Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.46373452_46373484delinsTACAGTCAGTATCAATTCTGGAAGAATTTCCAG | CA1362082611 | CCR5,CCR5AS | c.550_582delinsTACAGTCAGTATCAATTCTGGAAGAATTTCCAG (p.Tyr184=) n.392-2067_392-2035delinsCTGGAAATTCTTCCAGAATTGATACTGACTGTA | |
3 | g.46373452_46373513del | CA2665436444 | CCR5,CCR5AS | c.550_611del (p.Tyr184ProfsTer23) n.392-2096_392-2035del | gnomAD v4 |
3 | g.46373456_46373487del | CA119355 | CCR5,CCR5AS | c.554_585del (p.Ser185IlefsTer?) n.392-2067_392-2036del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
3 | g.46373463_46373490del | CA2577573859 | CCR5,CCR5AS | c.561_588del (p.Tyr187Ter) n.392-2071_392-2044del | |
3 | g.46373481C>A | CA352471794 | CCR5,CCR5AS | c.579C>A (p.Phe193Leu) n.392-2064G>T | |
3 | g.46373481C= | CA1362082629 | CCR5,CCR5AS | c.579C= (p.Phe193=) n.392-2064G= | |
3 | g.46373481C>G | CA2354685 | CCR5,CCR5AS | c.579C>G (p.Phe193Leu) n.392-2064G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.46373481C>T | CA433593842 | CCR5,CCR5AS | c.579C>T (p.Phe193=) n.392-2064G>A | COSMIC |
3 | g.46373482C>A | CA352471801 | CCR5,CCR5AS | c.580C>A (p.Gln194Lys) n.392-2065G>T | |
3 | g.46373482C>G | CA352471806 | CCR5,CCR5AS | c.580C>G (p.Gln194Glu) n.392-2065G>C | |
3 | g.46373482C>T | CA352471803 | CCR5,CCR5AS | c.580C>T (p.Gln194Ter) n.392-2065G>A | |
3 | g.46373483A= | CA1362082630 | CCR5,CCR5AS | c.581A= (p.Gln194=) n.392-2066T= | |
3 | g.46373483A>C | CA352471810 | CCR5,CCR5AS | c.581A>C (p.Gln194Pro) n.392-2066T>G | |
3 | g.46373483A>G | CA352471814 | CCR5,CCR5AS | c.581A>G (p.Gln194Arg) n.392-2066T>C | dbSNP |
3 | g.46373483A>T | CA352471819 | CCR5,CCR5AS | c.581A>T (p.Gln194Leu) n.392-2066T>A | dbSNP |
3 | g.46373484G>A | CA433593853 | CCR5,CCR5AS | c.582G>A (p.Gln194=) n.392-2067C>T | |
3 | g.46373484G>C | CA352471822 | CCR5,CCR5AS | c.582G>C (p.Gln194His) n.392-2067C>G | |
3 | g.46373484G= | CA1362082631 | CCR5,CCR5AS | c.582G= (p.Gln194=) n.392-2067C= | |
3 | g.46373484G>T | CA73685332 | CCR5,CCR5AS | c.582G>T (p.Gln194His) n.392-2067C>A | dbSNP gnomAD v4 |
3 | g.46373485A>C | CA352471828 | CCR5,CCR5AS | c.583A>C (p.Thr195Pro) n.392-2068T>G | |
3 | g.46373485A>G | CA352471832 | CCR5,CCR5AS | c.583A>G (p.Thr195Ala) n.392-2068T>C | |
3 | g.46373485A>T | CA352471834 | CCR5,CCR5AS | c.583A>T (p.Thr195Ser) n.392-2068T>A | |
3 | g.46373486C>A | CA352471839 | CCR5,CCR5AS | c.584C>A (p.Thr195Lys) n.392-2069G>T | |
3 | g.46373486C= | CA1362082632 | CCR5,CCR5AS | c.584C= (p.Thr195=) n.392-2069G= | |
3 | g.46373486C>G | CA352471842 | CCR5,CCR5AS | c.584C>G (p.Thr195Arg) n.392-2069G>C | |
3 | g.46373486C>T | CA2354686 | CCR5,CCR5AS | c.584C>T (p.Thr195Ile) n.392-2069G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.46373487A= | CA1362082633 | CCR5,CCR5AS | c.585A= (p.Thr195=) n.392-2070T= | |
3 | g.46373487A>C | CA433593872 | CCR5,CCR5AS | c.585A>C (p.Thr195=) n.392-2070T>G | dbSNP |
3 | g.46373487A>G | CA433593874 | CCR5,CCR5AS | c.585A>G (p.Thr195=) n.392-2070T>C | |
3 | g.46373487A>T | CA433593877 | CCR5,CCR5AS | c.585A>T (p.Thr195=) n.392-2070T>A | |
3 | g.46373488T>A | CA352471850 | CCR5,CCR5AS | c.586T>A (p.Leu196Ile) n.392-2071A>T | |
3 | g.46373488T>C | CA433593879 | CCR5,CCR5AS | c.586T>C (p.Leu196=) n.392-2071A>G | |
3 | g.46373488T>G | CA352471854 | CCR5,CCR5AS | c.586T>G (p.Leu196Val) n.392-2071A>C | |
3 | g.46373489T>A | CA352471864 | CCR5,CCR5AS | c.587T>A (p.Leu196Ter) n.392-2072A>T | |
3 | g.46373489T>C | CA352471859 | CCR5,CCR5AS | c.587T>C (p.Leu196Ser) n.392-2072A>G | |
3 | g.46373489T>G | CA352471862 | CCR5,CCR5AS | c.587T>G (p.Leu196Ter) n.392-2072A>C | |
3 | g.46373490A>C | CA352471865 | CCR5,CCR5AS | c.588A>C (p.Leu196Phe) n.392-2073T>G | |
3 | g.46373490A>G | CA433593887 | CCR5,CCR5AS | c.588A>G (p.Leu196=) n.392-2073T>C | |
3 | g.46373490A>T | CA352471866 | CCR5,CCR5AS | c.588A>T (p.Leu196Phe) n.392-2073T>A | |
3 | g.46373491A>C | CA352471867 | CCR5,CCR5AS | c.589A>C (p.Lys197Gln) n.392-2074T>G | |
3 | g.46373491A>G | CA352471868 | CCR5,CCR5AS | c.589A>G (p.Lys197Glu) n.392-2074T>C | |
3 | g.46373491A>T | CA352471869 | CCR5,CCR5AS | c.589A>T (p.Lys197Ter) n.392-2074T>A | |
3 | g.46373492A>C | CA352471870 | CCR5,CCR5AS | c.590A>C (p.Lys197Thr) n.392-2075T>G | |
3 | g.46373492A>G | CA352471871 | CCR5,CCR5AS | c.590A>G (p.Lys197Arg) n.392-2075T>C | |
3 | g.46373492A>T | CA352471872 | CCR5,CCR5AS | c.590A>T (p.Lys197Met) n.392-2075T>A | |
3 | g.46373493G>A | CA2354687 | CCR5,CCR5AS | c.591G>A (p.Lys197=) n.392-2076C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.46373493G>C | CA352471876 | CCR5,CCR5AS | c.591G>C (p.Lys197Asn) n.392-2076C>G | |
3 | g.46373493G= | CA1362082634 | CCR5,CCR5AS | c.591G= (p.Lys197=) n.392-2076C= | |
3 | g.46373493G>T | CA352471879 | CCR5,CCR5AS | c.591G>T (p.Lys197Asn) n.392-2076C>A | dbSNP gnomAD v3 gnomAD v4 |
3 | g.46373494A>C | CA352471891 | CCR5,CCR5AS | c.592A>C (p.Ile198Leu) n.392-2077T>G |