c.4498A>G (p.Met1500Val)
c.4492A>G (p.Met1498Val)
c.4060A>G (p.Met1354Val)
c.4360A>G (p.Met1454Val)
n.4811A>G
9g.104806288T>GCA374315541ABCA1c.4417A>C (p.Met1473Leu)
c.4423A>C (p.Met1475Leu)
c.4243A>C (p.Met1415Leu)
c.4498A>C (p.Met1500Leu)
c.4492A>C (p.Met1498Leu)
c.4060A>C (p.Met1354Leu)
c.4360A>C (p.Met1454Leu)
n.4811A>C
 gnomAD v4
9g.104806289C>ACA197370897ABCA1c.4416G>T (p.Lys1472Asn)
c.4422G>T (p.Lys1474Asn)
c.4242G>T (p.Lys1414Asn)
c.4497G>T (p.Lys1499Asn)
c.4491G>T (p.Lys1497Asn)
c.4059G>T (p.Lys1353Asn)
c.4359G>T (p.Lys1453Asn)
n.4810G>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.104806289C=CA1869929708ABCA1c.4416G= (p.Lys1472=)
c.4422G= (p.Lys1474=)
c.4242G= (p.Lys1414=)
c.4497G= (p.Lys1499=)
c.4491G= (p.Lys1497=)
c.4059G= (p.Lys1353=)
c.4359G= (p.Lys1453=)
n.4810G=
9g.104806289C>GCA374315542ABCA1c.4416G>C (p.Lys1472Asn)
c.4422G>C (p.Lys1474Asn)
c.4242G>C (p.Lys1414Asn)
c.4497G>C (p.Lys1499Asn)
c.4491G>C (p.Lys1497Asn)
c.4059G>C (p.Lys1353Asn)
c.4359G>C (p.Lys1453Asn)
n.4810G>C
9g.104806289C>TCA466504324ABCA1c.4416G>A (p.Lys1472=)
c.4422G>A (p.Lys1474=)
c.4242G>A (p.Lys1414=)
c.4497G>A (p.Lys1499=)
c.4491G>A (p.Lys1497=)
c.4059G>A (p.Lys1353=)
c.4359G>A (p.Lys1453=)
n.4810G>A
9g.104806290T>ACA374315544ABCA1c.4415A>T (p.Lys1472Met)
c.4421A>T (p.Lys1474Met)
c.4241A>T (p.Lys1414Met)
c.4496A>T (p.Lys1499Met)
c.4490A>T (p.Lys1497Met)
c.4058A>T (p.Lys1353Met)
c.4358A>T (p.Lys1453Met)
n.4809A>T
 gnomAD v4
9g.104806290T>CCA374315545ABCA1c.4415A>G (p.Lys1472Arg)
c.4421A>G (p.Lys1474Arg)
c.4241A>G (p.Lys1414Arg)
c.4496A>G (p.Lys1499Arg)
c.4490A>G (p.Lys1497Arg)
c.4058A>G (p.Lys1353Arg)
c.4358A>G (p.Lys1453Arg)
n.4809A>G
9g.104806290T>GCA374315543ABCA1c.4415A>C (p.Lys1472Thr)
c.4421A>C (p.Lys1474Thr)
c.4241A>C (p.Lys1414Thr)
c.4496A>C (p.Lys1499Thr)
c.4490A>C (p.Lys1497Thr)
c.4058A>C (p.Lys1353Thr)
c.4358A>C (p.Lys1453Thr)
n.4809A>C
9g.104806291T>ACA374315546ABCA1c.4414A>T (p.Lys1472Ter)
c.4420A>T (p.Lys1474Ter)
c.4240A>T (p.Lys1414Ter)
c.4495A>T (p.Lys1499Ter)
c.4489A>T (p.Lys1497Ter)
c.4057A>T (p.Lys1353Ter)
c.4357A>T (p.Lys1453Ter)
n.4808A>T
9g.104806291T>CCA374315548ABCA1c.4414A>G (p.Lys1472Glu)
c.4420A>G (p.Lys1474Glu)
c.4240A>G (p.Lys1414Glu)
c.4495A>G (p.Lys1499Glu)
c.4489A>G (p.Lys1497Glu)
c.4057A>G (p.Lys1353Glu)
c.4357A>G (p.Lys1453Glu)
n.4808A>G
9g.104806291T>GCA374315547ABCA1c.4414A>C (p.Lys1472Gln)
c.4420A>C (p.Lys1474Gln)
c.4240A>C (p.Lys1414Gln)
c.4495A>C (p.Lys1499Gln)
c.4489A>C (p.Lys1497Gln)
c.4057A>C (p.Lys1353Gln)
c.4357A>C (p.Lys1453Gln)
n.4808A>C
9g.104806292C>ACA374315549ABCA1c.4413G>T (p.Lys1471Asn)
c.4419G>T (p.Lys1473Asn)
c.4239G>T (p.Lys1413Asn)
c.4494G>T (p.Lys1498Asn)
c.4488G>T (p.Lys1496Asn)
c.4056G>T (p.Lys1352Asn)
c.4356G>T (p.Lys1452Asn)
n.4807G>T
 COSMIC
9g.104806292C>GCA374315550ABCA1c.4413G>C (p.Lys1471Asn)
c.4419G>C (p.Lys1473Asn)
c.4239G>C (p.Lys1413Asn)
c.4494G>C (p.Lys1498Asn)
c.4488G>C (p.Lys1496Asn)
c.4056G>C (p.Lys1352Asn)
c.4356G>C (p.Lys1452Asn)
n.4807G>C
9g.104806292C>TCA466504328ABCA1c.4413G>A (p.Lys1471=)
c.4419G>A (p.Lys1473=)
c.4239G>A (p.Lys1413=)
c.4494G>A (p.Lys1498=)
c.4488G>A (p.Lys1496=)
c.4056G>A (p.Lys1352=)
c.4356G>A (p.Lys1452=)
n.4807G>A
9g.104806293T>ACA374315551ABCA1c.4412A>T (p.Lys1471Met)
c.4418A>T (p.Lys1473Met)
c.4238A>T (p.Lys1413Met)
c.4493A>T (p.Lys1498Met)
c.4487A>T (p.Lys1496Met)
c.4055A>T (p.Lys1352Met)
c.4355A>T (p.Lys1452Met)
n.4806A>T
9g.104806293T>CCA374315552ABCA1c.4412A>G (p.Lys1471Arg)
c.4418A>G (p.Lys1473Arg)
c.4238A>G (p.Lys1413Arg)
c.4493A>G (p.Lys1498Arg)
c.4487A>G (p.Lys1496Arg)
c.4055A>G (p.Lys1352Arg)
c.4355A>G (p.Lys1452Arg)
n.4806A>G
9g.104806293T>GCA374315553ABCA1c.4412A>C (p.Lys1471Thr)
c.4418A>C (p.Lys1473Thr)
c.4238A>C (p.Lys1413Thr)
c.4493A>C (p.Lys1498Thr)
c.4487A>C (p.Lys1496Thr)
c.4055A>C (p.Lys1352Thr)
c.4355A>C (p.Lys1452Thr)
n.4806A>C
9g.104806294T>ACA374315554ABCA1c.4411A>T (p.Lys1471Ter)
c.4417A>T (p.Lys1473Ter)
c.4237A>T (p.Lys1413Ter)
c.4492A>T (p.Lys1498Ter)
c.4486A>T (p.Lys1496Ter)
c.4054A>T (p.Lys1352Ter)
c.4354A>T (p.Lys1452Ter)
n.4805A>T
9g.104806294T>CCA374315555ABCA1c.4411A>G (p.Lys1471Glu)
c.4417A>G (p.Lys1473Glu)
c.4237A>G (p.Lys1413Glu)
c.4492A>G (p.Lys1498Glu)
c.4486A>G (p.Lys1496Glu)
c.4054A>G (p.Lys1352Glu)
c.4354A>G (p.Lys1452Glu)
n.4805A>G
9g.104806294T>GCA374315556ABCA1c.4411A>C (p.Lys1471Gln)
c.4417A>C (p.Lys1473Gln)
c.4237A>C (p.Lys1413Gln)
c.4492A>C (p.Lys1498Gln)
c.4486A>C (p.Lys1496Gln)
c.4054A>C (p.Lys1352Gln)
c.4354A>C (p.Lys1452Gln)
n.4805A>C
9g.104806295G>ACA466504332ABCA1c.4410C>T (p.Ile1470=)
c.4416C>T (p.Ile1472=)
c.4236C>T (p.Ile1412=)
c.4491C>T (p.Ile1497=)
c.4485C>T (p.Ile1495=)
c.4053C>T (p.Ile1351=)
c.4353C>T (p.Ile1451=)
n.4804C>T
 gnomAD v4
9g.104806295G>CCA374315557ABCA1c.4410C>G (p.Ile1470Met)
c.4416C>G (p.Ile1472Met)
c.4236C>G (p.Ile1412Met)
c.4491C>G (p.Ile1497Met)
c.4485C>G (p.Ile1495Met)
c.4053C>G (p.Ile1351Met)
c.4353C>G (p.Ile1451Met)
n.4804C>G
 gnomAD v4
9g.104806295G=CA1869929711ABCA1c.4410C= (p.Ile1470=)
c.4416C= (p.Ile1472=)
c.4236C= (p.Ile1412=)
c.4491C= (p.Ile1497=)
c.4485C= (p.Ile1495=)
c.4053C= (p.Ile1351=)
c.4353C= (p.Ile1451=)
n.4804C=
9g.104806295G>TCA197370921ABCA1c.4410C>A (p.Ile1470=)
c.4416C>A (p.Ile1472=)
c.4236C>A (p.Ile1412=)
c.4491C>A (p.Ile1497=)
c.4485C>A (p.Ile1495=)
c.4053C>A (p.Ile1351=)
c.4353C>A (p.Ile1451=)
n.4804C>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.104806296A=CA1869929715ABCA1c.4409T= (p.Ile1470=)
c.4415T= (p.Ile1472=)
c.4235T= (p.Ile1412=)
c.4490T= (p.Ile1497=)
c.4484T= (p.Ile1495=)
c.4052T= (p.Ile1351=)
c.4352T= (p.Ile1451=)
n.4803T=
9g.104806296A>CCA374315558ABCA1c.4409T>G (p.Ile1470Ser)
c.4415T>G (p.Ile1472Ser)
c.4235T>G (p.Ile1412Ser)
c.4490T>G (p.Ile1497Ser)
c.4484T>G (p.Ile1495Ser)
c.4052T>G (p.Ile1351Ser)
c.4352T>G (p.Ile1451Ser)
n.4803T>G
9g.104806296A>GCA5168155ABCA1c.4409T>C (p.Ile1470Thr)
c.4415T>C (p.Ile1472Thr)
c.4235T>C (p.Ile1412Thr)
c.4490T>C (p.Ile1497Thr)
c.4484T>C (p.Ile1495Thr)
c.4052T>C (p.Ile1351Thr)
c.4352T>C (p.Ile1451Thr)
n.4803T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.104806296A>TCA374315559ABCA1c.4409T>A (p.Ile1470Asn)
c.4415T>A (p.Ile1472Asn)
c.4235T>A (p.Ile1412Asn)
c.4490T>A (p.Ile1497Asn)
c.4484T>A (p.Ile1495Asn)
c.4052T>A (p.Ile1351Asn)
c.4352T>A (p.Ile1451Asn)
n.4803T>A
9g.104806297T>ACA374315562ABCA1c.4408A>T (p.Ile1470Phe)
c.4414A>T (p.Ile1472Phe)
c.4234A>T (p.Ile1412Phe)
c.4489A>T (p.Ile1497Phe)
c.4483A>T (p.Ile1495Phe)
c.4051A>T (p.Ile1351Phe)
c.4351A>T (p.Ile1451Phe)
n.4802A>T
9g.104806297T>CCA374315561ABCA1c.4408A>G (p.Ile1470Val)
c.4414A>G (p.Ile1472Val)
c.4234A>G (p.Ile1412Val)
c.4489A>G (p.Ile1497Val)
c.4483A>G (p.Ile1495Val)
c.4051A>G (p.Ile1351Val)
c.4351A>G (p.Ile1451Val)
n.4802A>G
 gnomAD v4
9g.104806297T>GCA374315560ABCA1c.4408A>C (p.Ile1470Leu)
c.4414A>C (p.Ile1472Leu)
c.4234A>C (p.Ile1412Leu)
c.4489A>C (p.Ile1497Leu)
c.4483A>C (p.Ile1495Leu)
c.4051A>C (p.Ile1351Leu)
c.4351A>C (p.Ile1451Leu)
n.4802A>C
9g.104806300dupCA2570217935ABCA1c.4408dup (p.Ile1470AsnfsTer?)
c.4414dup (p.Ile1472AsnfsTer?)
c.4234dup (p.Ile1412AsnfsTer?)
c.4489dup (p.Ile1497AsnfsTer?)
c.4483dup (p.Ile1495AsnfsTer?)
c.4051dup (p.Ile1351AsnfsTer?)
c.4351dup (p.Ile1451AsnfsTer?)
n.4802dup
9g.104806298T>ACA374315563ABCA1c.4407A>T (p.Lys1469Asn)
c.4413A>T (p.Lys1471Asn)
c.4233A>T (p.Lys1411Asn)
c.4488A>T (p.Lys1496Asn)
c.4482A>T (p.Lys1494Asn)
c.4050A>T (p.Lys1350Asn)
c.4350A>T (p.Lys1450Asn)
n.4801A>T
 dbSNP gnomAD v4
9g.104806298T>CCA466504336ABCA1c.4407A>G (p.Lys1469=)
c.4413A>G (p.Lys1471=)
c.4233A>G (p.Lys1411=)
c.4488A>G (p.Lys1496=)
c.4482A>G (p.Lys1494=)
c.4050A>G (p.Lys1350=)
c.4350A>G (p.Lys1450=)
n.4801A>G
9g.104806298T>GCA374315564ABCA1c.4407A>C (p.Lys1469Asn)
c.4413A>C (p.Lys1471Asn)
c.4233A>C (p.Lys1411Asn)
c.4488A>C (p.Lys1496Asn)
c.4482A>C (p.Lys1494Asn)
c.4050A>C (p.Lys1350Asn)
c.4350A>C (p.Lys1450Asn)
n.4801A>C
 gnomAD v4
9g.104806298T=CA1869929718ABCA1c.4407A= (p.Lys1469=)
c.4413A= (p.Lys1471=)
c.4233A= (p.Lys1411=)
c.4488A= (p.Lys1496=)
c.4482A= (p.Lys1494=)
c.4050A= (p.Lys1350=)
c.4350A= (p.Lys1450=)
n.4801A=
9g.104806299T>ACA374315565ABCA1c.4406A>T (p.Lys1469Ile)
c.4412A>T (p.Lys1471Ile)
c.4232A>T (p.Lys1411Ile)
c.4487A>T (p.Lys1496Ile)
c.4481A>T (p.Lys1494Ile)
c.4049A>T (p.Lys1350Ile)
c.4349A>T (p.Lys1450Ile)
n.4800A>T
9g.104806299T>CCA374315566ABCA1c.4406A>G (p.Lys1469Arg)
c.4412A>G (p.Lys1471Arg)
c.4232A>G (p.Lys1411Arg)
c.4487A>G (p.Lys1496Arg)
c.4481A>G (p.Lys1494Arg)
c.4049A>G (p.Lys1350Arg)
c.4349A>G (p.Lys1450Arg)
n.4800A>G
9g.104806299T>GCA374315567ABCA1c.4406A>C (p.Lys1469Thr)
c.4412A>C (p.Lys1471Thr)
c.4232A>C (p.Lys1411Thr)
c.4487A>C (p.Lys1496Thr)
c.4481A>C (p.Lys1494Thr)
c.4049A>C (p.Lys1350Thr)
c.4349A>C (p.Lys1450Thr)
n.4800A>C
9g.104806300T>ACA374315568ABCA1c.4405A>T (p.Lys1469Ter)
c.4411A>T (p.Lys1471Ter)
c.4231A>T (p.Lys1411Ter)
c.4486A>T (p.Lys1496Ter)
c.4480A>T (p.Lys1494Ter)
c.4048A>T (p.Lys1350Ter)
c.4348A>T (p.Lys1450Ter)
n.4799A>T
9g.104806300T>CCA5168156ABCA1c.4405A>G (p.Lys1469Glu)
c.4411A>G (p.Lys1471Glu)
c.4231A>G (p.Lys1411Glu)
c.4486A>G (p.Lys1496Glu)
c.4480A>G (p.Lys1494Glu)
c.4048A>G (p.Lys1350Glu)
c.4348A>G (p.Lys1450Glu)
n.4799A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.104806300T>GCA374315569ABCA1c.4405A>C (p.Lys1469Gln)
c.4411A>C (p.Lys1471Gln)
c.4231A>C (p.Lys1411Gln)
c.4486A>C (p.Lys1496Gln)
c.4480A>C (p.Lys1494Gln)
c.4048A>C (p.Lys1350Gln)
c.4348A>C (p.Lys1450Gln)
n.4799A>C
9g.104806300T=CA1869929725ABCA1c.4405A= (p.Lys1469=)
c.4411A= (p.Lys1471=)
c.4231A= (p.Lys1411=)
c.4486A= (p.Lys1496=)
c.4480A= (p.Lys1494=)
c.4048A= (p.Lys1350=)
c.4348A= (p.Lys1450=)
n.4799A=
9g.104806301G>ACA5168157ABCA1c.4404C>T (p.Asp1468=)
c.4410C>T (p.Asp1470=)
c.4230C>T (p.Asp1410=)
c.4485C>T (p.Asp1495=)
c.4479C>T (p.Asp1493=)
c.4047C>T (p.Asp1349=)
c.4347C>T (p.Asp1449=)
n.4798C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.104806301G>CCA374315570ABCA1c.4404C>G (p.Asp1468Glu)
c.4410C>G (p.Asp1470Glu)
c.4230C>G (p.Asp1410Glu)
c.4485C>G (p.Asp1495Glu)
c.4479C>G (p.Asp1493Glu)
c.4047C>G (p.Asp1349Glu)
c.4347C>G (p.Asp1449Glu)
n.4798C>G
9g.104806301G=CA1869929730ABCA1c.4404C= (p.Asp1468=)
c.4410C= (p.Asp1470=)
c.4230C= (p.Asp1410=)
c.4485C= (p.Asp1495=)
c.4479C= (p.Asp1493=)
c.4047C= (p.Asp1349=)
c.4347C= (p.Asp1449=)
n.4798C=
9g.104806301G>TCA374315571ABCA1c.4404C>A (p.Asp1468Glu)
c.4410C>A (p.Asp1470Glu)
c.4230C>A (p.Asp1410Glu)
c.4485C>A (p.Asp1495Glu)
c.4479C>A (p.Asp1493Glu)
c.4047C>A (p.Asp1349Glu)
c.4347C>A (p.Asp1449Glu)
n.4798C>A
 dbSNP gnomAD v2 gnomAD v4
9g.104806302T>ACA374315573ABCA1c.4403A>T (p.Asp1468Val)
c.4409A>T (p.Asp1470Val)
c.4229A>T (p.Asp1410Val)
c.4484A>T (p.Asp1495Val)
c.4478A>T (p.Asp1493Val)
c.4046A>T (p.Asp1349Val)
c.4346A>T (p.Asp1449Val)
n.4797A>T
9g.104806302T>CCA374315574ABCA1c.4403A>G (p.Asp1468Gly)
c.4409A>G (p.Asp1470Gly)
c.4229A>G (p.Asp1410Gly)
c.4484A>G (p.Asp1495Gly)
c.4478A>G (p.Asp1493Gly)
c.4046A>G (p.Asp1349Gly)
c.4346A>G (p.Asp1449Gly)
n.4797A>G
9g.104806302T>GCA374315572ABCA1c.4403A>C (p.Asp1468Ala)
c.4409A>C (p.Asp1470Ala)
c.4229A>C (p.Asp1410Ala)
c.4484A>C (p.Asp1495Ala)
c.4478A>C (p.Asp1493Ala)
c.4046A>C (p.Asp1349Ala)
c.4346A>C (p.Asp1449Ala)
n.4797A>C
