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.46373464C>A | CA352471686 | CCR5,CCR5AS | c.562C>A (p.Gln188Lys) n.392-2047G>T | |
3 | g.46373464C>G | CA352471684 | CCR5,CCR5AS | c.562C>G (p.Gln188Glu) n.392-2047G>C | |
3 | g.46373464C>T | CA352471682 | CCR5,CCR5AS | c.562C>T (p.Gln188Ter) n.392-2047G>A | gnomAD v4 |
3 | g.46373465A>C | CA352471688 | CCR5,CCR5AS | c.563A>C (p.Gln188Pro) n.392-2048T>G | |
3 | g.46373465A>G | CA352471690 | CCR5,CCR5AS | c.563A>G (p.Gln188Arg) n.392-2048T>C | |
3 | g.46373465A>T | CA352471691 | CCR5,CCR5AS | c.563A>T (p.Gln188Leu) n.392-2048T>A | |
3 | g.46373466A>C | CA352471693 | CCR5,CCR5AS | c.564A>C (p.Gln188His) n.392-2049T>G | |
3 | g.46373466A>G | CA433593808 | CCR5,CCR5AS | c.564A>G (p.Gln188=) n.392-2049T>C | gnomAD v4 |
3 | g.46373466A>T | CA352471695 | CCR5,CCR5AS | c.564A>T (p.Gln188His) n.392-2049T>A | |
3 | g.46373467T>A | CA2354681 | CCR5,CCR5AS | c.565T>A (p.Phe189Ile) n.392-2050A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.46373467T>C | CA2354680 | CCR5,CCR5AS | c.565T>C (p.Phe189Leu) n.392-2050A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.46373467T>G | CA352471697 | CCR5,CCR5AS | c.565T>G (p.Phe189Val) n.392-2050A>C | |
3 | g.46373467T= | CA1362082622 | CCR5,CCR5AS | c.565T= (p.Phe189=) n.392-2050A= | |
3 | g.46373468T>A | CA352471699 | CCR5,CCR5AS | c.566T>A (p.Phe189Tyr) n.392-2051A>T | |
3 | g.46373468T>C | CA352471701 | CCR5,CCR5AS | c.566T>C (p.Phe189Ser) n.392-2051A>G | gnomAD v4 |
3 | g.46373468T>G | CA352471703 | CCR5,CCR5AS | c.566T>G (p.Phe189Cys) n.392-2051A>C | |
3 | g.46373469C>A | CA352471705 | CCR5,CCR5AS | c.567C>A (p.Phe189Leu) n.392-2052G>T | |
3 | g.46373469C= | CA1362082623 | CCR5,CCR5AS | c.567C= (p.Phe189=) n.392-2052G= | |
3 | g.46373469C>G | CA352471706 | CCR5,CCR5AS | c.567C>G (p.Phe189Leu) n.392-2052G>C | dbSNP gnomAD v4 |
3 | g.46373469C>T | CA433593814 | CCR5,CCR5AS | c.567C>T (p.Phe189=) n.392-2052G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.46373470T>A | CA352471711 | CCR5,CCR5AS | c.568T>A (p.Trp190Arg) n.392-2053A>T | |
3 | g.46373470T>C | CA2354682 | CCR5,CCR5AS | c.568T>C (p.Trp190Arg) n.392-2053A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.46373470T>G | CA2354683 | CCR5,CCR5AS | c.568T>G (p.Trp190Gly) n.392-2053A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.46373470T= | CA1362082624 | CCR5,CCR5AS | c.568T= (p.Trp190=) n.392-2053A= | |
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= |