Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.5218346_5226066del | CA916083167 | ClinVar | ||
11 | g.5224303_5227790del | CA2499220996 | ClinVar | ||
11 | g.5225158_5227199delinsCTTAT | CA916083168 | ClinVar | ||
11 | g.5225255_5225875delinsCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCA | CA1949563432 | |||
11 | g.5225256_5225874delinsAAGTAG | CA658820845 | |||
11 | g.5225256_5225874delinsTCTACTT | CA923726280 | |||
11 | g.5225256_5225875delinsTCTACCT | CA915940749 | |||
11 | g.5225256_5225875delinsTCTACTT | CA915940716 | ClinVar dbSNP | ||
11 | g.5225388_5226007delinsTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAA | CA1949563581 | |||
11 | g.5225389_5226007del | CA916083169 | ClinVar dbSNP | ||
11 | g.5225465_5225875delinsTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCA | CA1949563650 | HBB | c.316-149_*133delinsTGATGTAAGAGGTTTCATATTGCTAATAGCAGCTACAATCCAGCTACCATTCTGCTTTTATTTTATGGTTGGGATAAGGCTGGATTATTCTGAGTCCAAGCTAGGCCCTTTTGCTAATCATGTTCATACCTCTTATCTTCCTCCCACAGCTCCTGGGCAACGTGCTGGTCTGTGTGCTGGCCCATCACTTTGGCAAAGAATTCACCCCACCAGTGCAGGCTGCCTATCAGAAAGTGGTGGCTGGTGTGGCTAATGCCCTGGCCCACAAGTATCACTAAGCTCGCTTTCTTGCTGTCCAATTTCTATTAAAGGTTCCTTTGTTCCCTAAGTCCAACTACTAAACTGGGGGATATTATGAAGGGCCTTGAGCATCTGGATTCTGCCTAATAAAAAACATTTATTTTCATTGCA | |
11 | g.5225467_5225876del | CA915947982 | HBB | c.316-149_*132del | ClinVar dbSNP |
11 | g.5225706_5225810del | CA2695213023 | HBB | c.316-82_338del n.248-82_270del c.*132-82_*154del | |
11 | g.5225740A= | CA1949565446 | HBB | c.316-14T= (n.316-14T=) n.248-14T= c.*132-14T= (n.*132-14T=) | |
11 | g.5225740A>C | CA342858 | HBB | c.316-14T>G (n.316-14T>G) n.248-14T>G c.*132-14T>G (n.*132-14T>G) | ClinVar dbSNP gnomAD v4 |
11 | g.5225740A>G | CA2573131838 | HBB | c.316-14T>C (n.316-14T>C) n.248-14T>C c.*132-14T>C (n.*132-14T>C) | ClinVar |
11 | g.5225741T>C | CA2499220998 | HBB | c.316-15A>G (n.316-15A>G) n.248-15A>G c.*132-15A>G (n.*132-15A>G) | ClinVar dbSNP gnomAD v4 |
11 | g.5225741T>G | CA2790275154 | HBB | c.316-15A>C (n.316-15A>C) n.248-15A>C c.*132-15A>C (n.*132-15A>C) | |
11 | g.5225744G>A | CA597217533 | HBB | c.316-18C>T (n.316-18C>T) n.248-18C>T c.*132-18C>T (n.*132-18C>T) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.5225744G= | CA1949565450 | HBB | c.316-18C= (n.316-18C=) n.248-18C= c.*132-18C= (n.*132-18C=) | |
11 | g.5225745A= | CA1949565454 | HBB | c.316-19T= (n.316-19T=) n.248-19T= c.*132-19T= (n.*132-19T=) | |
11 | g.5225745A>T | CA5839715 | HBB | c.316-19T>A (n.316-19T>A) n.248-19T>A c.*132-19T>A (n.*132-19T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.5225745dup | CA2790275155 | HBB | c.316-19dup (n.316-19dup) n.248-19dup c.*132-19dup (n.*132-19dup) | |
11 | g.5225746G>A | CA2499220999 | HBB | c.316-20C>T (n.316-20C>T) n.248-20C>T c.*132-20C>T (n.*132-20C>T) | ClinVar dbSNP gnomAD v4 |
11 | g.5225746G>C | CA5839716 | HBB | c.316-20C>G (n.316-20C>G) n.248-20C>G c.*132-20C>G (n.*132-20C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.5225746G= | CA1949565466 | HBB | c.316-20C= (n.316-20C=) n.248-20C= c.*132-20C= (n.*132-20C=) | |
