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.46373471G>A | CA352471716 | CCR5,CCR5AS | c.569G>A (p.Trp190Ter) n.392-2054C>T | dbSNP gnomAD v3 gnomAD v4 |
3 | g.46373471G>C | CA352471719 | CCR5,CCR5AS | c.569G>C (p.Trp190Ser) n.392-2054C>G | |
3 | g.46373471G= | CA1362082625 | CCR5,CCR5AS | c.569G= (p.Trp190=) n.392-2054C= | |
3 | g.46373471G>T | CA352471721 | CCR5,CCR5AS | c.569G>T (p.Trp190Leu) n.392-2054C>A | |
3 | g.46373472del | CA2665436445 | CCR5,CCR5AS | c.570del (p.Trp190Ter) n.392-2054del | gnomAD v4 |
3 | g.46373472G>A | CA352471726 | CCR5,CCR5AS | c.570G>A (p.Trp190Ter) n.392-2055C>T | |
3 | g.46373472G>C | CA352471729 | CCR5,CCR5AS | c.570G>C (p.Trp190Cys) n.392-2055C>G | gnomAD v4 |
3 | g.46373472G= | CA1362082626 | CCR5,CCR5AS | c.570G= (p.Trp190=) n.392-2055C= | |
3 | g.46373472G>T | CA2354684 | CCR5,CCR5AS | c.570G>T (p.Trp190Cys) n.392-2055C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.46373473A>C | CA352471738 | CCR5,CCR5AS | c.571A>C (p.Lys191Gln) n.392-2056T>G | |
3 | g.46373473A>G | CA352471734 | CCR5,CCR5AS | c.571A>G (p.Lys191Glu) n.392-2056T>C | |
3 | g.46373473A>T | CA352471737 | CCR5,CCR5AS | c.571A>T (p.Lys191Ter) n.392-2056T>A | |
3 | g.46373474A>C | CA352471743 | CCR5,CCR5AS | c.572A>C (p.Lys191Thr) n.392-2057T>G | |
3 | g.46373474A>G | CA352471746 | CCR5,CCR5AS | c.572A>G (p.Lys191Arg) n.392-2057T>C | |
3 | g.46373474A>T | CA352471748 | CCR5,CCR5AS | c.572A>T (p.Lys191Met) n.392-2057T>A | |
3 | g.46373475G>A | CA433593827 | CCR5,CCR5AS | c.573G>A (p.Lys191=) n.392-2058C>T | gnomAD v4 |
3 | g.46373475G>C | CA352471752 | CCR5,CCR5AS | c.573G>C (p.Lys191Asn) n.392-2058C>G | COSMIC |
3 | g.46373475G>T | CA352471755 | CCR5,CCR5AS | c.573G>T (p.Lys191Asn) n.392-2058C>A | |
3 | g.46373476A>C | CA352471763 | CCR5,CCR5AS | c.574A>C (p.Asn192His) n.392-2059T>G | |
3 | g.46373476A>G | CA352471758 | CCR5,CCR5AS | c.574A>G (p.Asn192Asp) n.392-2059T>C | |
3 | g.46373476A>T | CA352471761 | CCR5,CCR5AS | c.574A>T (p.Asn192Tyr) n.392-2059T>A | |
3 | g.46373477A= | CA1362082627 | CCR5,CCR5AS | c.575A= (p.Asn192=) n.392-2060T= | |
3 | g.46373477A>C | CA352471768 | CCR5,CCR5AS | c.575A>C (p.Asn192Thr) n.392-2060T>G | |
3 | g.46373477A>G | CA352471770 | CCR5,CCR5AS | c.575A>G (p.Asn192Ser) n.392-2060T>C | |
3 | g.46373477A>T | CA73685316 | CCR5,CCR5AS | c.575A>T (p.Asn192Ile) n.392-2060T>A | dbSNP |
3 | g.46373478T>A | CA352471776 | CCR5,CCR5AS | c.576T>A (p.Asn192Lys) n.392-2061A>T | |
3 | g.46373478T>C | CA433593833 | CCR5,CCR5AS | c.576T>C (p.Asn192=) n.392-2061A>G | |
3 | g.46373478T>G | CA352471777 | CCR5,CCR5AS | c.576T>G (p.Asn192Lys) n.392-2061A>C | |
3 | g.46373479T>A | CA352471780 | CCR5,CCR5AS | c.577T>A (p.Phe193Ile) n.392-2062A>T | |
3 | g.46373479T>C | CA352471782 | CCR5,CCR5AS | c.577T>C (p.Phe193Leu) n.392-2062A>G | gnomAD v4 |
3 | g.46373479T>G | CA352471783 | CCR5,CCR5AS | c.577T>G (p.Phe193Val) n.392-2062A>C | |
3 | g.46373480T>A | CA352471786 | CCR5,CCR5AS | c.578T>A (p.Phe193Tyr) n.392-2063A>T | |
3 | g.46373480T>C | CA73685319 | CCR5,CCR5AS | c.578T>C (p.Phe193Ser) n.392-2063A>G | dbSNP gnomAD v4 |
3 | g.46373480T>G | CA352471790 | CCR5,CCR5AS | c.578T>G (p.Phe193Cys) n.392-2063A>C | |
3 | g.46373480T= | CA1362082628 | CCR5,CCR5AS | c.578T= (p.Phe193=) n.392-2063A= | |
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 |