Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.219218055_219218071dupCA2663214417ABCB6,ATG9Ac.549+54_549+70dup (n.549+54_549+70dup)
c.230+54_230+70dup
c.302+54_302+70dup
c.3088+54_3088+70dup
c.352+54_352+70dup
c.66+54_66+70dup (n.66+54_66+70dup)
 gnomAD v4
2g.219218066C>ACA2663214456ABCB6,ATG9Ac.549+59G>T (n.549+59G>T)
c.230+59G>T
c.302+59G>T
c.3088+59G>T
c.352+59G>T
c.66+59G>T (n.66+59G>T)
 gnomAD v4
2g.219218066C>TCA2511389663ABCB6,ATG9Ac.549+59G>A (n.549+59G>A)
c.230+59G>A
c.302+59G>A
c.3088+59G>A
c.352+59G>A
c.66+59G>A (n.66+59G>A)
 gnomAD v4
2g.219218067A>TCA2577249751ABCB6,ATG9Ac.549+58T>A (n.549+58T>A)
c.230+58T>A
c.302+58T>A
c.3088+58T>A
c.352+58T>A
c.66+58T>A (n.66+58T>A)
 gnomAD v4
2g.219218068G>ACA1329115420ABCB6,ATG9Ac.549+57C>T (n.549+57C>T)
c.230+57C>T
c.302+57C>T
c.3088+57C>T
c.352+57C>T
c.66+57C>T (n.66+57C>T)
 dbSNP gnomAD v3 gnomAD v4
2g.219218068G=CA1329115419ABCB6,ATG9Ac.549+57C= (n.549+57C=)
c.230+57C=
c.302+57C=
c.3088+57C=
c.352+57C=
c.66+57C= (n.66+57C=)
2g.219218069T>ACA2663214462ABCB6,ATG9Ac.549+56A>T (n.549+56A>T)
c.230+56A>T
c.302+56A>T
c.3088+56A>T
c.352+56A>T
c.66+56A>T (n.66+56A>T)
 gnomAD v4
2g.219218071C>ACA2663214465ABCB6,ATG9Ac.549+54G>T (n.549+54G>T)
c.230+54G>T
c.302+54G>T
c.3088+54G>T
c.352+54G>T
c.66+54G>T (n.66+54G>T)
 gnomAD v4
2g.219218071C>TCA2663214464ABCB6,ATG9Ac.549+54G>A (n.549+54G>A)
c.230+54G>A
c.302+54G>A
c.3088+54G>A
c.352+54G>A
c.66+54G>A (n.66+54G>A)
 gnomAD v4
2g.219218072T>CCA2663214469ABCB6,ATG9Ac.549+53A>G (n.549+53A>G)
c.230+53A>G
c.302+53A>G
c.3088+53A>G
c.352+53A>G
c.66+53A>G (n.66+53A>G)
 gnomAD v4
2g.219218072T>GCA2550148066ABCB6,ATG9Ac.549+53A>C (n.549+53A>C)
c.230+53A>C
c.302+53A>C
c.3088+53A>C
c.352+53A>C
c.66+53A>C (n.66+53A>C)
 gnomAD v4
2g.219218075C=CA1329115421ABCB6,ATG9Ac.549+50G= (n.549+50G=)
c.230+50G=
c.302+50G=
c.3088+50G=
c.352+50G=
c.66+50G= (n.66+50G=)
2g.219218075C>TCA539842382ABCB6,ATG9Ac.549+50G>A (n.549+50G>A)
c.230+50G>A
c.302+50G>A
c.3088+50G>A
c.352+50G>A
c.66+50G>A (n.66+50G>A)
 dbSNP gnomAD v2 gnomAD v4
2g.219218077C>ACA2663214477ABCB6,ATG9Ac.549+48G>T (n.549+48G>T)
c.230+48G>T
c.302+48G>T
c.3088+48G>T
c.352+48G>T
c.66+48G>T (n.66+48G>T)
 gnomAD v4
2g.219218078C>ACA2663214482ABCB6,ATG9Ac.549+47G>T (n.549+47G>T)
c.230+47G>T
c.302+47G>T
c.3088+47G>T
c.352+47G>T
c.66+47G>T (n.66+47G>T)
 gnomAD v4
2g.219218078C=CA1329115422ABCB6,ATG9Ac.549+47G= (n.549+47G=)
c.230+47G=
c.302+47G=
c.3088+47G=
c.352+47G=
c.66+47G= (n.66+47G=)
2g.219218078C>TCA2119723ABCB6,ATG9Ac.549+47G>A (n.549+47G>A)
c.230+47G>A
c.302+47G>A
c.3088+47G>A
c.352+47G>A
c.66+47G>A (n.66+47G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.219218079C>ACA2663214489ABCB6,ATG9Ac.549+46G>T (n.549+46G>T)
c.230+46G>T
c.302+46G>T
c.3088+46G>T
c.352+46G>T
c.66+46G>T (n.66+46G>T)
 gnomAD v4
2g.219218079C=CA1329115423ABCB6,ATG9Ac.549+46G= (n.549+46G=)
c.230+46G=
c.302+46G=
c.3088+46G=
c.352+46G=
c.66+46G= (n.66+46G=)
2g.219218079C>GCA65953083ABCB6,ATG9Ac.549+46G>C (n.549+46G>C)
c.230+46G>C
c.302+46G>C
c.3088+46G>C
c.352+46G>C
c.66+46G>C (n.66+46G>C)
 dbSNP gnomAD v3 gnomAD v4
2g.219218079C>TCA2754319754ABCB6,ATG9Ac.549+46G>A (n.549+46G>A)
c.230+46G>A
c.302+46G>A
c.3088+46G>A
c.352+46G>A
c.66+46G>A (n.66+46G>A)
2g.219218080A=CA1329115424ABCB6,ATG9Ac.549+45T= (n.549+45T=)
c.230+45T=
c.302+45T=
c.3088+45T=
c.352+45T=
c.66+45T= (n.66+45T=)
2g.219218080A>CCA2119724ABCB6,ATG9Ac.549+45T>G (n.549+45T>G)
c.230+45T>G
c.302+45T>G
c.3088+45T>G
c.352+45T>G
c.66+45T>G (n.66+45T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.219218081A=CA1329115425ABCB6,ATG9Ac.549+44T= (n.549+44T=)
c.230+44T=
c.302+44T=
c.3088+44T=
c.352+44T=
c.66+44T= (n.66+44T=)
2g.219218081A>TCA1329115426ABCB6,ATG9Ac.549+44T>A (n.549+44T>A)
c.230+44T>A
c.302+44T>A
c.3088+44T>A
c.352+44T>A
c.66+44T>A (n.66+44T>A)
 dbSNP gnomAD v4
2g.219218082G=CA1329115427ABCB6,ATG9Ac.549+43C= (n.549+43C=)
c.230+43C=
c.302+43C=
c.3088+43C=
c.352+43C=
c.66+43C= (n.66+43C=)
2g.219218082G>TCA1042505838ABCB6,ATG9Ac.549+43C>A (n.549+43C>A)
c.230+43C>A
c.302+43C>A
c.3088+43C>A
c.352+43C>A
c.66+43C>A (n.66+43C>A)
 dbSNP gnomAD v3 gnomAD v4
2g.219218083C>ACA2663214495ABCB6,ATG9Ac.549+42G>T (n.549+42G>T)
c.230+42G>T
c.302+42G>T
c.3088+42G>T
c.352+42G>T
c.66+42G>T (n.66+42G>T)
 gnomAD v4
2g.219218083C>TCA2577249752ABCB6,ATG9Ac.549+42G>A (n.549+42G>A)
c.230+42G>A
c.302+42G>A
c.3088+42G>A
c.352+42G>A
c.66+42G>A (n.66+42G>A)
 gnomAD v4
2g.219218084C>ACA2663214499ABCB6,ATG9Ac.549+41G>T (n.549+41G>T)
c.230+41G>T
c.302+41G>T
c.3088+41G>T
c.352+41G>T
c.66+41G>T (n.66+41G>T)
 gnomAD v4
2g.219218085C>ACA539842383ABCB6,ATG9Ac.549+40G>T (n.549+40G>T)
c.230+40G>T
c.302+40G>T
c.3088+40G>T
c.352+40G>T
c.66+40G>T (n.66+40G>T)
 dbSNP gnomAD v2 gnomAD v4
2g.219218085C=CA1329115428ABCB6,ATG9Ac.549+40G= (n.549+40G=)
c.230+40G=
c.302+40G=
c.3088+40G=
c.352+40G=
c.66+40G= (n.66+40G=)
2g.219218085C>GCA2754319755ABCB6,ATG9Ac.549+40G>C (n.549+40G>C)
c.230+40G>C
c.302+40G>C
c.3088+40G>C
c.352+40G>C
c.66+40G>C (n.66+40G>C)
2g.219218085C>TCA2119725ABCB6,ATG9Ac.549+40G>A (n.549+40G>A)
c.230+40G>A
c.302+40G>A
c.3088+40G>A
c.352+40G>A
c.66+40G>A (n.66+40G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.219218086G>ACA1329115430ABCB6,ATG9Ac.549+39C>T (n.549+39C>T)
c.230+39C>T
c.302+39C>T
c.3088+39C>T
c.352+39C>T
c.66+39C>T (n.66+39C>T)
 dbSNP gnomAD v4
2g.219218086G>CCA2119726ABCB6,ATG9Ac.549+39C>G (n.549+39C>G)
c.230+39C>G
c.302+39C>G
c.3088+39C>G
c.352+39C>G
c.66+39C>G (n.66+39C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.219218086G=CA1329115429ABCB6,ATG9Ac.549+39C= (n.549+39C=)
c.230+39C=
c.302+39C=
c.3088+39C=
c.352+39C=
c.66+39C= (n.66+39C=)
2g.219218088C=CA1329115431ABCB6,ATG9Ac.549+37G= (n.549+37G=)
c.230+37G=
c.302+37G=
c.3088+37G=
c.352+37G=
c.66+37G= (n.66+37G=)
2g.219218088C>TCA539842384ABCB6,ATG9Ac.549+37G>A (n.549+37G>A)
c.230+37G>A
c.302+37G>A
c.3088+37G>A
c.352+37G>A
c.66+37G>A (n.66+37G>A)
 dbSNP gnomAD v2 gnomAD v4
2g.219218089C>ACA539842385ABCB6,ATG9Ac.549+36G>T (n.549+36G>T)
c.230+36G>T
c.302+36G>T
c.3088+36G>T
c.352+36G>T
c.66+36G>T (n.66+36G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.219218089C=CA1329115432ABCB6,ATG9Ac.549+36G= (n.549+36G=)
c.230+36G=
c.302+36G=
c.3088+36G=
c.352+36G=
c.66+36G= (n.66+36G=)
2g.219218089C>TCA1042505841ABCB6,ATG9Ac.549+36G>A (n.549+36G>A)
c.230+36G>A
c.302+36G>A
c.3088+36G>A
c.352+36G>A
c.66+36G>A (n.66+36G>A)
 dbSNP gnomAD v3 gnomAD v4
2g.219218090A=CA1329115433ABCB6,ATG9Ac.549+35T= (n.549+35T=)
c.230+35T=
c.302+35T=
c.3088+35T=
c.352+35T=
c.66+35T= (n.66+35T=)
2g.219218090A>GCA2119727ABCB6,ATG9Ac.549+35T>C (n.549+35T>C)
c.230+35T>C
c.302+35T>C
c.3088+35T>C
c.352+35T>C
c.66+35T>C (n.66+35T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.219218090A>TCA539842386ABCB6,ATG9Ac.549+35T>A (n.549+35T>A)
c.230+35T>A
c.302+35T>A
c.3088+35T>A
c.352+35T>A
c.66+35T>A (n.66+35T>A)
 dbSNP gnomAD v2 gnomAD v4
2g.219218091G>ACA2577249753ABCB6,ATG9Ac.549+34C>T (n.549+34C>T)
c.230+34C>T
c.302+34C>T
c.3088+34C>T
c.352+34C>T
c.66+34C>T (n.66+34C>T)
 gnomAD v4
2g.219218092C>ACA2663214548ABCB6,ATG9Ac.549+33G>T (n.549+33G>T)
c.230+33G>T
c.302+33G>T
c.3088+33G>T
c.352+33G>T
c.66+33G>T (n.66+33G>T)
 gnomAD v4
2g.219218092C>TCA2663214551ABCB6,ATG9Ac.549+33G>A (n.549+33G>A)
c.230+33G>A
c.302+33G>A
c.3088+33G>A
c.352+33G>A
c.66+33G>A (n.66+33G>A)
 gnomAD v4
2g.219218093A=CA1329115434ABCB6,ATG9Ac.549+32T= (n.549+32T=)
c.230+32T=
c.302+32T=
c.3088+32T=
c.352+32T=
c.66+32T= (n.66+32T=)
2g.219218093A>GCA2119729ABCB6,ATG9Ac.549+32T>C (n.549+32T>C)
c.230+32T>C
c.302+32T>C
c.3088+32T>C
c.352+32T>C
c.66+32T>C (n.66+32T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched