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 |
|---|---|---|---|---|---|
| 17 | g.27801500A= | CA2254022635 | NOS2 | c.439-2618T= (n.439-2618T=) c.-73-2618T= (n.-73-2618T=) | |
| 17 | g.27801500A>C | CA289077524 | NOS2 | c.439-2618T>G (n.439-2618T>G) c.-73-2618T>G (n.-73-2618T>G) | dbSNP |
| 17 | g.27801500A>G | CA2254022636 | NOS2 | c.439-2618T>C (n.439-2618T>C) c.-73-2618T>C (n.-73-2618T>C) | dbSNP |
| 17 | g.27801502G>A | CA982708884 | NOS2 | c.439-2620C>T (n.439-2620C>T) c.-73-2620C>T (n.-73-2620C>T) | dbSNP |
| 17 | g.27801502G= | CA2254022637 | NOS2 | c.439-2620C= (n.439-2620C=) c.-73-2620C= (n.-73-2620C=) | |
| 17 | g.27801505A= | CA2254022638 | NOS2 | c.438+2618T= (n.438+2618T=) c.-74+2618T= (n.-74+2618T=) | |
| 17 | g.27801505A>T | CA289077540 | NOS2 | c.438+2618T>A (n.438+2618T>A) c.-74+2618T>A (n.-74+2618T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.27801508T>C | CA2809098587 | NOS2 | c.438+2615A>G (n.438+2615A>G) c.-74+2615A>G (n.-74+2615A>G) | |
| 17 | g.27801511C= | CA2254022639 | NOS2 | c.438+2612G= (n.438+2612G=) c.-74+2612G= (n.-74+2612G=) | |
| 17 | g.27801511C>T | CA2254022640 | NOS2 | c.438+2612G>A (n.438+2612G>A) c.-74+2612G>A (n.-74+2612G>A) | dbSNP |
| 17 | g.27801514C>A | CA2254022642 | NOS2 | c.438+2609G>T (n.438+2609G>T) c.-74+2609G>T (n.-74+2609G>T) | dbSNP |
| 17 | g.27801514C= | CA2254022641 | NOS2 | c.438+2609G= (n.438+2609G=) c.-74+2609G= (n.-74+2609G=) | |
| 17 | g.27801517C= | CA2254022643 | NOS2 | c.438+2606G= (n.438+2606G=) c.-74+2606G= (n.-74+2606G=) | |
| 17 | g.27801517C>G | CA727661076 | NOS2 | c.438+2606G>C (n.438+2606G>C) c.-74+2606G>C (n.-74+2606G>C) | dbSNP |
| 17 | g.27801517C>T | CA727661074 | NOS2 | c.438+2606G>A (n.438+2606G>A) c.-74+2606G>A (n.-74+2606G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.27801518A= | CA2254022644 | NOS2 | c.438+2605T= (n.438+2605T=) c.-74+2605T= (n.-74+2605T=) | |
| 17 | g.27801518A>C | CA727661083 | NOS2 | c.438+2605T>G (n.438+2605T>G) c.-74+2605T>G (n.-74+2605T>G) | dbSNP |
| 17 | g.27801519_27801520insAGTTCGAGA | CA982708886 | NOS2 | c.438+2603_438+2604insTCTCGAACT (n.438+2603_438+2604insTCTCGAACT) c.-74+2603_-74+2604insTCTCGAACT (n.-74+2603_-74+2604insTCTCGAACT) | gnomAD v3 gnomAD v4 |
| 17 | g.27801521C= | CA2254022645 | NOS2 | c.438+2602G= (n.438+2602G=) c.-74+2602G= (n.-74+2602G=) | |
| 17 | g.27801521C>T | CA625381549 | NOS2 | c.438+2602G>A (n.438+2602G>A) c.-74+2602G>A (n.-74+2602G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.27801523C= | CA2254022646 | NOS2 | c.438+2600G= (n.438+2600G=) c.-74+2600G= (n.-74+2600G=) | |
| 17 | g.27801523C>T | CA2527520343 | NOS2 | c.438+2600G>A (n.438+2600G>A) c.-74+2600G>A (n.-74+2600G>A) | |
| 17 | g.27801524T>C | CA2569453495 | NOS2 | c.438+2599A>G (n.438+2599A>G) c.-74+2599A>G (n.-74+2599A>G) | |
| 17 | g.27801524dup | CA727661085 | NOS2 | c.438+2599dup (n.438+2599dup) c.-74+2599dup (n.-74+2599dup) | dbSNP |
| 17 | g.27801525C>A | CA2809098588 | NOS2 | c.438+2598G>T (n.438+2598G>T) c.-74+2598G>T (n.-74+2598G>T) | |
| 17 | g.27801525C= | CA2254022647 | NOS2 | c.438+2598G= (n.438+2598G=) c.-74+2598G= (n.-74+2598G=) | |
| 17 | g.27801525C>G | CA2254022648 | NOS2 | c.438+2598G>C (n.438+2598G>C) c.-74+2598G>C (n.-74+2598G>C) | dbSNP |
| 17 | g.27801530T>A | CA727661087 | NOS2 | c.438+2593A>T (n.438+2593A>T) c.-74+2593A>T (n.-74+2593A>T) | dbSNP |
| 17 | g.27801530T= | CA2254022649 | NOS2 | c.438+2593A= (n.438+2593A=) c.-74+2593A= (n.-74+2593A=) | |
| 17 | g.27801531G= | CA2254022650 | NOS2 | c.438+2592C= (n.438+2592C=) c.-74+2592C= (n.-74+2592C=) | |
| 17 | g.27801531G>T | CA727661091 | NOS2 | c.438+2592C>A (n.438+2592C>A) c.-74+2592C>A (n.-74+2592C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.27801534A= | CA2254022651 | NOS2 | c.438+2589T= (n.438+2589T=) c.-74+2589T= (n.-74+2589T=) | |
| 17 | g.27801534A>G | CA2254022652 | NOS2 | c.438+2589T>C (n.438+2589T>C) c.-74+2589T>C (n.-74+2589T>C) | dbSNP |
| 17 | g.27801536G= | CA2254022653 | NOS2 | c.438+2587C= (n.438+2587C=) c.-74+2587C= (n.-74+2587C=) | |
| 17 | g.27801536G>T | CA982708888 | NOS2 | c.438+2587C>A (n.438+2587C>A) c.-74+2587C>A (n.-74+2587C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.27801544G>C | CA2254022655 | NOS2 | c.438+2579C>G (n.438+2579C>G) c.-74+2579C>G (n.-74+2579C>G) | dbSNP |
| 17 | g.27801544G= | CA2254022654 | NOS2 | c.438+2579C= (n.438+2579C=) c.-74+2579C= (n.-74+2579C=) | |
| 17 | g.27801546G= | CA2254022656 | NOS2 | c.438+2577C= (n.438+2577C=) c.-74+2577C= (n.-74+2577C=) | |
| 17 | g.27801546G>T | CA2254022657 | NOS2 | c.438+2577C>A (n.438+2577C>A) c.-74+2577C>A (n.-74+2577C>A) | dbSNP |
| 17 | g.27801549A= | CA2254022658 | NOS2 | c.438+2574T= (n.438+2574T=) c.-74+2574T= (n.-74+2574T=) | |
| 17 | g.27801549A>G | CA289077544 | NOS2 | c.438+2574T>C (n.438+2574T>C) c.-74+2574T>C (n.-74+2574T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.27801554C= | CA2254022659 | NOS2 | c.438+2569G= (n.438+2569G=) c.-74+2569G= (n.-74+2569G=) | |
| 17 | g.27801554C>T | CA2254022660 | NOS2 | c.438+2569G>A (n.438+2569G>A) c.-74+2569G>A (n.-74+2569G>A) | dbSNP |
| 17 | g.27801555C>A | CA14375587 | NOS2 | c.438+2568G>T (n.438+2568G>T) c.-74+2568G>T (n.-74+2568G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.27801555C= | CA2254022661 | NOS2 | c.438+2568G= (n.438+2568G=) c.-74+2568G= (n.-74+2568G=) | |
| 17 | g.27801555C>G | CA2581300679 | NOS2 | c.438+2568G>C (n.438+2568G>C) c.-74+2568G>C (n.-74+2568G>C) | |
| 17 | g.27801555C>T | CA2581300680 | NOS2 | c.438+2568G>A (n.438+2568G>A) c.-74+2568G>A (n.-74+2568G>A) | |
| 17 | g.27801559C= | CA2254022662 | NOS2 | c.438+2564G= (n.438+2564G=) c.-74+2564G= (n.-74+2564G=) | |
| 17 | g.27801559C>G | CA289077547 | NOS2 | c.438+2564G>C (n.438+2564G>C) c.-74+2564G>C (n.-74+2564G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.27801561C= | CA2254022663 | NOS2 | c.438+2562G= (n.438+2562G=) c.-74+2562G= (n.-74+2562G=) |