Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.46373146_46373170delinsACTGTCCCCTTCTGGGCTCACTATG | CA1362082454 | CCR5,CCR5AS | c.244_268delinsACTGTCCCCTTCTGGGCTCACTATG (p.Thr82=) n.392-1753_392-1729delinsCATAGTGAGCCCAGAAGGGGACAGT | |
3 | g.46373147_46373168delinsCTGTCCCCTTCTGGGCTCACTA | CA1362082456 | CCR5,CCR5AS | c.245_266delinsCTGTCCCCTTCTGGGCTCACTA (p.Thr82=) n.392-1751_392-1730delinsTAGTGAGCCCAGAAGGGGACAG | |
3 | g.46373150_46373173del | CA1047500337 | CCR5,CCR5AS | c.248_271del (p.Val83_Ala90del) n.392-1753_392-1730del | dbSNP gnomAD v3 gnomAD v4 |
3 | g.46373150_46373170del | CA543041124 | CCR5,CCR5AS | c.248_268del (p.Val83_Tyr89del) n.392-1751_392-1731del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.46373167T>A | CA352469585 | CCR5,CCR5AS | c.265T>A (p.Tyr89Asn) n.392-1750A>T | |
3 | g.46373167T>C | CA352469583 | CCR5,CCR5AS | c.265T>C (p.Tyr89His) n.392-1750A>G | dbSNP gnomAD v4 |
3 | g.46373167T>G | CA352469581 | CCR5,CCR5AS | c.265T>G (p.Tyr89Asp) n.392-1750A>C | |
3 | g.46373167T= | CA1362082465 | CCR5,CCR5AS | c.265T= (p.Tyr89=) n.392-1750A= | |
3 | g.46373168A= | CA1362082466 | CCR5,CCR5AS | c.266A= (p.Tyr89=) n.392-1751T= | |
3 | g.46373168A>C | CA352469587 | CCR5,CCR5AS | c.266A>C (p.Tyr89Ser) n.392-1751T>G | |
3 | g.46373168A>G | CA352469589 | CCR5,CCR5AS | c.266A>G (p.Tyr89Cys) n.392-1751T>C | dbSNP gnomAD v4 |
3 | g.46373168A>T | CA352469590 | CCR5,CCR5AS | c.266A>T (p.Tyr89Phe) n.392-1751T>A | |
3 | g.46373169T>A | CA352469593 | CCR5,CCR5AS | c.267T>A (p.Tyr89Ter) n.392-1752A>T | |
3 | g.46373169T>C | CA2354599 | CCR5,CCR5AS | c.267T>C (p.Tyr89=) n.392-1752A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.46373169T>G | CA352469595 | CCR5,CCR5AS | c.267T>G (p.Tyr89Ter) n.392-1752A>C | |
3 | g.46373169T= | CA1362082467 | CCR5,CCR5AS | c.267T= (p.Tyr89=) n.392-1752A= | |
3 | g.46373170G>A | CA352469596 | CCR5,CCR5AS | c.268G>A (p.Ala90Thr) n.392-1753C>T | dbSNP gnomAD v3 gnomAD v4 |
3 | g.46373170G>C | CA352469598 | CCR5,CCR5AS | c.268G>C (p.Ala90Pro) n.392-1753C>G | |
3 | g.46373170G= | CA1362082468 | CCR5,CCR5AS | c.268G= (p.Ala90=) n.392-1753C= | |
3 | g.46373170G>T | CA352469600 | CCR5,CCR5AS | c.268G>T (p.Ala90Ser) n.392-1753C>A | dbSNP gnomAD v2 gnomAD v4 |
3 | g.46373171C>A | CA352469603 | CCR5,CCR5AS | c.269C>A (p.Ala90Asp) n.392-1754G>T | |
3 | g.46373171C>G | CA352469604 | CCR5,CCR5AS | c.269C>G (p.Ala90Gly) n.392-1754G>C | |
3 | g.46373171C>T | CA352469606 | CCR5,CCR5AS | c.269C>T (p.Ala90Val) n.392-1754G>A | |
3 | g.46373172T>A | CA433593675 | CCR5,CCR5AS | c.270T>A (p.Ala90=) n.392-1755A>T | |
3 | g.46373172T>C | CA433593676 | CCR5,CCR5AS | c.270T>C (p.Ala90=) n.392-1755A>G | |
3 | g.46373172T>G | CA433593677 | CCR5,CCR5AS | c.270T>G (p.Ala90=) n.392-1755A>C | |
3 | g.46373173G>A | CA352469612 | CCR5,CCR5AS | c.271G>A (p.Ala91Thr) n.392-1756C>T | |
3 | g.46373173G>C | CA352469610 | CCR5,CCR5AS | c.271G>C (p.Ala91Pro) n.392-1756C>G | |
3 | g.46373173G>T | CA352469609 | CCR5,CCR5AS | c.271G>T (p.Ala91Ser) n.392-1756C>A | |
3 | g.46373174C>A | CA352469615 | CCR5,CCR5AS | c.272C>A (p.Ala91Asp) n.392-1757G>T | |
3 | g.46373174C= | CA1362082469 | CCR5,CCR5AS | c.272C= (p.Ala91=) n.392-1757G= | |
3 | g.46373174C>G | CA352469616 | CCR5,CCR5AS | c.272C>G (p.Ala91Gly) n.392-1757G>C | |
3 | g.46373174C>T | CA73684581 | CCR5,CCR5AS | c.272C>T (p.Ala91Val) n.392-1757G>A | ClinVar dbSNP gnomAD v4 |
3 | g.46373175C>A | CA433593681 | CCR5,CCR5AS | c.273C>A (p.Ala91=) n.392-1758G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.46373175C= | CA1362082470 | CCR5,CCR5AS | c.273C= (p.Ala91=) n.392-1758G= | |
3 | g.46373175C>G | CA433593682 | CCR5,CCR5AS | c.273C>G (p.Ala91=) n.392-1758G>C | gnomAD v4 |
3 | g.46373175C>T | CA2354600 | CCR5,CCR5AS | c.273C>T (p.Ala91=) n.392-1758G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.46373176G>A | CA2354601 | CCR5,CCR5AS | c.274G>A (p.Ala92Thr) n.392-1759C>T | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC |
3 | g.46373176G>C | CA352469622 | CCR5,CCR5AS | c.274G>C (p.Ala92Pro) n.392-1759C>G | |
3 | g.46373176G= | CA1362082471 | CCR5,CCR5AS | c.274G= (p.Ala92=) n.392-1759C= | |
3 | g.46373176G>T | CA352469623 | CCR5,CCR5AS | c.274G>T (p.Ala92Ser) n.392-1759C>A | |
3 | g.46373177C>A | CA352469626 | CCR5,CCR5AS | c.275C>A (p.Ala92Asp) n.392-1760G>T | gnomAD v4 COSMIC |
3 | g.46373177C>G | CA352469628 | CCR5,CCR5AS | c.275C>G (p.Ala92Gly) n.392-1760G>C | gnomAD v4 |
3 | g.46373177C>T | CA352469630 | CCR5,CCR5AS | c.275C>T (p.Ala92Val) n.392-1760G>A | gnomAD v4 |
3 | g.46373178C>A | CA433593685 | CCR5,CCR5AS | c.276C>A (p.Ala92=) n.392-1761G>T | gnomAD v4 |
3 | g.46373178C>G | CA433593686 | CCR5,CCR5AS | c.276C>G (p.Ala92=) n.392-1761G>C | |
3 | g.46373178C>T | CA433593687 | CCR5,CCR5AS | c.276C>T (p.Ala92=) n.392-1761G>A | gnomAD v4 COSMIC |
3 | g.46373179C>A | CA352469632 | CCR5,CCR5AS | c.277C>A (p.Gln93Lys) n.392-1762G>T | |
3 | g.46373179C= | CA1362082472 | CCR5,CCR5AS | c.277C= (p.Gln93=) n.392-1762G= | |
3 | g.46373179C>G | CA2354602 | CCR5,CCR5AS | c.277C>G (p.Gln93Glu) n.392-1762G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |