| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.19962612G>A | CA410688528 | COMT | c.86G>A (p.Trp29Ter) c.-65G>A (n.-65G>A) n.282G>A c.200G>A (p.Trp67Ter) c.497G>A (p.Trp166Ter) | |
| 22 | g.19962612G>C | CA410688530 | COMT | c.86G>C (p.Trp29Ser) c.-65G>C (n.-65G>C) n.282G>C c.200G>C (p.Trp67Ser) c.497G>C (p.Trp166Ser) | dbSNP gnomAD v4 |
| 22 | g.19962612G= | CA2396125207 | COMT | c.86G= (p.Trp29=) c.-65G= (n.-65G=) n.282G= c.200G= (p.Trp67=) c.497G= (p.Trp166=) | |
| 22 | g.19962612G>T | CA410688529 | COMT | c.86G>T (p.Trp29Leu) c.-65G>T (n.-65G>T) n.282G>T c.200G>T (p.Trp67Leu) c.497G>T (p.Trp166Leu) | gnomAD v4 |
| 22 | g.19962615del | CA2655332761 | COMT | c.89del (p.Gly30AlafsTer?) c.-62del (n.-62del) n.285del c.203del (p.Gly68AlafsTer?) c.500del (p.Gly167AlafsTer?) | gnomAD v4 |
| 22 | g.19962613G>A | CA410688531 | COMT | c.87G>A (p.Trp29Ter) c.-64G>A (n.-64G>A) n.283G>A c.201G>A (p.Trp67Ter) c.498G>A (p.Trp166Ter) | |
| 22 | g.19962613G>C | CA410688532 | COMT | c.87G>C (p.Trp29Cys) c.-64G>C (n.-64G>C) n.283G>C c.201G>C (p.Trp67Cys) c.498G>C (p.Trp166Cys) | |
| 22 | g.19962613G>T | CA410688533 | COMT | c.87G>T (p.Trp29Cys) c.-64G>T (n.-64G>T) n.283G>T c.201G>T (p.Trp67Cys) c.498G>T (p.Trp166Cys) | |
| 22 | g.19962614G>A | CA322120777 | COMT | c.88G>A (p.Gly30Ser) c.-63G>A (n.-63G>A) n.284G>A c.202G>A (p.Gly68Ser) c.499G>A (p.Gly167Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.19962614G>C | CA410688534 | COMT | c.88G>C (p.Gly30Arg) c.-63G>C (n.-63G>C) n.284G>C c.202G>C (p.Gly68Arg) c.499G>C (p.Gly167Arg) | |
| 22 | g.19962614G= | CA2396125208 | COMT | c.88G= (p.Gly30=) c.-63G= (n.-63G=) n.284G= c.202G= (p.Gly68=) c.499G= (p.Gly167=) | |
| 22 | g.19962614G>T | CA410688535 | COMT | c.88G>T (p.Gly30Cys) c.-63G>T (n.-63G>T) n.284G>T c.202G>T (p.Gly68Cys) c.499G>T (p.Gly167Cys) | |
| 22 | g.19962615G>A | CA410688536 | COMT | c.89G>A (p.Gly30Asp) c.-62G>A (n.-62G>A) n.285G>A c.203G>A (p.Gly68Asp) c.500G>A (p.Gly167Asp) | gnomAD v4 |
| 22 | g.19962615G>C | CA410688537 | COMT | c.89G>C (p.Gly30Ala) c.-62G>C (n.-62G>C) n.285G>C c.203G>C (p.Gly68Ala) c.500G>C (p.Gly167Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.19962615G= | CA2396125209 | COMT | c.89G= (p.Gly30=) c.-62G= (n.-62G=) n.285G= c.203G= (p.Gly68=) c.500G= (p.Gly167=) | |
| 22 | g.19962615G>T | CA410688538 | COMT | c.89G>T (p.Gly30Val) c.-62G>T (n.-62G>T) n.285G>T c.203G>T (p.Gly68Val) c.500G>T (p.Gly167Val) | |
| 22 | g.19962616C>A | CA513688321 | COMT | c.90C>A (p.Gly30=) c.-61C>A (n.-61C>A) n.286C>A c.204C>A (p.Gly68=) c.501C>A (p.Gly167=) | |
| 22 | g.19962616C>G | CA513688319 | COMT | c.90C>G (p.Gly30=) c.-61C>G (n.-61C>G) n.286C>G c.204C>G (p.Gly68=) c.501C>G (p.Gly167=) | |
| 22 | g.19962616C>T | CA513688318 | COMT | c.90C>T (p.Gly30=) c.-61C>T (n.-61C>T) n.286C>T c.204C>T (p.Gly68=) c.501C>T (p.Gly167=) | |
| 22 | g.19962617T>A | CA410688539 | COMT | c.91T>A (p.Trp31Arg) c.-60T>A (n.-60T>A) n.287T>A c.205T>A (p.Trp69Arg) c.502T>A (p.Trp168Arg) | |
| 22 | g.19962617T>C | CA410688540 | COMT | c.91T>C (p.Trp31Arg) c.-60T>C (n.-60T>C) n.287T>C c.205T>C (p.Trp69Arg) c.502T>C (p.Trp168Arg) | gnomAD v4 |
| 22 | g.19962617T>G | CA410688541 | COMT | c.91T>G (p.Trp31Gly) c.-60T>G (n.-60T>G) n.287T>G c.205T>G (p.Trp69Gly) c.502T>G (p.Trp168Gly) | |
| 22 | g.19962618G>A | CA410688544 | COMT | c.92G>A (p.Trp31Ter) c.-59G>A (n.-59G>A) n.288G>A c.206G>A (p.Trp69Ter) c.503G>A (p.Trp168Ter) | |
| 22 | g.19962618G>C | CA410688542 | COMT | c.92G>C (p.Trp31Ser) c.-59G>C (n.-59G>C) n.288G>C c.206G>C (p.Trp69Ser) c.503G>C (p.Trp168Ser) | |
| 22 | g.19962618G>T | CA410688543 | COMT | c.92G>T (p.Trp31Leu) c.-59G>T (n.-59G>T) n.288G>T c.206G>T (p.Trp69Leu) c.503G>T (p.Trp168Leu) | |
| 22 | g.19962621del | CA2655332774 | COMT | c.95del (p.Gly32AlafsTer29) c.-56del (n.-56del) n.291del c.209del (p.Gly70AlafsTer29) c.506del (p.Gly169AlafsTer29) | gnomAD v4 |
| 22 | g.19962619G>A | CA322120779 | COMT | c.93G>A (p.Trp31Ter) c.-58G>A (n.-58G>A) n.289G>A c.207G>A (p.Trp69Ter) c.504G>A (p.Trp168Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.19962619G>C | CA410688545 | COMT | c.93G>C (p.Trp31Cys) c.-58G>C (n.-58G>C) n.289G>C c.207G>C (p.Trp69Cys) c.504G>C (p.Trp168Cys) | |
| 22 | g.19962619G= | CA2396125210 | COMT | c.93G= (p.Trp31=) c.-58G= (n.-58G=) n.289G= c.207G= (p.Trp69=) c.504G= (p.Trp168=) | |
| 22 | g.19962619G>T | CA410688546 | COMT | c.93G>T (p.Trp31Cys) c.-58G>T (n.-58G>T) n.289G>T c.207G>T (p.Trp69Cys) c.504G>T (p.Trp168Cys) | |
| 22 | g.19962620G>A | CA10104457 | COMT | c.94G>A (p.Gly32Ser) c.-57G>A (n.-57G>A) n.290G>A c.208G>A (p.Gly70Ser) c.505G>A (p.Gly169Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.19962620G>C | CA410688547 | COMT | c.94G>C (p.Gly32Arg) c.-57G>C (n.-57G>C) n.290G>C c.208G>C (p.Gly70Arg) c.505G>C (p.Gly169Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.19962620G= | CA2396125211 | COMT | c.94G= (p.Gly32=) c.-57G= (n.-57G=) n.290G= c.208G= (p.Gly70=) c.505G= (p.Gly169=) | |
| 22 | g.19962620G>T | CA410688548 | COMT | c.94G>T (p.Gly32Cys) c.-57G>T (n.-57G>T) n.290G>T c.208G>T (p.Gly70Cys) c.505G>T (p.Gly169Cys) | |
| 22 | g.19962621G>A | CA10104458 | COMT | c.95G>A (p.Gly32Asp) c.-56G>A (n.-56G>A) n.291G>A c.209G>A (p.Gly70Asp) c.506G>A (p.Gly169Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.19962621G>C | CA410688549 | COMT | c.95G>C (p.Gly32Ala) c.-56G>C (n.-56G>C) n.291G>C c.209G>C (p.Gly70Ala) c.506G>C (p.Gly169Ala) | |
| 22 | g.19962621G= | CA2396125212 | COMT | c.95G= (p.Gly32=) c.-56G= (n.-56G=) n.291G= c.209G= (p.Gly70=) c.506G= (p.Gly169=) | |
| 22 | g.19962621G>T | CA410688550 | COMT | c.95G>T (p.Gly32Val) c.-56G>T (n.-56G>T) n.291G>T c.209G>T (p.Gly70Val) c.506G>T (p.Gly169Val) | gnomAD v4 |
| 22 | g.19962622C>A | CA513688347 | COMT | c.96C>A (p.Gly32=) c.-55C>A (n.-55C>A) n.292C>A c.210C>A (p.Gly70=) c.507C>A (p.Gly169=) | gnomAD v4 |
| 22 | g.19962622C>G | CA513688345 | COMT | c.96C>G (p.Gly32=) c.-55C>G (n.-55C>G) n.292C>G c.210C>G (p.Gly70=) c.507C>G (p.Gly169=) | |
| 22 | g.19962622C>T | CA513688343 | COMT | c.96C>T (p.Gly32=) c.-55C>T (n.-55C>T) n.292C>T c.210C>T (p.Gly70=) c.507C>T (p.Gly169=) | COSMIC |
| 22 | g.19962623C>A | CA410688551 | COMT | c.97C>A (p.Leu33Met) c.-54C>A (n.-54C>A) n.293C>A c.211C>A (p.Leu71Met) c.508C>A (p.Leu170Met) | gnomAD v4 |
| 22 | g.19962623C= | CA2396125213 | COMT | c.97C= (p.Leu33=) c.-54C= (n.-54C=) n.293C= c.211C= (p.Leu71=) c.508C= (p.Leu170=) | |
| 22 | g.19962623C>G | CA410688552 | COMT | c.97C>G (p.Leu33Val) c.-54C>G (n.-54C>G) n.293C>G c.211C>G (p.Leu71Val) c.508C>G (p.Leu170Val) | |
| 22 | g.19962623C>T | CA513688348 | COMT | c.97C>T (p.Leu33=) c.-54C>T (n.-54C>T) n.293C>T c.211C>T (p.Leu71=) c.508C>T (p.Leu170=) | ClinVar dbSNP gnomAD v4 |
| 22 | g.19962624T>A | CA410688555 | COMT | c.98T>A (p.Leu33Gln) c.-53T>A (n.-53T>A) n.294T>A c.212T>A (p.Leu71Gln) c.509T>A (p.Leu170Gln) | gnomAD v4 |
| 22 | g.19962624T>C | CA410688554 | COMT | c.98T>C (p.Leu33Pro) c.-53T>C (n.-53T>C) n.294T>C c.212T>C (p.Leu71Pro) c.509T>C (p.Leu170Pro) | dbSNP gnomAD v4 |
| 22 | g.19962624T>G | CA410688553 | COMT | c.98T>G (p.Leu33Arg) c.-53T>G (n.-53T>G) n.294T>G c.212T>G (p.Leu71Arg) c.509T>G (p.Leu170Arg) | |
| 22 | g.19962624T= | CA2396125214 | COMT | c.98T= (p.Leu33=) c.-53T= (n.-53T=) n.294T= c.212T= (p.Leu71=) c.509T= (p.Leu170=) | |
| 22 | g.19962624dup | CA10104459 | COMT | c.98dup (p.Cys34ValfsTer20) c.-53dup (n.-53dup) n.294dup c.212dup (p.Cys72ValfsTer20) c.509dup (p.Cys171ValfsTer20) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |