Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.104806196del | CA2579406702 | ABCA1 | c.4464+47del (n.4464+47del) c.4470+47del (n.4470+47del) c.4290+47del (n.4290+47del) c.4545+47del (n.4545+47del) c.4539+47del (n.4539+47del) c.4107+47del (n.4107+47del) c.4407+47del (n.4407+47del) n.4858+47del | |
9 | g.104806195C>A | CA2579406703 | ABCA1 | c.4464+46G>T (n.4464+46G>T) c.4470+46G>T (n.4470+46G>T) c.4290+46G>T (n.4290+46G>T) c.4545+46G>T (n.4545+46G>T) c.4539+46G>T (n.4539+46G>T) c.4107+46G>T (n.4107+46G>T) c.4407+46G>T (n.4407+46G>T) n.4858+46G>T | gnomAD v4 |
9 | g.104806196C>A | CA2841436240 | ABCA1 | c.4464+45G>T (n.4464+45G>T) c.4470+45G>T (n.4470+45G>T) c.4290+45G>T (n.4290+45G>T) c.4545+45G>T (n.4545+45G>T) c.4539+45G>T (n.4539+45G>T) c.4107+45G>T (n.4107+45G>T) c.4407+45G>T (n.4407+45G>T) n.4858+45G>T | |
9 | g.104806199C>A | CA2691051831 | ABCA1 | c.4464+42G>T (n.4464+42G>T) c.4470+42G>T (n.4470+42G>T) c.4290+42G>T (n.4290+42G>T) c.4545+42G>T (n.4545+42G>T) c.4539+42G>T (n.4539+42G>T) c.4107+42G>T (n.4107+42G>T) c.4407+42G>T (n.4407+42G>T) n.4858+42G>T | gnomAD v4 |
9 | g.104806199C= | CA1869929380 | ABCA1 | c.4464+42G= (n.4464+42G=) c.4470+42G= (n.4470+42G=) c.4290+42G= (n.4290+42G=) c.4545+42G= (n.4545+42G=) c.4539+42G= (n.4539+42G=) c.4107+42G= (n.4107+42G=) c.4407+42G= (n.4407+42G=) n.4858+42G= | |
9 | g.104806199C>T | CA5168137 | ABCA1 | c.4464+42G>A (n.4464+42G>A) c.4470+42G>A (n.4470+42G>A) c.4290+42G>A (n.4290+42G>A) c.4545+42G>A (n.4545+42G>A) c.4539+42G>A (n.4539+42G>A) c.4107+42G>A (n.4107+42G>A) c.4407+42G>A (n.4407+42G>A) n.4858+42G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.104806200dup | CA2691051830 | ABCA1 | c.4464+42dup (n.4464+42dup) c.4470+42dup (n.4470+42dup) c.4290+42dup (n.4290+42dup) c.4545+42dup (n.4545+42dup) c.4539+42dup (n.4539+42dup) c.4107+42dup (n.4107+42dup) c.4407+42dup (n.4407+42dup) n.4858+42dup | gnomAD v4 |
9 | g.104806201T>C | CA2691051832 | ABCA1 | c.4464+40A>G (n.4464+40A>G) c.4470+40A>G (n.4470+40A>G) c.4290+40A>G (n.4290+40A>G) c.4545+40A>G (n.4545+40A>G) c.4539+40A>G (n.4539+40A>G) c.4107+40A>G (n.4107+40A>G) c.4407+40A>G (n.4407+40A>G) n.4858+40A>G | gnomAD v4 |
9 | g.104806202G>C | CA2691051833 | ABCA1 | c.4464+39C>G (n.4464+39C>G) c.4470+39C>G (n.4470+39C>G) c.4290+39C>G (n.4290+39C>G) c.4545+39C>G (n.4545+39C>G) c.4539+39C>G (n.4539+39C>G) c.4107+39C>G (n.4107+39C>G) c.4407+39C>G (n.4407+39C>G) n.4858+39C>G | gnomAD v4 |
9 | g.104806204A= | CA1869929383 | ABCA1 | c.4464+37T= (n.4464+37T=) c.4470+37T= (n.4470+37T=) c.4290+37T= (n.4290+37T=) c.4545+37T= (n.4545+37T=) c.4539+37T= (n.4539+37T=) c.4107+37T= (n.4107+37T=) c.4407+37T= (n.4407+37T=) n.4858+37T= | |
9 | g.104806204A>C | CA5168138 | ABCA1 | c.4464+37T>G (n.4464+37T>G) c.4470+37T>G (n.4470+37T>G) c.4290+37T>G (n.4290+37T>G) c.4545+37T>G (n.4545+37T>G) c.4539+37T>G (n.4539+37T>G) c.4107+37T>G (n.4107+37T>G) c.4407+37T>G (n.4407+37T>G) n.4858+37T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.104806204_104806205delinsAC | CA1869929385 | ABCA1 | c.4464+36_4464+37delinsGT (n.4464+36_4464+37delinsGT) c.4470+36_4470+37delinsGT (n.4470+36_4470+37delinsGT) c.4290+36_4290+37delinsGT (n.4290+36_4290+37delinsGT) c.4545+36_4545+37delinsGT (n.4545+36_4545+37delinsGT) c.4539+36_4539+37delinsGT (n.4539+36_4539+37delinsGT) c.4107+36_4107+37delinsGT (n.4107+36_4107+37delinsGT) c.4407+36_4407+37delinsGT (n.4407+36_4407+37delinsGT) n.4858+36_4858+37delinsGT | |
9 | g.104806205C>A | CA2579406704 | ABCA1 | c.4464+36G>T (n.4464+36G>T) c.4470+36G>T (n.4470+36G>T) c.4290+36G>T (n.4290+36G>T) c.4545+36G>T (n.4545+36G>T) c.4539+36G>T (n.4539+36G>T) c.4107+36G>T (n.4107+36G>T) c.4407+36G>T (n.4407+36G>T) n.4858+36G>T | |
9 | g.104806205C= | CA1869929425 | ABCA1 | c.4464+36G= (n.4464+36G=) c.4470+36G= (n.4470+36G=) c.4290+36G= (n.4290+36G=) c.4545+36G= (n.4545+36G=) c.4539+36G= (n.4539+36G=) c.4107+36G= (n.4107+36G=) c.4407+36G= (n.4407+36G=) n.4858+36G= | |
9 | g.104806205C>T | CA589835858 | ABCA1 | c.4464+36G>A (n.4464+36G>A) c.4470+36G>A (n.4470+36G>A) c.4290+36G>A (n.4290+36G>A) c.4545+36G>A (n.4545+36G>A) c.4539+36G>A (n.4539+36G>A) c.4107+36G>A (n.4107+36G>A) c.4407+36G>A (n.4407+36G>A) n.4858+36G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.104806208del | CA1869929422 | ABCA1 | c.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 |
9 | g.104806206C>A | CA2691051834 | ABCA1 | c.4464+35G>T (n.4464+35G>T) c.4470+35G>T (n.4470+35G>T) c.4290+35G>T (n.4290+35G>T) c.4545+35G>T (n.4545+35G>T) c.4539+35G>T (n.4539+35G>T) c.4107+35G>T (n.4107+35G>T) c.4407+35G>T (n.4407+35G>T) n.4858+35G>T | gnomAD v4 |
9 | g.104806207C= | CA1869929434 | ABCA1 | c.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= | |
9 | g.104806207C>T | CA5168139 | ABCA1 | c.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 |
9 | g.104806208C>A | CA1869929440 | ABCA1 | c.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 |
9 | g.104806208C= | CA1869929438 | ABCA1 | c.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= | |
9 | g.104806208C>G | CA5168140 | ABCA1 | c.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 |
9 | g.104806208C>T | CA1869929445 | ABCA1 | c.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 |
9 | g.104806209T>G | CA1869929463 | ABCA1 | c.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 |
9 | g.104806209T= | CA1869929465 | ABCA1 | c.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= | |
9 | g.104806210T>C | CA589835864 | ABCA1 | c.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 |
9 | g.104806210T= | CA1869929469 | ABCA1 | c.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= | |
9 | g.104806212T>C | CA5168141 | ABCA1 | c.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 |
9 | g.104806212T= | CA1869929476 | ABCA1 | c.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= | |
9 | g.104806213dup | CA2839123278 | ABCA1 | c.4464+28dup (n.4464+28dup) c.4470+28dup (n.4470+28dup) c.4290+28dup (n.4290+28dup) c.4545+28dup (n.4545+28dup) c.4539+28dup (n.4539+28dup) c.4107+28dup (n.4107+28dup) c.4407+28dup (n.4407+28dup) n.4858+28dup | |
9 | g.104806214C= | CA1869929478 | ABCA1 | c.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= | |
9 | g.104806214C>T | CA1127653180 | ABCA1 | c.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 |
9 | g.104806215C= | CA1869929480 | ABCA1 | c.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= | |
9 | g.104806215C>G | CA5168142 | ABCA1 | c.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 |
9 | g.104806216C>A | CA2691051835 | ABCA1 | c.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 |
9 | g.104806217A>G | CA2579406705 | ABCA1 | c.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 | |
9 | g.104806218A= | CA1869929484 | ABCA1 | c.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= | |
9 | g.104806218A>G | CA197370826 | ABCA1 | c.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 |
9 | g.104806219T>C | CA5168143 | ABCA1 | c.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 |
9 | g.104806219T= | CA1869929489 | ABCA1 | c.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= | |
9 | g.104806220C>A | CA2691051836 | ABCA1 | c.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 |
9 | g.104806220C>T | CA2691051837 | ABCA1 | c.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 |
9 | g.104806221A= | CA1869929495 | ABCA1 | c.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= | |
9 | g.104806221A>C | CA1869929497 | ABCA1 | c.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 |
9 | g.104806221A>G | CA2691051839 | ABCA1 | c.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 |
9 | g.104806221A>T | CA2691051838 | ABCA1 | c.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 |
9 | g.104806221_104806222delinsAC | CA1869929492 | ABCA1 | c.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 | |
9 | g.104806222C>A | CA1869929506 | ABCA1 | c.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 |
9 | g.104806222C= | CA1869929510 | ABCA1 | c.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= | |
9 | g.104806226dup | CA2691051840 | ABCA1 | c.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 |
9 | g.104806226del | CA5168144 | ABCA1 | c.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 |
9 | g.104806223C>A | CA2720365883 | ABCA1 | c.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 |
9 | g.104806223C>T | CA2691051841 | ABCA1 | c.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 |
9 | g.104806224C>A | CA589835875 | ABCA1 | c.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 |
9 | g.104806224C= | CA1869929517 | ABCA1 | c.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= | |
9 | g.104806225C>A | CA1869929521 | ABCA1 | c.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 |
9 | g.104806225C= | CA1869929519 | ABCA1 | c.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= | |
9 | g.104806225C>T | CA589835877 | ABCA1 | c.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 |
9 | g.104806226C>A | CA589835879 | ABCA1 | c.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 |
9 | g.104806226C= | CA1869929523 | ABCA1 | c.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= | |
9 | g.104806226C>G | CA1869929525 | ABCA1 | c.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 |
9 | g.104806227T>C | CA197370844 | ABCA1 | c.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 |
9 | g.104806227T>G | CA2691051842 | ABCA1 | c.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 |
9 | g.104806227T= | CA1869929528 | ABCA1 | c.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= | |
9 | g.104806229A= | CA1869929536 | ABCA1 | c.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= | |
9 | g.104806229A>G | CA5168145 | ABCA1 | c.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 |
9 | g.104806234G>A | CA5168146 | ABCA1 | c.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 |
9 | g.104806234G= | CA1869929541 | ABCA1 | c.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= | |
9 | g.104806236C= | CA1869929550 | ABCA1 | c.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= | |
9 | g.104806236C>T | CA589835887 | ABCA1 | c.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 |
9 | g.104806237T>C | CA2691051843 | ABCA1 | c.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 |
9 | g.104806238C= | CA1869929559 | ABCA1 | c.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= | |
9 | g.104806238C>G | CA5168147 | ABCA1 | c.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 |
9 | g.104806238C>T | CA1869929561 | ABCA1 | c.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 |
9 | g.104806239A= | CA1869929566 | ABCA1 | c.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= | |
9 | g.104806239A>C | CA374315441 | ABCA1 | c.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 | |
9 | g.104806239A>G | CA374315442 | ABCA1 | c.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 | |
9 | g.104806239A>T | CA374315443 | ABCA1 | c.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 |
9 | g.104806240C>A | CA374315446 | ABCA1 | c.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 | |
9 | g.104806240C>G | CA374315445 | ABCA1 | c.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 | |
9 | g.104806240C>T | CA374315444 | ABCA1 | c.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 | |
9 | g.104806241T>A | CA374315447 | ABCA1 | c.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 | |
9 | g.104806241T>C | CA466504266 | ABCA1 | c.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 |
9 | g.104806241T>G | CA374315448 | ABCA1 | c.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 | |
9 | g.104806242T>A | CA374315449 | ABCA1 | c.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 | |
9 | g.104806242T>C | CA374315450 | ABCA1 | c.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 |
9 | g.104806242T>G | CA374315451 | ABCA1 | c.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 | |
9 | g.104806243G>A | CA197370847 | ABCA1 | c.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 |
9 | g.104806243G>C | CA374315452 | ABCA1 | c.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 | |
9 | g.104806243G= | CA1869929572 | ABCA1 | c.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= | |
9 | g.104806243G>T | CA374315453 | ABCA1 | c.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 |
9 | g.104806244T>A | CA466504267 | ABCA1 | c.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 | |
9 | g.104806244T>C | CA466504268 | ABCA1 | c.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 |
9 | g.104806244T>G | CA466504269 | ABCA1 | c.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 | |
9 | g.104806244T= | CA1869929575 | ABCA1 | c.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= | |
9 | g.104806245G>A | CA374315454 | ABCA1 | c.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 |
9 | g.104806245G>C | CA374315455 | ABCA1 | c.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 | |
9 | g.104806245G>T | CA374315456 | ABCA1 | c.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 | |
9 | g.104806246G>A | CA374315457 | ABCA1 | c.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 | |
9 | g.104806246G>C | CA374315458 | ABCA1 | c.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 | |
9 | g.104806246G>T | CA374315459 | ABCA1 | c.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 | |
9 | g.104806247A>C | CA466504270 | ABCA1 | c.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 | |
9 | g.104806247A>G | CA466504271 | ABCA1 | c.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 | |
9 | g.104806247A>T | CA466504272 | ABCA1 | c.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 | |
9 | g.104806248G>A | CA374315461 | ABCA1 | c.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 |
9 | g.104806248G>C | CA374315462 | ABCA1 | c.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 | |
9 | g.104806248G>T | CA374315460 | ABCA1 | c.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 | |
9 | g.104806249G>A | CA197370848 | ABCA1 | c.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 |
9 | g.104806249G>C | CA374315463 | ABCA1 | c.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 |
9 | g.104806249G= | CA1869929582 | ABCA1 | c.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= | |
9 | g.104806249G>T | CA374315464 | ABCA1 | c.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 | |
9 | g.104806250A>C | CA466504273 | ABCA1 | c.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 | |
9 | g.104806250A>G | CA466504274 | ABCA1 | c.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 | |
9 | g.104806250A>T | CA466504275 | ABCA1 | c.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 | |
9 | g.104806251G>A | CA374315465 | ABCA1 | c.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 | |
9 | g.104806251G>C | CA374315466 | ABCA1 | c.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 | |
9 | g.104806251G>T | CA374315467 | ABCA1 | c.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 | |
9 | g.104806252G>A | CA374315468 | ABCA1 | c.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 |
9 | g.104806252G>C | CA374315469 | ABCA1 | c.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 | |
9 | g.104806252G= | CA1869929588 | ABCA1 | c.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= | |
9 | g.104806252G>T | CA374315470 | ABCA1 | c.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 | |
9 | g.104806253C>A | CA466504279 | ABCA1 | c.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 | |
9 | g.104806253C>G | CA466504280 | ABCA1 | c.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 | |
9 | g.104806253C>T | CA466504281 | ABCA1 | c.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 | |
9 | g.104806254A>C | CA374315471 | ABCA1 | c.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 | |
9 | g.104806254A>G | CA374315472 | ABCA1 | c.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 | |
9 | g.104806254A>T | CA374315473 | ABCA1 | c.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 | |
9 | g.104806255G>A | CA466504284 | ABCA1 | c.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 | |
9 | g.104806255G>C | CA374315474 | ABCA1 | c.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 |
9 | g.104806255G>T | CA374315475 | ABCA1 | c.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 | |
9 | g.104806255_104806256delinsGC | CA1869929595 | ABCA1 | c.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 | |
9 | g.104806256C>A | CA5168148 | ABCA1 | c.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 | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.104806256C= | CA1869929603 | ABCA1 | c.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= | |
9 | g.104806256C>G | CA466504285 | ABCA1 | c.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 | |
9 | g.104806256C>T | CA5168149 | ABCA1 | c.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 | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.104806261dup | CA2691051844 | ABCA1 | c.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 |
9 | g.104806261del | CA1869929601 | ABCA1 | c.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 |
9 | g.104806257C>A | CA374315476 | ABCA1 | c.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 | |
9 | g.104806257C>G | CA374315477 | ABCA1 | c.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 | |
9 | g.104806257C>T | CA374315478 | ABCA1 | c.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 |
9 | g.104806258C>A | CA374315479 | ABCA1 | c.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 | |
9 | g.104806258C>G | CA374315480 | ABCA1 | c.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 | |
9 | g.104806258C>T | CA374315481 | ABCA1 | c.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 | |
