Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.87544812T>C | CA1723646353 | ABCB1 | c.2064+11A>G (n.2064+11A>G) c.1872+11A>G (n.1872+11A>G) c.2274+11A>G (n.2274+11A>G) | dbSNP |
7 | g.87544812T= | CA1723646351 | ABCB1 | c.2064+11A= (n.2064+11A=) c.1872+11A= (n.1872+11A=) c.2274+11A= (n.2274+11A=) | |
7 | g.87544813C= | CA1723646356 | ABCB1 | c.2064+10G= (n.2064+10G=) c.1872+10G= (n.1872+10G=) c.2274+10G= (n.2274+10G=) | |
7 | g.87544813C>G | CA1723646357 | ABCB1 | c.2064+10G>C (n.2064+10G>C) c.1872+10G>C (n.1872+10G>C) c.2274+10G>C (n.2274+10G>C) | dbSNP |
7 | g.87544813C>T | CA2578930121 | ABCB1 | c.2064+10G>A (n.2064+10G>A) c.1872+10G>A (n.1872+10G>A) c.2274+10G>A (n.2274+10G>A) | |
7 | g.87544814C= | CA1723646360 | ABCB1 | c.2064+9G= (n.2064+9G=) c.1872+9G= (n.1872+9G=) c.2274+9G= (n.2274+9G=) | |
7 | g.87544814C>G | CA576267736 | ABCB1 | c.2064+9G>C (n.2064+9G>C) c.1872+9G>C (n.1872+9G>C) c.2274+9G>C (n.2274+9G>C) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.87544814C>T | CA4328143 | ABCB1 | c.2064+9G>A (n.2064+9G>A) c.1872+9G>A (n.1872+9G>A) c.2274+9G>A (n.2274+9G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.87544815C= | CA1723646362 | ABCB1 | c.2064+8G= (n.2064+8G=) c.1872+8G= (n.1872+8G=) c.2274+8G= (n.2274+8G=) | |
7 | g.87544815C>T | CA1723646363 | ABCB1 | c.2064+8G>A (n.2064+8G>A) c.1872+8G>A (n.1872+8G>A) c.2274+8G>A (n.2274+8G>A) | dbSNP gnomAD v4 |
7 | g.87544816T>A | CA4328144 | ABCB1 | c.2064+7A>T (n.2064+7A>T) c.1872+7A>T (n.1872+7A>T) c.2274+7A>T (n.2274+7A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.87544816T>C | CA915945206 | ABCB1 | c.2064+7A>G (n.2064+7A>G) c.1872+7A>G (n.1872+7A>G) c.2274+7A>G (n.2274+7A>G) | ClinVar dbSNP gnomAD v4 |
7 | g.87544816T>G | CA2683607301 | ABCB1 | c.2064+7A>C (n.2064+7A>C) c.1872+7A>C (n.1872+7A>C) c.2274+7A>C (n.2274+7A>C) | gnomAD v4 |
7 | g.87544816T= | CA1723646367 | ABCB1 | c.2064+7A= (n.2064+7A=) c.1872+7A= (n.1872+7A=) c.2274+7A= (n.2274+7A=) | |
7 | g.87544820T>C | CA2715244890 | ABCB1 | c.2064+3A>G (n.2064+3A>G) c.1872+3A>G (n.1872+3A>G) c.2274+3A>G (n.2274+3A>G) | dbSNP |
7 | g.87544821A= | CA1723646372 | ABCB1 | c.2064+2T= (n.2064+2T=) c.1872+2T= (n.1872+2T=) c.2274+2T= (n.2274+2T=) | |
7 | g.87544821A>C | CA368058738 | ABCB1 | c.2064+2T>G (n.2064+2T>G) c.1872+2T>G (n.1872+2T>G) c.2274+2T>G (n.2274+2T>G) | |
7 | g.87544821A>G | CA368058739 | ABCB1 | c.2064+2T>C (n.2064+2T>C) c.1872+2T>C (n.1872+2T>C) c.2274+2T>C (n.2274+2T>C) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.87544821A>T | CA368058740 | ABCB1 | c.2064+2T>A (n.2064+2T>A) c.1872+2T>A (n.1872+2T>A) c.2274+2T>A (n.2274+2T>A) | |
7 | g.87544822C>A | CA368058741 | ABCB1 | c.2064+1G>T (n.2064+1G>T) c.1872+1G>T (n.1872+1G>T) c.2274+1G>T (n.2274+1G>T) | |
7 | g.87544822C>G | CA368058742 | ABCB1 | c.2064+1G>C (n.2064+1G>C) c.1872+1G>C (n.1872+1G>C) c.2274+1G>C (n.2274+1G>C) | |
7 | g.87544822C>T | CA368058743 | ABCB1 | c.2064+1G>A (n.2064+1G>A) c.1872+1G>A (n.1872+1G>A) c.2274+1G>A (n.2274+1G>A) | dbSNP |
7 | g.87544823C>A | CA456358222 | ABCB1 | c.2064G>T (p.Leu688=) c.1872G>T (p.Leu624=) c.2274G>T (p.Leu758=) | |
7 | g.87544823C= | CA1723646374 | ABCB1 | c.2064G= (p.Leu688=) c.1872G= (p.Leu624=) c.2274G= (p.Leu758=) | |
7 | g.87544823C>G | CA456358223 | ABCB1 | c.2064G>C (p.Leu688=) c.1872G>C (p.Leu624=) c.2274G>C (p.Leu758=) | |
7 | g.87544823C>T | CA456358224 | ABCB1 | c.2064G>A (p.Leu688=) c.1872G>A (p.Leu624=) c.2274G>A (p.Leu758=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.87544824A>C | CA368058744 | ABCB1 | c.2063T>G (p.Leu688Arg) c.1871T>G (p.Leu624Arg) c.2273T>G (p.Leu758Arg) | |
7 | g.87544824A>G | CA368058745 | ABCB1 | c.2063T>C (p.Leu688Pro) c.1871T>C (p.Leu624Pro) c.2273T>C (p.Leu758Pro) | |
7 | g.87544824A>T | CA368058746 | ABCB1 | c.2063T>A (p.Leu688Gln) c.1871T>A (p.Leu624Gln) c.2273T>A (p.Leu758Gln) | |
7 | g.87544825G>A | CA456358225 | ABCB1 | c.2062C>T (p.Leu688=) c.1870C>T (p.Leu624=) c.2272C>T (p.Leu758=) | dbSNP gnomAD v4 |
7 | g.87544825G>C | CA368058747 | ABCB1 | c.2062C>G (p.Leu688Val) c.1870C>G (p.Leu624Val) c.2272C>G (p.Leu758Val) | |
7 | g.87544825G= | CA1723646376 | ABCB1 | c.2062C= (p.Leu688=) c.1870C= (p.Leu624=) c.2272C= (p.Leu758=) | |
7 | g.87544825G>T | CA368058748 | ABCB1 | c.2062C>A (p.Leu688Met) c.1870C>A (p.Leu624Met) c.2272C>A (p.Leu758Met) | |
7 | g.87544826A>C | CA456358227 | ABCB1 | c.2061T>G (p.Ala687=) c.1869T>G (p.Ala623=) c.2271T>G (p.Ala757=) | |
7 | g.87544826A>G | CA456358228 | ABCB1 | c.2061T>C (p.Ala687=) c.1869T>C (p.Ala623=) c.2271T>C (p.Ala757=) | |
7 | g.87544826A>T | CA456358229 | ABCB1 | c.2061T>A (p.Ala687=) c.1869T>A (p.Ala623=) c.2271T>A (p.Ala757=) | |
7 | g.87544827G>A | CA368058751 | ABCB1 | c.2060C>T (p.Ala687Val) c.1868C>T (p.Ala623Val) c.2270C>T (p.Ala757Val) | dbSNP |
7 | g.87544827G>C | CA368058750 | ABCB1 | c.2060C>G (p.Ala687Gly) c.1868C>G (p.Ala623Gly) c.2270C>G (p.Ala757Gly) | |
7 | g.87544827G= | CA1723646379 | ABCB1 | c.2060C= (p.Ala687=) c.1868C= (p.Ala623=) c.2270C= (p.Ala757=) | |
7 | g.87544827G>T | CA368058749 | ABCB1 | c.2060C>A (p.Ala687Asp) c.1868C>A (p.Ala623Asp) c.2270C>A (p.Ala757Asp) | |
7 | g.87544828C>A | CA368058752 | ABCB1 | c.2059G>T (p.Ala687Ser) c.1867G>T (p.Ala623Ser) c.2269G>T (p.Ala757Ser) | gnomAD v4 |
7 | g.87544828C= | CA1723646383 | ABCB1 | c.2059G= (p.Ala687=) c.1867G= (p.Ala623=) c.2269G= (p.Ala757=) | |
7 | g.87544828C>G | CA162118393 | ABCB1 | c.2059G>C (p.Ala687Pro) c.1867G>C (p.Ala623Pro) c.2269G>C (p.Ala757Pro) | dbSNP |
7 | g.87544828C>T | CA368058753 | ABCB1 | c.2059G>A (p.Ala687Thr) c.1867G>A (p.Ala623Thr) c.2269G>A (p.Ala757Thr) | |
7 | g.87544829C>A | CA368058754 | ABCB1 | c.2058G>T (p.Glu686Asp) c.1866G>T (p.Glu622Asp) c.2268G>T (p.Glu756Asp) | COSMIC |
7 | g.87544829C= | CA1723646388 | ABCB1 | c.2058G= (p.Glu686=) c.1866G= (p.Glu622=) c.2268G= (p.Glu756=) | |
7 | g.87544829C>G | CA368058755 | ABCB1 | c.2058G>C (p.Glu686Asp) c.1866G>C (p.Glu622Asp) c.2268G>C (p.Glu756Asp) | |
7 | g.87544829C>T | CA456358230 | ABCB1 | c.2058G>A (p.Glu686=) c.1866G>A (p.Glu622=) c.2268G>A (p.Glu756=) | ClinVar dbSNP gnomAD v4 |
7 | g.87544830T>A | CA368058756 | ABCB1 | c.2057A>T (p.Glu686Val) c.1865A>T (p.Glu622Val) c.2267A>T (p.Glu756Val) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.87544830T>C | CA368058757 | ABCB1 | c.2057A>G (p.Glu686Gly) c.1865A>G (p.Glu622Gly) c.2267A>G (p.Glu756Gly) | gnomAD v4 |