Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.119669838C>G | CA2611159842 | BAG3 | c.181-13C>G (n.181-13C>G) c.7-13C>G (n.7-13C>G) | gnomAD v4 |
10 | g.119669838C>T | CA2611159843 | BAG3 | c.181-13C>T (n.181-13C>T) c.7-13C>T (n.7-13C>T) | gnomAD v4 |
10 | g.119669838_119669840delinsCTT | CA1940190746 | BAG3 | c.181-13_181-11delinsCTT (n.181-13_181-11delinsCTT) c.7-13_7-11delinsCTT (n.7-13_7-11delinsCTT) | |
10 | g.119669842_119669843del | CA1940190747 | BAG3 | c.181-9_181-8del (n.181-9_181-8del) c.7-9_7-8del (n.7-9_7-8del) | dbSNP |
10 | g.119669841T>C | CA5716257 | BAG3 | c.181-10T>C (n.181-10T>C) c.7-10T>C (n.7-10T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.119669841T= | CA1940190750 | BAG3 | c.181-10T= (n.181-10T=) c.7-10T= (n.7-10T=) | |
10 | g.119669842T>A | CA289663 | BAG3 | c.181-9T>A (n.181-9T>A) c.7-9T>A (n.7-9T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119669842T= | CA1940190754 | BAG3 | c.181-9T= (n.181-9T=) c.7-9T= (n.7-9T=) | |
10 | g.119669843T>C | CA660673505 | BAG3 | c.181-8T>C (n.181-8T>C) c.7-8T>C (n.7-8T>C) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.119669843T>G | CA5716258 | BAG3 | c.181-8T>G (n.181-8T>G) c.7-8T>G (n.7-8T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.119669843T= | CA1940190758 | BAG3 | c.181-8T= (n.181-8T=) c.7-8T= (n.7-8T=) | |
10 | g.119669844A>G | CA2611159844 | BAG3 | c.181-7A>G (n.181-7A>G) c.7-7A>G (n.7-7A>G) | gnomAD v4 |
10 | g.119669844A>T | CA2611159845 | BAG3 | c.181-7A>T (n.181-7A>T) c.7-7A>T (n.7-7A>T) | gnomAD v4 |
10 | g.119669845T>C | CA2499220169 | BAG3 | c.181-6T>C (n.181-6T>C) c.7-6T>C (n.7-6T>C) | ClinVar dbSNP |
10 | g.119669848C= | CA1940190763 | BAG3 | c.181-3C= (n.181-3C=) c.7-3C= (n.7-3C=) | |
10 | g.119669848C>G | CA596578115 | BAG3 | c.181-3C>G (n.181-3C>G) c.7-3C>G (n.7-3C>G) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.119669848C>T | CA660673510 | BAG3 | c.181-3C>T (n.181-3C>T) c.7-3C>T (n.7-3C>T) | dbSNP |
10 | g.119669849A>C | CA378294592 | BAG3 | c.181-2A>C (n.181-2A>C) c.7-2A>C (n.7-2A>C) | |
10 | g.119669849A>G | CA378294593 | BAG3 | c.181-2A>G (n.181-2A>G) c.7-2A>G (n.7-2A>G) | |
10 | g.119669849A>T | CA378294594 | BAG3 | c.181-2A>T (n.181-2A>T) c.7-2A>T (n.7-2A>T) | |
10 | g.119669850G>A | CA378294597 | BAG3 | c.181-1G>A (n.181-1G>A) c.7-1G>A (n.7-1G>A) | |
10 | g.119669850G>C | CA378294596 | BAG3 | c.181-1G>C (n.181-1G>C) c.7-1G>C (n.7-1G>C) | |
10 | g.119669850G>T | CA378294595 | BAG3 | c.181-1G>T (n.181-1G>T) c.7-1G>T (n.7-1G>T) | |
