Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.40472165C>A | CA391768173 | CHST14 | c.952C>A (p.His318Asn) c.877C>A (p.His293Asn) | |
15 | g.40472165C>G | CA391768177 | CHST14 | c.952C>G (p.His318Asp) c.877C>G (p.His293Asp) | COSMIC |
15 | g.40472165C>T | CA391768175 | CHST14 | c.952C>T (p.His318Tyr) c.877C>T (p.His293Tyr) | COSMIC |
15 | g.40472166A= | CA2171795421 | CHST14 | c.953A= (p.His318=) c.878A= (p.His293=) | |
15 | g.40472166A>C | CA391768178 | CHST14 | c.953A>C (p.His318Pro) c.878A>C (p.His293Pro) | dbSNP |
15 | g.40472166A>G | CA391768180 | CHST14 | c.953A>G (p.His318Arg) c.878A>G (p.His293Arg) | |
15 | g.40472166A>T | CA391768179 | CHST14 | c.953A>T (p.His318Leu) c.878A>T (p.His293Leu) | |
15 | g.40472167C>A | CA391768181 | CHST14 | c.954C>A (p.His318Gln) c.879C>A (p.His293Gln) | gnomAD v4 |
15 | g.40472167C= | CA2171795422 | CHST14 | c.954C= (p.His318=) c.879C= (p.His293=) | |
15 | g.40472167C>G | CA391768182 | CHST14 | c.954C>G (p.His318Gln) c.879C>G (p.His293Gln) | dbSNP |
15 | g.40472167C>T | CA489975325 | CHST14 | c.954C>T (p.His318=) c.879C>T (p.His293=) | gnomAD v4 |
15 | g.40472168G>A | CA391768183 | CHST14 | c.955G>A (p.Val319Ile) c.880G>A (p.Val294Ile) | gnomAD v4 |
15 | g.40472168G>C | CA391768184 | CHST14 | c.955G>C (p.Val319Leu) c.880G>C (p.Val294Leu) | dbSNP gnomAD v4 |
15 | g.40472168G= | CA2171795423 | CHST14 | c.955G= (p.Val319=) c.880G= (p.Val294=) | |
15 | g.40472168G>T | CA391768186 | CHST14 | c.955G>T (p.Val319Phe) c.880G>T (p.Val294Phe) | |
15 | g.40472169T>A | CA391768189 | CHST14 | c.956T>A (p.Val319Asp) c.881T>A (p.Val294Asp) | |
15 | g.40472169T>C | CA391768191 | CHST14 | c.956T>C (p.Val319Ala) c.881T>C (p.Val294Ala) | |
15 | g.40472169T>G | CA391768192 | CHST14 | c.956T>G (p.Val319Gly) c.881T>G (p.Val294Gly) | |
15 | g.40472170C>A | CA489975329 | CHST14 | c.957C>A (p.Val319=) c.882C>A (p.Val294=) | |
15 | g.40472170C>G | CA489975330 | CHST14 | c.957C>G (p.Val319=) c.882C>G (p.Val294=) | |
15 | g.40472170C>T | CA489975331 | CHST14 | c.957C>T (p.Val319=) c.882C>T (p.Val294=) | |
15 | g.40472171C>A | CA489975332 | CHST14 | c.958C>A (p.Arg320=) c.883C>A (p.Arg295=) | |
15 | g.40472171C= | CA2171795424 | CHST14 | c.958C= (p.Arg320=) c.883C= (p.Arg295=) | |
15 | g.40472171C>G | CA391768193 | CHST14 | c.958C>G (p.Arg320Gly) c.883C>G (p.Arg295Gly) | gnomAD v4 |
15 | g.40472171C>T | CA391768194 | CHST14 | c.958C>T (p.Arg320Ter) c.883C>T (p.Arg295Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.40472172G>A | CA391768197 | CHST14 | c.959G>A (p.Arg320Gln) c.884G>A (p.Arg295Gln) | dbSNP |
15 | g.40472172G>C | CA391768201 | CHST14 | c.959G>C (p.Arg320Pro) c.884G>C (p.Arg295Pro) | |
15 | g.40472172G>T | CA391768206 | CHST14 | c.959G>T (p.Arg320Leu) c.884G>T (p.Arg295Leu) | |
15 | g.40472173A>C | CA489975333 | CHST14 | c.960A>C (p.Arg320=) c.885A>C (p.Arg295=) | |
15 | g.40472173A>G | CA489975336 | CHST14 | c.960A>G (p.Arg320=) c.885A>G (p.Arg295=) | |
15 | g.40472173A>T | CA489975334 | CHST14 | c.960A>T (p.Arg320=) c.885A>T (p.Arg295=) | |
15 | g.40472174T>A | CA391768217 | CHST14 | c.961T>A (p.Phe321Ile) c.886T>A (p.Phe296Ile) | |
15 | g.40472174T>C | CA391768213 | CHST14 | c.961T>C (p.Phe321Leu) c.886T>C (p.Phe296Leu) | gnomAD v4 |
15 | g.40472174T>G | CA391768211 | CHST14 | c.961T>G (p.Phe321Val) c.886T>G (p.Phe296Val) | |
15 | g.40472175T>A | CA391768221 | CHST14 | c.962T>A (p.Phe321Tyr) c.887T>A (p.Phe296Tyr) | |
15 | g.40472175T>C | CA391768222 | CHST14 | c.962T>C (p.Phe321Ser) c.887T>C (p.Phe296Ser) | |
15 | g.40472175T>G | CA391768225 | CHST14 | c.962T>G (p.Phe321Cys) c.887T>G (p.Phe296Cys) | |
15 | g.40472175T= | CA2171795425 | CHST14 | c.962T= (p.Phe321=) c.887T= (p.Phe296=) | |
15 | g.40472175_40472176insG | CA617557501 | CHST14 | c.962_963insG (p.Phe321LeufsTer?) c.887_888insG (p.Phe296LeufsTer?) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.40472176T>A | CA391768233 | CHST14 | c.963T>A (p.Phe321Leu) c.888T>A (p.Phe296Leu) | |
15 | g.40472176T>C | CA489975337 | CHST14 | c.963T>C (p.Phe321=) c.888T>C (p.Phe296=) | gnomAD v3 gnomAD v4 |
