| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.120626613C>A | CA414208200 | C1GALT1C1 | c.554G>T (p.Gly185Val) | |
| X | g.120626613C= | CA2454930757 | C1GALT1C1 | c.554G= (p.Gly185=) | |
| X | g.120626613C>G | CA414208202 | C1GALT1C1 | c.554G>C (p.Gly185Ala) | |
| X | g.120626613C>T | CA414208203 | C1GALT1C1 | c.554G>A (p.Gly185Glu) | dbSNP |
| X | g.120626614C>A | CA414208206 | C1GALT1C1 | c.553G>T (p.Gly185Ter) | |
| X | g.120626614C>G | CA414208208 | C1GALT1C1 | c.553G>C (p.Gly185Arg) | |
| X | g.120626614C>T | CA414208210 | C1GALT1C1 | c.553G>A (p.Gly185Arg) | |
| X | g.120626615T>A | CA414208212 | C1GALT1C1 | c.552A>T (p.Glu184Asp) | |
| X | g.120626615T>C | CA518448679 | C1GALT1C1 | c.552A>G (p.Glu184=) | |
| X | g.120626615T>G | CA414208213 | C1GALT1C1 | c.552A>C (p.Glu184Asp) | |
| X | g.120626616T>A | CA414208215 | C1GALT1C1 | c.551A>T (p.Glu184Val) | |
| X | g.120626616T>C | CA414208217 | C1GALT1C1 | c.551A>G (p.Glu184Gly) | |
| X | g.120626616T>G | CA414208218 | C1GALT1C1 | c.551A>C (p.Glu184Ala) | |
| X | g.120626617C>A | CA414208223 | C1GALT1C1 | c.550G>T (p.Glu184Ter) | |
| X | g.120626617C>G | CA414208225 | C1GALT1C1 | c.550G>C (p.Glu184Gln) | |
| X | g.120626617C>T | CA414208221 | C1GALT1C1 | c.550G>A (p.Glu184Lys) | |
| X | g.120626618C>A | CA414208227 | C1GALT1C1 | c.549G>T (p.Met183Ile) | |
| X | g.120626618C>G | CA414208229 | C1GALT1C1 | c.549G>C (p.Met183Ile) | |
| X | g.120626618C>T | CA414208231 | C1GALT1C1 | c.549G>A (p.Met183Ile) | |
| X | g.120626619A>C | CA414208233 | C1GALT1C1 | c.548T>G (p.Met183Arg) | |
| X | g.120626619A>G | CA414208235 | C1GALT1C1 | c.548T>C (p.Met183Thr) | |
| X | g.120626619A>T | CA414208236 | C1GALT1C1 | c.548T>A (p.Met183Lys) | |
| X | g.120626620T>A | CA414208237 | C1GALT1C1 | c.547A>T (p.Met183Leu) | |
| X | g.120626620T>C | CA414208239 | C1GALT1C1 | c.547A>G (p.Met183Val) | |
| X | g.120626620T>G | CA414208241 | C1GALT1C1 | c.547A>C (p.Met183Leu) | |
| X | g.120626621A>C | CA518448684 | C1GALT1C1 | c.546T>G (p.Gly182=) | |
| X | g.120626621A>G | CA518448686 | C1GALT1C1 | c.546T>C (p.Gly182=) | |
| X | g.120626621A>T | CA518448687 | C1GALT1C1 | c.546T>A (p.Gly182=) | |
| X | g.120626622C>A | CA414208242 | C1GALT1C1 | c.545G>T (p.Gly182Val) | |
| X | g.120626622C= | CA2454930763 | C1GALT1C1 | c.545G= (p.Gly182=) | |
| X | g.120626622C>G | CA414208244 | C1GALT1C1 | c.545G>C (p.Gly182Ala) | |
| X | g.120626622C>T | CA414208246 | C1GALT1C1 | c.545G>A (p.Gly182Asp) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.120626623C>A | CA414208253 | C1GALT1C1 | c.544G>T (p.Gly182Cys) | |
| X | g.120626623C>G | CA414208251 | C1GALT1C1 | c.544G>C (p.Gly182Arg) | |
| X | g.120626623C>T | CA414208249 | C1GALT1C1 | c.544G>A (p.Gly182Ser) | |
| X | g.120626624C>A | CA518448689 | C1GALT1C1 | c.543G>T (p.Val181=) | |
| X | g.120626624C>G | CA518448691 | C1GALT1C1 | c.543G>C (p.Val181=) | |
| X | g.120626624C>T | CA518448692 | C1GALT1C1 | c.543G>A (p.Val181=) | |
| X | g.120626625A>C | CA414208255 | C1GALT1C1 | c.542T>G (p.Val181Gly) | |
| X | g.120626625A>G | CA414208258 | C1GALT1C1 | c.542T>C (p.Val181Ala) | COSMIC |
| X | g.120626625A>T | CA414208260 | C1GALT1C1 | c.542T>A (p.Val181Glu) | |
| X | g.120626626C>A | CA414208261 | C1GALT1C1 | c.541G>T (p.Val181Leu) | |
