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 |
|---|---|---|---|---|---|
| X | g.86041956_86048370delinsCCTAAAGCCCCTCATCAGATACAATCACTTTAATATAAAGACCATTTTACCTTAATTATTTCTACGGTAGCTTATGGAAACTAATAGATTGGAAACTAAATGTAAACTAAGGAGAATCTTACATGAACTTATCTAGTTGGTGCGGAAAATCGAATTCAGACTCAACAGACGCTTATCCAGCGCAACCATGCTTTCATATATTTTTTCCCTCCTGTAAAGCAAGGCTAATTTATTGCCCGAGTGGCTGTCTGGACTAACTGGAACAAATACGGACGCGGTGGGAGTTCCATTCTGGCGAAACTAGGGTGAGAGGTTTTTTGTGGGTTTTCATCGAGGAGACATGGAAACGAAAAAGATATGGAATATATTCTGAAAGTATTGGTGTGAAAAACCATGCCTCGAGGGCCAACACGAAAGTACAGAAACGATGGCGGGAAACAGTTTTTTAGGCTGGAATGAAAGTCTCCTTTGTTCACAGAGCAAACCGCCTTCAATTTCACTCCGCTCTCCGTGTCTCCTAACAATTTTGCTTCAGTATTGTCAAGGGGTATCCAAGTCTCCCACATTCATCCTAGCTAACGGAATAAAAATCTACATTTCTTTCCTACTTCAACCCTCCAGGCTAAATGAGCTACAGCATTCAGCCTGGAAAATGAGTCGAGCTTTTAACTTACGTGTAAACATTTTAAATATAATACTGTAGTCGCCTGCCTGGACCTTCCACCCAAGAACTACAACACCCAGAATGCACTGTTTTCTTTTCCGCCTTCCACGGAGGGAATGCCTAACTTGATCTCATTTCCACAAGTAATAGTCACATGACACGTTTCCCGTCAAGATGGCGGATACTCTCCCTTCGGAGTTTGATGTGATCGTAATAGGGACGGGTATGTGTAGCCTGGTGCTTCCTGGACAAAGTTTAGGAAGACTGTCTTGTTTCTGTTTTTTCTGTCAGTGGCGAGTTTTGGGACAAACATCGTGGGTCGAGAGTGGGAGGGAGAACTGAAAGGAAGTGAGGTAGTCCGGAGTCAGCGCGGGAGTTGGCAGTTACAGGGAGGGGCTGGGACCCGCAGTGCTTATCGCCATTTGAGTAGGGGTTGATCTGGTCGATGCTGATTGCTGAGGTTGGTTGCTGCGGTGATTCCTGTTAATTTCCTTAGAGGGAAGTGGATGTGCAGTGTCATGAAATGGAGGGTCGGGATTTTATCAACGGAGACGACTTTGGCAAGACATTATGATTCCTTCCTTATTGATTTCAAGGTGATATTCCCCATCATTTTGTCTCGCCATTTCATAGGACTTTTTCATAGATTTGTATGATCTTAGCATACATCGCAGCTCAGACACAGCTTAATCCTCAGTTTTACAAGAAAGATGCTCAATTATTGCCCATGTGCGTATGAATTTACTAGGGAAAGTAAACGGATTCTATTTTGTTGAGAAACCTAGGGAATTTTATTTTGTTGAGGTAGCCATTATTCCTGCTTTATGGTGCTTAAAGCATCTTGCTTTCTACCATCAATAACTAAATGTGCTGAGAATAAGGTCCTGAGTTCCAGTTCAGGTGTGTGACCTTATCTAACTCTTGTTTTCCCGTCGTTTGTTCTTCATGTTTTGGGTGGAACCAGAAACTCCTCTGCAGTTTCTAGTTGACATATTCAGTGTACAACACGTAGCAGAACACATATGGCAGCAATTTCAATTTTTTTTAATAGTGTAAGGGATGATCATTTTAGATGGAATGAAATAGGTTGTTTGATGGGGTTTTTTACTGTTTGTAGAATGTGGTAGGCCAGAGAAGCTCTGGTGGATGGGACCCTGTCCATTGTGTTAATGAATTCAGTTCGTTGTCTTCTCATACAGCCATGATTAGGAGCAGCCATGTTTTCAGGTTGGGAGTAAAAATAATAGCTACCTGTTTTCGAATGCTTAAAATTTCCTAATCACTGTGCTAAGCACTTTACAAGCCGAACATAATCCTCACAACCTTGTTAGAGTAGTAGGTACTCTCTGCATTTTGTAGAAGAGGAAAAGGGGACTTGGAAAAGTTGTAATTTGCTCAGGATCACACAGCTGGTAAATTTCCAAAGGCCCATTCCATCCCAGGAAAACAGTCAGTGGTTCTGATCCTCAGAGTTGACCCATATTCGTAGAAACAATTGAGAAAACTTGGTTTTAGGTCTTGCTTAGTGCTAGTATGAATTGCTTGAATTGGGAGGGCCAGGCACTAAATCTCTCTGAGCCTCAGTTTCCTTGTTTTTGAATATAAGGAAGGTAAAATAGATGGTCTTTATGTTGTCTAACAAAAAATGCCTGGGTAACAGTTCTCAGAACAGCATGGACAGGTTTATTCTTAGCCTGAAAATAACTGCATGGCTGCAAATAACCTGGTTGTAGCTGCTATGAACAGATGTTGGATGAGAGCTGGAAAGAGCCAATGGACTATTCATTTTTTCTTTTAAGTCTATACTAAAACTGAGAACAGCATCCATTTTGGAATAGTTGTTATACCATACTTGAGTTTTATAATCTTGCTTTTTTTGTGTAGGAACTTGAGGTGTTTTTAACAATTTTTTTAATCAACAATTTTTTTTTTCAGGTCTGGGTTCAAATTTTAATTGATGAATGTTAATTCTTATGAATGATGCTAATGTTTTTCATAAATATTTTGCCTTCTGTACAGTTCAGAATTGGAAGACATCCATCCTGATGGAGTCTGTTATGGTAGAGGTAGGAAGTTACAGTGAGTGAGCCAGAGAATTGCATCAGGTGACATCGCTTATATTTGGAAAAATACTCATTTTATACTTATCCCAGTGAGTGCAATGTTATTTTTCAGTGTTTGGGAAGAACTTATTTGAAGTTAATCTTAAAACTTAAATTTTTCATATTGTTTATTGGTGACACATTCTAGGTTTTATCAAGCACATTGCTTAAATTTATGATATGTAATTTTGCTTTTAGGTACATCAAAAGTGTAAAAATTGAATAAAAGAGTCATTCCCCAAATAAATGATTCCAACAATTCCAATCATGATTTAATTTGATTTATTTTTTAGTGTGCTTGGGATATTTCTCTTGTGAAATAGTTTGCTGAAAGTAGCCTTTAAAATGTTTGCTTTATTAAATGTATTACATTGAGCAAATCATAGAAAAAGCAGTGTTTCATAGATTCAGTTGTATTAATAAAAGTAGAAGCAATAATGCATGCATCAGAAACATGAAGAAATAGGCTATTAGATATACTTTTTAGCAGATTTAGTCCTAGTTAAAATGTCATAAAGGAACAATTGCTTCATCAAGTATAATCATGGAAGATAATATTTTATAATCCCTTTCACCTTGATTAACTTGCATTATCATTTTCTGTAATGCAAGATGGAAATTGTTCCTTAAGATCATATTTTCGAGAGATTATGGAAAAAAATAAACTTTGTATTTTCTTAGTTAAGCCCATTTCCTTCTGATTAGAAAATACAGTAAATATCTCTTGAACATCCAAAGACAGAAGAGTAAGCTAAAGTGGAATTGCGGAAAAAATAGAAGAAAATGGAATAAAGAAGGAGGGCCAACTGGAGTCTCAAGGGAGAGGATAAAAATAGATATATGTGGTAAGGGTCTAGAAGGTGCTCTTCAGCTTGGGTACAGAATTGTCATTTTCAGGGTATTTTGCCATTTAAAAAGTCATTTAAATGACAGTTTTGTGGATTATAGACAAGTACCATTGGTTGAACGTTAAAAGTCGTCCCAGTAACATTACATCTCACTGGAGGTGACTTATCTGGAAGCCTGTGTAATCTGCAGCACAGCAGAGCCAAGAACTCAACAGAAGAGCAGTCAAGATGGAAGTTATAAGATCTATATGATAATATTGACATGCTTCATACATAGGGGAATCCCTGAGATCATCACTTAGAACATATTCATCCTCATTTTAAAAATAATTCTAGCAAGCTCAGCATATTAGAACCACCCCCTTAGAAGATACAAGGAATGTTATCAACTTCTGCAAAGACTATGTTTGGTGGGGTTGCTATTAGACATACAAATGACAGTTTGTATAGGAAAGGGAAGAGAAAAACACCTAAAATGCAAACTTACATCAAACATCACAAAGGCCTGATAACATTTAGTGTAGTGACAAATACTCATTTTTCAGGTCATTCAACCCACATTTACTGAGAACCTAGTCCCTTCCCTTGTGAAGTTTACTGTATTGCCTATTCTCAGGAACGTTCTGGCCTTCCTAACAGTCATATCCCCAAAGCTGTTCTTAAGACAATGTAGGCTTTTCATTGCATCCTTCTTTCTTTTTGAAGACCATGTAGACATTCAGCCTGCATTTTTTCTTTTTAAAAGCACACTGCTCACATCTTTTGGAGTTCTTCCCCTAAGATGGGCTGCAGAGTAGGTTAGCTTAATTTTTCTACTGCATAGGATAAACACATATATTCTTTTGATTTAAGAGTTTTATTGTTAGCCAAGCATGGTGGCACGGGCCTGTAATCCCCATTACTCTATAGGCTAAGGCACAGGCATCCCTTGATCCTGGAAGGCGGAGGTTGCAGTGAGCTTAGATGGCACCACTGCACTCTAGTCAGAGAAACAGAGTGAGACTGTCTCAAAAAAAAAAAAAAGTTTCATTGGCCAGGTGCAGTGGCTCAGGCCTGTAATCCCAGCACTTGGGGAAGCCGAGGCAGGTGGATTGCTTGAGCTCAGGAGTTTGAAACCTCAGCCTCCCAAGTAGCTGAAATGGGTGACACAGCAAAACTGTATTTCTACAAAAAAAATACAAAAATTAATTGGGTATGGTGACACGTGCCTGTAGTCCCAGCTACTTGGAAGGCTGAGGTGGGAGGATTGCCTGAAACTGGGAGTTTGAGGCTGCAGTGAGCTATAGTTGTGTCACTGCACTTCAGCCTGGGCAACAGAGCAAGACCCTATCTCAAAAAAAAAAAAAAGTTTTATTGCTAAAGATTATGGGGAAAGAGAAGGGATAGCAAAGATAAACATGGAAATTATAAGGAGTACTGCCCCTAAATCCTGATTATCTTGCTAGATAGTGTTTAGCACCATACAGTAGTAGATGTGGCAGCATGGTGTATGATAATCACATGACCATCCTATTGTGTGATTTTGGGAAAATTACAGAATTTCTTGTGACATCATTTAGTTCATCTGTAAAGTGAGAAATTTCAATAGATGATCTCCAAGGTAGGGATCTACCAGCCCTAAAATTACCATTGTATATATCTATTTATGACACCATGTCCTTGAGAAAAGGCTAAATTCTGTTCTGTGTAGTCTTTTTAAGAAGGAAAGTCAGTGTTTCATATACTTCAGAAATTTTCCTATAAAAATGGCTGATAGGGTTTAGATATTTGTCCTGCCCAAATCTCATGTTGAAATGTTATCCTCGTTGTCGGAGGTGGGGCCTGATGGGATGTGTTTGGGTCATGGGAGTGGATCCCTCATGGCTTGGTACTCTTCTTGTAATAGTGAATTCGTTCTTGCAGGATCTGGTGGTTTATTTTTTAATTTTTTTTTTGAGACAGGGTCTTGCTCTGTCACCCTAGTTGGAGTGCAGTGGCACAATCATGGCCCACTGCAGCCTTAACCTCCTGGGCCCAAGCAATCCTCCCACCTCAGACTCCTGAGTAGCTGAGATTACAGACATGCATCACCATGCCTGGCTAATTTTTTTTTTTTTATTTTTGTAGAGATGGGGTCTGCCTATGTTGCCCAGGCTGGTTTTGCACTTCTGAACTCAAGCAATCTACCTGCCTTGGTGGCCCAAATTGCTGGGATTACAGATGGGAGCCACTGTGCCTGGTCGACTGGTTGTTTAAAAGTGTGTGGCATCTCCCCACACTTGCTTGCCTTGCCTCTCACCAAGGGAGATGCCTGCTTCCCCTTTGCCTTCTGCTATGACTAAAAGCTCCCTCAGGCCTCCCTAGAAGCCGAGCAGATGCCTGTACCATGCTTGTACAGCCTGCAGAACCCTGAGCCAATTAAACCTCTTTTCTTTATAAATTACCCAGTTTCAGGCATTCCTTTATGGCAACACAGGAACAGCCTAATACAGTGACTGATTAGAAAAGGCATTTTCTTAAAAATGATAGGCTGCTTTTTTCAGAAAAGGTCACTTAAGTAGCCTTTCCTTGATGTTGGGATGTTCCAGTCCCATTCCTTGATGTTGGTGAATTTAAACATTAAGGTAGTTAACCTTGACTGGCAGCTCATTGACTTATGATGATGTTGGAATAGCATCACTTCTGTAAGCCTTGGGGGATAGTAATATTGCAGGAGGAGTTGTGAAAACTGATATTTACCAAATATCTGTTTGTGCCAGCCTTAACACAAGTGATTTCCTATATTTCTAACTTAATCTTCTCCCAGGATGCCTGAATGTGGT | CA915951258 | ClinVar | ||
| X | g.86047402C>A | CA2694206288 | CHM | c.49+82G>T (n.49+82G>T) n.78+82G>T c.-392+82G>T (n.-392+82G>T) | gnomAD v4 |
| X | g.86047404del | CA2694206287 | CHM | c.49+82del (n.49+82del) n.78+82del c.-392+82del (n.-392+82del) | gnomAD v4 |
| X | g.86047404C>A | CA2694206289 | CHM | c.49+80G>T (n.49+80G>T) n.78+80G>T c.-392+80G>T (n.-392+80G>T) | gnomAD v4 |
| X | g.86047405A>G | CA2694206290 | CHM | c.49+79T>C (n.49+79T>C) n.78+79T>C c.-392+79T>C (n.-392+79T>C) | gnomAD v4 |
| X | g.86047406A>G | CA2694206291 | CHM | c.49+78T>C (n.49+78T>C) n.78+78T>C c.-392+78T>C (n.-392+78T>C) | gnomAD v4 |
| X | g.86047408A= | CA2442509572 | CHM | c.49+76T= (n.49+76T=) n.78+76T= c.-392+76T= (n.-392+76T=) | |
| X | g.86047408A>G | CA332667689 | CHM | c.49+76T>C (n.49+76T>C) n.78+76T>C c.-392+76T>C (n.-392+76T>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.86047410T>A | CA2442509574 | CHM | c.49+74A>T (n.49+74A>T) n.78+74A>T c.-392+74A>T (n.-392+74A>T) | dbSNP |
| X | g.86047410T= | CA2442509573 | CHM | c.49+74A= (n.49+74A=) n.78+74A= c.-392+74A= (n.-392+74A=) | |
| X | g.86047411C>A | CA643004317 | CHM | c.49+73G>T (n.49+73G>T) n.78+73G>T c.-392+73G>T (n.-392+73G>T) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.86047411C= | CA2442509575 | CHM | c.49+73G= (n.49+73G=) n.78+73G= c.-392+73G= (n.-392+73G=) | |
| X | g.86047411C>G | CA332667691 | CHM | c.49+73G>C (n.49+73G>C) n.78+73G>C c.-392+73G>C (n.-392+73G>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.86047411C>T | CA2579656299 | CHM | c.49+73G>A (n.49+73G>A) n.78+73G>A c.-392+73G>A (n.-392+73G>A) | gnomAD v4 |
| X | g.86047412G>A | CA2579656300 | CHM | c.49+72C>T (n.49+72C>T) n.78+72C>T c.-392+72C>T (n.-392+72C>T) | gnomAD v4 |
| X | g.86047412G>T | CA2694206292 | CHM | c.49+72C>A (n.49+72C>A) n.78+72C>A c.-392+72C>A (n.-392+72C>A) | gnomAD v4 |
| X | g.86047413C>A | CA2694206293 | CHM | c.49+71G>T (n.49+71G>T) n.78+71G>T c.-392+71G>T (n.-392+71G>T) | gnomAD v4 |
| X | g.86047413C>T | CA2579656301 | CHM | c.49+71G>A (n.49+71G>A) n.78+71G>A c.-392+71G>A (n.-392+71G>A) | |
| X | g.86047414C>T | CA2694206294 | CHM | c.49+70G>A (n.49+70G>A) n.78+70G>A c.-392+70G>A (n.-392+70G>A) | gnomAD v4 |
| X | g.86047415A>T | CA2694206295 | CHM | c.49+69T>A (n.49+69T>A) n.78+69T>A c.-392+69T>A (n.-392+69T>A) | gnomAD v4 |
| X | g.86047416C>A | CA2694206296 | CHM | c.49+68G>T (n.49+68G>T) n.78+68G>T c.-392+68G>T (n.-392+68G>T) | gnomAD v4 |
| X | g.86047416C>T | CA2579656302 | CHM | c.49+68G>A (n.49+68G>A) n.78+68G>A c.-392+68G>A (n.-392+68G>A) | |
| X | g.86047418G>A | CA2694206297 | CHM | c.49+66C>T (n.49+66C>T) n.78+66C>T c.-392+66C>T (n.-392+66C>T) | gnomAD v4 |
| X | g.86047418G>T | CA2694206298 | CHM | c.49+66C>A (n.49+66C>A) n.78+66C>A c.-392+66C>A (n.-392+66C>A) | gnomAD v4 |
| X | g.86047420C>A | CA2694206299 | CHM | c.49+64G>T (n.49+64G>T) n.78+64G>T c.-392+64G>T (n.-392+64G>T) | gnomAD v4 |
| X | g.86047420C= | CA2442509576 | CHM | c.49+64G= (n.49+64G=) n.78+64G= c.-392+64G= (n.-392+64G=) | |
| X | g.86047420C>T | CA879161516 | CHM | c.49+64G>A (n.49+64G>A) n.78+64G>A c.-392+64G>A (n.-392+64G>A) | dbSNP gnomAD v4 |
| X | g.86047421A>G | CA2694206300 | CHM | c.49+63T>C (n.49+63T>C) n.78+63T>C c.-392+63T>C (n.-392+63T>C) | gnomAD v4 |
| X | g.86047422G>C | CA2694206301 | CHM | c.49+62C>G (n.49+62C>G) n.78+62C>G c.-392+62C>G (n.-392+62C>G) | gnomAD v4 |
| X | g.86047422G= | CA2442509577 | CHM | c.49+62C= (n.49+62C=) n.78+62C= c.-392+62C= (n.-392+62C=) | |
| X | g.86047422G>T | CA2694206302 | CHM | c.49+62C>A (n.49+62C>A) n.78+62C>A c.-392+62C>A (n.-392+62C>A) | gnomAD v4 |
| X | g.86047423A= | CA2442509578 | CHM | c.49+61T= (n.49+61T=) n.78+61T= c.-392+61T= (n.-392+61T=) | |
| X | g.86047423A>T | CA332667693 | CHM | c.49+61T>A (n.49+61T>A) n.78+61T>A c.-392+61T>A (n.-392+61T>A) | dbSNP |
| X | g.86047428dup | CA332667695 | CHM | c.49+61dup (n.49+61dup) n.78+61dup c.-392+61dup (n.-392+61dup) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| X | g.86047429C>A | CA2694206303 | CHM | c.49+55G>T (n.49+55G>T) n.78+55G>T c.-392+55G>T (n.-392+55G>T) | gnomAD v4 |
| X | g.86047431G>A | CA2694206304 | CHM | c.49+53C>T (n.49+53C>T) n.78+53C>T c.-392+53C>T (n.-392+53C>T) | gnomAD v4 |
| X | g.86047431G>T | CA2579656303 | CHM | c.49+53C>A (n.49+53C>A) n.78+53C>A c.-392+53C>A (n.-392+53C>A) | |
| X | g.86047435C>A | CA2694206305 | CHM | c.49+49G>T (n.49+49G>T) n.78+49G>T c.-392+49G>T (n.-392+49G>T) | gnomAD v4 |
| X | g.86047435C>T | CA2694206306 | CHM | c.49+49G>A (n.49+49G>A) n.78+49G>A c.-392+49G>A (n.-392+49G>A) | gnomAD v4 |
| X | g.86047438G>T | CA2694206307 | CHM | c.49+46C>A (n.49+46C>A) n.78+46C>A c.-392+46C>A (n.-392+46C>A) | gnomAD v4 |
| X | g.86047440C>A | CA2694206308 | CHM | c.49+44G>T (n.49+44G>T) n.78+44G>T c.-392+44G>T (n.-392+44G>T) | gnomAD v4 |
| X | g.86047440C>T | CA2694206309 | CHM | c.49+44G>A (n.49+44G>A) n.78+44G>A c.-392+44G>A (n.-392+44G>A) | gnomAD v4 |
| X | g.86047441A>T | CA2694206310 | CHM | c.49+43T>A (n.49+43T>A) n.78+43T>A c.-392+43T>A (n.-392+43T>A) | gnomAD v4 |
| X | g.86047442G>T | CA2694206311 | CHM | c.49+42C>A (n.49+42C>A) n.78+42C>A c.-392+42C>A (n.-392+42C>A) | gnomAD v4 |
| X | g.86047444C>T | CA2579656304 | CHM | c.49+40G>A (n.49+40G>A) n.78+40G>A c.-392+40G>A (n.-392+40G>A) | |
| X | g.86047445T>C | CA2694206312 | CHM | c.49+39A>G (n.49+39A>G) n.78+39A>G c.-392+39A>G (n.-392+39A>G) | gnomAD v4 |
| X | g.86047446T>C | CA2694206313 | CHM | c.49+38A>G (n.49+38A>G) n.78+38A>G c.-392+38A>G (n.-392+38A>G) | gnomAD v4 |
| X | g.86047449T>C | CA2694206314 | CHM | c.49+35A>G (n.49+35A>G) n.78+35A>G c.-392+35A>G (n.-392+35A>G) | gnomAD v4 |
| X | g.86047449T>G | CA2822221444 | CHM | c.49+35A>C (n.49+35A>C) n.78+35A>C c.-392+35A>C (n.-392+35A>C) | |
| X | g.86047452del | CA2579656305 | CHM | c.49+34del (n.49+34del) n.78+34del c.-392+34del (n.-392+34del) | |
| X | g.86047451A>G | CA2694206315 | CHM | c.49+33T>C (n.49+33T>C) n.78+33T>C c.-392+33T>C (n.-392+33T>C) | gnomAD v4 |
| X | g.86047452A= | CA2442509579 | CHM | c.49+32T= (n.49+32T=) n.78+32T= c.-392+32T= (n.-392+32T=) | |
| X | g.86047452A>G | CA2442509580 | CHM | c.49+32T>C (n.49+32T>C) n.78+32T>C c.-392+32T>C (n.-392+32T>C) | dbSNP |
| X | g.86047452A>T | CA2442509581 | CHM | c.49+32T>A (n.49+32T>A) n.78+32T>A c.-392+32T>A (n.-392+32T>A) | dbSNP gnomAD v4 |
| X | g.86047455T>C | CA10465681 | CHM | c.49+29A>G (n.49+29A>G) n.78+29A>G c.-392+29A>G (n.-392+29A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.86047455T= | CA2442509582 | CHM | c.49+29A= (n.49+29A=) n.78+29A= c.-392+29A= (n.-392+29A=) | |
| X | g.86047456T>C | CA2694206316 | CHM | c.49+28A>G (n.49+28A>G) n.78+28A>G c.-392+28A>G (n.-392+28A>G) | gnomAD v4 |
| X | g.86047457G>T | CA2694206317 | CHM | c.49+27C>A (n.49+27C>A) n.78+27C>A c.-392+27C>A (n.-392+27C>A) | gnomAD v4 |
| X | g.86047458T>A | CA332667697 | CHM | c.49+26A>T (n.49+26A>T) n.78+26A>T c.-392+26A>T (n.-392+26A>T) | dbSNP |
| X | g.86047458T>C | CA2694206318 | CHM | c.49+26A>G (n.49+26A>G) n.78+26A>G c.-392+26A>G (n.-392+26A>G) | gnomAD v4 |
| X | g.86047458T= | CA2442509583 | CHM | c.49+26A= (n.49+26A=) n.78+26A= c.-392+26A= (n.-392+26A=) | |
| X | g.86047459C= | CA2442509584 | CHM | c.49+25G= (n.49+25G=) n.78+25G= c.-392+25G= (n.-392+25G=) | |
| X | g.86047459C>G | CA2442509585 | CHM | c.49+25G>C (n.49+25G>C) n.78+25G>C c.-392+25G>C (n.-392+25G>C) | dbSNP gnomAD v4 |
| X | g.86047459C>T | CA2694206320 | CHM | c.49+25G>A (n.49+25G>A) n.78+25G>A c.-392+25G>A (n.-392+25G>A) | gnomAD v4 |
| X | g.86047460del | CA2694206319 | CHM | c.49+25del (n.49+25del) n.78+25del c.-392+25del (n.-392+25del) | gnomAD v4 |
| X | g.86047461A= | CA2442509586 | CHM | c.49+23T= (n.49+23T=) n.78+23T= c.-392+23T= (n.-392+23T=) | |
| X | g.86047461A>G | CA10465682 | CHM | c.49+23T>C (n.49+23T>C) n.78+23T>C c.-392+23T>C (n.-392+23T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.86047462G>A | CA2579656306 | CHM | c.49+22C>T (n.49+22C>T) n.78+22C>T c.-392+22C>T (n.-392+22C>T) | |
| X | g.86047464A= | CA2442509587 | CHM | c.49+20T= (n.49+20T=) n.78+20T= c.-392+20T= (n.-392+20T=) | |
| X | g.86047464A>G | CA643004322 | CHM | c.49+20T>C (n.49+20T>C) n.78+20T>C c.-392+20T>C (n.-392+20T>C) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.86047465A= | CA2442509588 | CHM | c.49+19T= (n.49+19T=) n.78+19T= c.-392+19T= (n.-392+19T=) | |
| X | g.86047465A>G | CA332667699 | CHM | c.49+19T>C (n.49+19T>C) n.78+19T>C c.-392+19T>C (n.-392+19T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.86047465A>T | CA879161524 | CHM | c.49+19T>A (n.49+19T>A) n.78+19T>A c.-392+19T>A (n.-392+19T>A) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.86047466G>A | CA2694206321 | CHM | c.49+18C>T (n.49+18C>T) n.78+18C>T c.-392+18C>T (n.-392+18C>T) | gnomAD v4 |
| X | g.86047467C>T | CA2739273619 | CHM | c.49+17G>A (n.49+17G>A) n.78+17G>A c.-392+17G>A (n.-392+17G>A) | ClinVar |
| X | g.86047469C>A | CA332667701 | CHM | c.49+15G>T (n.49+15G>T) n.78+15G>T c.-392+15G>T (n.-392+15G>T) | dbSNP |
| X | g.86047469C= | CA2442509589 | CHM | c.49+15G= (n.49+15G=) n.78+15G= c.-392+15G= (n.-392+15G=) | |
| X | g.86047470C>G | CA2694206322 | CHM | c.49+14G>C (n.49+14G>C) n.78+14G>C c.-392+14G>C (n.-392+14G>C) | gnomAD v4 |
| X | g.86047471A>G | CA2694206323 | CHM | c.49+13T>C (n.49+13T>C) n.78+13T>C c.-392+13T>C (n.-392+13T>C) | gnomAD v4 |
| X | g.86047472G>A | CA2579656307 | CHM | c.49+12C>T (n.49+12C>T) n.78+12C>T c.-392+12C>T (n.-392+12C>T) | gnomAD v4 |
| X | g.86047472G>C | CA10465683 | CHM | c.49+12C>G (n.49+12C>G) n.78+12C>G c.-392+12C>G (n.-392+12C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.86047472G= | CA2442509590 | CHM | c.49+12C= (n.49+12C=) n.78+12C= c.-392+12C= (n.-392+12C=) | |
| X | g.86047473G>T | CA2694206324 | CHM | c.49+11C>A (n.49+11C>A) n.78+11C>A c.-392+11C>A (n.-392+11C>A) | gnomAD v4 |
| X | g.86047473_86047542del | CA2695235147 | CHM | c.-10_49+11del n.20_78+11del | |
| X | g.86047474C>A | CA2822221445 | CHM | c.49+10G>T (n.49+10G>T) n.78+10G>T c.-392+10G>T (n.-392+10G>T) | |
| X | g.86047474C= | CA2442509591 | CHM | c.49+10G= (n.49+10G=) n.78+10G= c.-392+10G= (n.-392+10G=) | |
| X | g.86047474C>G | CA2442509592 | CHM | c.49+10G>C (n.49+10G>C) n.78+10G>C c.-392+10G>C (n.-392+10G>C) | dbSNP gnomAD v4 |
| X | g.86047474C>T | CA643004323 | CHM | c.49+10G>A (n.49+10G>A) n.78+10G>A c.-392+10G>A (n.-392+10G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.86047474_86047481delinsAAGC | CA2695235148 | CHM | c.49+3_49+10delinsGCTT (n.49+3_49+10delinsGCTT) n.78+3_78+10delinsGCTT c.-392+3_-392+10delinsGCTT (n.-392+3_-392+10delinsGCTT) | |
| X | g.86047476A>C | CA2499226916 | CHM | c.49+8T>G (n.49+8T>G) n.78+8T>G c.-392+8T>G (n.-392+8T>G) | ClinVar dbSNP |
| X | g.86047479_86047480del | CA2579656308 | CHM | c.49+7_49+8del (n.49+7_49+8del) n.78+7_78+8del c.-392+7_-392+8del (n.-392+7_-392+8del) | |
| X | g.86047477C>A | CA2694206325 | CHM | c.49+7G>T (n.49+7G>T) n.78+7G>T c.-392+7G>T (n.-392+7G>T) | gnomAD v4 |
| X | g.86047479C>A | CA2695235150 | CHM | c.49+5G>T (n.49+5G>T) n.78+5G>T c.-392+5G>T (n.-392+5G>T) | |
| X | g.86047479C= | CA2442509593 | CHM | c.49+5G= (n.49+5G=) n.78+5G= c.-392+5G= (n.-392+5G=) | |
| X | g.86047479C>G | CA2695235149 | CHM | c.49+5G>C (n.49+5G>C) n.78+5G>C c.-392+5G>C (n.-392+5G>C) | |
| X | g.86047479C>T | CA16608998 | CHM | c.49+5G>A (n.49+5G>A) n.78+5G>A c.-392+5G>A (n.-392+5G>A) | ClinVar dbSNP gnomAD v4 |
| X | g.86047480A= | CA2442509594 | CHM | c.49+4T= (n.49+4T=) n.78+4T= c.-392+4T= (n.-392+4T=) | |
| X | g.86047480A>G | CA643004324 | CHM | c.49+4T>C (n.49+4T>C) n.78+4T>C c.-392+4T>C (n.-392+4T>C) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.86047481T>C | CA2499226917 | CHM | c.49+3A>G (n.49+3A>G) n.78+3A>G c.-392+3A>G (n.-392+3A>G) | ClinVar dbSNP |
| X | g.86047481T>G | CA2522979358 | CHM | c.49+3A>C (n.49+3A>C) n.78+3A>C c.-392+3A>C (n.-392+3A>C) | |
| X | g.86047482A= | CA2442509595 | CHM | c.49+2T= (n.49+2T=) n.78+2T= c.-392+2T= (n.-392+2T=) | |
| X | g.86047482A>C | CA413788627 | CHM | c.49+2T>G (n.49+2T>G) n.78+2T>G c.-392+2T>G (n.-392+2T>G) | |
| X | g.86047482A>G | CA413788626 | CHM | c.49+2T>C (n.49+2T>C) n.78+2T>C c.-392+2T>C (n.-392+2T>C) | ClinVar dbSNP |
| X | g.86047482A>T | CA413788628 | CHM | c.49+2T>A (n.49+2T>A) n.78+2T>A c.-392+2T>A (n.-392+2T>A) | |
| X | g.86047482dup | CA2580102042 | CHM | c.49+2dup (n.49+2dup) n.78+2dup c.-392+2dup (n.-392+2dup) | ClinVar gnomAD v4 |
| X | g.86047483C>A | CA10603699 | CHM | c.49+1G>T (n.49+1G>T) n.78+1G>T c.-392+1G>T (n.-392+1G>T) | ClinVar dbSNP |
| X | g.86047483C= | CA2442509596 | CHM | c.49+1G= (n.49+1G=) n.78+1G= c.-392+1G= (n.-392+1G=) | |
| X | g.86047483C>G | CA413788630 | CHM | c.49+1G>C (n.49+1G>C) n.78+1G>C c.-392+1G>C (n.-392+1G>C) | ClinVar |
| X | g.86047483C>T | CA413788629 | CHM | c.49+1G>A (n.49+1G>A) n.78+1G>A c.-392+1G>A (n.-392+1G>A) | ClinVar |
| X | g.86047484C>A | CA413788631 | CHM | c.49G>T (p.Gly17Cys) n.78G>T c.-392G>T (n.-392G>T) | |
| X | g.86047484C>G | CA413788633 | CHM | c.49G>C (p.Gly17Arg) n.78G>C c.-392G>C (n.-392G>C) | |
| X | g.86047484C>T | CA413788632 | CHM | c.49G>A (p.Gly17Ser) n.78G>A c.-392G>A (n.-392G>A) | |
| X | g.86047486_86047489dup | CA2580102043 | CHM | c.46_49dup (p.Gly17AspfsTer5) n.75_78dup c.-395_-392dup (n.-395_-392dup) | ClinVar |
| X | g.86047484_86047491delinsCCGTCCCT | CA2442509597 | CHM | c.42_49delinsAGGGACGG (p.Ile14=) n.71_78delinsAGGGACGG c.-399_-392delinsAGGGACGG (n.-399_-392delinsAGGGACGG) | |
| X | g.86047485C>A | CA517494536 | CHM | c.48G>T (p.Thr16=) n.77G>T c.-393G>T (n.-393G>T) | |
| X | g.86047485C>G | CA517494537 | CHM | c.48G>C (p.Thr16=) n.77G>C c.-393G>C (n.-393G>C) | |
| X | g.86047485C>T | CA517494538 | CHM | c.48G>A (p.Thr16=) n.77G>A c.-393G>A (n.-393G>A) | gnomAD v4 |
| X | g.86047485_86047491del | CA2442509599 | CHM | c.42_48del (p.Ile14MetfsTer?) n.71_77del c.-399_-393del (n.-399_-393del) | dbSNP |
| X | g.86047485_86047491delinsCGTCCCT | CA2442509598 | CHM | c.42_48delinsAGGGACG (p.Ile14=) n.71_77delinsAGGGACG c.-399_-393delinsAGGGACG (n.-399_-393delinsAGGGACG) | |
| X | g.86047486G>A | CA332667705 | CHM | c.47C>T (p.Thr16Met) n.76C>T c.-394C>T (n.-394C>T) | ClinVar dbSNP gnomAD v4 |
| X | g.86047486G>C | CA413788634 | CHM | c.47C>G (p.Thr16Arg) n.76C>G c.-394C>G (n.-394C>G) | |
| X | g.86047486G= | CA2442509600 | CHM | c.47C= (p.Thr16=) n.76C= c.-394C= (n.-394C=) | |
| X | g.86047486G>T | CA413788635 | CHM | c.47C>A (p.Thr16Lys) n.76C>A c.-394C>A (n.-394C>A) | COSMIC |
| X | g.86047486_86047491delinsTTCCC | CA915951259 | CHM | c.42_47delinsGGGAA (p.Ile14MetfsTer?) n.71_76delinsGGGAA c.-399_-394delinsGGGAA (n.-399_-394delinsGGGAA) | ClinVar dbSNP |
| X | g.86047487T>A | CA413788636 | CHM | c.46A>T (p.Thr16Ser) n.75A>T c.-395A>T (n.-395A>T) | |
| X | g.86047487T>C | CA413788637 | CHM | c.46A>G (p.Thr16Ala) n.75A>G c.-395A>G (n.-395A>G) | |
| X | g.86047487T>G | CA413788638 | CHM | c.46A>C (p.Thr16Pro) n.75A>C c.-395A>C (n.-395A>C) | |
| X | g.86047488C>A | CA517494539 | CHM | c.45G>T (p.Gly15=) n.74G>T c.-396G>T (n.-396G>T) | |
| X | g.86047488C>G | CA517494540 | CHM | c.45G>C (p.Gly15=) n.74G>C c.-396G>C (n.-396G>C) | |
| X | g.86047488C>T | CA517494541 | CHM | c.45G>A (p.Gly15=) n.74G>A c.-396G>A (n.-396G>A) | |
| X | g.86047489C>A | CA413788639 | CHM | c.44G>T (p.Gly15Val) n.73G>T c.-397G>T (n.-397G>T) | |
| X | g.86047489C>G | CA413788640 | CHM | c.44G>C (p.Gly15Ala) n.73G>C c.-397G>C (n.-397G>C) | |
| X | g.86047489C>T | CA413788641 | CHM | c.44G>A (p.Gly15Glu) n.73G>A c.-397G>A (n.-397G>A) | COSMIC |
| X | g.86047490C>A | CA413788642 | CHM | c.43G>T (p.Gly15Trp) n.72G>T c.-398G>T (n.-398G>T) | |
| X | g.86047490C>G | CA413788643 | CHM | c.43G>C (p.Gly15Arg) n.72G>C c.-398G>C (n.-398G>C) | |
| X | g.86047490C>T | CA413788644 | CHM | c.43G>A (p.Gly15Arg) n.72G>A c.-398G>A (n.-398G>A) | |
| X | g.86047491T>A | CA517494542 | CHM | c.42A>T (p.Ile14=) n.71A>T c.-399A>T (n.-399A>T) | gnomAD v4 |
| X | g.86047491T>C | CA413788645 | CHM | c.42A>G (p.Ile14Met) n.71A>G c.-399A>G (n.-399A>G) | |
| X | g.86047491T>G | CA517494543 | CHM | c.42A>C (p.Ile14=) n.71A>C c.-399A>C (n.-399A>C) | |
| X | g.86047491T= | CA2442509601 | CHM | c.42A= (p.Ile14=) n.71A= c.-399A= (n.-399A=) | |
| X | g.86047492A>C | CA413788646 | CHM | c.41T>G (p.Ile14Arg) n.70T>G c.-400T>G (n.-400T>G) | |
| X | g.86047492A>G | CA413788647 | CHM | c.41T>C (p.Ile14Thr) n.70T>C c.-400T>C (n.-400T>C) | |
| X | g.86047492A>T | CA413788648 | CHM | c.41T>A (p.Ile14Lys) n.70T>A c.-400T>A (n.-400T>A) | |
| X | g.86047492dup | CA16621519 | CHM | c.41dup (p.Gly15ArgfsTer6) n.70dup c.-400dup (n.-400dup) | ClinVar dbSNP |
| X | g.86047493T>A | CA413788649 | CHM | c.40A>T (p.Ile14Leu) n.69A>T c.-401A>T (n.-401A>T) | |
| X | g.86047493T>C | CA413788650 | CHM | c.40A>G (p.Ile14Val) n.69A>G c.-401A>G (n.-401A>G) | dbSNP gnomAD v4 |
| X | g.86047493T>G | CA413788651 | CHM | c.40A>C (p.Ile14Leu) n.69A>C c.-401A>C (n.-401A>C) | |
| X | g.86047493T= | CA2442509602 | CHM | c.40A= (p.Ile14=) n.69A= c.-401A= (n.-401A=) | |
| X | g.86047494T>A | CA517494546 | CHM | c.39A>T (p.Val13=) n.68A>T c.-402A>T (n.-402A>T) | |
| X | g.86047494T>C | CA517494545 | CHM | c.39A>G (p.Val13=) n.68A>G c.-402A>G (n.-402A>G) | |
| X | g.86047494T>G | CA517494544 | CHM | c.39A>C (p.Val13=) n.68A>C c.-402A>C (n.-402A>C) | ClinVar dbSNP gnomAD v4 |
| X | g.86047494T= | CA2442509603 | CHM | c.39A= (p.Val13=) n.68A= c.-402A= (n.-402A=) | |
| X | g.86047495A= | CA2442509604 | CHM | c.38T= (p.Val13=) n.67T= c.-403T= (n.-403T=) | |
| X | g.86047495A>C | CA413788652 | CHM | c.38T>G (p.Val13Gly) n.67T>G c.-403T>G (n.-403T>G) | |
| X | g.86047495A>G | CA10465684 | CHM | c.38T>C (p.Val13Ala) n.67T>C c.-403T>C (n.-403T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.86047495A>T | CA413788653 | CHM | c.38T>A (p.Val13Glu) n.67T>A c.-403T>A (n.-403T>A) | |
| X | g.86047495_86047496delinsAC | CA2442509605 | CHM | c.37_38delinsGT (p.Val13=) n.66_67delinsGT c.-404_-403delinsGT (n.-404_-403delinsGT) | |
| X | g.86047496del | CA916082506 | CHM | c.37del (p.Val13Ter) n.66del c.-404del (n.-404del) | ClinVar dbSNP |
| X | g.86047496C>A | CA413788654 | CHM | c.37G>T (p.Val13Leu) n.66G>T c.-404G>T (n.-404G>T) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.86047496C= | CA2442509606 | CHM | c.37G= (p.Val13=) n.66G= c.-404G= (n.-404G=) | |
| X | g.86047496C>G | CA10465685 | CHM | c.37G>C (p.Val13Leu) n.66G>C c.-404G>C (n.-404G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.86047496C>T | CA413788655 | CHM | c.37G>A (p.Val13Ile) n.66G>A c.-404G>A (n.-404G>A) | |
| X | g.86047497del | CA2695235151 | CHM | c.36del (p.Ile12MetfsTer2) n.65del c.-405del (n.-405del) | |
| X | g.86047497G>A | CA517494547 | CHM | c.36C>T (p.Ile12=) n.65C>T c.-405C>T (n.-405C>T) | dbSNP gnomAD v4 |
| X | g.86047497G>C | CA413788656 | CHM | c.36C>G (p.Ile12Met) n.65C>G c.-405C>G (n.-405C>G) | |
| X | g.86047497G= | CA2442509607 | CHM | c.36C= (p.Ile12=) n.65C= c.-405C= (n.-405C=) | |
| X | g.86047497G>T | CA517494548 | CHM | c.36C>A (p.Ile12=) n.65C>A c.-405C>A (n.-405C>A) | |
| X | g.86047498A>C | CA413788659 | CHM | c.35T>G (p.Ile12Ser) n.64T>G c.-406T>G (n.-406T>G) | |
| X | g.86047498A>G | CA413788657 | CHM | c.35T>C (p.Ile12Thr) n.64T>C c.-406T>C (n.-406T>C) | |
| X | g.86047498A>T | CA413788658 | CHM | c.35T>A (p.Ile12Asn) n.64T>A c.-406T>A (n.-406T>A) | |
| X | g.86047499T>A | CA413788660 | CHM | c.34A>T (p.Ile12Phe) n.63A>T c.-407A>T (n.-407A>T) | |
| X | g.86047499T>C | CA413788661 | CHM | c.34A>G (p.Ile12Val) n.63A>G c.-407A>G (n.-407A>G) | dbSNP |
| X | g.86047499T>G | CA413788662 | CHM | c.34A>C (p.Ile12Leu) n.63A>C c.-407A>C (n.-407A>C) | |
| X | g.86047499T= | CA2442509608 | CHM | c.34A= (p.Ile12=) n.63A= c.-407A= (n.-407A=) | |
| X | g.86047500C>A | CA517494549 | CHM | c.33G>T (p.Val11=) n.62G>T c.-408G>T (n.-408G>T) | |
| X | g.86047500C>G | CA517494551 | CHM | c.33G>C (p.Val11=) n.62G>C c.-408G>C (n.-408G>C) | |
| X | g.86047500C>T | CA517494550 | CHM | c.33G>A (p.Val11=) n.62G>A c.-408G>A (n.-408G>A) | |
| X | g.86047501A= | CA2442509609 | CHM | c.32T= (p.Val11=) n.61T= c.-409T= (n.-409T=) | |
| X | g.86047501A>C | CA413788663 | CHM | c.32T>G (p.Val11Gly) n.61T>G c.-409T>G (n.-409T>G) | |
| X | g.86047501A>G | CA413788664 | CHM | c.32T>C (p.Val11Ala) n.61T>C c.-409T>C (n.-409T>C) | |
| X | g.86047501A>T | CA10465686 | CHM | c.32T>A (p.Val11Glu) n.61T>A c.-409T>A (n.-409T>A) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| X | g.86047502C>A | CA413788665 | CHM | c.31G>T (p.Val11Leu) n.60G>T c.-410G>T (n.-410G>T) | |
| X | g.86047502C>G | CA413788666 | CHM | c.31G>C (p.Val11Leu) n.60G>C c.-410G>C (n.-410G>C) | COSMIC |
| X | g.86047502C>T | CA413788667 | CHM | c.31G>A (p.Val11Met) n.60G>A c.-410G>A (n.-410G>A) | |
| X | g.86047502_86047504delinsCAT | CA2442509610 | CHM | c.29_31delinsATG (p.Asp10=) n.58_60delinsATG c.-412_-410delinsATG (n.-412_-410delinsATG) |