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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.4933526A>C | CA397319250 | CHRNE,GP1BA | c.922A>C (p.Thr308Pro) c.-888+816T>G (n.-888+816T>G) | |
| 17 | g.4933526A>G | CA397319252 | CHRNE,GP1BA | c.922A>G (p.Thr308Ala) c.-888+816T>C (n.-888+816T>C) | |
| 17 | g.4933526A>T | CA397319253 | CHRNE,GP1BA | c.922A>T (p.Thr308Ser) c.-888+816T>A (n.-888+816T>A) | gnomAD v4 |
| 17 | g.4933527C>A | CA397319258 | CHRNE,GP1BA | c.923C>A (p.Thr308Lys) c.-888+815G>T (n.-888+815G>T) | |
| 17 | g.4933527C>G | CA397319254 | CHRNE,GP1BA | c.923C>G (p.Thr308Arg) c.-888+815G>C (n.-888+815G>C) | |
| 17 | g.4933527C>T | CA397319256 | CHRNE,GP1BA | c.923C>T (p.Thr308Ile) c.-888+815G>A (n.-888+815G>A) | gnomAD v4 |
| 17 | g.4933528A= | CA2244625593 | CHRNE,GP1BA | c.924A= (p.Thr308=) c.-888+814T= (n.-888+814T=) | |
| 17 | g.4933528A>C | CA8314859 | CHRNE,GP1BA | c.924A>C (p.Thr308=) c.-888+814T>G (n.-888+814T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933528A>G | CA497678178 | CHRNE,GP1BA | c.924A>G (p.Thr308=) c.-888+814T>C (n.-888+814T>C) | |
| 17 | g.4933528A>T | CA497678180 | CHRNE,GP1BA | c.924A>T (p.Thr308=) c.-888+814T>A (n.-888+814T>A) | |
| 17 | g.4933529A>C | CA497678183 | CHRNE,GP1BA | c.925A>C (p.Arg309=) c.-888+813T>G (n.-888+813T>G) | |
| 17 | g.4933529A>G | CA397319260 | CHRNE,GP1BA | c.925A>G (p.Arg309Gly) c.-888+813T>C (n.-888+813T>C) | |
| 17 | g.4933529A>T | CA397319262 | CHRNE,GP1BA | c.925A>T (p.Arg309Trp) c.-888+813T>A (n.-888+813T>A) | |
| 17 | g.4933530G>A | CA397319264 | CHRNE,GP1BA | c.926G>A (p.Arg309Lys) c.-888+812C>T (n.-888+812C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4933530G>C | CA397319266 | CHRNE,GP1BA | c.926G>C (p.Arg309Thr) c.-888+812C>G (n.-888+812C>G) | |
| 17 | g.4933530G= | CA2244625594 | CHRNE,GP1BA | c.926G= (p.Arg309=) c.-888+812C= (n.-888+812C=) | |
| 17 | g.4933530G>T | CA397319267 | CHRNE,GP1BA | c.926G>T (p.Arg309Met) c.-888+812C>A (n.-888+812C>A) | |
| 17 | g.4933531G>A | CA497678184 | CHRNE,GP1BA | c.927G>A (p.Arg309=) c.-888+811C>T (n.-888+811C>T) | |
| 17 | g.4933531G>C | CA397319269 | CHRNE,GP1BA | c.927G>C (p.Arg309Ser) c.-888+811C>G (n.-888+811C>G) | |
| 17 | g.4933531G>T | CA397319271 | CHRNE,GP1BA | c.927G>T (p.Arg309Ser) c.-888+811C>A (n.-888+811C>A) | |
| 17 | g.4933532A= | CA2244625595 | CHRNE,GP1BA | c.928A= (p.Thr310=) c.-888+810T= (n.-888+810T=) | |
| 17 | g.4933532A>C | CA397319272 | CHRNE,GP1BA | c.928A>C (p.Thr310Pro) c.-888+810T>G (n.-888+810T>G) | |
| 17 | g.4933532A>G | CA397319273 | CHRNE,GP1BA | c.928A>G (p.Thr310Ala) c.-888+810T>C (n.-888+810T>C) | dbSNP |
| 17 | g.4933532A>T | CA397319275 | CHRNE,GP1BA | c.928A>T (p.Thr310Ser) c.-888+810T>A (n.-888+810T>A) | |
| 17 | g.4933533C>A | CA397319278 | CHRNE,GP1BA | c.929C>A (p.Thr310Asn) c.-888+809G>T (n.-888+809G>T) | |
| 17 | g.4933533C= | CA2244625596 | CHRNE,GP1BA | c.929C= (p.Thr310=) c.-888+809G= (n.-888+809G=) | |
| 17 | g.4933533C>G | CA397319280 | CHRNE,GP1BA | c.929C>G (p.Thr310Ser) c.-888+809G>C (n.-888+809G>C) | gnomAD v4 |
| 17 | g.4933533C>T | CA397319279 | CHRNE,GP1BA | c.929C>T (p.Thr310Ile) c.-888+809G>A (n.-888+809G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4933534T>A | CA497678195 | CHRNE,GP1BA | c.930T>A (p.Thr310=) c.-888+808A>T (n.-888+808A>T) | |
| 17 | g.4933534T>C | CA8314860 | CHRNE,GP1BA | c.930T>C (p.Thr310=) c.-888+808A>G (n.-888+808A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933534T>G | CA497678199 | CHRNE,GP1BA | c.930T>G (p.Thr310=) c.-888+808A>C (n.-888+808A>C) | |
| 17 | g.4933534T= | CA2244625597 | CHRNE,GP1BA | c.930T= (p.Thr310=) c.-888+808A= (n.-888+808A=) | |
| 17 | g.4933536_4933537del | CA2695224148 | CHRNE,GP1BA | c.932_933del (p.Val311GlyfsTer?) c.-888+807_-888+808del (n.-888+807_-888+808del) | |
| 17 | g.4933535G>A | CA397319286 | CHRNE,GP1BA | c.931G>A (p.Val311Met) c.-888+807C>T (n.-888+807C>T) | |
| 17 | g.4933535G>C | CA397319283 | CHRNE,GP1BA | c.931G>C (p.Val311Leu) c.-888+807C>G (n.-888+807C>G) | |
| 17 | g.4933535G>T | CA397319285 | CHRNE,GP1BA | c.931G>T (p.Val311Leu) c.-888+807C>A (n.-888+807C>A) | |
| 17 | g.4933536T>A | CA397319288 | CHRNE,GP1BA | c.932T>A (p.Val311Glu) c.-888+806A>T (n.-888+806A>T) | |
| 17 | g.4933536T>C | CA397319290 | CHRNE,GP1BA | c.932T>C (p.Val311Ala) c.-888+806A>G (n.-888+806A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4933536T>G | CA397319291 | CHRNE,GP1BA | c.932T>G (p.Val311Gly) c.-888+806A>C (n.-888+806A>C) | |
| 17 | g.4933536T= | CA2244625598 | CHRNE,GP1BA | c.932T= (p.Val311=) c.-888+806A= (n.-888+806A=) | |
| 17 | g.4933537G>A | CA497678208 | CHRNE,GP1BA | c.933G>A (p.Val311=) c.-888+805C>T (n.-888+805C>T) | gnomAD v4 |
| 17 | g.4933537G>C | CA497678210 | CHRNE,GP1BA | c.933G>C (p.Val311=) c.-888+805C>G (n.-888+805C>G) | |
| 17 | g.4933537G>T | CA497678213 | CHRNE,GP1BA | c.933G>T (p.Val311=) c.-888+805C>A (n.-888+805C>A) | |
| 17 | g.4933538G>A | CA397319296 | CHRNE,GP1BA | c.934G>A (p.Val312Ile) c.-888+804C>T (n.-888+804C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4933538G>C | CA397319294 | CHRNE,GP1BA | c.934G>C (p.Val312Leu) c.-888+804C>G (n.-888+804C>G) | |
| 17 | g.4933538G= | CA2244625599 | CHRNE,GP1BA | c.934G= (p.Val312=) c.-888+804C= (n.-888+804C=) | |
| 17 | g.4933538G>T | CA397319293 | CHRNE,GP1BA | c.934G>T (p.Val312Phe) c.-888+804C>A (n.-888+804C>A) | |
| 17 | g.4933539T>A | CA397319298 | CHRNE,GP1BA | c.935T>A (p.Val312Asp) c.-888+803A>T (n.-888+803A>T) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4933539T>C | CA397319299 | CHRNE,GP1BA | c.935T>C (p.Val312Ala) c.-888+803A>G (n.-888+803A>G) | dbSNP |
| 17 | g.4933539T>G | CA8314861 | CHRNE,GP1BA | c.935T>G (p.Val312Gly) c.-888+803A>C (n.-888+803A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933539T= | CA2244625600 | CHRNE,GP1BA | c.935T= (p.Val312=) c.-888+803A= (n.-888+803A=) | |
| 17 | g.4933540C>A | CA497678220 | CHRNE,GP1BA | c.936C>A (p.Val312=) c.-888+802G>T (n.-888+802G>T) | gnomAD v4 |
| 17 | g.4933540C>G | CA497678221 | CHRNE,GP1BA | c.936C>G (p.Val312=) c.-888+802G>C (n.-888+802G>C) | |
| 17 | g.4933540C>T | CA497678223 | CHRNE,GP1BA | c.936C>T (p.Val312=) c.-888+802G>A (n.-888+802G>A) | COSMIC |
| 17 | g.4933541A>C | CA397319302 | CHRNE,GP1BA | c.937A>C (p.Lys313Gln) c.-888+801T>G (n.-888+801T>G) | |
| 17 | g.4933541A>G | CA397319303 | CHRNE,GP1BA | c.937A>G (p.Lys313Glu) c.-888+801T>C (n.-888+801T>C) | |
| 17 | g.4933541A>T | CA397319305 | CHRNE,GP1BA | c.937A>T (p.Lys313Ter) c.-888+801T>A (n.-888+801T>A) | |
| 17 | g.4933542A>C | CA397319311 | CHRNE,GP1BA | c.938A>C (p.Lys313Thr) c.-888+800T>G (n.-888+800T>G) | |
| 17 | g.4933542A>G | CA397319307 | CHRNE,GP1BA | c.938A>G (p.Lys313Arg) c.-888+800T>C (n.-888+800T>C) | |
| 17 | g.4933542A>T | CA397319309 | CHRNE,GP1BA | c.938A>T (p.Lys313Met) c.-888+800T>A (n.-888+800T>A) | |
| 17 | g.4933543G>A | CA497678229 | CHRNE,GP1BA | c.939G>A (p.Lys313=) c.-888+799C>T (n.-888+799C>T) | |
| 17 | g.4933543G>C | CA397319313 | CHRNE,GP1BA | c.939G>C (p.Lys313Asn) c.-888+799C>G (n.-888+799C>G) | |
| 17 | g.4933543G>T | CA397319315 | CHRNE,GP1BA | c.939G>T (p.Lys313Asn) c.-888+799C>A (n.-888+799C>A) | |
| 17 | g.4933544T>A | CA397319316 | CHRNE,GP1BA | c.940T>A (p.Phe314Ile) c.-888+798A>T (n.-888+798A>T) | |
| 17 | g.4933544T>C | CA397319317 | CHRNE,GP1BA | c.940T>C (p.Phe314Leu) c.-888+798A>G (n.-888+798A>G) | |
| 17 | g.4933544T>G | CA397319319 | CHRNE,GP1BA | c.940T>G (p.Phe314Val) c.-888+798A>C (n.-888+798A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933544T= | CA2244625601 | CHRNE,GP1BA | c.940T= (p.Phe314=) c.-888+798A= (n.-888+798A=) | |
| 17 | g.4933545dup | CA2695224149 | CHRNE,GP1BA | c.941dup (p.Thr316HisfsTer?) c.-888+798dup (n.-888+798dup) | |
| 17 | g.4933545T>A | CA397319321 | CHRNE,GP1BA | c.941T>A (p.Phe314Tyr) c.-888+797A>T (n.-888+797A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4933545T>C | CA397319322 | CHRNE,GP1BA | c.941T>C (p.Phe314Ser) c.-888+797A>G (n.-888+797A>G) | |
| 17 | g.4933545T>G | CA397319323 | CHRNE,GP1BA | c.941T>G (p.Phe314Cys) c.-888+797A>C (n.-888+797A>C) | |
| 17 | g.4933545T= | CA2244625602 | CHRNE,GP1BA | c.941T= (p.Phe314=) c.-888+797A= (n.-888+797A=) | |
| 17 | g.4933546C>A | CA8314862 | CHRNE,GP1BA | c.942C>A (p.Phe314Leu) c.-888+796G>T (n.-888+796G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933546C= | CA2244625603 | CHRNE,GP1BA | c.942C= (p.Phe314=) c.-888+796G= (n.-888+796G=) | |
| 17 | g.4933546C>G | CA397319325 | CHRNE,GP1BA | c.942C>G (p.Phe314Leu) c.-888+796G>C (n.-888+796G>C) | dbSNP |
| 17 | g.4933546C>T | CA497678237 | CHRNE,GP1BA | c.942C>T (p.Phe314=) c.-888+796G>A (n.-888+796G>A) | |
| 17 | g.4933549del | CA2635578906 | CHRNE,GP1BA | c.945del (p.Thr316ProfsTer19) c.-888+796del (n.-888+796del) | gnomAD v4 |
| 17 | g.4933547C>A | CA397319327 | CHRNE,GP1BA | c.943C>A (p.Pro315Thr) c.-888+795G>T (n.-888+795G>T) | |
| 17 | g.4933547C= | CA2244625604 | CHRNE,GP1BA | c.943C= (p.Pro315=) c.-888+795G= (n.-888+795G=) | |
| 17 | g.4933547C>G | CA397319329 | CHRNE,GP1BA | c.943C>G (p.Pro315Ala) c.-888+795G>C (n.-888+795G>C) | |
| 17 | g.4933547C>T | CA8314863 | CHRNE,GP1BA | c.943C>T (p.Pro315Ser) c.-888+795G>A (n.-888+795G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933548C>A | CA397319331 | CHRNE,GP1BA | c.944C>A (p.Pro315His) c.-888+794G>T (n.-888+794G>T) | |
| 17 | g.4933548C>G | CA397319335 | CHRNE,GP1BA | c.944C>G (p.Pro315Arg) c.-888+794G>C (n.-888+794G>C) | |
| 17 | g.4933548C>T | CA397319333 | CHRNE,GP1BA | c.944C>T (p.Pro315Leu) c.-888+794G>A (n.-888+794G>A) | gnomAD v4 |
| 17 | g.4933549C>A | CA497678251 | CHRNE,GP1BA | c.945C>A (p.Pro315=) c.-888+793G>T (n.-888+793G>T) | |
| 17 | g.4933549C= | CA2244625605 | CHRNE,GP1BA | c.945C= (p.Pro315=) c.-888+793G= (n.-888+793G=) | |
| 17 | g.4933549C>G | CA497678249 | CHRNE,GP1BA | c.945C>G (p.Pro315=) c.-888+793G>C (n.-888+793G>C) | |
| 17 | g.4933549C>T | CA497678245 | CHRNE,GP1BA | c.945C>T (p.Pro315=) c.-888+793G>A (n.-888+793G>A) | dbSNP |
| 17 | g.4933550A>C | CA397319336 | CHRNE,GP1BA | c.946A>C (p.Thr316Pro) c.-888+792T>G (n.-888+792T>G) | |
| 17 | g.4933550A>G | CA397319337 | CHRNE,GP1BA | c.946A>G (p.Thr316Ala) c.-888+792T>C (n.-888+792T>C) | |
| 17 | g.4933550A>T | CA397319339 | CHRNE,GP1BA | c.946A>T (p.Thr316Ser) c.-888+792T>A (n.-888+792T>A) | |
| 17 | g.4933551C>A | CA8314864 | CHRNE,GP1BA | c.947C>A (p.Thr316Asn) c.-888+791G>T (n.-888+791G>T) | dbSNP ExAC gnomAD v2 |
| 17 | g.4933551C= | CA2244625606 | CHRNE,GP1BA | c.947C= (p.Thr316=) c.-888+791G= (n.-888+791G=) | |
| 17 | g.4933551C>G | CA397319342 | CHRNE,GP1BA | c.947C>G (p.Thr316Ser) c.-888+791G>C (n.-888+791G>C) | |
| 17 | g.4933551C>T | CA397319343 | CHRNE,GP1BA | c.947C>T (p.Thr316Ile) c.-888+791G>A (n.-888+791G>A) | |
| 17 | g.4933552C>A | CA497678255 | CHRNE,GP1BA | c.948C>A (p.Thr316=) c.-888+790G>T (n.-888+790G>T) | |
| 17 | g.4933552C>G | CA497678256 | CHRNE,GP1BA | c.948C>G (p.Thr316=) c.-888+790G>C (n.-888+790G>C) | |
| 17 | g.4933552C>T | CA497678257 | CHRNE,GP1BA | c.948C>T (p.Thr316=) c.-888+790G>A (n.-888+790G>A) | |
| 17 | g.4933553A= | CA2244625607 | CHRNE,GP1BA | c.949A= (p.Lys317=) c.-888+789T= (n.-888+789T=) | |
| 17 | g.4933553A>C | CA397319345 | CHRNE,GP1BA | c.949A>C (p.Lys317Gln) c.-888+789T>G (n.-888+789T>G) | |
| 17 | g.4933553A>G | CA397319347 | CHRNE,GP1BA | c.949A>G (p.Lys317Glu) c.-888+789T>C (n.-888+789T>C) | dbSNP |
| 17 | g.4933553A>T | CA397319349 | CHRNE,GP1BA | c.949A>T (p.Lys317Ter) c.-888+789T>A (n.-888+789T>A) | |
| 17 | g.4933554A>C | CA397319350 | CHRNE,GP1BA | c.950A>C (p.Lys317Thr) c.-888+788T>G (n.-888+788T>G) | |
| 17 | g.4933554A>G | CA397319351 | CHRNE,GP1BA | c.950A>G (p.Lys317Arg) c.-888+788T>C (n.-888+788T>C) | |
| 17 | g.4933554A>T | CA397319352 | CHRNE,GP1BA | c.950A>T (p.Lys317Ile) c.-888+788T>A (n.-888+788T>A) | |
| 17 | g.4933555A>C | CA397319355 | CHRNE,GP1BA | c.951A>C (p.Lys317Asn) c.-888+787T>G (n.-888+787T>G) | |
| 17 | g.4933555A>G | CA497678265 | CHRNE,GP1BA | c.951A>G (p.Lys317=) c.-888+787T>C (n.-888+787T>C) | gnomAD v4 |
| 17 | g.4933555A>T | CA397319354 | CHRNE,GP1BA | c.951A>T (p.Lys317Asn) c.-888+787T>A (n.-888+787T>A) | gnomAD v4 |
| 17 | g.4933556del | CA2580610939 | CHRNE,GP1BA | c.952del (p.Ala318ProfsTer17) c.-888+786del (n.-888+786del) | |
| 17 | g.4933556G>A | CA8314865 | CHRNE,GP1BA | c.952G>A (p.Ala318Thr) c.-888+786C>T (n.-888+786C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933556G>C | CA397319357 | CHRNE,GP1BA | c.952G>C (p.Ala318Pro) c.-888+786C>G (n.-888+786C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4933556G= | CA2244625608 | CHRNE,GP1BA | c.952G= (p.Ala318=) c.-888+786C= (n.-888+786C=) | |
| 17 | g.4933556G>T | CA397319359 | CHRNE,GP1BA | c.952G>T (p.Ala318Ser) c.-888+786C>A (n.-888+786C>A) | |
| 17 | g.4933557C>A | CA397319361 | CHRNE,GP1BA | c.953C>A (p.Ala318Asp) c.-888+785G>T (n.-888+785G>T) | dbSNP |
| 17 | g.4933557C= | CA2244625609 | CHRNE,GP1BA | c.953C= (p.Ala318=) c.-888+785G= (n.-888+785G=) | |
| 17 | g.4933557C>G | CA397319362 | CHRNE,GP1BA | c.953C>G (p.Ala318Gly) c.-888+785G>C (n.-888+785G>C) | |
| 17 | g.4933557C>T | CA397319363 | CHRNE,GP1BA | c.953C>T (p.Ala318Val) c.-888+785G>A (n.-888+785G>A) | |
| 17 | g.4933558C>A | CA497678270 | CHRNE,GP1BA | c.954C>A (p.Ala318=) c.-888+784G>T (n.-888+784G>T) | |
| 17 | g.4933558C= | CA2244625610 | CHRNE,GP1BA | c.954C= (p.Ala318=) c.-888+784G= (n.-888+784G=) | |
| 17 | g.4933558C>G | CA497678274 | CHRNE,GP1BA | c.954C>G (p.Ala318=) c.-888+784G>C (n.-888+784G>C) | gnomAD v4 |
| 17 | g.4933558C>T | CA8314866 | CHRNE,GP1BA | c.954C>T (p.Ala318=) c.-888+784G>A (n.-888+784G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933559C>A | CA397319365 | CHRNE,GP1BA | c.955C>A (p.His319Asn) c.-888+783G>T (n.-888+783G>T) | |
| 17 | g.4933559C>G | CA397319366 | CHRNE,GP1BA | c.955C>G (p.His319Asp) c.-888+783G>C (n.-888+783G>C) | |
| 17 | g.4933559C>T | CA397319368 | CHRNE,GP1BA | c.955C>T (p.His319Tyr) c.-888+783G>A (n.-888+783G>A) | |
| 17 | g.4933560A>C | CA397319370 | CHRNE,GP1BA | c.956A>C (p.His319Pro) c.-888+782T>G (n.-888+782T>G) | |
| 17 | g.4933560A>G | CA397319371 | CHRNE,GP1BA | c.956A>G (p.His319Arg) c.-888+782T>C (n.-888+782T>C) | |
| 17 | g.4933560A>T | CA397319372 | CHRNE,GP1BA | c.956A>T (p.His319Leu) c.-888+782T>A (n.-888+782T>A) | |
| 17 | g.4933561T>A | CA397319374 | CHRNE,GP1BA | c.957T>A (p.His319Gln) c.-888+781A>T (n.-888+781A>T) | gnomAD v4 |
| 17 | g.4933561T>C | CA497678279 | CHRNE,GP1BA | c.957T>C (p.His319=) c.-888+781A>G (n.-888+781A>G) | gnomAD v4 |
| 17 | g.4933561T>G | CA397319375 | CHRNE,GP1BA | c.957T>G (p.His319Gln) c.-888+781A>C (n.-888+781A>C) | |
| 17 | g.4933562A>C | CA397319377 | CHRNE,GP1BA | c.958A>C (p.Thr320Pro) c.-888+780T>G (n.-888+780T>G) | |
| 17 | g.4933562A>G | CA397319380 | CHRNE,GP1BA | c.958A>G (p.Thr320Ala) c.-888+780T>C (n.-888+780T>C) | |
| 17 | g.4933562A>T | CA397319379 | CHRNE,GP1BA | c.958A>T (p.Thr320Ser) c.-888+780T>A (n.-888+780T>A) | |
| 17 | g.4933563C>A | CA397319381 | CHRNE,GP1BA | c.959C>A (p.Thr320Lys) c.-888+779G>T (n.-888+779G>T) | gnomAD v4 |
| 17 | g.4933563C= | CA2244625611 | CHRNE,GP1BA | c.959C= (p.Thr320=) c.-888+779G= (n.-888+779G=) | |
| 17 | g.4933563C>G | CA397319383 | CHRNE,GP1BA | c.959C>G (p.Thr320Arg) c.-888+779G>C (n.-888+779G>C) | |