11 | g.5225747G>A | CA5839717 | HBB | c.316-21C>T (n.316-21C>T) n.248-21C>T c.*132-21C>T (n.*132-21C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.5225747G= | CA1949565470 | HBB | c.316-21C= (n.316-21C=) n.248-21C= c.*132-21C= (n.*132-21C=) | |
11 | g.5225748T>C | CA934687377 | HBB | c.316-22A>G (n.316-22A>G) n.248-22A>G c.*132-22A>G (n.*132-22A>G) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.5225748T= | CA1949565473 | HBB | c.316-22A= (n.316-22A=) n.248-22A= c.*132-22A= (n.*132-22A=) | |
11 | g.5225749A>C | CA2723200020 | HBB | c.316-23T>G (n.316-23T>G) n.248-23T>G c.*132-23T>G (n.*132-23T>G) | dbSNP |
11 | g.5225750T>C | CA217112911 | HBB | c.316-24A>G (n.316-24A>G) n.248-24A>G c.*132-24A>G (n.*132-24A>G) | ClinVar dbSNP gnomAD v4 |
11 | g.5225750T>G | CA934687378 | HBB | c.316-24A>C (n.316-24A>C) n.248-24A>C c.*132-24A>C (n.*132-24A>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.5225750T= | CA1949565476 | HBB | c.316-24A= (n.316-24A=) n.248-24A= c.*132-24A= (n.*132-24A=) | |
11 | g.5225751G>A | CA2580083907 | HBB | c.316-25C>T (n.316-25C>T) n.248-25C>T c.*132-25C>T (n.*132-25C>T) | ClinVar |
11 | g.5225751G>C | CA5839718 | HBB | c.316-25C>G (n.316-25C>G) n.248-25C>G c.*132-25C>G (n.*132-25C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.5225751G= | CA1949565479 | HBB | c.316-25C= (n.316-25C=) n.248-25C= c.*132-25C= (n.*132-25C=) | |
11 | g.5225752A= | CA1949565481 | HBB | c.316-26T= (n.316-26T=) n.248-26T= c.*132-26T= (n.*132-26T=) | |
11 | g.5225752A>C | CA915947983 | HBB | c.316-26T>G (n.316-26T>G) n.248-26T>G c.*132-26T>G (n.*132-26T>G) | ClinVar dbSNP |
11 | g.5225753A= | CA1949565488 | HBB | c.316-27T= (n.316-27T=) n.248-27T= c.*132-27T= (n.*132-27T=) | |
11 | g.5225753A>C | CA677552453 | HBB | c.316-27T>G (n.316-27T>G) n.248-27T>G c.*132-27T>G (n.*132-27T>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.5225753A>G | CA677552456 | HBB | c.316-27T>C (n.316-27T>C) n.248-27T>C c.*132-27T>C (n.*132-27T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.5225754C>A | CA2573147092 | HBB | c.316-28G>T (n.316-28G>T) n.248-28G>T c.*132-28G>T (n.*132-28G>T) | ClinVar dbSNP |
11 | g.5225754C= | CA1949565498 | HBB | c.316-28G= (n.316-28G=) n.248-28G= c.*132-28G= (n.*132-28G=) | |
11 | g.5225754C>G | CA597217534 | HBB | c.316-28G>C (n.316-28G>C) n.248-28G>C c.*132-28G>C (n.*132-28G>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.5225754C>T | CA5839719 | HBB | c.316-28G>A (n.316-28G>A) n.248-28G>A c.*132-28G>A (n.*132-28G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.5225755A= | CA1949565503 | HBB | c.316-29T= (n.316-29T=) n.248-29T= c.*132-29T= (n.*132-29T=) | |
11 | g.5225755A>G | CA2573147093 | HBB | c.316-29T>C (n.316-29T>C) n.248-29T>C c.*132-29T>C (n.*132-29T>C) | ClinVar dbSNP gnomAD v4 |
11 | g.5225755A>T | CA1949565504 | HBB | c.316-29T>A (n.316-29T>A) n.248-29T>A c.*132-29T>A (n.*132-29T>A) | dbSNP gnomAD v4 |
11 | g.5225756T>G | CA342862 | HBB | c.316-30A>C (n.316-30A>C) n.248-30A>C c.*132-30A>C (n.*132-30A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |