UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.52034716_52034895del | CA956030413 | ALG11,NEK5 | c.*2067_*2246del (n.*2067_*2246del) c.275+15573_275+15752del (n.275+15573_275+15752del) n.44+22254_44+22433del n.2770_2949del | gnomAD v3 gnomAD v4 |
| 13 | g.52034716_52034894del | CA609964159 | ALG11,NEK5 | c.*2067_*2245del (n.*2067_*2245del) c.275+15573_275+15751del (n.275+15573_275+15751del) n.44+22254_44+22432del n.2770_2948del | gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.52034716_52034892del | CA956030419 | ALG11,NEK5 | c.*2067_*2243del (n.*2067_*2243del) c.275+15573_275+15749del (n.275+15573_275+15749del) n.44+22254_44+22430del n.2770_2946del | gnomAD v3 gnomAD v4 |
| 13 | g.52034716_52034891del | CA609964160 | ALG11,NEK5 | c.*2067_*2242del (n.*2067_*2242del) c.275+15573_275+15748del (n.275+15573_275+15748del) n.44+22254_44+22429del n.2770_2945del | gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.52034716_52034890del | CA2623122103 | ALG11,NEK5 | c.*2067_*2241del (n.*2067_*2241del) c.275+15573_275+15747del (n.275+15573_275+15747del) n.44+22254_44+22428del n.2770_2944del | gnomAD v4 |
| 13 | g.52034716_52034887del | CA956030421 | ALG11,NEK5 | c.*2067_*2238del (n.*2067_*2238del) c.275+15573_275+15744del (n.275+15573_275+15744del) n.44+22254_44+22425del n.2770_2941del | gnomAD v3 gnomAD v4 |
| 13 | g.52034881_52034889del | CA698970984 | ALG11,NEK5 | c.*2070_*2078del (n.*2070_*2078del) c.275+15738_275+15746del (n.275+15738_275+15746del) n.44+22419_44+22427del n.2773_2781del | dbSNP |
| 13 | g.52034881_52034893del | CA2593284703 | ALG11,NEK5 | c.*2063_*2075del (n.*2063_*2075del) c.275+15738_275+15750del (n.275+15738_275+15750del) n.44+22419_44+22431del n.2766_2778del | gnomAD v3 gnomAD v4 |
| 13 | g.52034878_52034899dup | CA956030719 | ALG11,NEK5 | c.*2054_*2075dup (n.*2054_*2075dup) c.275+15735_275+15756dup (n.275+15735_275+15756dup) n.44+22416_44+22437dup n.2757_2778dup | gnomAD v3 gnomAD v4 |
| 13 | g.52034881_52034888del | CA250073346 | ALG11,NEK5 | c.*2067_*2074del (n.*2067_*2074del) c.275+15738_275+15745del (n.275+15738_275+15745del) n.44+22419_44+22426del n.2770_2777del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.52034881_52034887del | CA698970996 | ALG11,NEK5 | c.*2067_*2073del (n.*2067_*2073del) c.275+15738_275+15744del (n.275+15738_275+15744del) n.44+22419_44+22425del n.2770_2776del | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.52034881_52034886del | CA698970998 | ALG11,NEK5 | c.*2067_*2072del (n.*2067_*2072del) c.275+15738_275+15743del (n.275+15738_275+15743del) n.44+22419_44+22424del n.2770_2775del | dbSNP |
| 13 | g.52034881_52034891delinsCTTTTTTTTTT | CA2091591391 | ALG11,NEK5 | c.*2057_*2067delinsAAAAAAAAAAG (n.*2057_*2067delinsAAAAAAAAAAG) c.275+15738_275+15748delinsCTTTTTTTTTT (n.275+15738_275+15748delinsCTTTTTTTTTT) n.44+22419_44+22429delinsCTTTTTTTTTT n.2760_2770delinsAAAAAAAAAAG | |
| 13 | g.52034899_52034900insTTTTTTTTTTTTTTTTTTT | CA956030948 | ALG11,NEK5 | c.*2066_*2067insAAAAAAAAAAAAAAAAAAA (n.*2066_*2067insAAAAAAAAAAAAAAAAAAA) c.275+15756_275+15757insTTTTTTTTTTTTTTTTTTT (n.275+15756_275+15757insTTTTTTTTTTTTTTTTTTT) n.44+22437_44+22438insTTTTTTTTTTTTTTTTTTT n.2769_2770insAAAAAAAAAAAAAAAAAAA | gnomAD v3 gnomAD v4 |
| 13 | g.52034899_52034900insTTCTTTTTTTTTTTTTTTTTTT | CA956030962 | ALG11,NEK5 | c.*2066_*2067insAGAAAAAAAAAAAAAAAAAAAA (n.*2066_*2067insAGAAAAAAAAAAAAAAAAAAAA) c.275+15756_275+15757insTTCTTTTTTTTTTTTTTTTTTT (n.275+15756_275+15757insTTCTTTTTTTTTTTTTTTTTTT) n.44+22437_44+22438insTTCTTTTTTTTTTTTTTTTTTT n.2769_2770insAGAAAAAAAAAAAAAAAAAAAA | |
| 13 | g.52034899_52034900insTTTTTTTTTTTTTTTTTTTTTT | CA956030921 | ALG11,NEK5 | c.*2066_*2067insAAAAAAAAAAAAAAAAAAAAAA (n.*2066_*2067insAAAAAAAAAAAAAAAAAAAAAA) c.275+15756_275+15757insTTTTTTTTTTTTTTTTTTTTTT (n.275+15756_275+15757insTTTTTTTTTTTTTTTTTTTTTT) n.44+22437_44+22438insTTTTTTTTTTTTTTTTTTTTTT n.2769_2770insAAAAAAAAAAAAAAAAAAAAAA | gnomAD v3 gnomAD v4 |
| 13 | g.52034899_52034900insTTTCTTTTTTTTTTTTTTTTTTT | CA956030955 | ALG11,NEK5 | c.*2066_*2067insAGAAAAAAAAAAAAAAAAAAAAA (n.*2066_*2067insAGAAAAAAAAAAAAAAAAAAAAA) c.275+15756_275+15757insTTTCTTTTTTTTTTTTTTTTTTT (n.275+15756_275+15757insTTTCTTTTTTTTTTTTTTTTTTT) n.44+22437_44+22438insTTTCTTTTTTTTTTTTTTTTTTT n.2769_2770insAGAAAAAAAAAAAAAAAAAAAAA | gnomAD v3 gnomAD v4 |
| 13 | g.52034899_52034900insTTTTTTTTTTTTTTTTTTTTTTT | CA956030864 | ALG11,NEK5 | c.*2066_*2067insAAAAAAAAAAAAAAAAAAAAAAA (n.*2066_*2067insAAAAAAAAAAAAAAAAAAAAAAA) c.275+15756_275+15757insTTTTTTTTTTTTTTTTTTTTTTT (n.275+15756_275+15757insTTTTTTTTTTTTTTTTTTTTTTT) n.44+22437_44+22438insTTTTTTTTTTTTTTTTTTTTTTT n.2769_2770insAAAAAAAAAAAAAAAAAAAAAAA | gnomAD v3 gnomAD v4 |
| 13 | g.52034899_52034900insTTTTCTTTTTTTTTTTTTTTTTTT | CA956030940 | ALG11,NEK5 | c.*2066_*2067insAGAAAAAAAAAAAAAAAAAAAAAA (n.*2066_*2067insAGAAAAAAAAAAAAAAAAAAAAAA) c.275+15756_275+15757insTTTTCTTTTTTTTTTTTTTTTTTT (n.275+15756_275+15757insTTTTCTTTTTTTTTTTTTTTTTTT) n.44+22437_44+22438insTTTTCTTTTTTTTTTTTTTTTTTT n.2769_2770insAGAAAAAAAAAAAAAAAAAAAAAA | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.52034899_52034900insTTTTTTTTTTTTTTTTTTTTTTTT | CA956030858 | ALG11,NEK5 | c.*2066_*2067insAAAAAAAAAAAAAAAAAAAAAAAA (n.*2066_*2067insAAAAAAAAAAAAAAAAAAAAAAAA) c.275+15756_275+15757insTTTTTTTTTTTTTTTTTTTTTTTT (n.275+15756_275+15757insTTTTTTTTTTTTTTTTTTTTTTTT) n.44+22437_44+22438insTTTTTTTTTTTTTTTTTTTTTTTT n.2769_2770insAAAAAAAAAAAAAAAAAAAAAAAA | gnomAD v3 gnomAD v4 |
| 13 | g.52034899_52034900insTTTTTTTTTTTTTTTTTTTTTTTTT | CA956030856 | ALG11,NEK5 | c.*2066_*2067insAAAAAAAAAAAAAAAAAAAAAAAAA (n.*2066_*2067insAAAAAAAAAAAAAAAAAAAAAAAAA) c.275+15756_275+15757insTTTTTTTTTTTTTTTTTTTTTTTTT (n.275+15756_275+15757insTTTTTTTTTTTTTTTTTTTTTTTTT) n.44+22437_44+22438insTTTTTTTTTTTTTTTTTTTTTTTTT n.2769_2770insAAAAAAAAAAAAAAAAAAAAAAAAA | gnomAD v3 gnomAD v4 |
| 13 | g.52034899_52034900insTTTTTTTTTTTTTTTTTTTTTTTTTT | CA956030854 | ALG11,NEK5 | c.*2066_*2067insAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*2066_*2067insAAAAAAAAAAAAAAAAAAAAAAAAAA) c.275+15756_275+15757insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.275+15756_275+15757insTTTTTTTTTTTTTTTTTTTTTTTTTT) n.44+22437_44+22438insTTTTTTTTTTTTTTTTTTTTTTTTTT n.2769_2770insAAAAAAAAAAAAAAAAAAAAAAAAAA | gnomAD v3 gnomAD v4 |
| 13 | g.52034899_52034900insTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA956030852 | ALG11,NEK5 | c.*2066_*2067insAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*2066_*2067insAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.275+15756_275+15757insTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.275+15756_275+15757insTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.44+22437_44+22438insTTTTTTTTTTTTTTTTTTTTTTTTTTT n.2769_2770insAAAAAAAAAAAAAAAAAAAAAAAAAAA | gnomAD v3 gnomAD v4 |
| 13 | g.52034899_52034900insTTTTTTTCTTTTTTTTTTTTTTTTTTTT | CA956030855 | ALG11,NEK5 | c.*2066_*2067insAAGAAAAAAAAAAAAAAAAAAAAAAAAA (n.*2066_*2067insAAGAAAAAAAAAAAAAAAAAAAAAAAAA) c.275+15756_275+15757insTTTTTTTCTTTTTTTTTTTTTTTTTTTT (n.275+15756_275+15757insTTTTTTTCTTTTTTTTTTTTTTTTTTTT) n.44+22437_44+22438insTTTTTTTCTTTTTTTTTTTTTTTTTTTT n.2769_2770insAAGAAAAAAAAAAAAAAAAAAAAAAAAA | gnomAD v3 gnomAD v4 |
| 13 | g.52034899_52034900insTCTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA250073365 | ALG11,NEK5 | c.*2066_*2067insAAAAAAAAAAGAAAAAAAAAAAAAAAAAAA (n.*2066_*2067insAAAAAAAAAAGAAAAAAAAAAAAAAAAAAA) c.275+15756_275+15757insTCTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.275+15756_275+15757insTCTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.44+22437_44+22438insTCTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.2769_2770insAAAAAAAAAAGAAAAAAAAAAAAAAAAAAA | dbSNP |
| 13 | g.52034899_52034900insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA956030850 | ALG11,NEK5 | c.*2066_*2067insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*2066_*2067insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.275+15756_275+15757insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.275+15756_275+15757insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.44+22437_44+22438insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.2769_2770insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | gnomAD v3 gnomAD v4 |
| 13 | g.52034899_52034900insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA956030847 | ALG11,NEK5 | c.*2066_*2067insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*2066_*2067insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.275+15756_275+15757insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.275+15756_275+15757insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.44+22437_44+22438insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.2769_2770insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | gnomAD v3 gnomAD v4 |
| 13 | g.52034899_52034900insTTCCCTTAATTTTTTTTTTTTTTTTTTTTTTT | CA956030999 | ALG11,NEK5 | c.*2066_*2067insAAAAATTAAGGGAAAAAAAAAAAAAAAAAAAA (n.*2066_*2067insAAAAATTAAGGGAAAAAAAAAAAAAAAAAAAA) c.275+15756_275+15757insTTCCCTTAATTTTTTTTTTTTTTTTTTTTTTT (n.275+15756_275+15757insTTCCCTTAATTTTTTTTTTTTTTTTTTTTTTT) n.44+22437_44+22438insTTCCCTTAATTTTTTTTTTTTTTTTTTTTTTT n.2769_2770insAAAAATTAAGGGAAAAAAAAAAAAAAAAAAAA | gnomAD v3 gnomAD v4 |
| 13 | g.52034899_52034900insTTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA956030972 | ALG11,NEK5 | c.*2066_*2067insAAAAAAAAAGGGAAAAAAAAAAAAAAAAAAAA (n.*2066_*2067insAAAAAAAAAGGGAAAAAAAAAAAAAAAAAAAA) c.275+15756_275+15757insTTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.275+15756_275+15757insTTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.44+22437_44+22438insTTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTT n.2769_2770insAAAAAAAAAGGGAAAAAAAAAAAAAAAAAAAA | gnomAD v3 gnomAD v4 |
| 13 | g.52034899_52034900insTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA956030954 | ALG11,NEK5 | c.*2066_*2067insAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAA (n.*2066_*2067insAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAA) c.275+15756_275+15757insTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.275+15756_275+15757insTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.44+22437_44+22438insTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.2769_2770insAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAA | gnomAD v3 gnomAD v4 |