| 17 | g.4933563C>T | CA397319385 | CHRNE,GP1BA | c.959C>T (p.Thr320Ile) c.-888+779G>A (n.-888+779G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4933564A= | CA2244625612 | CHRNE,GP1BA | c.960A= (p.Thr320=) c.-888+778T= (n.-888+778T=) | |
| 17 | g.4933564A>C | CA8314868 | CHRNE,GP1BA | c.960A>C (p.Thr320=) c.-888+778T>G (n.-888+778T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933564A>G | CA8314867 | CHRNE,GP1BA | c.960A>G (p.Thr320=) c.-888+778T>C (n.-888+778T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933564A>T | CA497678283 | CHRNE,GP1BA | c.960A>T (p.Thr320=) c.-888+778T>A (n.-888+778T>A) | |
| 17 | g.4933565A= | CA2244625613 | CHRNE,GP1BA | c.961A= (p.Thr321=) c.-888+777T= (n.-888+777T=) | |
| 17 | g.4933565A>C | CA397319388 | CHRNE,GP1BA | c.961A>C (p.Thr321Pro) c.-888+777T>G (n.-888+777T>G) | dbSNP |
| 17 | g.4933565A>G | CA8314869 | CHRNE,GP1BA | c.961A>G (p.Thr321Ala) c.-888+777T>C (n.-888+777T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933565A>T | CA397319390 | CHRNE,GP1BA | c.961A>T (p.Thr321Ser) c.-888+777T>A (n.-888+777T>A) | |
| 17 | g.4933566C>A | CA397319391 | CHRNE,GP1BA | c.962C>A (p.Thr321Asn) c.-888+776G>T (n.-888+776G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4933566C= | CA2244625614 | CHRNE,GP1BA | c.962C= (p.Thr321=) c.-888+776G= (n.-888+776G=) | |
| 17 | g.4933566C>G | CA397319393 | CHRNE,GP1BA | c.962C>G (p.Thr321Ser) c.-888+776G>C (n.-888+776G>C) | |
| 17 | g.4933566C>T | CA397319394 | CHRNE,GP1BA | c.962C>T (p.Thr321Ile) c.-888+776G>A (n.-888+776G>A) | |
| 17 | g.4933570dup | CA2502628547 | CHRNE,GP1BA | c.966dup (p.Trp323LeufsTer28) c.-888+776dup (n.-888+776dup) | |
| 17 | g.4933567C>A | CA8314870 | CHRNE,GP1BA | c.963C>A (p.Thr321=) c.-888+775G>T (n.-888+775G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933567C= | CA2244625615 | CHRNE,GP1BA | c.963C= (p.Thr321=) c.-888+775G= (n.-888+775G=) | |
| 17 | g.4933567C>G | CA497678290 | CHRNE,GP1BA | c.963C>G (p.Thr321=) c.-888+775G>C (n.-888+775G>C) | |
| 17 | g.4933567C>T | CA8314871 | CHRNE,GP1BA | c.963C>T (p.Thr321=) c.-888+775G>A (n.-888+775G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.4933568C>A | CA397319396 | CHRNE,GP1BA | c.964C>A (p.Pro322Thr) c.-888+774G>T (n.-888+774G>T) | |
| 17 | g.4933568C= | CA2244625616 | CHRNE,GP1BA | c.964C= (p.Pro322=) c.-888+774G= (n.-888+774G=) | |
| 17 | g.4933568C>G | CA397319398 | CHRNE,GP1BA | c.964C>G (p.Pro322Ala) c.-888+774G>C (n.-888+774G>C) | |
| 17 | g.4933568C>T | CA8314872 | CHRNE,GP1BA | c.964C>T (p.Pro322Ser) c.-888+774G>A (n.-888+774G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933569C>A | CA397319400 | CHRNE,GP1BA | c.965C>A (p.Pro322His) c.-888+773G>T (n.-888+773G>T) | |
| 17 | g.4933569C>G | CA397319401 | CHRNE,GP1BA | c.965C>G (p.Pro322Arg) c.-888+773G>C (n.-888+773G>C) | |
| 17 | g.4933569C>T | CA397319402 | CHRNE,GP1BA | c.965C>T (p.Pro322Leu) c.-888+773G>A (n.-888+773G>A) | |
| 17 | g.4933570C>A | CA497678293 | CHRNE,GP1BA | c.966C>A (p.Pro322=) c.-888+772G>T (n.-888+772G>T) | |
| 17 | g.4933570C= | CA2244625617 | CHRNE,GP1BA | c.966C= (p.Pro322=) c.-888+772G= (n.-888+772G=) | |
| 17 | g.4933570C>G | CA497678295 | CHRNE,GP1BA | c.966C>G (p.Pro322=) c.-888+772G>C (n.-888+772G>C) | gnomAD v4 |
| 17 | g.4933570C>T | CA8314873 | CHRNE,GP1BA | c.966C>T (p.Pro322=) c.-888+772G>A (n.-888+772G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933571T>A | CA397319404 | CHRNE,GP1BA | c.967T>A (p.Trp323Arg) c.-888+771A>T (n.-888+771A>T) | |
| 17 | g.4933571T>C | CA8314874 | CHRNE,GP1BA | c.967T>C (p.Trp323Arg) c.-888+771A>G (n.-888+771A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933571T>G | CA397319405 | CHRNE,GP1BA | c.967T>G (p.Trp323Gly) c.-888+771A>C (n.-888+771A>C) | |
| 17 | g.4933571T= | CA2244625618 | CHRNE,GP1BA | c.967T= (p.Trp323=) c.-888+771A= (n.-888+771A=) | |
| 17 | g.4933572G>A | CA397319407 | CHRNE,GP1BA | c.968G>A (p.Trp323Ter) c.-888+770C>T (n.-888+770C>T) | gnomAD v4 |
| 17 | g.4933572G>C | CA397319409 | CHRNE,GP1BA | c.968G>C (p.Trp323Ser) c.-888+770C>G (n.-888+770C>G) | |
| 17 | g.4933572G>T | CA397319410 | CHRNE,GP1BA | c.968G>T (p.Trp323Leu) c.-888+770C>A (n.-888+770C>A) | |
| 17 | g.4933573G>A | CA397319416 | CHRNE,GP1BA | c.969G>A (p.Trp323Ter) c.-888+769C>T (n.-888+769C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933573G>C | CA397319414 | CHRNE,GP1BA | c.969G>C (p.Trp323Cys) c.-888+769C>G (n.-888+769C>G) | gnomAD v4 |
| 17 | g.4933573G= | CA2244625619 | CHRNE,GP1BA | c.969G= (p.Trp323=) c.-888+769C= (n.-888+769C=) | |
| 17 | g.4933573G>T | CA397319412 | CHRNE,GP1BA | c.969G>T (p.Trp323Cys) c.-888+769C>A (n.-888+769C>A) | |
| 17 | g.4933574G>A | CA397319417 | CHRNE,GP1BA | c.970G>A (p.Gly324Ser) c.-888+768C>T (n.-888+768C>T) | |
| 17 | g.4933574G>C | CA397319419 | CHRNE,GP1BA | c.970G>C (p.Gly324Arg) c.-888+768C>G (n.-888+768C>G) | |
| 17 | g.4933574G>T | CA397319420 | CHRNE,GP1BA | c.970G>T (p.Gly324Cys) c.-888+768C>A (n.-888+768C>A) | |
| 17 | g.4933575G>A | CA397319422 | CHRNE,GP1BA | c.971G>A (p.Gly324Asp) c.-888+767C>T (n.-888+767C>T) | gnomAD v4 |
| 17 | g.4933575G>C | CA397319424 | CHRNE,GP1BA | c.971G>C (p.Gly324Ala) c.-888+767C>G (n.-888+767C>G) | |
| 17 | g.4933575G>T | CA397319425 | CHRNE,GP1BA | c.971G>T (p.Gly324Val) c.-888+767C>A (n.-888+767C>A) | gnomAD v4 |
| 17 | g.4933576T>A | CA497678306 | CHRNE,GP1BA | c.972T>A (p.Gly324=) c.-888+766A>T (n.-888+766A>T) | |
| 17 | g.4933576T>C | CA497678307 | CHRNE,GP1BA | c.972T>C (p.Gly324=) c.-888+766A>G (n.-888+766A>G) | |
| 17 | g.4933576T>G | CA497678308 | CHRNE,GP1BA | c.972T>G (p.Gly324=) c.-888+766A>C (n.-888+766A>C) | |
| 17 | g.4933577C>A | CA397319428 | CHRNE,GP1BA | c.973C>A (p.Leu325Ile) c.-888+765G>T (n.-888+765G>T) | ClinVar dbSNP gnomAD v4 |
| 17 | g.4933577C= | CA2244625620 | CHRNE,GP1BA | c.973C= (p.Leu325=) c.-888+765G= (n.-888+765G=) | |
| 17 | g.4933577C>G | CA397319427 | CHRNE,GP1BA | c.973C>G (p.Leu325Val) c.-888+765G>C (n.-888+765G>C) | |
| 17 | g.4933577C>T | CA497678311 | CHRNE,GP1BA | c.973C>T (p.Leu325=) c.-888+765G>A (n.-888+765G>A) | |
| 17 | g.4933578T>A | CA397319430 | CHRNE,GP1BA | c.974T>A (p.Leu325Gln) c.-888+764A>T (n.-888+764A>T) | |
| 17 | g.4933578T>C | CA397319432 | CHRNE,GP1BA | c.974T>C (p.Leu325Pro) c.-888+764A>G (n.-888+764A>G) | |
| 17 | g.4933578T>G | CA397319433 | CHRNE,GP1BA | c.974T>G (p.Leu325Arg) c.-888+764A>C (n.-888+764A>C) | |
| 17 | g.4933579A>C | CA497678312 | CHRNE,GP1BA | c.975A>C (p.Leu325=) c.-888+763T>G (n.-888+763T>G) | |
| 17 | g.4933579A>G | CA497678315 | CHRNE,GP1BA | c.975A>G (p.Leu325=) c.-888+763T>C (n.-888+763T>C) | gnomAD v4 |
| 17 | g.4933579A>T | CA497678318 | CHRNE,GP1BA | c.975A>T (p.Leu325=) c.-888+763T>A (n.-888+763T>A) | |
| 17 | g.4933580T>A | CA397319435 | CHRNE,GP1BA | c.976T>A (p.Phe326Ile) c.-888+762A>T (n.-888+762A>T) | |
| 17 | g.4933580T>C | CA397319437 | CHRNE,GP1BA | c.976T>C (p.Phe326Leu) c.-888+762A>G (n.-888+762A>G) | gnomAD v4 |
| 17 | g.4933580T>G | CA397319438 | CHRNE,GP1BA | c.976T>G (p.Phe326Val) c.-888+762A>C (n.-888+762A>C) | |
| 17 | g.4933581T>A | CA397319439 | CHRNE,GP1BA | c.977T>A (p.Phe326Tyr) c.-888+761A>T (n.-888+761A>T) | |
| 17 | g.4933581T>C | CA8314875 | CHRNE,GP1BA | c.977T>C (p.Phe326Ser) c.-888+761A>G (n.-888+761A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933581T>G | CA397319440 | CHRNE,GP1BA | c.977T>G (p.Phe326Cys) c.-888+761A>C (n.-888+761A>C) | gnomAD v4 |
| 17 | g.4933581T= | CA2244625621 | CHRNE,GP1BA | c.977T= (p.Phe326=) c.-888+761A= (n.-888+761A=) | |
| 17 | g.4933582C>A | CA397319442 | CHRNE,GP1BA | c.978C>A (p.Phe326Leu) c.-888+760G>T (n.-888+760G>T) | |
| 17 | g.4933582C>G | CA397319444 | CHRNE,GP1BA | c.978C>G (p.Phe326Leu) c.-888+760G>C (n.-888+760G>C) | |
| 17 | g.4933582C>T | CA497678324 | CHRNE,GP1BA | c.978C>T (p.Phe326=) c.-888+760G>A (n.-888+760G>A) | |
| 17 | g.4933583T>A | CA8314876 | CHRNE,GP1BA | c.979T>A (p.Tyr327Asn) c.-888+759A>T (n.-888+759A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933583T>C | CA397319446 | CHRNE,GP1BA | c.979T>C (p.Tyr327His) c.-888+759A>G (n.-888+759A>G) | |
| 17 | g.4933583T>G | CA397319448 | CHRNE,GP1BA | c.979T>G (p.Tyr327Asp) c.-888+759A>C (n.-888+759A>C) | |
| 17 | g.4933583T= | CA2244625622 | CHRNE,GP1BA | c.979T= (p.Tyr327=) c.-888+759A= (n.-888+759A=) | |
| 17 | g.4933584A>C | CA397319450 | CHRNE,GP1BA | c.980A>C (p.Tyr327Ser) c.-888+758T>G (n.-888+758T>G) | |
| 17 | g.4933584A>G | CA397319452 | CHRNE,GP1BA | c.980A>G (p.Tyr327Cys) c.-888+758T>C (n.-888+758T>C) | gnomAD v3 gnomAD v4 |
| 17 | g.4933584A>T | CA397319453 | CHRNE,GP1BA | c.980A>T (p.Tyr327Phe) c.-888+758T>A (n.-888+758T>A) | |
| 17 | g.4933585C>A | CA397319455 | CHRNE,GP1BA | c.981C>A (p.Tyr327Ter) c.-888+757G>T (n.-888+757G>T) | |
| 17 | g.4933585C>G | CA397319458 | CHRNE,GP1BA | c.981C>G (p.Tyr327Ter) c.-888+757G>C (n.-888+757G>C) | |
| 17 | g.4933585C>T | CA497678325 | CHRNE,GP1BA | c.981C>T (p.Tyr327=) c.-888+757G>A (n.-888+757G>A) | |
| 17 | g.4933586T>A | CA397319461 | CHRNE,GP1BA | c.982T>A (p.Ser328Thr) c.-888+756A>T (n.-888+756A>T) | |
| 17 | g.4933586T>C | CA397319464 | CHRNE,GP1BA | c.982T>C (p.Ser328Pro) c.-888+756A>G (n.-888+756A>G) | gnomAD v4 |
| 17 | g.4933586T>G | CA397319462 | CHRNE,GP1BA | c.982T>G (p.Ser328Ala) c.-888+756A>C (n.-888+756A>C) | |
| 17 | g.4933587C>A | CA397319466 | CHRNE,GP1BA | c.983C>A (p.Ser328Ter) c.-888+755G>T (n.-888+755G>T) | gnomAD v4 |
| 17 | g.4933587C= | CA2244625623 | CHRNE,GP1BA | c.983C= (p.Ser328=) c.-888+755G= (n.-888+755G=) | |
| 17 | g.4933587C>G | CA397319469 | CHRNE,GP1BA | c.983C>G (p.Ser328Ter) c.-888+755G>C (n.-888+755G>C) | |
| 17 | g.4933587C>T | CA397319468 | CHRNE,GP1BA | c.983C>T (p.Ser328Leu) c.-888+755G>A (n.-888+755G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933588A= | CA2244625624 | CHRNE,GP1BA | c.984A= (p.Ser328=) c.-888+754T= (n.-888+754T=) | |
| 17 | g.4933588A>C | CA497678329 | CHRNE,GP1BA | c.984A>C (p.Ser328=) c.-888+754T>G (n.-888+754T>G) | |
| 17 | g.4933588A>G | CA497678330 | CHRNE,GP1BA | c.984A>G (p.Ser328=) c.-888+754T>C (n.-888+754T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4933588A>T | CA497678331 | CHRNE,GP1BA | c.984A>T (p.Ser328=) c.-888+754T>A (n.-888+754T>A) | |
| 17 | g.4933589T>A | CA397319471 | CHRNE,GP1BA | c.985T>A (p.Trp329Arg) c.-888+753A>T (n.-888+753A>T) | |
| 17 | g.4933589T>C | CA287216808 | CHRNE,GP1BA | c.985T>C (p.Trp329Arg) c.-888+753A>G (n.-888+753A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4933589T>G | CA397319472 | CHRNE,GP1BA | c.985T>G (p.Trp329Gly) c.-888+753A>C (n.-888+753A>C) | |
| 17 | g.4933589T= | CA2244625625 | CHRNE,GP1BA | c.985T= (p.Trp329=) c.-888+753A= (n.-888+753A=) | |
| 17 | g.4933590G>A | CA397319473 | CHRNE,GP1BA | c.986G>A (p.Trp329Ter) c.-888+752C>T (n.-888+752C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4933590G>C | CA397319476 | CHRNE,GP1BA | c.986G>C (p.Trp329Ser) c.-888+752C>G (n.-888+752C>G) | gnomAD v4 |
| 17 | g.4933590G= | CA2244625626 | CHRNE,GP1BA | c.986G= (p.Trp329=) c.-888+752C= (n.-888+752C=) | |
| 17 | g.4933590G>T | CA397319475 | CHRNE,GP1BA | c.986G>T (p.Trp329Leu) c.-888+752C>A (n.-888+752C>A) | |
| 17 | g.4933591G>A | CA397319477 | CHRNE,GP1BA | c.987G>A (p.Trp329Ter) c.-888+751C>T (n.-888+751C>T) | |
| 17 | g.4933591G>C | CA397319480 | CHRNE,GP1BA | c.987G>C (p.Trp329Cys) c.-888+751C>G (n.-888+751C>G) | |
| 17 | g.4933591G>T | CA397319479 | CHRNE,GP1BA | c.987G>T (p.Trp329Cys) c.-888+751C>A (n.-888+751C>A) | |
| 17 | g.4933592del | CA2566748583 | CHRNE,GP1BA | c.988del (p.Ser330ProfsTer5) c.-888+750del (n.-888+750del) | |
| 17 | g.4933592T>A | CA397319482 | CHRNE,GP1BA | c.988T>A (p.Ser330Thr) c.-888+750A>T (n.-888+750A>T) | |
| 17 | g.4933592T>C | CA397319486 | CHRNE,GP1BA | c.988T>C (p.Ser330Pro) c.-888+750A>G (n.-888+750A>G) | gnomAD v4 |
| 17 | g.4933592T>G | CA397319484 | CHRNE,GP1BA | c.988T>G (p.Ser330Ala) c.-888+750A>C (n.-888+750A>C) | |
| 17 | g.4933593C>A | CA397319488 | CHRNE,GP1BA | c.989C>A (p.Ser330Tyr) c.-888+749G>T (n.-888+749G>T) | |
| 17 | g.4933593C= | CA2244625627 | CHRNE,GP1BA | c.989C= (p.Ser330=) c.-888+749G= (n.-888+749G=) | |
| 17 | g.4933593C>G | CA397319489 | CHRNE,GP1BA | c.989C>G (p.Ser330Cys) c.-888+749G>C (n.-888+749G>C) | gnomAD v4 |
| 17 | g.4933593C>T | CA397319491 | CHRNE,GP1BA | c.989C>T (p.Ser330Phe) c.-888+749G>A (n.-888+749G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4933594C>A | CA497678339 | CHRNE,GP1BA | c.990C>A (p.Ser330=) c.-888+748G>T (n.-888+748G>T) | |
| 17 | g.4933594C>G | CA497678340 | CHRNE,GP1BA | c.990C>G (p.Ser330=) c.-888+748G>C (n.-888+748G>C) | |
| 17 | g.4933594C>T | CA497678343 | CHRNE,GP1BA | c.990C>T (p.Ser330=) c.-888+748G>A (n.-888+748G>A) | gnomAD v4 |
| 17 | g.4933595A= | CA2244625628 | CHRNE,GP1BA | c.991A= (p.Thr331=) c.-888+747T= (n.-888+747T=) | |
| 17 | g.4933595A>C | CA397319492 | CHRNE,GP1BA | c.991A>C (p.Thr331Pro) c.-888+747T>G (n.-888+747T>G) | dbSNP gnomAD v4 |
| 17 | g.4933595A>G | CA397319493 | CHRNE,GP1BA | c.991A>G (p.Thr331Ala) c.-888+747T>C (n.-888+747T>C) | |
| 17 | g.4933595A>T | CA397319494 | CHRNE,GP1BA | c.991A>T (p.Thr331Ser) c.-888+747T>A (n.-888+747T>A) | |
| 17 | g.4933596C>A | CA397319496 | CHRNE,GP1BA | c.992C>A (p.Thr331Asn) c.-888+746G>T (n.-888+746G>T) | |
| 17 | g.4933596C>G | CA397319497 | CHRNE,GP1BA | c.992C>G (p.Thr331Ser) c.-888+746G>C (n.-888+746G>C) | |
| 17 | g.4933596C>T | CA397319499 | CHRNE,GP1BA | c.992C>T (p.Thr331Ile) c.-888+746G>A (n.-888+746G>A) | |
| 17 | g.4933597T>A | CA497678347 | CHRNE,GP1BA | c.993T>A (p.Thr331=) c.-888+745A>T (n.-888+745A>T) | |
| 17 | g.4933597T>C | CA497678348 | CHRNE,GP1BA | c.993T>C (p.Thr331=) c.-888+745A>G (n.-888+745A>G) | |
| 17 | g.4933597T>G | CA497678350 | CHRNE,GP1BA | c.993T>G (p.Thr331=) c.-888+745A>C (n.-888+745A>C) | |
| 17 | g.4933598G>A | CA397319501 | CHRNE,GP1BA | c.994G>A (p.Ala332Thr) c.-888+744C>T (n.-888+744C>T) | |
| 17 | g.4933598G>C | CA397319503 | CHRNE,GP1BA | c.994G>C (p.Ala332Pro) c.-888+744C>G (n.-888+744C>G) | |
| 17 | g.4933598G>T | CA397319505 | CHRNE,GP1BA | c.994G>T (p.Ala332Ser) c.-888+744C>A (n.-888+744C>A) | |
| 17 | g.4933599C>A | CA397319510 | CHRNE,GP1BA | c.995C>A (p.Ala332Asp) c.-888+743G>T (n.-888+743G>T) | |
| 17 | g.4933599C>G | CA397319507 | CHRNE,GP1BA | c.995C>G (p.Ala332Gly) c.-888+743G>C (n.-888+743G>C) | |
| 17 | g.4933599C>T | CA397319508 | CHRNE,GP1BA | c.995C>T (p.Ala332Val) c.-888+743G>A (n.-888+743G>A) | |
| 17 | g.4933600T>A | CA497678353 | CHRNE,GP1BA | c.996T>A (p.Ala332=) c.-888+742A>T (n.-888+742A>T) | |
| 17 | g.4933600T>C | CA497678356 | CHRNE,GP1BA | c.996T>C (p.Ala332=) c.-888+742A>G (n.-888+742A>G) | gnomAD v4 |
| 17 | g.4933600T>G | CA497678358 | CHRNE,GP1BA | c.996T>G (p.Ala332=) c.-888+742A>C (n.-888+742A>C) | |
| 17 | g.4933601T>A | CA397319512 | CHRNE,GP1BA | c.997T>A (p.Ser333Thr) c.-888+741A>T (n.-888+741A>T) | |
| 17 | g.4933601T>C | CA397319514 | CHRNE,GP1BA | c.997T>C (p.Ser333Pro) c.-888+741A>G (n.-888+741A>G) | |
| 17 | g.4933601T>G | CA397319515 | CHRNE,GP1BA | c.997T>G (p.Ser333Ala) c.-888+741A>C (n.-888+741A>C) | |
| 17 | g.4933602C>A | CA397319518 | CHRNE,GP1BA | c.998C>A (p.Ser333Tyr) c.-888+740G>T (n.-888+740G>T) | |
| 17 | g.4933602C= | CA2244625629 | CHRNE,GP1BA | c.998C= (p.Ser333=) c.-888+740G= (n.-888+740G=) | |
| 17 | g.4933602C>G | CA397319519 | CHRNE,GP1BA | c.998C>G (p.Ser333Cys) c.-888+740G>C (n.-888+740G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4933602C>T | CA397319521 | CHRNE,GP1BA | c.998C>T (p.Ser333Phe) c.-888+740G>A (n.-888+740G>A) | |
| 17 | g.4933603T>A | CA497678360 | CHRNE,GP1BA | c.999T>A (p.Ser333=) c.-888+739A>T (n.-888+739A>T) | |
| 17 | g.4933603T>C | CA497678361 | CHRNE,GP1BA | c.999T>C (p.Ser333=) c.-888+739A>G (n.-888+739A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4933603T>G | CA497678362 | CHRNE,GP1BA | c.999T>G (p.Ser333=) c.-888+739A>C (n.-888+739A>C) | |
| 17 | g.4933603T= | CA2244625630 | CHRNE,GP1BA | c.999T= (p.Ser333=) c.-888+739A= (n.-888+739A=) | |
| 17 | g.4933604C>A | CA397319522 | CHRNE,GP1BA | c.1000C>A (p.Leu334Ile) c.-888+738G>T (n.-888+738G>T) | |
| 17 | g.4933604C= | CA2244625631 | CHRNE,GP1BA | c.1000C= (p.Leu334=) c.-888+738G= (n.-888+738G=) | |
| 17 | g.4933604C>G | CA287216817 | CHRNE,GP1BA | c.1000C>G (p.Leu334Val) c.-888+738G>C (n.-888+738G>C) | dbSNP gnomAD v4 |
| 17 | g.4933604C>T | CA497678363 | CHRNE,GP1BA | c.1000C>T (p.Leu334=) c.-888+738G>A (n.-888+738G>A) | COSMIC |
| 17 | g.4933605T>A | CA397319524 | CHRNE,GP1BA | c.1001T>A (p.Leu334Gln) c.-888+737A>T (n.-888+737A>T) | |
| 17 | g.4933605T>C | CA397319525 | CHRNE,GP1BA | c.1001T>C (p.Leu334Pro) c.-888+737A>G (n.-888+737A>G) | gnomAD v4 |
| 17 | g.4933605T>G | CA397319526 | CHRNE,GP1BA | c.1001T>G (p.Leu334Arg) c.-888+737A>C (n.-888+737A>C) | |
| 17 | g.4933606A>C | CA497678369 | CHRNE,GP1BA | c.1002A>C (p.Leu334=) c.-888+736T>G (n.-888+736T>G) | |
| 17 | g.4933606A>G | CA497678371 | CHRNE,GP1BA | c.1002A>G (p.Leu334=) c.-888+736T>C (n.-888+736T>C) | |
| 17 | g.4933606A>T | CA497678370 | CHRNE,GP1BA | c.1002A>T (p.Leu334=) c.-888+736T>A (n.-888+736T>A) | |
| 17 | g.4933607G>A | CA397319532 | CHRNE,GP1BA | c.1003G>A (p.Asp335Asn) c.-888+735C>T (n.-888+735C>T) | |
| 17 | g.4933607G>C | CA397319530 | CHRNE,GP1BA | c.1003G>C (p.Asp335His) c.-888+735C>G (n.-888+735C>G) | |
| 17 | g.4933607G>T | CA397319528 | CHRNE,GP1BA | c.1003G>T (p.Asp335Tyr) c.-888+735C>A (n.-888+735C>A) | |
| 17 | g.4933608A>C | CA397319536 | CHRNE,GP1BA | c.1004A>C (p.Asp335Ala) c.-888+734T>G (n.-888+734T>G) | |
| 17 | g.4933608A>G | CA397319533 | CHRNE,GP1BA | c.1004A>G (p.Asp335Gly) c.-888+734T>C (n.-888+734T>C) | gnomAD v4 |
| 17 | g.4933608A>T | CA397319534 | CHRNE,GP1BA | c.1004A>T (p.Asp335Val) c.-888+734T>A (n.-888+734T>A) | |
| 17 | g.4933609C>A | CA397319538 | CHRNE,GP1BA | c.1005C>A (p.Asp335Glu) c.-888+733G>T (n.-888+733G>T) | |
| 17 | g.4933609C= | CA2244625632 | CHRNE,GP1BA | c.1005C= (p.Asp335=) c.-888+733G= (n.-888+733G=) | |
| 17 | g.4933609C>G | CA397319540 | CHRNE,GP1BA | c.1005C>G (p.Asp335Glu) c.-888+733G>C (n.-888+733G>C) | dbSNP |
| 17 | g.4933609C>T | CA497678376 | CHRNE,GP1BA | c.1005C>T (p.Asp335=) c.-888+733G>A (n.-888+733G>A) | ClinVar dbSNP gnomAD v4 |
| 17 | g.4933610A= | CA2244625633 | CHRNE,GP1BA | c.1006A= (p.Ser336=) c.-888+732T= (n.-888+732T=) | |
| 17 | g.4933610A>C | CA397319542 | CHRNE,GP1BA | c.1006A>C (p.Ser336Arg) c.-888+732T>G (n.-888+732T>G) | |
| 17 | g.4933610A>G | CA397319544 | CHRNE,GP1BA | c.1006A>G (p.Ser336Gly) c.-888+732T>C (n.-888+732T>C) | dbSNP |
| 17 | g.4933610A>T | CA397319545 | CHRNE,GP1BA | c.1006A>T (p.Ser336Cys) c.-888+732T>A (n.-888+732T>A) | |
| 17 | g.4933611G>A | CA397319546 | CHRNE,GP1BA | c.1007G>A (p.Ser336Asn) c.-888+731C>T (n.-888+731C>T) | dbSNP |
| 17 | g.4933611G>C | CA397319548 | CHRNE,GP1BA | c.1007G>C (p.Ser336Thr) c.-888+731C>G (n.-888+731C>G) | |
| 17 | g.4933611G= | CA2244625634 | CHRNE,GP1BA | c.1007G= (p.Ser336=) c.-888+731C= (n.-888+731C=) | |
| 17 | g.4933611G>T | CA397319550 | CHRNE,GP1BA | c.1007G>T (p.Ser336Ile) c.-888+731C>A (n.-888+731C>A) | |
| 17 | g.4933612C>A | CA397319552 | CHRNE,GP1BA | c.1008C>A (p.Ser336Arg) c.-888+730G>T (n.-888+730G>T) | |
| 17 | g.4933612C= | CA2244625635 | CHRNE,GP1BA | c.1008C= (p.Ser336=) c.-888+730G= (n.-888+730G=) | |
| 17 | g.4933612C>G | CA8314878 | CHRNE,GP1BA | c.1008C>G (p.Ser336Arg) c.-888+730G>C (n.-888+730G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933612C>T | CA8314877 | CHRNE,GP1BA | c.1008C>T (p.Ser336=) c.-888+730G>A (n.-888+730G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.4933613C>A | CA397319557 | CHRNE,GP1BA | c.1009C>A (p.Gln337Lys) c.-888+729G>T (n.-888+729G>T) | |
| 17 | g.4933613C= | CA2244625637 | CHRNE,GP1BA | c.1009C= (p.Gln337=) c.-888+729G= (n.-888+729G=) | |
| 17 | g.4933613C>G | CA397319554 | CHRNE,GP1BA | c.1009C>G (p.Gln337Glu) c.-888+729G>C (n.-888+729G>C) | |
| 17 | g.4933613C>T | CA397319555 | CHRNE,GP1BA | c.1009C>T (p.Gln337Ter) c.-888+729G>A (n.-888+729G>A) | dbSNP gnomAD v2 |
| 17 | g.4933613_4933614delinsCA | CA2244625636 | CHRNE,GP1BA | c.1009_1010delinsCA (p.Gln337=) c.-888+728_-888+729delinsTG (n.-888+728_-888+729delinsTG) | |
| 17 | g.4933614A>C | CA397319559 | CHRNE,GP1BA | c.1010A>C (p.Gln337Pro) c.-888+728T>G (n.-888+728T>G) | |
| 17 | g.4933614A>G | CA397319561 | CHRNE,GP1BA | c.1010A>G (p.Gln337Arg) c.-888+728T>C (n.-888+728T>C) | |
| 17 | g.4933614A>T | CA397319562 | CHRNE,GP1BA | c.1010A>T (p.Gln337Leu) c.-888+728T>A (n.-888+728T>A) | |
| 17 | g.4933616dup | CA2695224150 | CHRNE,GP1BA | c.1012dup (p.Met338AsnfsTer13) c.-888+728dup (n.-888+728dup) | |
| 17 | g.4933616del | CA8314879 | CHRNE,GP1BA | c.1012del (p.Met338CysfsTer?) c.-888+728del (n.-888+728del) | dbSNP ExAC gnomAD v2 |
| 17 | g.4933615A= | CA2244625638 | CHRNE,GP1BA | c.1011A= (p.Gln337=) c.-888+727T= (n.-888+727T=) | |
| 17 | g.4933615A>C | CA397319563 | CHRNE,GP1BA | c.1011A>C (p.Gln337His) c.-888+727T>G (n.-888+727T>G) | |
| 17 | g.4933615A>G | CA497678387 | CHRNE,GP1BA | c.1011A>G (p.Gln337=) c.-888+727T>C (n.-888+727T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4933615A>T | CA397319564 | CHRNE,GP1BA | c.1011A>T (p.Gln337His) c.-888+727T>A (n.-888+727T>A) | |
| 17 | g.4933616A= | CA2244625639 | CHRNE,GP1BA | c.1012A= (p.Met338=) c.-888+726T= (n.-888+726T=) | |
| 17 | g.4933616A>C | CA397319565 | CHRNE,GP1BA | c.1012A>C (p.Met338Leu) c.-888+726T>G (n.-888+726T>G) | |
| 17 | g.4933616A>G | CA287216837 | CHRNE,GP1BA | c.1012A>G (p.Met338Val) c.-888+726T>C (n.-888+726T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933616A>T | CA8314880 | CHRNE,GP1BA | c.1012A>T (p.Met338Leu) c.-888+726T>A (n.-888+726T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933617T>A | CA397319568 | CHRNE,GP1BA | c.1013T>A (p.Met338Lys) c.-888+725A>T (n.-888+725A>T) | gnomAD v4 |
| 17 | g.4933617T>C | CA397319571 | CHRNE,GP1BA | c.1013T>C (p.Met338Thr) c.-888+725A>G (n.-888+725A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4933617T>G | CA397319572 | CHRNE,GP1BA | c.1013T>G (p.Met338Arg) c.-888+725A>C (n.-888+725A>C) | |
| 17 | g.4933617T= | CA2244625640 | CHRNE,GP1BA | c.1013T= (p.Met338=) c.-888+725A= (n.-888+725A=) | |
| 17 | g.4933618G>A | CA397319578 | CHRNE,GP1BA | c.1014G>A (p.Met338Ile) c.-888+724C>T (n.-888+724C>T) | |
| 17 | g.4933618G>C | CA397319576 | CHRNE,GP1BA | c.1014G>C (p.Met338Ile) c.-888+724C>G (n.-888+724C>G) | |
| 17 | g.4933618G= | CA2244625641 | CHRNE,GP1BA | c.1014G= (p.Met338=) c.-888+724C= (n.-888+724C=) | |
| 17 | g.4933618G>T | CA397319574 | CHRNE,GP1BA | c.1014G>T (p.Met338Ile) c.-888+724C>A (n.-888+724C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4933619C>A | CA397319580 | CHRNE,GP1BA | c.1015C>A (p.Pro339Thr) c.-888+723G>T (n.-888+723G>T) | dbSNP gnomAD v4 |
| 17 | g.4933619C= | CA2244625642 | CHRNE,GP1BA | c.1015C= (p.Pro339=) c.-888+723G= (n.-888+723G=) | |
| 17 | g.4933619C>G | CA397319583 | CHRNE,GP1BA | c.1015C>G (p.Pro339Ala) c.-888+723G>C (n.-888+723G>C) | |
| 17 | g.4933619C>T | CA397319588 | CHRNE,GP1BA | c.1015C>T (p.Pro339Ser) c.-888+723G>A (n.-888+723G>A) | dbSNP |
| 17 | g.4933620C>A | CA397319592 | CHRNE,GP1BA | c.1016C>A (p.Pro339His) c.-888+722G>T (n.-888+722G>T) | |
| 17 | g.4933620C>G | CA397319595 | CHRNE,GP1BA | c.1016C>G (p.Pro339Arg) c.-888+722G>C (n.-888+722G>C) | |
| 17 | g.4933620C>T | CA397319597 | CHRNE,GP1BA | c.1016C>T (p.Pro339Leu) c.-888+722G>A (n.-888+722G>A) | gnomAD v4 |
| 17 | g.4933626_4933628del | CA2576136024 | CHRNE,GP1BA | c.1022_1024del (p.Ser341del) c.-888+720_-888+722del (n.-888+720_-888+722del) | |
| 17 | g.4933621C>A | CA497678396 | CHRNE,GP1BA | c.1017C>A (p.Pro339=) c.-888+721G>T (n.-888+721G>T) | |
| 17 | g.4933621C>G | CA497678398 | CHRNE,GP1BA | c.1017C>G (p.Pro339=) c.-888+721G>C (n.-888+721G>C) | |
| 17 | g.4933621C>T | CA497678400 | CHRNE,GP1BA | c.1017C>T (p.Pro339=) c.-888+721G>A (n.-888+721G>A) | |
| 17 | g.4933622T>A | CA397319604 | CHRNE,GP1BA | c.1018T>A (p.Ser340Thr) c.-888+720A>T (n.-888+720A>T) | |
| 17 | g.4933622T>C | CA397319603 | CHRNE,GP1BA | c.1018T>C (p.Ser340Pro) c.-888+720A>G (n.-888+720A>G) | |
| 17 | g.4933622T>G | CA397319600 | CHRNE,GP1BA | c.1018T>G (p.Ser340Ala) c.-888+720A>C (n.-888+720A>C) | |
| 17 | g.4933623C>A | CA397319606 | CHRNE,GP1BA | c.1019C>A (p.Ser340Tyr) c.-888+719G>T (n.-888+719G>T) | |
| 17 | g.4933623C>G | CA397319609 | CHRNE,GP1BA | c.1019C>G (p.Ser340Cys) c.-888+719G>C (n.-888+719G>C) | |
| 17 | g.4933623C>T | CA397319611 | CHRNE,GP1BA | c.1019C>T (p.Ser340Phe) c.-888+719G>A (n.-888+719G>A) | |
| 17 | g.4933624C>A | CA497678404 | CHRNE,GP1BA | c.1020C>A (p.Ser340=) c.-888+718G>T (n.-888+718G>T) | gnomAD v4 |
| 17 | g.4933624C>G | CA497678405 | CHRNE,GP1BA | c.1020C>G (p.Ser340=) c.-888+718G>C (n.-888+718G>C) | |
| 17 | g.4933624C>T | CA497678407 | CHRNE,GP1BA | c.1020C>T (p.Ser340=) c.-888+718G>A (n.-888+718G>A) | gnomAD v4 |
| 17 | g.4933625T>A | CA397319613 | CHRNE,GP1BA | c.1021T>A (p.Ser341Thr) c.-888+717A>T (n.-888+717A>T) | |
| 17 | g.4933625T>C | CA8314881 | CHRNE,GP1BA | c.1021T>C (p.Ser341Pro) c.-888+717A>G (n.-888+717A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933625T>G | CA397319617 | CHRNE,GP1BA | c.1021T>G (p.Ser341Ala) c.-888+717A>C (n.-888+717A>C) | |
| 17 | g.4933625T= | CA2244625643 | CHRNE,GP1BA | c.1021T= (p.Ser341=) c.-888+717A= (n.-888+717A=) | |
| 17 | g.4933626C>A | CA397319620 | CHRNE,GP1BA | c.1022C>A (p.Ser341Tyr) c.-888+716G>T (n.-888+716G>T) | |
| 17 | g.4933626C>G | CA397319623 | CHRNE,GP1BA | c.1022C>G (p.Ser341Cys) c.-888+716G>C (n.-888+716G>C) | |
| 17 | g.4933626C>T | CA397319621 | CHRNE,GP1BA | c.1022C>T (p.Ser341Phe) c.-888+716G>A (n.-888+716G>A) |