10 | g.119669851G>A | CA5716259 | BAG3 | c.181G>A (p.Glu61Lys) c.7G>A (p.Glu3Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119669851G>C | CA378294598 | BAG3 | c.181G>C (p.Glu61Gln) c.7G>C (p.Glu3Gln) | |
10 | g.119669851G= | CA1940190766 | BAG3 | c.181G= (p.Glu61=) c.7G= (p.Glu3=) | |
10 | g.119669851G>T | CA378294599 | BAG3 | c.181G>T (p.Glu61Ter) c.7G>T (p.Glu3Ter) | |
10 | g.119669852A>C | CA378294600 | BAG3 | c.182A>C (p.Glu61Ala) c.8A>C (p.Glu3Ala) | |
10 | g.119669852A>G | CA378294601 | BAG3 | c.182A>G (p.Glu61Gly) c.8A>G (p.Glu3Gly) | gnomAD v4 |
10 | g.119669852A>T | CA378294602 | BAG3 | c.182A>T (p.Glu61Val) c.8A>T (p.Glu3Val) | |
10 | g.119669853G>A | CA471634387 | BAG3 | c.183G>A (p.Glu61=) c.9G>A (p.Glu3=) | gnomAD v4 |
10 | g.119669853G>C | CA378294603 | BAG3 | c.183G>C (p.Glu61Asp) c.9G>C (p.Glu3Asp) | |
10 | g.119669853G= | CA1940190767 | BAG3 | c.183G= (p.Glu61=) c.9G= (p.Glu3=) | |
10 | g.119669853G>T | CA214219646 | BAG3 | c.183G>T (p.Glu61Asp) c.9G>T (p.Glu3Asp) | dbSNP gnomAD v4 |
10 | g.119669854A= | CA1940190770 | BAG3 | c.184A= (p.Thr62=) c.10A= (p.Thr4=) | |
10 | g.119669854A>C | CA378294604 | BAG3 | c.184A>C (p.Thr62Pro) c.10A>C (p.Thr4Pro) | dbSNP |
10 | g.119669854A>G | CA378294605 | BAG3 | c.184A>G (p.Thr62Ala) c.10A>G (p.Thr4Ala) | |
10 | g.119669854A>T | CA378294606 | BAG3 | c.184A>T (p.Thr62Ser) c.10A>T (p.Thr4Ser) | |
10 | g.119669855C>A | CA378294607 | BAG3 | c.185C>A (p.Thr62Asn) c.11C>A (p.Thr4Asn) | |
10 | g.119669855C= | CA1940190772 | BAG3 | c.185C= (p.Thr62=) c.11C= (p.Thr4=) | |
10 | g.119669855C>G | CA378294608 | BAG3 | c.185C>G (p.Thr62Ser) c.11C>G (p.Thr4Ser) | |
10 | g.119669855C>T | CA378294609 | BAG3 | c.185C>T (p.Thr62Ile) c.11C>T (p.Thr4Ile) | ClinVar dbSNP gnomAD v4 |
10 | g.119669856T>A | CA471634388 | BAG3 | c.186T>A (p.Thr62=) c.12T>A (p.Thr4=) | |
10 | g.119669856T>C | CA471634389 | BAG3 | c.186T>C (p.Thr62=) c.12T>C (p.Thr4=) | |
10 | g.119669856T>G | CA471634390 | BAG3 | c.186T>G (p.Thr62=) c.12T>G (p.Thr4=) | |
10 | g.119669857C>A | CA378294610 | BAG3 | c.187C>A (p.Pro63Thr) c.13C>A (p.Pro5Thr) | gnomAD v4 |
10 | g.119669857C= | CA1940190774 | BAG3 | c.187C= (p.Pro63=) c.13C= (p.Pro5=) | |
10 | g.119669857C>G | CA181162 | BAG3 | c.187C>G (p.Pro63Ala) c.13C>G (p.Pro5Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119669857C>T | CA378294611 | BAG3 | c.187C>T (p.Pro63Ser) c.13C>T (p.Pro5Ser) | gnomAD v4 |
10 | g.119669858C>A | CA378294612 | BAG3 | c.188C>A (p.Pro63Gln) c.14C>A (p.Pro5Gln) |