| 13 | g.52034899_52034900insTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT | CA2799209686 | ALG11,NEK5 | c.*2066_*2067insAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAA (n.*2066_*2067insAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAA) c.275+15756_275+15757insTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT (n.275+15756_275+15757insTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT) n.44+22437_44+22438insTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT n.2769_2770insAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAA | |
| 13 | g.52034899_52034900insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA956030845 | ALG11,NEK5 | c.*2066_*2067insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*2066_*2067insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.275+15756_275+15757insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.275+15756_275+15757insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.44+22437_44+22438insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.2769_2770insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | gnomAD v3 gnomAD v4 |
| 13 | g.52034899_52034900insTCCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA956030943 | ALG11,NEK5 | c.*2066_*2067insAAAAAAAAAAGGGGAAAAAAAAAAAAAAAAAAA (n.*2066_*2067insAAAAAAAAAAGGGGAAAAAAAAAAAAAAAAAAA) c.275+15756_275+15757insTCCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.275+15756_275+15757insTCCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.44+22437_44+22438insTCCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.2769_2770insAAAAAAAAAAGGGGAAAAAAAAAAAAAAAAAAA | gnomAD v3 gnomAD v4 |
| 13 | g.52034899_52034900insTTCCCTTATTTTTTTTTTTTTTTTTTTTTTTTT | CA956030984 | ALG11,NEK5 | c.*2066_*2067insAAAAAAATAAGGGAAAAAAAAAAAAAAAAAAAA (n.*2066_*2067insAAAAAAATAAGGGAAAAAAAAAAAAAAAAAAAA) c.275+15756_275+15757insTTCCCTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.275+15756_275+15757insTTCCCTTATTTTTTTTTTTTTTTTTTTTTTTTT) n.44+22437_44+22438insTTCCCTTATTTTTTTTTTTTTTTTTTTTTTTTT n.2769_2770insAAAAAAATAAGGGAAAAAAAAAAAAAAAAAAAA | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.52034899_52034900insTTTCCTTTATTTTTTTTTTTTTTTTTTTTTTTT | CA956030959 | ALG11,NEK5 | c.*2066_*2067insAAAAAATAAAGGAAAAAAAAAAAAAAAAAAAAA (n.*2066_*2067insAAAAAATAAAGGAAAAAAAAAAAAAAAAAAAAA) c.275+15756_275+15757insTTTCCTTTATTTTTTTTTTTTTTTTTTTTTTTT (n.275+15756_275+15757insTTTCCTTTATTTTTTTTTTTTTTTTTTTTTTTT) n.44+22437_44+22438insTTTCCTTTATTTTTTTTTTTTTTTTTTTTTTTT n.2769_2770insAAAAAATAAAGGAAAAAAAAAAAAAAAAAAAAA | gnomAD v3 gnomAD v4 |
| 13 | g.52034899_52034900insTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA2593284720 | ALG11,NEK5 | c.*2066_*2067insAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAA (n.*2066_*2067insAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAA) c.275+15756_275+15757insTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.275+15756_275+15757insTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.44+22437_44+22438insTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.2769_2770insAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAA | gnomAD v3 gnomAD v4 |
| 13 | g.52034899_52034900insTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA2593284715 | ALG11,NEK5 | c.*2066_*2067insAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAA (n.*2066_*2067insAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAA) c.275+15756_275+15757insTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.275+15756_275+15757insTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.44+22437_44+22438insTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.2769_2770insAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAA | gnomAD v3 gnomAD v4 |
| 13 | g.52034899_52034900insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA956030841 | ALG11,NEK5 | c.*2066_*2067insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*2066_*2067insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.275+15756_275+15757insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.275+15756_275+15757insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.44+22437_44+22438insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.2769_2770insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | gnomAD v3 gnomAD v4 |
| 13 | g.52034899_52034900insTTTCCTTTATTTTTTTTTTTTTTTTTTTTTTTTT | CA956030957 | ALG11,NEK5 | c.*2066_*2067insAAAAAAATAAAGGAAAAAAAAAAAAAAAAAAAAA (n.*2066_*2067insAAAAAAATAAAGGAAAAAAAAAAAAAAAAAAAAA) c.275+15756_275+15757insTTTCCTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.275+15756_275+15757insTTTCCTTTATTTTTTTTTTTTTTTTTTTTTTTTT) n.44+22437_44+22438insTTTCCTTTATTTTTTTTTTTTTTTTTTTTTTTTT n.2769_2770insAAAAAAATAAAGGAAAAAAAAAAAAAAAAAAAAA | gnomAD v3 gnomAD v4 |
| 13 | g.52034899_52034900insTTTTCTTTATTTTTTTTTTTTTTTTTTTTTTTTT | CA956030870 | ALG11,NEK5 | c.*2066_*2067insAAAAAAATAAAGAAAAAAAAAAAAAAAAAAAAAA (n.*2066_*2067insAAAAAAATAAAGAAAAAAAAAAAAAAAAAAAAAA) c.275+15756_275+15757insTTTTCTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.275+15756_275+15757insTTTTCTTTATTTTTTTTTTTTTTTTTTTTTTTTT) n.44+22437_44+22438insTTTTCTTTATTTTTTTTTTTTTTTTTTTTTTTTT n.2769_2770insAAAAAAATAAAGAAAAAAAAAAAAAAAAAAAAAA | gnomAD v3 gnomAD v4 |
| 13 | g.52034899_52034900insTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA956030868 | ALG11,NEK5 | c.*2066_*2067insAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAA (n.*2066_*2067insAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAA) c.275+15756_275+15757insTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.275+15756_275+15757insTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.44+22437_44+22438insTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.2769_2770insAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAA | gnomAD v3 gnomAD v4 |
| 13 | g.52034899_52034900insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA956030839 | ALG11,NEK5 | c.*2066_*2067insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*2066_*2067insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.275+15756_275+15757insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.275+15756_275+15757insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.44+22437_44+22438insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.2769_2770insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | gnomAD v3 gnomAD v4 |
| 13 | g.52034899_52034900insTTCCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA956030968 | ALG11,NEK5 | c.*2066_*2067insAAAAAAAAAAAGAGGAAAAAAAAAAAAAAAAAAAA (n.*2066_*2067insAAAAAAAAAAAGAGGAAAAAAAAAAAAAAAAAAAA) c.275+15756_275+15757insTTCCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.275+15756_275+15757insTTCCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.44+22437_44+22438insTTCCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.2769_2770insAAAAAAAAAAAGAGGAAAAAAAAAAAAAAAAAAAA | gnomAD v3 gnomAD v4 |
| 13 | g.52034899_52034900insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA2593284714 | ALG11,NEK5 | c.*2066_*2067insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*2066_*2067insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.275+15756_275+15757insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.275+15756_275+15757insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.44+22437_44+22438insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.2769_2770insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | gnomAD v3 gnomAD v4 |
| 13 | g.52034899_52034900insTTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA956031008 | ALG11,NEK5 | c.*2066_*2067insAAAAAAAAAAAAAAGGGAAAAAAAAAAAAAAAAAAAA (n.*2066_*2067insAAAAAAAAAAAAAAGGGAAAAAAAAAAAAAAAAAAAA) c.275+15756_275+15757insTTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.275+15756_275+15757insTTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.44+22437_44+22438insTTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.2769_2770insAAAAAAAAAAAAAAGGGAAAAAAAAAAAAAAAAAAAA | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.52034899_52034900insTTCCCTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA956030982 | ALG11,NEK5 | c.*2066_*2067insAAAAAAAAAAAAATAAAGGGAAAAAAAAAAAAAAAAAAAA (n.*2066_*2067insAAAAAAAAAAAAATAAAGGGAAAAAAAAAAAAAAAAAAAA) c.275+15756_275+15757insTTCCCTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.275+15756_275+15757insTTCCCTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.44+22437_44+22438insTTCCCTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.2769_2770insAAAAAAAAAAAAATAAAGGGAAAAAAAAAAAAAAAAAAAA | gnomAD v3 gnomAD v4 |
| 13 | g.52034899_52034900insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA956030838 | ALG11,NEK5 | c.*2066_*2067insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*2066_*2067insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.275+15756_275+15757insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.275+15756_275+15757insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.44+22437_44+22438insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.2769_2770insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | gnomAD v3 gnomAD v4 |
| 13 | g.52034899_52034900insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA956030835 | ALG11,NEK5 | c.*2066_*2067insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*2066_*2067insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.275+15756_275+15757insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.275+15756_275+15757insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.44+22437_44+22438insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.2769_2770insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | gnomAD v3 gnomAD v4 |
| 13 | g.52034899_52034900insTTCCTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA956030963 | ALG11,NEK5 | c.*2066_*2067insAAAAAAAAAAAAAAATAAAGGAAAAAAAAAAAAAAAAAAAA (n.*2066_*2067insAAAAAAAAAAAAAAATAAAGGAAAAAAAAAAAAAAAAAAAA) c.275+15756_275+15757insTTCCTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.275+15756_275+15757insTTCCTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.44+22437_44+22438insTTCCTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.2769_2770insAAAAAAAAAAAAAAATAAAGGAAAAAAAAAAAAAAAAAAAA | gnomAD v3 gnomAD v4 |
| 13 | g.52034899_52034900insTTCCCTTTATTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA2501834537 | ALG11,NEK5 | c.*2066_*2067insAAAAAAAAAAATAAATAAAGGGAAAAAAAAAAAAAAAAAAAA (n.*2066_*2067insAAAAAAAAAAATAAATAAAGGGAAAAAAAAAAAAAAAAAAAA) c.275+15756_275+15757insTTCCCTTTATTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.275+15756_275+15757insTTCCCTTTATTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.44+22437_44+22438insTTCCCTTTATTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.2769_2770insAAAAAAAAAAATAAATAAAGGGAAAAAAAAAAAAAAAAAAAA |