| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.23321484_23321492dup | CA10603299 | BCL2L2-PABPN1,PABPN1 | c.15_23dup (p.Ala8_Ala9insAlaAlaAla) c.529-697_529-689dup (n.529-697_529-689dup) c.433-697_433-689dup (n.433-697_433-689dup) c.550-697_550-689dup (n.550-697_550-689dup) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23321487_23321492dup | CA10603306 | BCL2L2-PABPN1,PABPN1 | c.18_23dup (p.Ala8_Ala9insAlaAla) c.529-694_529-689dup (n.529-694_529-689dup) c.433-694_433-689dup (n.433-694_433-689dup) c.550-694_550-689dup (n.550-694_550-689dup) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23321478_23321492dup | CA919376011 | BCL2L2-PABPN1,PABPN1 | c.9_23dup (p.Ala8_Ala9insAlaAlaAlaAlaAla) c.529-703_529-689dup (n.529-703_529-689dup) c.433-703_433-689dup (n.433-703_433-689dup) c.550-703_550-689dup (n.550-703_550-689dup) | ClinVar dbSNP gnomAD v4 |
| 14 | g.23321478_23321492del | CA919376006 | BCL2L2-PABPN1,PABPN1 | c.9_23del (p.Ala4_Ala8del) c.529-703_529-689del (n.529-703_529-689del) c.433-703_433-689del (n.433-703_433-689del) c.550-703_550-689del (n.550-703_550-689del) | dbSNP |
| 14 | g.23321481_23321492dup | CA658798194 | BCL2L2-PABPN1,PABPN1 | c.12_23dup (p.Ala8_Ala9insAlaAlaAlaAla) c.529-700_529-689dup (n.529-700_529-689dup) c.433-700_433-689dup (n.433-700_433-689dup) c.550-700_550-689dup (n.550-700_550-689dup) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23321490_23321492del | CA7112522 | BCL2L2-PABPN1,PABPN1 | c.21_23del (p.Ala8del) c.529-691_529-689del (n.529-691_529-689del) c.433-691_433-689del (n.433-691_433-689del) c.550-691_550-689del (n.550-691_550-689del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23321492_23321493insGGCGGCGGCGGCGGCGGCGGCGGC | CA919376008 | BCL2L2-PABPN1,PABPN1 | c.23_24insGGCGGCGGCGGCGGCGGCGGCGGC (p.Ala8_Ala9insAlaAlaAlaAlaAlaAlaAlaAla) c.529-689_529-688insGGCGGCGGCGGCGGCGGCGGCGGC (n.529-689_529-688insGGCGGCGGCGGCGGCGGCGGCGGC) c.433-689_433-688insGGCGGCGGCGGCGGCGGCGGCGGC (n.433-689_433-688insGGCGGCGGCGGCGGCGGCGGCGGC) c.550-689_550-688insGGCGGCGGCGGCGGCGGCGGCGGC (n.550-689_550-688insGGCGGCGGCGGCGGCGGCGGCGGC) | dbSNP |
| 14 | g.23321487_23321492del | CA704293632 | BCL2L2-PABPN1,PABPN1 | c.18_23del (p.Ala7_Ala8del) c.529-694_529-689del (n.529-694_529-689del) c.433-694_433-689del (n.433-694_433-689del) c.550-694_550-689del (n.550-694_550-689del) | dbSNP gnomAD v4 |
| 14 | g.23321475_23321492dup | CA919376010 | BCL2L2-PABPN1,PABPN1 | c.6_23dup (p.Ala8_Ala9insAlaAlaAlaAlaAlaAla) c.529-706_529-689dup (n.529-706_529-689dup) c.433-706_433-689dup (n.433-706_433-689dup) c.550-706_550-689dup (n.550-706_550-689dup) | dbSNP |
| 14 | g.23321484_23321492del | CA704293629 | BCL2L2-PABPN1,PABPN1 | c.15_23del (p.Ala6_Ala8del) c.529-697_529-689del (n.529-697_529-689del) c.433-697_433-689del (n.433-697_433-689del) c.550-697_550-689del (n.550-697_550-689del) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23321492_23321493insGGCGGCGGCGGCGGCGGCGGCGGCGGC | CA919376007 | BCL2L2-PABPN1,PABPN1 | c.23_24insGGCGGCGGCGGCGGCGGCGGCGGCGGC (p.Ala8_Ala9insAlaAlaAlaAlaAlaAlaAlaAlaAla) c.529-689_529-688insGGCGGCGGCGGCGGCGGCGGCGGCGGC (n.529-689_529-688insGGCGGCGGCGGCGGCGGCGGCGGCGGC) c.433-689_433-688insGGCGGCGGCGGCGGCGGCGGCGGCGGC (n.433-689_433-688insGGCGGCGGCGGCGGCGGCGGCGGCGGC) c.550-689_550-688insGGCGGCGGCGGCGGCGGCGGCGGCGGC (n.550-689_550-688insGGCGGCGGCGGCGGCGGCGGCGGCGGC) | dbSNP |
| 14 | g.23321490_23321492dup | CA257773637 | BCL2L2-PABPN1,PABPN1 | c.21_23dup (p.Ala8_Ala9insAla) c.529-691_529-689dup (n.529-691_529-689dup) c.433-691_433-689dup (n.433-691_433-689dup) c.550-691_550-689dup (n.550-691_550-689dup) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23321472_23321492dup | CA919376009 | BCL2L2-PABPN1,PABPN1 | c.3_23dup (p.Ala8_Ala9insAlaAlaAlaAlaAlaAlaAla) c.529-709_529-689dup (n.529-709_529-689dup) c.433-709_433-689dup (n.433-709_433-689dup) c.550-709_550-689dup (n.550-709_550-689dup) | dbSNP |