15 | g.40472176T>G | CA391768235 | CHST14 | c.963T>G (p.Phe321Leu) c.888T>G (p.Phe296Leu) | |
15 | g.40472177C>A | CA391768239 | CHST14 | c.964C>A (p.Pro322Thr) c.889C>A (p.Pro297Thr) | |
15 | g.40472177C>G | CA391768246 | CHST14 | c.964C>G (p.Pro322Ala) c.889C>G (p.Pro297Ala) | |
15 | g.40472177C>T | CA391768248 | CHST14 | c.964C>T (p.Pro322Ser) c.889C>T (p.Pro297Ser) | |
15 | g.40472178C>A | CA391768250 | CHST14 | c.965C>A (p.Pro322Gln) c.890C>A (p.Pro297Gln) | |
15 | g.40472178C= | CA2171795426 | CHST14 | c.965C= (p.Pro322=) c.890C= (p.Pro297=) | |
15 | g.40472178C>G | CA391768251 | CHST14 | c.965C>G (p.Pro322Arg) c.890C>G (p.Pro297Arg) | |
15 | g.40472178C>T | CA391768255 | CHST14 | c.965C>T (p.Pro322Leu) c.890C>T (p.Pro297Leu) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.40472179A>C | CA489975340 | CHST14 | c.966A>C (p.Pro322=) c.891A>C (p.Pro297=) | |
15 | g.40472179A>G | CA489975341 | CHST14 | c.966A>G (p.Pro322=) c.891A>G (p.Pro297=) | |
15 | g.40472179A>T | CA489975342 | CHST14 | c.966A>T (p.Pro322=) c.891A>T (p.Pro297=) | |
15 | g.40472180G>A | CA391768260 | CHST14 | c.967G>A (p.Ala323Thr) c.892G>A (p.Ala298Thr) | |
15 | g.40472180G>C | CA391768262 | CHST14 | c.967G>C (p.Ala323Pro) c.892G>C (p.Ala298Pro) | |
15 | g.40472180G>T | CA391768265 | CHST14 | c.967G>T (p.Ala323Ser) c.892G>T (p.Ala298Ser) | |
15 | g.40472181C>A | CA391768272 | CHST14 | c.968C>A (p.Ala323Asp) c.893C>A (p.Ala298Asp) | |
15 | g.40472181C>G | CA391768275 | CHST14 | c.968C>G (p.Ala323Gly) c.893C>G (p.Ala298Gly) | gnomAD v4 |
15 | g.40472181C>T | CA391768271 | CHST14 | c.968C>T (p.Ala323Val) c.893C>T (p.Ala298Val) | |
15 | g.40472182T>A | CA489975345 | CHST14 | c.969T>A (p.Ala323=) c.894T>A (p.Ala298=) | |
15 | g.40472182T>C | CA489975343 | CHST14 | c.969T>C (p.Ala323=) c.894T>C (p.Ala298=) | |
15 | g.40472182T>G | CA489975344 | CHST14 | c.969T>G (p.Ala323=) c.894T>G (p.Ala298=) | |
15 | g.40472183C>A | CA391768282 | CHST14 | c.970C>A (p.Arg324Ser) c.895C>A (p.Arg299Ser) | |
15 | g.40472183C= | CA2171795427 | CHST14 | c.970C= (p.Arg324=) c.895C= (p.Arg299=) | |
15 | g.40472183C>G | CA391768285 | CHST14 | c.970C>G (p.Arg324Gly) c.895C>G (p.Arg299Gly) | |
15 | g.40472183C>T | CA7481673 | CHST14 | c.970C>T (p.Arg324Cys) c.895C>T (p.Arg299Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.40472184G>A | CA7481674 | CHST14 | c.971G>A (p.Arg324His) c.896G>A (p.Arg299His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.40472184G>C | CA391768297 | CHST14 | c.971G>C (p.Arg324Pro) c.896G>C (p.Arg299Pro) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.40472184G= | CA2171795428 | CHST14 | c.971G= (p.Arg324=) c.896G= (p.Arg299=) | |
15 | g.40472184G>T | CA7481675 | CHST14 | c.971G>T (p.Arg324Leu) c.896G>T (p.Arg299Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.40472185C>A | CA489975349 | CHST14 | c.972C>A (p.Arg324=) c.897C>A (p.Arg299=) | |
15 | g.40472185C>G | CA489975350 | CHST14 | c.972C>G (p.Arg324=) c.897C>G (p.Arg299=) | |
15 | g.40472185C>T | CA489975351 | CHST14 | c.972C>T (p.Arg324=) c.897C>T (p.Arg299=) | |
15 | g.40472186C>A | CA391768312 | CHST14 | c.973C>A (p.Gln325Lys) c.898C>A (p.Gln300Lys) | |
15 | g.40472186C>G | CA391768303 | CHST14 | c.973C>G (p.Gln325Glu) c.898C>G (p.Gln300Glu) | |
15 | g.40472186C>T | CA391768309 | CHST14 | c.973C>T (p.Gln325Ter) c.898C>T (p.Gln300Ter) | |
15 | g.40472187A>C | CA391768315 | CHST14 | c.974A>C (p.Gln325Pro) c.899A>C (p.Gln300Pro) | |
15 | g.40472187A>G | CA391768318 | CHST14 | c.974A>G (p.Gln325Arg) c.899A>G (p.Gln300Arg) | |
15 | g.40472187A>T | CA391768319 | CHST14 | c.974A>T (p.Gln325Leu) c.899A>T (p.Gln300Leu) | |
15 | g.40472188G>A | CA489975353 | CHST14 | c.975G>A (p.Gln325=) c.900G>A (p.Gln300=) | gnomAD v4 |
15 | g.40472188G>C | CA391768323 | CHST14 | c.975G>C (p.Gln325His) c.900G>C (p.Gln300His) | |
15 | g.40472188G>T | CA391768326 | CHST14 | c.975G>T (p.Gln325His) c.900G>T (p.Gln300His) | gnomAD v4 |
15 | g.40472189G>A | CA391768327 | CHST14 | c.976G>A (p.Ala326Thr) c.901G>A (p.Ala301Thr) | gnomAD v4 |
15 | g.40472189G>C | CA391768329 | CHST14 | c.976G>C (p.Ala326Pro) c.901G>C (p.Ala301Pro) | |
15 | g.40472189G>T | CA391768328 | CHST14 | c.976G>T (p.Ala326Ser) c.901G>T (p.Ala301Ser) | |
15 | g.40472190_40472193dup | CA2695219941 | CHST14 | c.977_980dup (p.Trp327CysfsTer29) c.902_905dup (p.Trp302CysfsTer29) | |
15 | g.40472190C>A | CA391768330 | CHST14 | c.977C>A (p.Ala326Asp) c.902C>A (p.Ala301Asp) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.40472190C= | CA2171795429 | CHST14 | c.977C= (p.Ala326=) c.902C= (p.Ala301=) | |
15 | g.40472190C>G | CA391768331 | CHST14 | c.977C>G (p.Ala326Gly) c.902C>G (p.Ala301Gly) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.40472190C>T | CA391768332 | CHST14 | c.977C>T (p.Ala326Val) c.902C>T (p.Ala301Val) | ClinVar dbSNP |
15 | g.40472191C>A | CA489975355 | CHST14 | c.978C>A (p.Ala326=) c.903C>A (p.Ala301=) | |
15 | g.40472191C= | CA2171795430 | CHST14 | c.978C= (p.Ala326=) c.903C= (p.Ala301=) | |
15 | g.40472191C>G | CA489975356 | CHST14 | c.978C>G (p.Ala326=) c.903C>G (p.Ala301=) | |
15 | g.40472191C>T | CA7481676 | CHST14 | c.978C>T (p.Ala326=) c.903C>T (p.Ala301=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.40472192T>A | CA391768335 | CHST14 | c.979T>A (p.Trp327Arg) c.904T>A (p.Trp302Arg) | |
15 | g.40472192T>C | CA391768336 | CHST14 | c.979T>C (p.Trp327Arg) c.904T>C (p.Trp302Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.40472192T>G | CA391768340 | CHST14 | c.979T>G (p.Trp327Gly) c.904T>G (p.Trp302Gly) | |
15 | g.40472192T= | CA2171795431 | CHST14 | c.979T= (p.Trp327=) c.904T= (p.Trp302=) | |
15 | g.40472193G>A | CA391768343 | CHST14 | c.980G>A (p.Trp327Ter) c.905G>A (p.Trp302Ter) | |
15 | g.40472193G>C | CA391768347 | CHST14 | c.980G>C (p.Trp327Ser) c.905G>C (p.Trp302Ser) | gnomAD v4 |
15 | g.40472193G>T | CA391768361 | CHST14 | c.980G>T (p.Trp327Leu) c.905G>T (p.Trp302Leu) | |
15 | g.40472194_40472213dup | CA658653827 | CHST14 | c.981_1000dup (p.Glu334GlyfsTer?) c.906_925dup (p.Glu309GlyfsTer?) | ClinVar dbSNP |
15 | g.40472194G>A | CA391768366 | CHST14 | c.981G>A (p.Trp327Ter) c.906G>A (p.Trp302Ter) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.40472194G>C | CA391768371 | CHST14 | c.981G>C (p.Trp327Cys) c.906G>C (p.Trp302Cys) | |
15 | g.40472194G= | CA2171795432 | CHST14 | c.981G= (p.Trp327=) c.906G= (p.Trp302=) | |
15 | g.40472194G>T | CA7481677 | CHST14 | c.981G>T (p.Trp327Cys) c.906G>T (p.Trp302Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.40472195T>A | CA391768376 | CHST14 | c.982T>A (p.Tyr328Asn) c.907T>A (p.Tyr303Asn) | |
15 | g.40472195T>C | CA391768380 | CHST14 | c.982T>C (p.Tyr328His) c.907T>C (p.Tyr303His) | |
15 | g.40472195T>G | CA391768384 | CHST14 | c.982T>G (p.Tyr328Asp) c.907T>G (p.Tyr303Asp) | |
15 | g.40472196A= | CA2171795433 | CHST14 | c.983A= (p.Tyr328=) c.908A= (p.Tyr303=) | |
15 | g.40472196A>C | CA391768388 | CHST14 | c.983A>C (p.Tyr328Ser) c.908A>C (p.Tyr303Ser) | dbSNP |
15 | g.40472196A>G | CA391768389 | CHST14 | c.983A>G (p.Tyr328Cys) c.908A>G (p.Tyr303Cys) | |
15 | g.40472196A>T | CA391768392 | CHST14 | c.983A>T (p.Tyr328Phe) c.908A>T (p.Tyr303Phe) | |
15 | g.40472197C>A | CA391768395 | CHST14 | c.984C>A (p.Tyr328Ter) c.909C>A (p.Tyr303Ter) | |
15 | g.40472197C= | CA2171795434 | CHST14 | c.984C= (p.Tyr328=) c.909C= (p.Tyr303=) | |
15 | g.40472197C>G | CA7481678 | CHST14 | c.984C>G (p.Tyr328Ter) c.909C>G (p.Tyr303Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.40472197C>T | CA489975360 | CHST14 | c.984C>T (p.Tyr328=) c.909C>T (p.Tyr303=) | ClinVar dbSNP |
15 | g.40472198C>A | CA489975361 | CHST14 | c.985C>A (p.Arg329=) c.910C>A (p.Arg304=) | |
15 | g.40472198C= | CA2171795435 | CHST14 | c.985C= (p.Arg329=) c.910C= (p.Arg304=) | |
15 | g.40472198C>G | CA391768406 | CHST14 | c.985C>G (p.Arg329Gly) c.910C>G (p.Arg304Gly) | gnomAD v4 |
15 | g.40472198C>T | CA7481679 | CHST14 | c.985C>T (p.Arg329Trp) c.910C>T (p.Arg304Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.40472199G>A | CA7481680 | CHST14 | c.986G>A (p.Arg329Gln) c.911G>A (p.Arg304Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.40472199G>C | CA391768427 | CHST14 | c.986G>C (p.Arg329Pro) c.911G>C (p.Arg304Pro) | |
15 | g.40472199G= | CA2171795436 | CHST14 | c.986G= (p.Arg329=) c.911G= (p.Arg304=) | |
15 | g.40472199G>T | CA391768430 | CHST14 | c.986G>T (p.Arg329Leu) c.911G>T (p.Arg304Leu) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.40472200G>A | CA489975364 | CHST14 | c.987G>A (p.Arg329=) c.912G>A (p.Arg304=) | |
15 | g.40472200G>C | CA489975365 | CHST14 | c.987G>C (p.Arg329=) c.912G>C (p.Arg304=) | dbSNP |
15 | g.40472200G= | CA2171795437 | CHST14 | c.987G= (p.Arg329=) c.912G= (p.Arg304=) | |
15 | g.40472200G>T | CA489975366 | CHST14 | c.987G>T (p.Arg329=) c.912G>T (p.Arg304=) | |
15 | g.40472201C>A | CA391768434 | CHST14 | c.988C>A (p.Pro330Thr) c.913C>A (p.Pro305Thr) | |
15 | g.40472201C>G | CA391768433 | CHST14 | c.988C>G (p.Pro330Ala) c.913C>G (p.Pro305Ala) | |
15 | g.40472201C>T | CA391768432 | CHST14 | c.988C>T (p.Pro330Ser) c.913C>T (p.Pro305Ser) | |
15 | g.40472202C>A | CA391768435 | CHST14 | c.989C>A (p.Pro330Gln) c.914C>A (p.Pro305Gln) | |
15 | g.40472202C>G | CA391768436 | CHST14 | c.989C>G (p.Pro330Arg) c.914C>G (p.Pro305Arg) | |
15 | g.40472202C>T | CA391768437 | CHST14 | c.989C>T (p.Pro330Leu) c.914C>T (p.Pro305Leu) | |
15 | g.40472203A>C | CA489975370 | CHST14 | c.990A>C (p.Pro330=) c.915A>C (p.Pro305=) | |
15 | g.40472203A>G | CA489975368 | CHST14 | c.990A>G (p.Pro330=) c.915A>G (p.Pro305=) | |
15 | g.40472203A>T | CA489975369 | CHST14 | c.990A>T (p.Pro330=) c.915A>T (p.Pro305=) | |
15 | g.40472207_40472219del | CA2575679824 | CHST14 | c.994_1006del (p.Ser332CysfsTer?) c.919_931del (p.Ser307CysfsTer?) | gnomAD v4 |
15 | g.40472204G>A | CA391768439 | CHST14 | c.991G>A (p.Ala331Thr) c.916G>A (p.Ala306Thr) | gnomAD v4 |
15 | g.40472204G>C | CA391768441 | CHST14 | c.991G>C (p.Ala331Pro) c.916G>C (p.Ala306Pro) | |
15 | g.40472204G>T | CA391768442 | CHST14 | c.991G>T (p.Ala331Ser) c.916G>T (p.Ala306Ser) | |
15 | g.40472205C>A | CA391768450 | CHST14 | c.992C>A (p.Ala331Asp) c.917C>A (p.Ala306Asp) | |
15 | g.40472205C>G | CA391768453 | CHST14 | c.992C>G (p.Ala331Gly) c.917C>G (p.Ala306Gly) | ClinVar gnomAD v4 |
15 | g.40472205C>T | CA391768457 | CHST14 | c.992C>T (p.Ala331Val) c.917C>T (p.Ala306Val) | |
15 | g.40472206C>A | CA7481681 | CHST14 | c.993C>A (p.Ala331=) c.918C>A (p.Ala306=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.40472206C= | CA2171795438 | CHST14 | c.993C= (p.Ala331=) c.918C= (p.Ala306=) | |
15 | g.40472206C>G | CA489975373 | CHST14 | c.993C>G (p.Ala331=) c.918C>G (p.Ala306=) | |
15 | g.40472206C>T | CA489975375 | CHST14 | c.993C>T (p.Ala331=) c.918C>T (p.Ala306=) | |
15 | g.40472207A= | CA2171795439 | CHST14 | c.994A= (p.Ser332=) c.919A= (p.Ser307=) | |
15 | g.40472207A>C | CA391768465 | CHST14 | c.994A>C (p.Ser332Arg) c.919A>C (p.Ser307Arg) | dbSNP |
15 | g.40472207A>G | CA391768468 | CHST14 | c.994A>G (p.Ser332Gly) c.919A>G (p.Ser307Gly) | |
15 | g.40472207A>T | CA391768470 | CHST14 | c.994A>T (p.Ser332Cys) c.919A>T (p.Ser307Cys) | |
15 | g.40472208G>A | CA391768474 | CHST14 | c.995G>A (p.Ser332Asn) c.920G>A (p.Ser307Asn) | |
15 | g.40472208G>C | CA391768475 | CHST14 | c.995G>C (p.Ser332Thr) c.920G>C (p.Ser307Thr) | |
15 | g.40472208G>T | CA391768473 | CHST14 | c.995G>T (p.Ser332Ile) c.920G>T (p.Ser307Ile) | |
15 | g.40472209C>A | CA391768476 | CHST14 | c.996C>A (p.Ser332Arg) c.921C>A (p.Ser307Arg) | |
15 | g.40472209C= | CA2171795440 | CHST14 | c.996C= (p.Ser332=) c.921C= (p.Ser307=) | |
15 | g.40472209C>G | CA391768477 | CHST14 | c.996C>G (p.Ser332Arg) c.921C>G (p.Ser307Arg) | |
15 | g.40472209C>T | CA268823000 | CHST14 | c.996C>T (p.Ser332=) c.921C>T (p.Ser307=) | dbSNP |
15 | g.40472210C>A | CA391768480 | CHST14 | c.997C>A (p.Pro333Thr) c.922C>A (p.Pro308Thr) | dbSNP |
15 | g.40472210C= | CA2171795441 | CHST14 | c.997C= (p.Pro333=) c.922C= (p.Pro308=) | |
15 | g.40472210C>G | CA391768482 | CHST14 | c.997C>G (p.Pro333Ala) c.922C>G (p.Pro308Ala) | |
15 | g.40472210C>T | CA391768493 | CHST14 | c.997C>T (p.Pro333Ser) c.922C>T (p.Pro308Ser) | |
15 | g.40472211C>A | CA391768496 | CHST14 | c.998C>A (p.Pro333His) c.923C>A (p.Pro308His) | |
15 | g.40472211C>G | CA391768498 | CHST14 | c.998C>G (p.Pro333Arg) c.923C>G (p.Pro308Arg) | |
15 | g.40472211C>T | CA391768501 | CHST14 | c.998C>T (p.Pro333Leu) c.923C>T (p.Pro308Leu) | |
15 | g.40472212C>A | CA489975376 | CHST14 | c.999C>A (p.Pro333=) c.924C>A (p.Pro308=) | |
15 | g.40472212C= | CA2171795442 | CHST14 | c.999C= (p.Pro333=) c.924C= (p.Pro308=) | |
15 | g.40472212C>G | CA7481683 | CHST14 | c.999C>G (p.Pro333=) c.924C>G (p.Pro308=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.40472212C>T | CA7481682 | CHST14 | c.999C>T (p.Pro333=) c.924C>T (p.Pro308=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.40472213G>A | CA391768511 | CHST14 | c.1000G>A (p.Glu334Lys) c.925G>A (p.Glu309Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
15 | g.40472213G>C | CA391768514 | CHST14 | c.1000G>C (p.Glu334Gln) c.925G>C (p.Glu309Gln) | |
15 | g.40472213G= | CA2171795443 | CHST14 | c.1000G= (p.Glu334=) c.925G= (p.Glu309=) | |
15 | g.40472213G>T | CA391768519 | CHST14 | c.1000G>T (p.Glu334Ter) c.925G>T (p.Glu309Ter) | |
15 | g.40472214A>C | CA391768520 | CHST14 | c.1001A>C (p.Glu334Ala) c.926A>C (p.Glu309Ala) | |
15 | g.40472214A>G | CA391768523 | CHST14 | c.1001A>G (p.Glu334Gly) c.926A>G (p.Glu309Gly) | |
15 | g.40472214A>T | CA391768521 | CHST14 | c.1001A>T (p.Glu334Val) c.926A>T (p.Glu309Val) | |
15 | g.40472215A>C | CA391768525 | CHST14 | c.1002A>C (p.Glu334Asp) c.927A>C (p.Glu309Asp) | |
15 | g.40472215A>G | CA489975378 | CHST14 | c.1002A>G (p.Glu334=) c.927A>G (p.Glu309=) | |
15 | g.40472215A>T | CA391768527 | CHST14 | c.1002A>T (p.Glu334Asp) c.927A>T (p.Glu309Asp) | |
15 | g.40472216A>C | CA391768532 | CHST14 | c.1003A>C (p.Ser335Arg) c.928A>C (p.Ser310Arg) | |
15 | g.40472216A>G | CA391768534 | CHST14 | c.1003A>G (p.Ser335Gly) c.928A>G (p.Ser310Gly) | |
15 | g.40472216A>T | CA391768539 | CHST14 | c.1003A>T (p.Ser335Cys) c.928A>T (p.Ser310Cys) | |
15 | g.40472217G>A | CA391768540 | CHST14 | c.1004G>A (p.Ser335Asn) c.929G>A (p.Ser310Asn) | |
15 | g.40472217G>C | CA391768541 | CHST14 | c.1004G>C (p.Ser335Thr) c.929G>C (p.Ser310Thr) | |
15 | g.40472217G>T | CA391768542 | CHST14 | c.1004G>T (p.Ser335Ile) c.929G>T (p.Ser310Ile) | ClinVar gnomAD v4 |
15 | g.40472218C>A | CA391768543 | CHST14 | c.1005C>A (p.Ser335Arg) c.930C>A (p.Ser310Arg) | |
15 | g.40472218C= | CA2171795444 | CHST14 | c.1005C= (p.Ser335=) c.930C= (p.Ser310=) | |
15 | g.40472218C>G | CA391768544 | CHST14 | c.1005C>G (p.Ser335Arg) c.930C>G (p.Ser310Arg) | |
15 | g.40472218C>T | CA489975381 | CHST14 | c.1005C>T (p.Ser335=) c.930C>T (p.Ser310=) | dbSNP |
15 | g.40472219C>A | CA391768558 | CHST14 | c.1006C>A (p.Leu336Met) c.931C>A (p.Leu311Met) | |
15 | g.40472219C>G | CA391768547 | CHST14 | c.1006C>G (p.Leu336Val) c.931C>G (p.Leu311Val) | |
15 | g.40472219C>T | CA489975382 | CHST14 | c.1006C>T (p.Leu336=) c.931C>T (p.Leu311=) | |
15 | g.40472220T>A | CA391768565 | CHST14 | c.1007T>A (p.Leu336Gln) c.932T>A (p.Leu311Gln) | |
15 | g.40472220T>C | CA7481684 | CHST14 | c.1007T>C (p.Leu336Pro) c.932T>C (p.Leu311Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.40472220T>G | CA391768569 | CHST14 | c.1007T>G (p.Leu336Arg) c.932T>G (p.Leu311Arg) | |
15 | g.40472220T= | CA2171795445 | CHST14 | c.1007T= (p.Leu336=) c.932T= (p.Leu311=) | |
15 | g.40472221G>A | CA489975385 | CHST14 | c.1008G>A (p.Leu336=) c.933G>A (p.Leu311=) | |
15 | g.40472221G>C | CA489975386 | CHST14 | c.1008G>C (p.Leu336=) c.933G>C (p.Leu311=) | |
15 | g.40472221G>T | CA489975387 | CHST14 | c.1008G>T (p.Leu336=) c.933G>T (p.Leu311=) | |
15 | g.40472222C>A | CA391768573 | CHST14 | c.1009C>A (p.His337Asn) c.934C>A (p.His312Asn) | |
15 | g.40472222C>G | CA391768575 | CHST14 | c.1009C>G (p.His337Asp) c.934C>G (p.His312Asp) | |
15 | g.40472222C>T | CA391768574 | CHST14 | c.1009C>T (p.His337Tyr) c.934C>T (p.His312Tyr) | |
15 | g.40472223A= | CA2171795446 | CHST14 | c.1010A= (p.His337=) c.935A= (p.His312=) | |
15 | g.40472223A>C | CA391768576 | CHST14 | c.1010A>C (p.His337Pro) c.935A>C (p.His312Pro) | |
15 | g.40472223A>G | CA7481685 | CHST14 | c.1010A>G (p.His337Arg) c.935A>G (p.His312Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.40472223A>T | CA391768579 | CHST14 | c.1010A>T (p.His337Leu) c.935A>T (p.His312Leu) | |
15 | g.40472224T>A | CA391768582 | CHST14 | c.1011T>A (p.His337Gln) c.936T>A (p.His312Gln) | |
15 | g.40472224T>C | CA489975391 | CHST14 | c.1011T>C (p.His337=) c.936T>C (p.His312=) | |
15 | g.40472224T>G | CA391768586 | CHST14 | c.1011T>G (p.His337Gln) c.936T>G (p.His312Gln) | |
15 | g.40472225T>A | CA391768590 | CHST14 | c.1012T>A (p.Tyr338Asn) c.937T>A (p.Tyr313Asn) | |
15 | g.40472225T>C | CA391768593 | CHST14 | c.1012T>C (p.Tyr338His) c.937T>C (p.Tyr313His) | |
15 | g.40472225T>G | CA391768596 | CHST14 | c.1012T>G (p.Tyr338Asp) c.937T>G (p.Tyr313Asp) | |
15 | g.40472226A>C | CA391768599 | CHST14 | c.1013A>C (p.Tyr338Ser) c.938A>C (p.Tyr313Ser) | |
15 | g.40472226A>G | CA391768602 | CHST14 | c.1013A>G (p.Tyr338Cys) c.938A>G (p.Tyr313Cys) | |
15 | g.40472226A>T | CA391768605 | CHST14 | c.1013A>T (p.Tyr338Phe) c.938A>T (p.Tyr313Phe) | |
15 | g.40472227C>A | CA391768608 | CHST14 | c.1014C>A (p.Tyr338Ter) c.939C>A (p.Tyr313Ter) | |
15 | g.40472227C= | CA2171795447 | CHST14 | c.1014C= (p.Tyr338=) c.939C= (p.Tyr313=) | |
15 | g.40472227C>G | CA391768611 | CHST14 | c.1014C>G (p.Tyr338Ter) c.939C>G (p.Tyr313Ter) | |
15 | g.40472227C>T | CA489975395 | CHST14 | c.1014C>T (p.Tyr338=) c.939C>T (p.Tyr313=) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.40472228C>A | CA391768615 | CHST14 | c.1015C>A (p.His339Asn) c.940C>A (p.His314Asn) | |
15 | g.40472228C>G | CA391768617 | CHST14 | c.1015C>G (p.His339Asp) c.940C>G (p.His314Asp) | |
15 | g.40472228C>T | CA391768618 | CHST14 | c.1015C>T (p.His339Tyr) c.940C>T (p.His314Tyr) | |
15 | g.40472229A= | CA2171795448 | CHST14 | c.1016A= (p.His339=) c.941A= (p.His314=) | |
15 | g.40472229A>C | CA391768625 | CHST14 | c.1016A>C (p.His339Pro) c.941A>C (p.His314Pro) | dbSNP |
15 | g.40472229A>G | CA391768629 | CHST14 | c.1016A>G (p.His339Arg) c.941A>G (p.His314Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.40472229A>T | CA391768634 | CHST14 | c.1016A>T (p.His339Leu) c.941A>T (p.His314Leu) | dbSNP gnomAD v4 |
15 | g.40472230C>A | CA391768637 | CHST14 | c.1017C>A (p.His339Gln) c.942C>A (p.His314Gln) | COSMIC |
15 | g.40472230C>G | CA391768639 | CHST14 | c.1017C>G (p.His339Gln) c.942C>G (p.His314Gln) | |
15 | g.40472230C>T | CA489975397 | CHST14 | c.1017C>T (p.His339=) c.942C>T (p.His314=) | |
15 | g.40472231T>A | CA391768643 | CHST14 | c.1018T>A (p.Leu340Met) c.943T>A (p.Leu315Met) | |
15 | g.40472231T>C | CA489975401 | CHST14 | c.1018T>C (p.Leu340=) c.943T>C (p.Leu315=) | gnomAD v4 |
15 | g.40472231T>G | CA391768645 | CHST14 | c.1018T>G (p.Leu340Val) c.943T>G (p.Leu315Val) | |
15 | g.40472232T>A | CA391768650 | CHST14 | c.1019T>A (p.Leu340Ter) c.944T>A (p.Leu315Ter) | |
15 | g.40472232T>C | CA391768652 | CHST14 | c.1019T>C (p.Leu340Ser) c.944T>C (p.Leu315Ser) | ClinVar |
15 | g.40472232T>G | CA391768647 | CHST14 | c.1019T>G (p.Leu340Trp) c.944T>G (p.Leu315Trp) | |
15 | g.40472233G>A | CA489975402 | CHST14 | c.1020G>A (p.Leu340=) c.945G>A (p.Leu315=) | |
15 | g.40472233G>C | CA391768657 | CHST14 | c.1020G>C (p.Leu340Phe) c.945G>C (p.Leu315Phe) | gnomAD v4 |
15 | g.40472233G>T | CA391768660 | CHST14 | c.1020G>T (p.Leu340Phe) c.945G>T (p.Leu315Phe) | gnomAD v4 |
15 | g.40472234T>A | CA391768663 | CHST14 | c.1021T>A (p.Cys341Ser) c.946T>A (p.Cys316Ser) | |
15 | g.40472234T>C | CA391768664 | CHST14 | c.1021T>C (p.Cys341Arg) c.946T>C (p.Cys316Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.40472234T>G | CA391768667 | CHST14 | c.1021T>G (p.Cys341Gly) c.946T>G (p.Cys316Gly) | |
15 | g.40472234T= | CA2171795449 | CHST14 | c.1021T= (p.Cys341=) c.946T= (p.Cys316=) | |
15 | g.40472235G>A | CA391768673 | CHST14 | c.1022G>A (p.Cys341Tyr) c.947G>A (p.Cys316Tyr) | |
15 | g.40472235G>C | CA391768669 | CHST14 | c.1022G>C (p.Cys341Ser) c.947G>C (p.Cys316Ser) | |
15 | g.40472235G>T | CA391768671 | CHST14 | c.1022G>T (p.Cys341Phe) c.947G>T (p.Cys316Phe) | |
15 | g.40472235dup | CA489975406 | CHST14 | c.1022dup (p.Cys341TrpfsTer14) c.947dup (p.Cys316TrpfsTer14) | |
15 | g.40472236C>A | CA391768675 | CHST14 | c.1023C>A (p.Cys341Ter) c.948C>A (p.Cys316Ter) | |
15 | g.40472236C>G | CA391768678 | CHST14 | c.1023C>G (p.Cys341Trp) c.948C>G (p.Cys316Trp) | |
15 | g.40472236C>T | CA489975409 | CHST14 | c.1023C>T (p.Cys341=) c.948C>T (p.Cys316=) | |
15 | g.40472237A= | CA2171795450 | CHST14 | c.1024A= (p.Ser342=) c.949A= (p.Ser317=) | |
15 | g.40472237A>C | CA391768680 | CHST14 | c.1024A>C (p.Ser342Arg) c.949A>C (p.Ser317Arg) | |
15 | g.40472237A>G | CA7481686 | CHST14 | c.1024A>G (p.Ser342Gly) c.949A>G (p.Ser317Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.40472237A>T | CA391768684 | CHST14 | c.1024A>T (p.Ser342Cys) c.949A>T (p.Ser317Cys) | |
15 | g.40472238G>A | CA391768688 | CHST14 | c.1025G>A (p.Ser342Asn) c.950G>A (p.Ser317Asn) | |
15 | g.40472238G>C | CA391768696 | CHST14 | c.1025G>C (p.Ser342Thr) c.950G>C (p.Ser317Thr) | |
15 | g.40472238G>T | CA391768694 | CHST14 | c.1025G>T (p.Ser342Ile) c.950G>T (p.Ser317Ile) | |
15 | g.40472239T>A | CA391768697 | CHST14 | c.1026T>A (p.Ser342Arg) c.951T>A (p.Ser317Arg) | |
15 | g.40472239T>C | CA489975410 | CHST14 | c.1026T>C (p.Ser342=) c.951T>C (p.Ser317=) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.40472239T>G | CA391768698 | CHST14 | c.1026T>G (p.Ser342Arg) c.951T>G (p.Ser317Arg) | |
15 | g.40472239T= | CA2171795451 | CHST14 | c.1026T= (p.Ser342=) c.951T= (p.Ser317=) | |
15 | g.40472240G>A | CA391768700 | CHST14 | c.1027G>A (p.Ala343Thr) c.952G>A (p.Ala318Thr) | gnomAD v4 |
15 | g.40472240G>C | CA391768701 | CHST14 | c.1027G>C (p.Ala343Pro) c.952G>C (p.Ala318Pro) | |
15 | g.40472240G>T | CA391768703 | CHST14 | c.1027G>T (p.Ala343Ser) c.952G>T (p.Ala318Ser) | |
15 | g.40472240_40472241delinsGC | CA2171795452 | CHST14 | c.1027_1028delinsGC (p.Ala343=) c.952_953delinsGC (p.Ala318=) | |
15 | g.40472241C>A | CA391768705 | CHST14 | c.1028C>A (p.Ala343Asp) c.953C>A (p.Ala318Asp) | |
15 | g.40472241C= | CA2171795454 | CHST14 | c.1028C= (p.Ala343=) c.953C= (p.Ala318=) | |
15 | g.40472241C>G | CA7481688 | CHST14 | c.1028C>G (p.Ala343Gly) c.953C>G (p.Ala318Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.40472241C>T | CA391768708 | CHST14 | c.1028C>T (p.Ala343Val) c.953C>T (p.Ala318Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.40472246dup | CA7481687 | CHST14 | c.1033dup (p.Arg345ProfsTer10) c.958dup (p.Arg320ProfsTer10) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.40472246del | CA2171795453 | CHST14 | c.1033del (p.Arg345GlyfsTer?) c.958del (p.Arg320GlyfsTer?) | ClinVar dbSNP gnomAD v4 |
15 | g.40472242C>A | CA489975412 | CHST14 | c.1029C>A (p.Ala343=) c.954C>A (p.Ala318=) | gnomAD v4 |
15 | g.40472242C>G | CA489975413 | CHST14 | c.1029C>G (p.Ala343=) c.954C>G (p.Ala318=) | |
15 | g.40472242C>T | CA489975414 | CHST14 | c.1029C>T (p.Ala343=) c.954C>T (p.Ala318=) | gnomAD v4 |
15 | g.40472243C>A | CA391768710 | CHST14 | c.1030C>A (p.Pro344Thr) c.955C>A (p.Pro319Thr) | |
15 | g.40472243C>G | CA391768713 | CHST14 | c.1030C>G (p.Pro344Ala) c.955C>G (p.Pro319Ala) | |
15 | g.40472243C>T | CA391768715 | CHST14 | c.1030C>T (p.Pro344Ser) c.955C>T (p.Pro319Ser) | gnomAD v4 |
15 | g.40472244C>A | CA391768719 | CHST14 | c.1031C>A (p.Pro344His) c.956C>A (p.Pro319His) | |
15 | g.40472244C>G | CA391768722 | CHST14 | c.1031C>G (p.Pro344Arg) c.956C>G (p.Pro319Arg) | gnomAD v4 |
15 | g.40472244C>T | CA391768716 | CHST14 | c.1031C>T (p.Pro344Leu) c.956C>T (p.Pro319Leu) | |
15 | g.40472245C>A | CA489975420 | CHST14 | c.1032C>A (p.Pro344=) c.957C>A (p.Pro319=) | |
15 | g.40472245C>G | CA489975419 | CHST14 | c.1032C>G (p.Pro344=) c.957C>G (p.Pro319=) | |
15 | g.40472245C>T | CA489975418 | CHST14 | c.1032C>T (p.Pro344=) c.957C>T (p.Pro319=) | |
15 | g.40472246C>A | CA489975421 | CHST14 | c.1033C>A (p.Arg345=) c.958C>A (p.Arg320=) | |
15 | g.40472246C= | CA2171795455 | CHST14 | c.1033C= (p.Arg345=) c.958C= (p.Arg320=) | |
