Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.87566217_87566218delinsA | CA162470423 | ABCB1 | c.554_555delinsT (p.Gly185ValfsTer21) c.362_363delinsT (p.Gly121ValfsTer21) c.764_765delinsT (p.Gly255ValfsTer21) | |
7 | g.87566218C>A | CA123373 | ABCB1 | c.554G>T (p.Gly185Val) c.362G>T (p.Gly121Val) c.764G>T (p.Gly255Val) | ClinVar dbSNP COSMIC |
7 | g.87566218C= | CA1723648216 | ABCB1 | c.554G= (p.Gly185=) c.362G= (p.Gly121=) c.764G= (p.Gly255=) | |
7 | g.87566218C>G | CA368090600 | ABCB1 | c.554G>C (p.Gly185Ala) c.362G>C (p.Gly121Ala) c.764G>C (p.Gly255Ala) | |
7 | g.87566218C>T | CA368090601 | ABCB1 | c.554G>A (p.Gly185Glu) c.362G>A (p.Gly121Glu) c.764G>A (p.Gly255Glu) | COSMIC |
7 | g.87566219C>A | CA368090602 | ABCB1 | c.553G>T (p.Gly185Ter) c.361G>T (p.Gly121Ter) c.763G>T (p.Gly255Ter) | |
7 | g.87566219C>G | CA368090603 | ABCB1 | c.553G>C (p.Gly185Arg) c.361G>C (p.Gly121Arg) c.763G>C (p.Gly255Arg) | |
7 | g.87566219C>T | CA368090604 | ABCB1 | c.553G>A (p.Gly185Arg) c.361G>A (p.Gly121Arg) c.763G>A (p.Gly255Arg) | gnomAD v4 |
7 | g.87566220T>A | CA368090605 | ABCB1 | c.552A>T (p.Glu184Asp) c.360A>T (p.Glu120Asp) c.762A>T (p.Glu254Asp) | |
7 | g.87566220T>C | CA456372213 | ABCB1 | c.552A>G (p.Glu184=) c.360A>G (p.Glu120=) c.762A>G (p.Glu254=) | |
7 | g.87566220T>G | CA368090606 | ABCB1 | c.552A>C (p.Glu184Asp) c.360A>C (p.Glu120Asp) c.762A>C (p.Glu254Asp) | |
7 | g.87566221T>A | CA368090607 | ABCB1 | c.551A>T (p.Glu184Val) c.359A>T (p.Glu120Val) c.761A>T (p.Glu254Val) | |
7 | g.87566221T>C | CA368090608 | ABCB1 | c.551A>G (p.Glu184Gly) c.359A>G (p.Glu120Gly) c.761A>G (p.Glu254Gly) | |
7 | g.87566221T>G | CA368090609 | ABCB1 | c.551A>C (p.Glu184Ala) c.359A>C (p.Glu120Ala) c.761A>C (p.Glu254Ala) | |
7 | g.87566222C>A | CA368090610 | ABCB1 | c.550G>T (p.Glu184Ter) c.358G>T (p.Glu120Ter) c.760G>T (p.Glu254Ter) | gnomAD v4 |
7 | g.87566222C>G | CA368090611 | ABCB1 | c.550G>C (p.Glu184Gln) c.358G>C (p.Glu120Gln) c.760G>C (p.Glu254Gln) | |
7 | g.87566222C>T | CA368090612 | ABCB1 | c.550G>A (p.Glu184Lys) c.358G>A (p.Glu120Lys) c.760G>A (p.Glu254Lys) | |
7 | g.87566223A= | CA1723648218 | ABCB1 | c.549T= (p.Asn183=) c.357T= (p.Asn119=) c.759T= (p.Asn253=) | |
7 | g.87566223A>C | CA368090614 | ABCB1 | c.549T>G (p.Asn183Lys) c.357T>G (p.Asn119Lys) c.759T>G (p.Asn253Lys) | |
7 | g.87566223A>G | CA4328555 | ABCB1 | c.549T>C (p.Asn183=) c.357T>C (p.Asn119=) c.759T>C (p.Asn253=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.87566223A>T | CA368090613 | ABCB1 | c.549T>A (p.Asn183Lys) c.357T>A (p.Asn119Lys) c.759T>A (p.Asn253Lys) | |
7 | g.87566224T>A | CA368090615 | ABCB1 | c.548A>T (p.Asn183Ile) c.356A>T (p.Asn119Ile) c.758A>T (p.Asn253Ile) | |
7 | g.87566224T>C | CA4328556 | ABCB1 | c.548A>G (p.Asn183Ser) c.356A>G (p.Asn119Ser) c.758A>G (p.Asn253Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.87566224T>G | CA368090616 | ABCB1 | c.548A>C (p.Asn183Thr) c.356A>C (p.Asn119Thr) c.758A>C (p.Asn253Thr) | |
7 | g.87566224T= | CA1723648224 | ABCB1 | c.548A= (p.Asn183=) c.356A= (p.Asn119=) c.758A= (p.Asn253=) | |
7 | g.87566225T>A | CA368090617 | ABCB1 | c.547A>T (p.Asn183Tyr) c.355A>T (p.Asn119Tyr) c.757A>T (p.Asn253Tyr) | |
7 | g.87566225T>C | CA368090618 | ABCB1 | c.547A>G (p.Asn183Asp) c.355A>G (p.Asn119Asp) c.757A>G (p.Asn253Asp) | |
7 | g.87566225T>G | CA368090619 | ABCB1 | c.547A>C (p.Asn183His) c.355A>C (p.Asn119His) c.757A>C (p.Asn253His) | |
7 | g.87566226A>C | CA368090620 | ABCB1 | c.546T>G (p.Ile182Met) c.354T>G (p.Ile118Met) c.756T>G (p.Ile252Met) | |
7 | g.87566226A>G | CA456372214 | ABCB1 | c.546T>C (p.Ile182=) c.354T>C (p.Ile118=) c.756T>C (p.Ile252=) | |
7 | g.87566226A>T | CA456372215 | ABCB1 | c.546T>A (p.Ile182=) c.354T>A (p.Ile118=) c.756T>A (p.Ile252=) | gnomAD v4 |
7 | g.87566227A= | CA1723648228 | ABCB1 | c.545T= (p.Ile182=) c.353T= (p.Ile118=) c.755T= (p.Ile252=) | |
7 | g.87566227A>C | CA368090621 | ABCB1 | c.545T>G (p.Ile182Ser) c.353T>G (p.Ile118Ser) c.755T>G (p.Ile252Ser) | gnomAD v4 |
7 | g.87566227A>G | CA368090622 | ABCB1 | c.545T>C (p.Ile182Thr) c.353T>C (p.Ile118Thr) c.755T>C (p.Ile252Thr) | dbSNP |
7 | g.87566227A>T | CA368090623 | ABCB1 | c.545T>A (p.Ile182Asn) c.353T>A (p.Ile118Asn) c.755T>A (p.Ile252Asn) | |
7 | g.87566228T>A | CA368090624 | ABCB1 | c.544A>T (p.Ile182Phe) c.352A>T (p.Ile118Phe) c.754A>T (p.Ile252Phe) | |
7 | g.87566228T>C | CA368090625 | ABCB1 | c.544A>G (p.Ile182Val) c.352A>G (p.Ile118Val) c.754A>G (p.Ile252Val) | |
7 | g.87566228T>G | CA368090626 | ABCB1 | c.544A>C (p.Ile182Leu) c.352A>C (p.Ile118Leu) c.754A>C (p.Ile252Leu) | |
7 | g.87566229C>A | CA368090628 | ABCB1 | c.543G>T (p.Lys181Asn) c.351G>T (p.Lys117Asn) c.753G>T (p.Lys251Asn) | |
7 | g.87566229C>G | CA368090627 | ABCB1 | c.543G>C (p.Lys181Asn) c.351G>C (p.Lys117Asn) c.753G>C (p.Lys251Asn) | dbSNP gnomAD v4 |
7 | g.87566229C>T | CA456372218 | ABCB1 | c.543G>A (p.Lys181=) c.351G>A (p.Lys117=) c.753G>A (p.Lys251=) | gnomAD v4 |
7 | g.87566230T>A | CA4328557 | ABCB1 | c.542A>T (p.Lys181Met) c.350A>T (p.Lys117Met) c.752A>T (p.Lys251Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.87566230T>C | CA368090629 | ABCB1 | c.542A>G (p.Lys181Arg) c.350A>G (p.Lys117Arg) c.752A>G (p.Lys251Arg) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.87566230T>G | CA368090630 | ABCB1 | c.542A>C (p.Lys181Thr) c.350A>C (p.Lys117Thr) c.752A>C (p.Lys251Thr) | |
7 | g.87566230T= | CA1723648231 | ABCB1 | c.542A= (p.Lys181=) c.350A= (p.Lys117=) c.752A= (p.Lys251=) | |
7 | g.87566231T>A | CA368090631 | ABCB1 | c.541A>T (p.Lys181Ter) c.349A>T (p.Lys117Ter) c.751A>T (p.Lys251Ter) | |
7 | g.87566231T>C | CA368090632 | ABCB1 | c.541A>G (p.Lys181Glu) c.349A>G (p.Lys117Glu) c.751A>G (p.Lys251Glu) | |
7 | g.87566231T>G | CA368090633 | ABCB1 | c.541A>C (p.Lys181Gln) c.349A>C (p.Lys117Gln) c.751A>C (p.Lys251Gln) | |
7 | g.87566232G>A | CA4328558 | ABCB1 | c.540C>T (p.Ser180=) c.348C>T (p.Ser116=) c.750C>T (p.Ser250=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.87566232G>C | CA456372219 | ABCB1 | c.540C>G (p.Ser180=) c.348C>G (p.Ser116=) c.750C>G (p.Ser250=) |