| X | g.120626626C>G | CA414208262 | C1GALT1C1 | c.541G>C (p.Val181Leu) | |
| X | g.120626626C>T | CA414208264 | C1GALT1C1 | c.541G>A (p.Val181Met) | |
| X | g.120626627A= | CA2454930767 | C1GALT1C1 | c.540T= (p.Tyr180=) | |
| X | g.120626627A>C | CA414208267 | C1GALT1C1 | c.540T>G (p.Tyr180Ter) | ClinVar dbSNP |
| X | g.120626627A>G | CA10505955 | C1GALT1C1 | c.540T>C (p.Tyr180=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120626627A>T | CA414208270 | C1GALT1C1 | c.540T>A (p.Tyr180Ter) | |
| X | g.120626628T>A | CA414208272 | C1GALT1C1 | c.539A>T (p.Tyr180Phe) | |
| X | g.120626628T>C | CA414208274 | C1GALT1C1 | c.539A>G (p.Tyr180Cys) | |
| X | g.120626628T>G | CA414208276 | C1GALT1C1 | c.539A>C (p.Tyr180Ser) | |
| X | g.120626629A>C | CA414208279 | C1GALT1C1 | c.538T>G (p.Tyr180Asp) | |
| X | g.120626629A>G | CA414208283 | C1GALT1C1 | c.538T>C (p.Tyr180His) | |
| X | g.120626629A>T | CA414208281 | C1GALT1C1 | c.538T>A (p.Tyr180Asn) | |
| X | g.120626630T>A | CA414208285 | C1GALT1C1 | c.537A>T (p.Glu179Asp) | |
| X | g.120626630T>C | CA518448697 | C1GALT1C1 | c.537A>G (p.Glu179=) | |
| X | g.120626630T>G | CA414208286 | C1GALT1C1 | c.537A>C (p.Glu179Asp) | |
| X | g.120626631T>A | CA414208287 | C1GALT1C1 | c.536A>T (p.Glu179Val) | |
| X | g.120626631T>C | CA414208291 | C1GALT1C1 | c.536A>G (p.Glu179Gly) | |
| X | g.120626631T>G | CA414208289 | C1GALT1C1 | c.536A>C (p.Glu179Ala) | |
| X | g.120626632C>A | CA414208293 | C1GALT1C1 | c.535G>T (p.Glu179Ter) | |
| X | g.120626632C>G | CA414208297 | C1GALT1C1 | c.535G>C (p.Glu179Gln) | |
| X | g.120626632C>T | CA414208294 | C1GALT1C1 | c.535G>A (p.Glu179Lys) | |
| X | g.120626633A>C | CA518448703 | C1GALT1C1 | c.534T>G (p.Leu178=) | |
| X | g.120626633A>G | CA518448704 | C1GALT1C1 | c.534T>C (p.Leu178=) | gnomAD v4 |
| X | g.120626633A>T | CA518448705 | C1GALT1C1 | c.534T>A (p.Leu178=) | |
| X | g.120626634A= | CA2454930772 | C1GALT1C1 | c.533T= (p.Leu178=) | |
| X | g.120626634A>C | CA414208299 | C1GALT1C1 | c.533T>G (p.Leu178Arg) | |
| X | g.120626634A>G | CA414208303 | C1GALT1C1 | c.533T>C (p.Leu178Pro) | |
| X | g.120626634A>T | CA414208302 | C1GALT1C1 | c.533T>A (p.Leu178His) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.120626635G>A | CA414208306 | C1GALT1C1 | c.532C>T (p.Leu178Phe) | gnomAD v4 |
| X | g.120626635G>C | CA414208309 | C1GALT1C1 | c.532C>G (p.Leu178Val) | |
| X | g.120626635G>T | CA414208307 | C1GALT1C1 | c.532C>A (p.Leu178Ile) | |
| X | g.120626636G>A | CA518448707 | C1GALT1C1 | c.531C>T (p.Asp177=) | |
| X | g.120626636G>C | CA414208311 | C1GALT1C1 | c.531C>G (p.Asp177Glu) | |
| X | g.120626636G>T | CA414208313 | C1GALT1C1 | c.531C>A (p.Asp177Glu) | |
| X | g.120626637T>A | CA414208315 | C1GALT1C1 | c.530A>T (p.Asp177Val) | |
| X | g.120626637T>C | CA414208319 | C1GALT1C1 | c.530A>G (p.Asp177Gly) | |
| X | g.120626637T>G | CA414208317 | C1GALT1C1 | c.530A>C (p.Asp177Ala) | |
| X | g.120626638C>A | CA414208321 | C1GALT1C1 | c.529G>T (p.Asp177Tyr) | |
| X | g.120626638C>G | CA414208323 | C1GALT1C1 | c.529G>C (p.Asp177His) | |
| X | g.120626638C>T | CA414208325 | C1GALT1C1 | c.529G>A (p.Asp177Asn) | |
| X | g.120626639T>A | CA518448208 | C1GALT1C1 | c.528A>T (p.Gly176=) | |
| X | g.120626639T>C | CA518448210 | C1GALT1C1 | c.528A>G (p.Gly176=) | |
| X | g.120626639T>G | CA518448211 | C1GALT1C1 | c.528A>C (p.Gly176=) | |
| X | g.120626640C>A | CA414208327 | C1GALT1C1 | c.527G>T (p.Gly176Val) | |
| X | g.120626640C= | CA2454930774 | C1GALT1C1 | c.527G= (p.Gly176=) | |
| X | g.120626640C>G | CA414208329 | C1GALT1C1 | c.527G>C (p.Gly176Ala) | dbSNP |
| X | g.120626640C>T | CA414208331 | C1GALT1C1 | c.527G>A (p.Gly176Glu) | |
| X | g.120626641C>A | CA414208333 | C1GALT1C1 | c.526G>T (p.Gly176Ter) | |
| X | g.120626641C= | CA2454930778 | C1GALT1C1 | c.526G= (p.Gly176=) | |
| X | g.120626641C>G | CA414208335 | C1GALT1C1 | c.526G>C (p.Gly176Arg) | |
| X | g.120626641C>T | CA414208337 | C1GALT1C1 | c.526G>A (p.Gly176Arg) | dbSNP |
| X | g.120626642A= | CA2454930781 | C1GALT1C1 | c.525T= (p.Ser175=) | |
| X | g.120626642A>C | CA518448219 | C1GALT1C1 | c.525T>G (p.Ser175=) | |
| X | g.120626642A>G | CA518448221 | C1GALT1C1 | c.525T>C (p.Ser175=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120626642A>T | CA518448223 | C1GALT1C1 | c.525T>A (p.Ser175=) | |
| X | g.120626643G>A | CA414208339 | C1GALT1C1 | c.524C>T (p.Ser175Phe) | |
| X | g.120626643G>C | CA414208341 | C1GALT1C1 | c.524C>G (p.Ser175Cys) | |
| X | g.120626643G>T | CA414208343 | C1GALT1C1 | c.524C>A (p.Ser175Tyr) | |
| X | g.120626644A>C | CA414208345 | C1GALT1C1 | c.523T>G (p.Ser175Ala) | |
| X | g.120626644A>G | CA414208349 | C1GALT1C1 | c.523T>C (p.Ser175Pro) | |
| X | g.120626644A>T | CA414208347 | C1GALT1C1 | c.523T>A (p.Ser175Thr) | |
| X | g.120626645T>A | CA414208351 | C1GALT1C1 | c.522A>T (p.Lys174Asn) | |
| X | g.120626645T>C | CA518448226 | C1GALT1C1 | c.522A>G (p.Lys174=) | |
| X | g.120626645T>G | CA414208353 | C1GALT1C1 | c.522A>C (p.Lys174Asn) | |
| X | g.120626646T>A | CA414208355 | C1GALT1C1 | c.521A>T (p.Lys174Ile) | |
| X | g.120626646T>C | CA414208357 | C1GALT1C1 | c.521A>G (p.Lys174Arg) | |
| X | g.120626646T>G | CA414208359 | C1GALT1C1 | c.521A>C (p.Lys174Thr) | |
| X | g.120626647T>A | CA414208361 | C1GALT1C1 | c.520A>T (p.Lys174Ter) | |
| X | g.120626647T>C | CA414208363 | C1GALT1C1 | c.520A>G (p.Lys174Glu) | |
| X | g.120626647T>G | CA414208365 | C1GALT1C1 | c.520A>C (p.Lys174Gln) | |
| X | g.120626648T>A | CA518448229 | C1GALT1C1 | c.519A>T (p.Ile173=) | |
| X | g.120626648T>C | CA414208367 | C1GALT1C1 | c.519A>G (p.Ile173Met) | dbSNP |
| X | g.120626648T>G | CA518448230 | C1GALT1C1 | c.519A>C (p.Ile173=) | |
| X | g.120626648T= | CA2454930784 | C1GALT1C1 | c.519A= (p.Ile173=) | |
| X | g.120626649A>C | CA414208372 | C1GALT1C1 | c.518T>G (p.Ile173Arg) | |
| X | g.120626649A>G | CA414208370 | C1GALT1C1 | c.518T>C (p.Ile173Thr) | |
| X | g.120626649A>T | CA414208369 | C1GALT1C1 | c.518T>A (p.Ile173Lys) | |
| X | g.120626650T>A | CA414208374 | C1GALT1C1 | c.517A>T (p.Ile173Leu) | |
| X | g.120626650T>C | CA414208376 | C1GALT1C1 | c.517A>G (p.Ile173Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120626650T>G | CA414208378 | C1GALT1C1 | c.517A>C (p.Ile173Leu) | |
| X | g.120626650T= | CA2454930793 | C1GALT1C1 | c.517A= (p.Ile173=) | |
| X | g.120626651A>C | CA518448237 | C1GALT1C1 | c.516T>G (p.Thr172=) | |
| X | g.120626651A>G | CA518448238 | C1GALT1C1 | c.516T>C (p.Thr172=) | |
| X | g.120626651A>T | CA518448239 | C1GALT1C1 | c.516T>A (p.Thr172=) | |
| X | g.120626652G>A | CA414208381 | C1GALT1C1 | c.515C>T (p.Thr172Ile) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.120626652G>C | CA334144957 | C1GALT1C1 | c.515C>G (p.Thr172Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120626652G= | CA2454930795 | C1GALT1C1 | c.515C= (p.Thr172=) | |
| X | g.120626652G>T | CA414208383 | C1GALT1C1 | c.515C>A (p.Thr172Asn) | |
| X | g.120626653T>A | CA414208386 | C1GALT1C1 | c.514A>T (p.Thr172Ser) | |
| X | g.120626653T>C | CA414208388 | C1GALT1C1 | c.514A>G (p.Thr172Ala) | |
| X | g.120626653T>G | CA414208390 | C1GALT1C1 | c.514A>C (p.Thr172Pro) | |
| X | g.120626654G>A | CA518448241 | C1GALT1C1 | c.513C>T (p.His171=) | |
| X | g.120626654G>C | CA414208392 | C1GALT1C1 | c.513C>G (p.His171Gln) | |
| X | g.120626654G= | CA2454930798 | C1GALT1C1 | c.513C= (p.His171=) | |
| X | g.120626654G>T | CA10505956 | C1GALT1C1 | c.513C>A (p.His171Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120626655T>A | CA414208399 | C1GALT1C1 | c.512A>T (p.His171Leu) | |
| X | g.120626655T>C | CA414208397 | C1GALT1C1 | c.512A>G (p.His171Arg) | gnomAD v4 |
| X | g.120626655T>G | CA414208395 | C1GALT1C1 | c.512A>C (p.His171Pro) | |
| X | g.120626656G>A | CA414208400 | C1GALT1C1 | c.511C>T (p.His171Tyr) | |
| X | g.120626656G>C | CA414208402 | C1GALT1C1 | c.511C>G (p.His171Asp) | |
| X | g.120626656G>T | CA414208404 | C1GALT1C1 | c.511C>A (p.His171Asn) | |
| X | g.120626657G>A | CA518448245 | C1GALT1C1 | c.510C>T (p.Gly170=) | gnomAD v4 |
| X | g.120626657G>C | CA518448246 | C1GALT1C1 | c.510C>G (p.Gly170=) | |
| X | g.120626657G>T | CA518448248 | C1GALT1C1 | c.510C>A (p.Gly170=) | |
| X | g.120626658C>A | CA414208407 | C1GALT1C1 | c.509G>T (p.Gly170Val) | |
| X | g.120626658C>G | CA414208408 | C1GALT1C1 | c.509G>C (p.Gly170Ala) | |
| X | g.120626658C>T | CA414208410 | C1GALT1C1 | c.509G>A (p.Gly170Asp) | |
| X | g.120626659C>A | CA414208411 | C1GALT1C1 | c.508G>T (p.Gly170Cys) | |
| X | g.120626659C>G | CA414208413 | C1GALT1C1 | c.508G>C (p.Gly170Arg) | |
| X | g.120626659C>T | CA414208414 | C1GALT1C1 | c.508G>A (p.Gly170Ser) | COSMIC |
| X | g.120626660T>A | CA518448253 | C1GALT1C1 | c.507A>T (p.Leu169=) | |
| X | g.120626660T>C | CA518448258 | C1GALT1C1 | c.507A>G (p.Leu169=) | |
| X | g.120626660T>G | CA518448255 | C1GALT1C1 | c.507A>C (p.Leu169=) | |
| X | g.120626661A>C | CA414208417 | C1GALT1C1 | c.506T>G (p.Leu169Arg) | |
| X | g.120626661A>G | CA414208419 | C1GALT1C1 | c.506T>C (p.Leu169Pro) | COSMIC |
| X | g.120626661A>T | CA414208420 | C1GALT1C1 | c.506T>A (p.Leu169Gln) | |
| X | g.120626662G>A | CA518448261 | C1GALT1C1 | c.505C>T (p.Leu169=) | COSMIC |
| X | g.120626662G>C | CA10505957 | C1GALT1C1 | c.505C>G (p.Leu169Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120626662G= | CA2454930803 | C1GALT1C1 | c.505C= (p.Leu169=) | |
| X | g.120626662G>T | CA414208422 | C1GALT1C1 | c.505C>A (p.Leu169Ile) | |
| X | g.120626663A>C | CA414208424 | C1GALT1C1 | c.504T>G (p.Tyr168Ter) | |
| X | g.120626663A>G | CA518448263 | C1GALT1C1 | c.504T>C (p.Tyr168=) | |
| X | g.120626663A>T | CA414208426 | C1GALT1C1 | c.504T>A (p.Tyr168Ter) | |
| X | g.120626664T>A | CA414208429 | C1GALT1C1 | c.503A>T (p.Tyr168Phe) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.120626664T>C | CA414208430 | C1GALT1C1 | c.503A>G (p.Tyr168Cys) | |
| X | g.120626664T>G | CA414208431 | C1GALT1C1 | c.503A>C (p.Tyr168Ser) | |
| X | g.120626664T= | CA2454930806 | C1GALT1C1 | c.503A= (p.Tyr168=) | |
| X | g.120626665A>C | CA414208434 | C1GALT1C1 | c.502T>G (p.Tyr168Asp) | |
| X | g.120626665A>G | CA414208436 | C1GALT1C1 | c.502T>C (p.Tyr168His) | |
| X | g.120626665A>T | CA414208438 | C1GALT1C1 | c.502T>A (p.Tyr168Asn) | |
| X | g.120626666G>A | CA10505958 | C1GALT1C1 | c.501C>T (p.Phe167=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120626666G>C | CA414208439 | C1GALT1C1 | c.501C>G (p.Phe167Leu) | |
| X | g.120626666G= | CA2454930808 | C1GALT1C1 | c.501C= (p.Phe167=) | |
| X | g.120626666G>T | CA414208440 | C1GALT1C1 | c.501C>A (p.Phe167Leu) | |
| X | g.120626667A>C | CA414208443 | C1GALT1C1 | c.500T>G (p.Phe167Cys) | |
| X | g.120626667A>G | CA414208445 | C1GALT1C1 | c.500T>C (p.Phe167Ser) | |
| X | g.120626667A>T | CA414208447 | C1GALT1C1 | c.500T>A (p.Phe167Tyr) | |
| X | g.120626668A= | CA2454930810 | C1GALT1C1 | c.499T= (p.Phe167=) | |
| X | g.120626668A>C | CA414208453 | C1GALT1C1 | c.499T>G (p.Phe167Val) | |
| X | g.120626668A>G | CA414208449 | C1GALT1C1 | c.499T>C (p.Phe167Leu) | |
| X | g.120626668A>T | CA414208451 | C1GALT1C1 | c.499T>A (p.Phe167Ile) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.120626669A>C | CA518448274 | C1GALT1C1 | c.498T>G (p.Pro166=) | |
| X | g.120626669A>G | CA518448273 | C1GALT1C1 | c.498T>C (p.Pro166=) | |
| X | g.120626669A>T | CA518448272 | C1GALT1C1 | c.498T>A (p.Pro166=) | |
| X | g.120626670G>A | CA414208455 | C1GALT1C1 | c.497C>T (p.Pro166Leu) | |
| X | g.120626670G>C | CA414208457 | C1GALT1C1 | c.497C>G (p.Pro166Arg) | |
| X | g.120626670G>T | CA414208458 | C1GALT1C1 | c.497C>A (p.Pro166His) | |
| X | g.120626671G>A | CA414208461 | C1GALT1C1 | c.496C>T (p.Pro166Ser) | |
| X | g.120626671G>C | CA414208462 | C1GALT1C1 | c.496C>G (p.Pro166Ala) | |
| X | g.120626671G= | CA2454930813 | C1GALT1C1 | c.496C= (p.Pro166=) | |
| X | g.120626671G>T | CA414208464 | C1GALT1C1 | c.496C>A (p.Pro166Thr) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.120626672C>A | CA414208466 | C1GALT1C1 | c.495G>T (p.Gln165His) | |
| X | g.120626672C= | CA2454930815 | C1GALT1C1 | c.495G= (p.Gln165=) | |
| X | g.120626672C>G | CA414208467 | C1GALT1C1 | c.495G>C (p.Gln165His) | |
| X | g.120626672C>T | CA518448280 | C1GALT1C1 | c.495G>A (p.Gln165=) | dbSNP gnomAD v4 |
| X | g.120626673T>A | CA414208469 | C1GALT1C1 | c.494A>T (p.Gln165Leu) | |
| X | g.120626673T>C | CA414208471 | C1GALT1C1 | c.494A>G (p.Gln165Arg) | |
| X | g.120626673T>G | CA414208473 | C1GALT1C1 | c.494A>C (p.Gln165Pro) | |
| X | g.120626674G>A | CA414208479 | C1GALT1C1 | c.493C>T (p.Gln165Ter) | |
| X | g.120626674G>C | CA414208477 | C1GALT1C1 | c.493C>G (p.Gln165Glu) | |
| X | g.120626674G>T | CA414208475 | C1GALT1C1 | c.493C>A (p.Gln165Lys) | |
| X | g.120626675T>A | CA518448283 | C1GALT1C1 | c.492A>T (p.Ser164=) | |
| X | g.120626675T>C | CA518448284 | C1GALT1C1 | c.492A>G (p.Ser164=) | |
| X | g.120626675T>G | CA518448285 | C1GALT1C1 | c.492A>C (p.Ser164=) | |
| X | g.120626676G>A | CA414208481 | C1GALT1C1 | c.491C>T (p.Ser164Leu) | |
| X | g.120626676G>C | CA414208483 | C1GALT1C1 | c.491C>G (p.Ser164Ter) | |
| X | g.120626676G>T | CA414208485 | C1GALT1C1 | c.491C>A (p.Ser164Ter) | |
| X | g.120626677A>C | CA414208487 | C1GALT1C1 | c.490T>G (p.Ser164Ala) | |
| X | g.120626677A>G | CA414208489 | C1GALT1C1 | c.490T>C (p.Ser164Pro) | |
| X | g.120626677A>T | CA414208491 | C1GALT1C1 | c.490T>A (p.Ser164Thr) | |
| X | g.120626678T>A | CA518448289 | C1GALT1C1 | c.489A>T (p.Pro163=) | |
| X | g.120626678T>C | CA518448291 | C1GALT1C1 | c.489A>G (p.Pro163=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.120626678T>G | CA518448292 | C1GALT1C1 | c.489A>C (p.Pro163=) | |
| X | g.120626678T= | CA2454930817 | C1GALT1C1 | c.489A= (p.Pro163=) | |
| X | g.120626679G>A | CA414208497 | C1GALT1C1 | c.488C>T (p.Pro163Leu) | |
| X | g.120626679G>C | CA414208493 | C1GALT1C1 | c.488C>G (p.Pro163Arg) | |
| X | g.120626679G>T | CA414208495 | C1GALT1C1 | c.488C>A (p.Pro163Gln) | |
| X | g.120626680G>A | CA414208499 | C1GALT1C1 | c.487C>T (p.Pro163Ser) | |
| X | g.120626680G>C | CA414208501 | C1GALT1C1 | c.487C>G (p.Pro163Ala) | gnomAD v4 |
| X | g.120626680G>T | CA414208503 | C1GALT1C1 | c.487C>A (p.Pro163Thr) | |
| X | g.120626681A>C | CA414208506 | C1GALT1C1 | c.486T>G (p.Asp162Glu) | |
| X | g.120626681A>G | CA518448296 | C1GALT1C1 | c.486T>C (p.Asp162=) | |
| X | g.120626681A>T | CA414208508 | C1GALT1C1 | c.486T>A (p.Asp162Glu) | |
| X | g.120626682T>A | CA414208510 | C1GALT1C1 | c.485A>T (p.Asp162Val) | |
| X | g.120626682T>C | CA414208514 | C1GALT1C1 | c.485A>G (p.Asp162Gly) | |
| X | g.120626682T>G | CA414208512 | C1GALT1C1 | c.485A>C (p.Asp162Ala) | |
| X | g.120626683C>A | CA414208516 | C1GALT1C1 | c.484G>T (p.Asp162Tyr) | |
| X | g.120626683C>G | CA414208518 | C1GALT1C1 | c.484G>C (p.Asp162His) | |
| X | g.120626683C>T | CA414208520 | C1GALT1C1 | c.484G>A (p.Asp162Asn) | COSMIC |
| X | g.120626684C>A | CA414208522 | C1GALT1C1 | c.483G>T (p.Lys161Asn) | COSMIC |
| X | g.120626684C>G | CA414208524 | C1GALT1C1 | c.483G>C (p.Lys161Asn) | |
| X | g.120626684C>T | CA518448301 | C1GALT1C1 | c.483G>A (p.Lys161=) | |
| X | g.120626685T>A | CA414208526 | C1GALT1C1 | c.482A>T (p.Lys161Met) | |
| X | g.120626685T>C | CA414208528 | C1GALT1C1 | c.482A>G (p.Lys161Arg) | |
| X | g.120626685T>G | CA414208530 | C1GALT1C1 | c.482A>C (p.Lys161Thr) | |
| X | g.120626685_120626690del | CA2823267473 | C1GALT1C1 | c.477_482del (p.Lys160_Lys161del) | |
| X | g.120626690dup | CA645614909 | C1GALT1C1 | c.482dup (p.Asp162GlyfsTer18) | COSMIC |
| X | g.120626690del | CA645614908 | C1GALT1C1 | c.482del (p.Lys161ArgfsTer9) | dbSNP gnomAD v4 COSMIC |
| X | g.120626685_120626686insA | CA518448307 | C1GALT1C1 | c.481_482insT (p.Lys161IlefsTer19) | |
| X | g.120626686T>A | CA414208533 | C1GALT1C1 | c.481A>T (p.Lys161Ter) | dbSNP |
| X | g.120626686T>C | CA414208534 | C1GALT1C1 | c.481A>G (p.Lys161Glu) | |
| X | g.120626686T>G | CA414208536 | C1GALT1C1 | c.481A>C (p.Lys161Gln) | |
| X | g.120626687T>A | CA414208540 | C1GALT1C1 | c.480A>T (p.Lys160Asn) | |
| X | g.120626687T>C | CA518448309 | C1GALT1C1 | c.480A>G (p.Lys160=) | |
| X | g.120626687T>G | CA414208538 | C1GALT1C1 | c.480A>C (p.Lys160Asn) | gnomAD v4 |
| X | g.120626688T>A | CA414208543 | C1GALT1C1 | c.479A>T (p.Lys160Ile) | |
| X | g.120626688T>C | CA414208544 | C1GALT1C1 | c.479A>G (p.Lys160Arg) | |
| X | g.120626688T>G | CA414208546 | C1GALT1C1 | c.479A>C (p.Lys160Thr) | |
| X | g.120626689T>A | CA414208549 | C1GALT1C1 | c.478A>T (p.Lys160Ter) | |
| X | g.120626689T>C | CA414208550 | C1GALT1C1 | c.478A>G (p.Lys160Glu) | |
| X | g.120626689T>G | CA414208552 | C1GALT1C1 | c.478A>C (p.Lys160Gln) | |
| X | g.120626690T>A | CA414208555 | C1GALT1C1 | c.477A>T (p.Leu159Phe) | |
| X | g.120626690T>C | CA518448316 | C1GALT1C1 | c.477A>G (p.Leu159=) | gnomAD v4 |
| X | g.120626690T>G | CA414208556 | C1GALT1C1 | c.477A>C (p.Leu159Phe) | |
| X | g.120626691A>C | CA414208557 | C1GALT1C1 | c.476T>G (p.Leu159Ter) | |
| X | g.120626691A>G | CA414208560 | C1GALT1C1 | c.476T>C (p.Leu159Ser) | |
| X | g.120626691A>T | CA414208559 | C1GALT1C1 | c.476T>A (p.Leu159Ter) | |
| X | g.120626691_120626699del | CA2823267474 | C1GALT1C1 | c.468_476del (p.Tyr156Ter) | |
| X | g.120626692A= | CA2454930820 | C1GALT1C1 | c.475T= (p.Leu159=) | |
| X | g.120626692A>C | CA414208563 | C1GALT1C1 | c.475T>G (p.Leu159Val) | |
| X | g.120626692A>G | CA10505959 | C1GALT1C1 | c.475T>C (p.Leu159=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.120626692A>T | CA414208566 | C1GALT1C1 | c.475T>A (p.Leu159Ile) | |
| X | g.120626693C>A | CA414208569 | C1GALT1C1 | c.474G>T (p.Leu158Phe) | |
| X | g.120626693C>G | CA414208570 | C1GALT1C1 | c.474G>C (p.Leu158Phe) | |
| X | g.120626693C>T | CA518448321 | C1GALT1C1 | c.474G>A (p.Leu158=) | |
| X | g.120626694A>C | CA414208572 | C1GALT1C1 | c.473T>G (p.Leu158Trp) | |
| X | g.120626694A>G | CA414208576 | C1GALT1C1 | c.473T>C (p.Leu158Ser) | |
| X | g.120626694A>T | CA414208574 | C1GALT1C1 | c.473T>A (p.Leu158Ter) | |
| X | g.120626699del | CA2694604442 | C1GALT1C1 | c.473del (p.Leu158CysfsTer2) | gnomAD v4 |
| X | g.120626695A>C | CA414208578 | C1GALT1C1 | c.472T>G (p.Leu158Val) | |
| X | g.120626695A>G | CA518448324 | C1GALT1C1 | c.472T>C (p.Leu158=) | |
| X | g.120626695A>T | CA414208580 | C1GALT1C1 | c.472T>A (p.Leu158Met) | |
| X | g.120626696A>C | CA414208582 | C1GALT1C1 | c.471T>G (p.Phe157Leu) | |
| X | g.120626696A>G | CA518448325 | C1GALT1C1 | c.471T>C (p.Phe157=) | |
| X | g.120626696A>T | CA414208584 | C1GALT1C1 | c.471T>A (p.Phe157Leu) | |
| X | g.120626697A>C | CA414208586 | C1GALT1C1 | c.470T>G (p.Phe157Cys) | |
| X | g.120626697A>G | CA414208588 | C1GALT1C1 | c.470T>C (p.Phe157Ser) | |
| X | g.120626697A>T | CA414208590 | C1GALT1C1 | c.470T>A (p.Phe157Tyr) | |
| X | g.120626698A>C | CA414208593 | C1GALT1C1 | c.469T>G (p.Phe157Val) | COSMIC |
| X | g.120626698A>G | CA414208594 | C1GALT1C1 | c.469T>C (p.Phe157Leu) | |
| X | g.120626698A>T | CA414208596 | C1GALT1C1 | c.469T>A (p.Phe157Ile) | |
| X | g.120626699A= | CA2454930823 | C1GALT1C1 | c.468T= (p.Tyr156=) | |
| X | g.120626699A>C | CA414208598 | C1GALT1C1 | c.468T>G (p.Tyr156Ter) | |
| X | g.120626699A>G | CA518448329 | C1GALT1C1 | c.468T>C (p.Tyr156=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120626699A>T | CA414208600 | C1GALT1C1 | c.468T>A (p.Tyr156Ter) | |
| X | g.120626700T>A | CA414208602 | C1GALT1C1 | c.467A>T (p.Tyr156Phe) | |
| X | g.120626700T>C | CA414208606 | C1GALT1C1 | c.467A>G (p.Tyr156Cys) | |
| X | g.120626700T>G | CA414208604 | C1GALT1C1 | c.467A>C (p.Tyr156Ser) | |
| X | g.120626700_120626701insTTTTTTTTT | CA2823267475 | C1GALT1C1 | c.467_468insAAAAAAAAA (p.Tyr156Ter) | |
| X | g.120626701A>C | CA414208609 | C1GALT1C1 | c.466T>G (p.Tyr156Asp) | |
| X | g.120626701A>G | CA414208610 | C1GALT1C1 | c.466T>C (p.Tyr156His) | |
| X | g.120626701A>T | CA414208612 | C1GALT1C1 | c.466T>A (p.Tyr156Asn) | |
| X | g.120626702C>A | CA414208614 | C1GALT1C1 | c.465G>T (p.Lys155Asn) | |
| X | g.120626702C>G | CA414208615 | C1GALT1C1 | c.465G>C (p.Lys155Asn) | |
| X | g.120626702C>T | CA518448337 | C1GALT1C1 | c.465G>A (p.Lys155=) | |
| X | g.120626703T>A | CA414208616 | C1GALT1C1 | c.464A>T (p.Lys155Met) | |
| X | g.120626703T>C | CA10505960 | C1GALT1C1 | c.464A>G (p.Lys155Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.120626703T>G | CA414208619 | C1GALT1C1 | c.464A>C (p.Lys155Thr) | |
| X | g.120626703T= | CA2454930825 | C1GALT1C1 | c.464A= (p.Lys155=) | |
| X | g.120626704T>A | CA414208621 | C1GALT1C1 | c.463A>T (p.Lys155Ter) | |
| X | g.120626704T>C | CA414208623 | C1GALT1C1 | c.463A>G (p.Lys155Glu) | |
| X | g.120626704T>G | CA414208625 | C1GALT1C1 | c.463A>C (p.Lys155Gln) | |
| X | g.120626705T>A | CA518448340 | C1GALT1C1 | c.462A>T (p.Leu154=) | |
| X | g.120626705T>C | CA10505961 | C1GALT1C1 | c.462A>G (p.Leu154=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.120626705T>G | CA518448344 | C1GALT1C1 | c.462A>C (p.Leu154=) | |
| X | g.120626705T= | CA2454930826 | C1GALT1C1 | c.462A= (p.Leu154=) | |
| X | g.120626706A>C | CA414208631 | C1GALT1C1 | c.461T>G (p.Leu154Arg) | |
| X | g.120626706A>G | CA414208630 | C1GALT1C1 | c.461T>C (p.Leu154Pro) | |
| X | g.120626706A>T | CA414208629 | C1GALT1C1 | c.461T>A (p.Leu154Gln) | |
| X | g.120626707G>A | CA518448347 | C1GALT1C1 | c.460C>T (p.Leu154=) | |
| X | g.120626707G>C | CA414208634 | C1GALT1C1 | c.460C>G (p.Leu154Val) | |
| X | g.120626707G>T | CA414208636 | C1GALT1C1 | c.460C>A (p.Leu154Ile) | |
| X | g.120626708G>A | CA518448350 | C1GALT1C1 | c.459C>T (p.Asn153=) | |
| X | g.120626708G>C | CA414208638 | C1GALT1C1 | c.459C>G (p.Asn153Lys) | |
| X | g.120626708G>T | CA414208640 | C1GALT1C1 | c.459C>A (p.Asn153Lys) | |
| X | g.120626709T>A | CA414208642 | C1GALT1C1 | c.458A>T (p.Asn153Ile) | |
| X | g.120626709T>C | CA414208644 | C1GALT1C1 | c.458A>G (p.Asn153Ser) | |
| X | g.120626709T>G | CA414208646 | C1GALT1C1 | c.458A>C (p.Asn153Thr) | |
| X | g.120626710T>A | CA414208648 | C1GALT1C1 | c.457A>T (p.Asn153Tyr) | |
| X | g.120626710T>C | CA414208650 | C1GALT1C1 | c.457A>G (p.Asn153Asp) | |
| X | g.120626710T>G | CA414208652 | C1GALT1C1 | c.457A>C (p.Asn153His) | |
| X | g.120626711T>A | CA414208653 | C1GALT1C1 | c.456A>T (p.Glu152Asp) | |
| X | g.120626711T>C | CA518448356 | C1GALT1C1 | c.456A>G (p.Glu152=) | |
| X | g.120626711T>G | CA414208656 | C1GALT1C1 | c.456A>C (p.Glu152Asp) | |
| X | g.120626712T>A | CA414208658 | C1GALT1C1 | c.455A>T (p.Glu152Val) | |
| X | g.120626712T>C | CA414208662 | C1GALT1C1 | c.455A>G (p.Glu152Gly) | |
| X | g.120626712T>G | CA414208660 | C1GALT1C1 | c.455A>C (p.Glu152Ala) | |
| X | g.120626713C>A | CA414208665 | C1GALT1C1 | c.454G>T (p.Glu152Ter) | |
| X | g.120626713C= | CA2454930830 | C1GALT1C1 | c.454G= (p.Glu152=) | |
| X | g.120626713C>G | CA414208667 | C1GALT1C1 | c.454G>C (p.Glu152Gln) | |
| X | g.120626713C>T | CA121175 | C1GALT1C1 | c.454G>A (p.Glu152Lys) | ClinVar dbSNP |