9g.104806303C>ACA374315575ABCA1c.4402G>T (p.Asp1468Tyr)
c.4408G>T (p.Asp1470Tyr)
c.4228G>T (p.Asp1410Tyr)
c.4483G>T (p.Asp1495Tyr)
c.4477G>T (p.Asp1493Tyr)
c.4045G>T (p.Asp1349Tyr)
c.4345G>T (p.Asp1449Tyr)
n.4796G>T
 ClinVar
9g.104806303C=CA1869929735ABCA1c.4402G= (p.Asp1468=)
c.4408G= (p.Asp1470=)
c.4228G= (p.Asp1410=)
c.4483G= (p.Asp1495=)
c.4477G= (p.Asp1493=)
c.4045G= (p.Asp1349=)
c.4345G= (p.Asp1449=)
n.4796G=
9g.104806303C>GCA374315576ABCA1c.4402G>C (p.Asp1468His)
c.4408G>C (p.Asp1470His)
c.4228G>C (p.Asp1410His)
c.4483G>C (p.Asp1495His)
c.4477G>C (p.Asp1493His)
c.4045G>C (p.Asp1349His)
c.4345G>C (p.Asp1449His)
n.4796G>C
9g.104806303C>TCA374315577ABCA1c.4402G>A (p.Asp1468Asn)
c.4408G>A (p.Asp1470Asn)
c.4228G>A (p.Asp1410Asn)
c.4483G>A (p.Asp1495Asn)
c.4477G>A (p.Asp1493Asn)
c.4045G>A (p.Asp1349Asn)
c.4345G>A (p.Asp1449Asn)
n.4796G>A
 dbSNP gnomAD v3 gnomAD v4 COSMIC
9g.104806304G>ACA5168158ABCA1c.4401C>T (p.Ser1467=)
c.4407C>T (p.Ser1469=)
c.4227C>T (p.Ser1409=)
c.4482C>T (p.Ser1494=)
c.4476C>T (p.Ser1492=)
c.4044C>T (p.Ser1348=)
c.4344C>T (p.Ser1448=)
n.4795C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.104806304G>CCA374315578ABCA1c.4401C>G (p.Ser1467Arg)
c.4407C>G (p.Ser1469Arg)
c.4227C>G (p.Ser1409Arg)
c.4482C>G (p.Ser1494Arg)
c.4476C>G (p.Ser1492Arg)
c.4044C>G (p.Ser1348Arg)
c.4344C>G (p.Ser1448Arg)
n.4795C>G
9g.104806304G=CA1869929736ABCA1c.4401C= (p.Ser1467=)
c.4407C= (p.Ser1469=)
c.4227C= (p.Ser1409=)
c.4482C= (p.Ser1494=)
c.4476C= (p.Ser1492=)
c.4044C= (p.Ser1348=)
c.4344C= (p.Ser1448=)
n.4795C=
9g.104806304G>TCA374315579ABCA1c.4401C>A (p.Ser1467Arg)
c.4407C>A (p.Ser1469Arg)
c.4227C>A (p.Ser1409Arg)
c.4482C>A (p.Ser1494Arg)
c.4476C>A (p.Ser1492Arg)
c.4044C>A (p.Ser1348Arg)
c.4344C>A (p.Ser1448Arg)
n.4795C>A
9g.104806305C>ACA374315580ABCA1c.4400G>T (p.Ser1467Ile)
c.4406G>T (p.Ser1469Ile)
c.4226G>T (p.Ser1409Ile)
c.4481G>T (p.Ser1494Ile)
c.4475G>T (p.Ser1492Ile)
c.4043G>T (p.Ser1348Ile)
c.4343G>T (p.Ser1448Ile)
n.4794G>T
9g.104806305C=CA1869929737ABCA1c.4400G= (p.Ser1467=)
c.4406G= (p.Ser1469=)
c.4226G= (p.Ser1409=)
c.4481G= (p.Ser1494=)
c.4475G= (p.Ser1492=)
c.4043G= (p.Ser1348=)
c.4343G= (p.Ser1448=)
n.4794G=
9g.104806305C>GCA374315581ABCA1c.4400G>C (p.Ser1467Thr)
c.4406G>C (p.Ser1469Thr)
c.4226G>C (p.Ser1409Thr)
c.4481G>C (p.Ser1494Thr)
c.4475G>C (p.Ser1492Thr)
c.4043G>C (p.Ser1348Thr)
c.4343G>C (p.Ser1448Thr)
n.4794G>C
9g.104806305C>TCA5168159ABCA1c.4400G>A (p.Ser1467Asn)
c.4406G>A (p.Ser1469Asn)
c.4226G>A (p.Ser1409Asn)
c.4481G>A (p.Ser1494Asn)
c.4475G>A (p.Ser1492Asn)
c.4043G>A (p.Ser1348Asn)
c.4343G>A (p.Ser1448Asn)
n.4794G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104806306T>ACA374315582ABCA1c.4399A>T (p.Ser1467Cys)
c.4405A>T (p.Ser1469Cys)
c.4225A>T (p.Ser1409Cys)
c.4480A>T (p.Ser1494Cys)
c.4474A>T (p.Ser1492Cys)
c.4042A>T (p.Ser1348Cys)
c.4342A>T (p.Ser1448Cys)
n.4793A>T
9g.104806306T>CCA374315583ABCA1c.4399A>G (p.Ser1467Gly)
c.4405A>G (p.Ser1469Gly)
c.4225A>G (p.Ser1409Gly)
c.4480A>G (p.Ser1494Gly)
c.4474A>G (p.Ser1492Gly)
c.4042A>G (p.Ser1348Gly)
c.4342A>G (p.Ser1448Gly)
n.4793A>G
 dbSNP
9g.104806306T>GCA374315584ABCA1c.4399A>C (p.Ser1467Arg)
c.4405A>C (p.Ser1469Arg)
c.4225A>C (p.Ser1409Arg)
c.4480A>C (p.Ser1494Arg)
c.4474A>C (p.Ser1492Arg)
c.4042A>C (p.Ser1348Arg)
c.4342A>C (p.Ser1448Arg)
n.4793A>C
9g.104806306T=CA1869929741ABCA1c.4399A= (p.Ser1467=)
c.4405A= (p.Ser1469=)
c.4225A= (p.Ser1409=)
c.4480A= (p.Ser1494=)
c.4474A= (p.Ser1492=)
c.4042A= (p.Ser1348=)
c.4342A= (p.Ser1448=)
n.4793A=
9g.104806307G>ACA466504341ABCA1c.4398C>T (p.Ser1466=)
c.4404C>T (p.Ser1468=)
c.4224C>T (p.Ser1408=)
c.4479C>T (p.Ser1493=)
c.4473C>T (p.Ser1491=)
c.4041C>T (p.Ser1347=)
c.4341C>T (p.Ser1447=)
n.4792C>T
9g.104806307G>CCA374315586ABCA1c.4398C>G (p.Ser1466Arg)
c.4404C>G (p.Ser1468Arg)
c.4224C>G (p.Ser1408Arg)
c.4479C>G (p.Ser1493Arg)
c.4473C>G (p.Ser1491Arg)
c.4041C>G (p.Ser1347Arg)
c.4341C>G (p.Ser1447Arg)
n.4792C>G
9g.104806307G>TCA374315585ABCA1c.4398C>A (p.Ser1466Arg)
c.4404C>A (p.Ser1468Arg)
c.4224C>A (p.Ser1408Arg)
c.4479C>A (p.Ser1493Arg)
c.4473C>A (p.Ser1491Arg)
c.4041C>A (p.Ser1347Arg)
c.4341C>A (p.Ser1447Arg)
n.4792C>A

Number of alleles fetched