9 | g.104806259C>A | CA466504289 | ABCA1 | c.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 | |
9 | g.104806259C>G | CA466504288 | ABCA1 | c.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 | |
9 | g.104806259C>T | CA466504287 | ABCA1 | c.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 | |
9 | g.104806260C>A | CA374315482 | ABCA1 | c.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 |
9 | g.104806260C= | CA1869929608 | ABCA1 | c.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= | |
9 | g.104806260C>G | CA374315483 | ABCA1 | c.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 |
9 | g.104806260C>T | CA374315484 | ABCA1 | c.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 |
9 | g.104806261C>A | CA374315485 | ABCA1 | c.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 | |
9 | g.104806261C= | CA1869929615 | ABCA1 | c.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= | |
9 | g.104806261C>G | CA374315486 | ABCA1 | c.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 |
9 | g.104806261C>T | CA374315487 | ABCA1 | c.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 |
9 | g.104806262T>A | CA466504290 | ABCA1 | c.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 | |
9 | g.104806262T>C | CA466504293 | ABCA1 | c.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 |
9 | g.104806262T>G | CA466504291 | ABCA1 | c.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 | |
9 | g.104806263G>A | CA374315490 | ABCA1 | c.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 |
9 | g.104806263G>C | CA374315488 | ABCA1 | c.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 |
9 | g.104806263G= | CA1869929620 | ABCA1 | c.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= | |
9 | g.104806263G>T | CA374315489 | ABCA1 | c.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 |
9 | g.104806264C>A | CA374315491 | ABCA1 | c.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 | |
9 | g.104806264C>G | CA374315493 | ABCA1 | c.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 | |
9 | g.104806264C>T | CA374315492 | ABCA1 | c.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 | |
9 | g.104806265C>A | CA5168150 | ABCA1 | c.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 |
9 | g.104806265C= | CA1869929633 | ABCA1 | c.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= | |
9 | g.104806265C>G | CA466504297 | ABCA1 | c.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 | |
9 | g.104806265C>T | CA5168151 | ABCA1 | c.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 |
9 | g.104806266C>A | CA374315494 | ABCA1 | c.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 | |
9 | g.104806266C= | CA1869929638 | ABCA1 | c.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= | |
9 | g.104806266C>G | CA5168152 | ABCA1 | c.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 |
9 | g.104806266C>T | CA374315495 | ABCA1 | c.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 |
9 | g.104806267C>A | CA374315496 | ABCA1 | c.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 | |
9 | g.104806267C>G | CA374315497 | ABCA1 | c.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 | |
9 | g.104806267C>T | CA374315498 | ABCA1 | c.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 |
9 | g.104806268T>A | CA466504300 | ABCA1 | c.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 | |
9 | g.104806268T>C | CA466504302 | ABCA1 | c.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 |
9 | g.104806268T>G | CA466504303 | ABCA1 | c.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 | |
9 | g.104806269G>A | CA374315499 | ABCA1 | c.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 |
9 | g.104806269G>C | CA374315500 | ABCA1 | c.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 | |
9 | g.104806269G= | CA1869929646 | ABCA1 | c.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= | |
9 | g.104806269G>T | CA374315501 | ABCA1 | c.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 |
9 | g.104806273dup | CA2691051845 | ABCA1 | c.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 |
9 | g.104806270G>A | CA374315504 | ABCA1 | c.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 | |
9 | g.104806270G>C | CA374315502 | ABCA1 | c.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 | |
9 | g.104806270G>T | CA374315503 | ABCA1 | c.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 | |
9 | g.104806271G>A | CA466504304 | ABCA1 | c.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 | |
9 | g.104806271G>C | CA466504305 | ABCA1 | c.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 | |
9 | g.104806271G>T | CA466504306 | ABCA1 | c.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 | |
9 | g.104806272G>A | CA197370872 | ABCA1 | c.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 |
9 | g.104806272G>C | CA374315505 | ABCA1 | c.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 | |
9 | g.104806272G= | CA1869929651 | ABCA1 | c.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= | |
9 | g.104806272G>T | CA374315506 | ABCA1 | c.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 | |
9 | g.104806273G>A | CA374315507 | ABCA1 | c.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 |
9 | g.104806273G>C | CA374315508 | ABCA1 | c.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 | |
9 | g.104806273G= | CA1869929659 | ABCA1 | c.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= | |
9 | g.104806273G>T | CA374315509 | ABCA1 | c.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 |
9 | g.104806274A>C | CA374315510 | ABCA1 | c.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 | |
9 | g.104806274A>G | CA466504307 | ABCA1 | c.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 | |
9 | g.104806274A>T | CA374315511 | ABCA1 | c.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 | |
9 | g.104806275C>A | CA374315512 | ABCA1 | c.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 |
9 | g.104806275C>G | CA374315513 | ABCA1 | c.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 | |
9 | g.104806275C>T | CA374315514 | ABCA1 | c.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 | |
9 | g.104806276A= | CA1869929667 | ABCA1 | c.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= | |
9 | g.104806276A>C | CA374315516 | ABCA1 | c.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 |
9 | g.104806276A>G | CA120477 | ABCA1 | c.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 |
9 | g.104806276A>T | CA374315515 | ABCA1 | c.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 | |
9 | g.104806277C>A | CA466504309 | ABCA1 | c.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 | |
9 | g.104806277C>G | CA466504313 | ABCA1 | c.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 | |
9 | g.104806277C>T | CA466504311 | ABCA1 | c.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 | |
9 | g.104806278A>C | CA374315519 | ABCA1 | c.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 | |
9 | g.104806278A>G | CA374315517 | ABCA1 | c.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 | |
9 | g.104806278A>T | CA374315518 | ABCA1 | c.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 | |
9 | g.104806279C>A | CA374315520 | ABCA1 | c.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 | |
9 | g.104806279C= | CA1869929676 | ABCA1 | c.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= | |
9 | g.104806279C>G | CA374315521 | ABCA1 | c.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 |
9 | g.104806279C>T | CA374315522 | ABCA1 | c.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 |
9 | g.104806280A>C | CA466504315 | ABCA1 | c.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 | |
9 | g.104806280A>G | CA466504316 | ABCA1 | c.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 |
9 | g.104806280A>T | CA466504317 | ABCA1 | c.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 | |
9 | g.104806281G>A | CA374315525 | ABCA1 | c.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 |
9 | g.104806281G>C | CA374315524 | ABCA1 | c.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 | |
9 | g.104806281G>T | CA374315523 | ABCA1 | c.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 | |
9 | g.104806282dup | CA2841436241 | ABCA1 | c.4424dup (p.Val1476CysfsTer?) c.4430dup (p.Val1478CysfsTer?) c.4250dup (p.Val1418CysfsTer?) c.4505dup (p.Val1503CysfsTer?) c.4499dup (p.Val1501CysfsTer?) c.4067dup (p.Val1357CysfsTer?) c.4367dup (p.Val1457CysfsTer?) n.4818dup | |
9 | g.104806282G>A | CA5168153 | ABCA1 | c.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 |
9 | g.104806282G>C | CA374315526 | ABCA1 | c.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 |
9 | g.104806282G= | CA1869929684 | ABCA1 | c.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= | |
9 | g.104806282G>T | CA374315527 | ABCA1 | c.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 | |
9 | g.104806283C>A | CA466504320 | ABCA1 | c.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 |
9 | g.104806283C= | CA1869929703 | ABCA1 | c.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= | |
9 | g.104806283C>G | CA466504318 | ABCA1 | c.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 | |
9 | g.104806283C>T | CA466504319 | ABCA1 | c.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 | |
9 | g.104806284A>C | CA374315528 | ABCA1 | c.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 | |
9 | g.104806284A>G | CA374315529 | ABCA1 | c.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 |
9 | g.104806284A>T | CA374315530 | ABCA1 | c.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 |
9 | g.104806285G>A | CA5168154 | ABCA1 | c.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 |
9 | g.104806285G>C | CA374315532 | ABCA1 | c.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 | |
9 | g.104806285G= | CA1869929704 | ABCA1 | c.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= | |
9 | g.104806285G>T | CA374315531 | ABCA1 | c.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 | |
9 | g.104806286C>A | CA374315533 | ABCA1 | c.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 | |
9 | g.104806286C>G | CA374315534 | ABCA1 | c.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 | |
9 | g.104806286C>T | CA374315535 | ABCA1 | c.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 | |
9 | g.104806287A>C | CA374315536 | ABCA1 | c.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 | |
9 | g.104806287A>G | CA374315537 | ABCA1 | c.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 |
9 | g.104806287A>T | CA374315538 | ABCA1 | c.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 | |
9 | g.104806288T>A | CA374315539 | ABCA1 | c.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 | |
9 | g.104806288T>C | CA374315540 | ABCA1 | c.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 | |
9 | g.104806288T>G | CA374315541 | ABCA1 | c.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 |
9 | g.104806289C>A | CA197370897 | ABCA1 | c.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 |
9 | g.104806289C= | CA1869929708 | ABCA1 | c.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= | |
9 | g.104806289C>G | CA374315542 | ABCA1 | c.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 | |
9 | g.104806289C>T | CA466504324 | ABCA1 | c.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 | |
9 | g.104806290T>A | CA374315544 | ABCA1 | c.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 |
9 | g.104806290T>C | CA374315545 | ABCA1 | c.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 | |
9 | g.104806290T>G | CA374315543 | ABCA1 | c.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 | |
9 | g.104806291T>A | CA374315546 | ABCA1 | c.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 | |
9 | g.104806291T>C | CA374315548 | ABCA1 | c.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 | |
9 | g.104806291T>G | CA374315547 | ABCA1 | c.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 | |
9 | g.104806292C>A | CA374315549 | ABCA1 | c.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 |
9 | g.104806292C>G | CA374315550 | ABCA1 | c.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 | |
9 | g.104806292C>T | CA466504328 | ABCA1 | c.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 | |
9 | g.104806293T>A | CA374315551 | ABCA1 | c.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 | |
9 | g.104806293T>C | CA374315552 | ABCA1 | c.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 | |
9 | g.104806293T>G | CA374315553 | ABCA1 | c.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 | |
9 | g.104806294T>A | CA374315554 | ABCA1 | c.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 | |
9 | g.104806294T>C | CA374315555 | ABCA1 | c.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 | |
9 | g.104806294T>G | CA374315556 | ABCA1 | c.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 | |
9 | g.104806295G>A | CA466504332 | ABCA1 | c.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 |
9 | g.104806295G>C | CA374315557 | ABCA1 | c.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 |
9 | g.104806295G= | CA1869929711 | ABCA1 | c.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= | |
9 | g.104806295G>T | CA197370921 | ABCA1 | c.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 |