15 | g.40472246C>G | CA7481689 | CHST14 | c.1033C>G (p.Arg345Gly) c.958C>G (p.Arg320Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.40472246C>T | CA7481690 | CHST14 | c.1033C>T (p.Arg345Trp) c.958C>T (p.Arg320Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.40472247G>A | CA268823032 | CHST14 | c.1034G>A (p.Arg345Gln) c.959G>A (p.Arg320Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.40472247G>C | CA391768730 | CHST14 | c.1034G>C (p.Arg345Pro) c.959G>C (p.Arg320Pro) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.40472247G= | CA2171795456 | CHST14 | c.1034G= (p.Arg345=) c.959G= (p.Arg320=) | |
15 | g.40472247G>T | CA391768732 | CHST14 | c.1034G>T (p.Arg345Leu) c.959G>T (p.Arg320Leu) | |
15 | g.40472249dup | CA2627824992 | CHST14 | c.1036dup (p.Ala346GlyfsTer9) c.961dup (p.Ala321GlyfsTer9) | gnomAD v4 |
15 | g.40472248G>A | CA489975425 | CHST14 | c.1035G>A (p.Arg345=) c.960G>A (p.Arg320=) | dbSNP |
15 | g.40472248G>C | CA489975426 | CHST14 | c.1035G>C (p.Arg345=) c.960G>C (p.Arg320=) | |
15 | g.40472248G>T | CA489975427 | CHST14 | c.1035G>T (p.Arg345=) c.960G>T (p.Arg320=) | |
15 | g.40472249G>A | CA391768733 | CHST14 | c.1036G>A (p.Ala346Thr) c.961G>A (p.Ala321Thr) | gnomAD v4 |
15 | g.40472249G>C | CA7481691 | CHST14 | c.1036G>C (p.Ala346Pro) c.961G>C (p.Ala321Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.40472249G= | CA2171795457 | CHST14 | c.1036G= (p.Ala346=) c.961G= (p.Ala321=) | |
15 | g.40472249G>T | CA391768736 | CHST14 | c.1036G>T (p.Ala346Ser) c.961G>T (p.Ala321Ser) | |
15 | g.40472250C>A | CA391768739 | CHST14 | c.1037C>A (p.Ala346Asp) c.962C>A (p.Ala321Asp) | |
15 | g.40472250C>G | CA391768741 | CHST14 | c.1037C>G (p.Ala346Gly) c.962C>G (p.Ala321Gly) | gnomAD v4 |
15 | g.40472250C>T | CA391768745 | CHST14 | c.1037C>T (p.Ala346Val) c.962C>T (p.Ala321Val) | |
15 | g.40472251C>A | CA268823035 | CHST14 | c.1038C>A (p.Ala346=) c.963C>A (p.Ala321=) | dbSNP |
15 | g.40472251C= | CA2171795458 | CHST14 | c.1038C= (p.Ala346=) c.963C= (p.Ala321=) | |
15 | g.40472251C>G | CA489975431 | CHST14 | c.1038C>G (p.Ala346=) c.963C>G (p.Ala321=) | |
15 | g.40472251C>T | CA489975429 | CHST14 | c.1038C>T (p.Ala346=) c.963C>T (p.Ala321=) | ClinVar |
15 | g.40472252C>A | CA391768747 | CHST14 | c.1039C>A (p.Leu347Met) c.964C>A (p.Leu322Met) | |
15 | g.40472252C>G | CA391768748 | CHST14 | c.1039C>G (p.Leu347Val) c.964C>G (p.Leu322Val) | |
15 | g.40472252C>T | CA489975434 | CHST14 | c.1039C>T (p.Leu347=) c.964C>T (p.Leu322=) | |
15 | g.40472253T>A | CA391768751 | CHST14 | c.1040T>A (p.Leu347Gln) c.965T>A (p.Leu322Gln) | |
15 | g.40472253T>C | CA391768753 | CHST14 | c.1040T>C (p.Leu347Pro) c.965T>C (p.Leu322Pro) | gnomAD v4 |
15 | g.40472253T>G | CA391768749 | CHST14 | c.1040T>G (p.Leu347Arg) c.965T>G (p.Leu322Arg) | |
15 | g.40472254G>A | CA489975435 | CHST14 | c.1041G>A (p.Leu347=) c.966G>A (p.Leu322=) | gnomAD v4 |
15 | g.40472254G>C | CA489975436 | CHST14 | c.1041G>C (p.Leu347=) c.966G>C (p.Leu322=) | gnomAD v4 |
15 | g.40472254G>T | CA489975438 | CHST14 | c.1041G>T (p.Leu347=) c.966G>T (p.Leu322=) | |
15 | g.40472255C>A | CA391768755 | CHST14 | c.1042C>A (p.Leu348Met) c.967C>A (p.Leu323Met) | |
15 | g.40472255C>G | CA391768758 | CHST14 | c.1042C>G (p.Leu348Val) c.967C>G (p.Leu323Val) | |
15 | g.40472255C>T | CA489975439 | CHST14 | c.1042C>T (p.Leu348=) c.967C>T (p.Leu323=) | |
15 | g.40472256T>A | CA391768760 | CHST14 | c.1043T>A (p.Leu348Gln) c.968T>A (p.Leu323Gln) | |
15 | g.40472256T>C | CA391768763 | CHST14 | c.1043T>C (p.Leu348Pro) c.968T>C (p.Leu323Pro) | |
15 | g.40472256T>G | CA391768765 | CHST14 | c.1043T>G (p.Leu348Arg) c.968T>G (p.Leu323Arg) | gnomAD v4 |
15 | g.40472257G>A | CA489975440 | CHST14 | c.1044G>A (p.Leu348=) c.969G>A (p.Leu323=) | dbSNP |
15 | g.40472257G>C | CA489975441 | CHST14 | c.1044G>C (p.Leu348=) c.969G>C (p.Leu323=) | |
15 | g.40472257G>T | CA489975443 | CHST14 | c.1044G>T (p.Leu348=) c.969G>T (p.Leu323=) | |
15 | g.40472258C>A | CA391768772 | CHST14 | c.1045C>A (p.Gln349Lys) c.970C>A (p.Gln324Lys) | |
15 | g.40472258C>G | CA391768767 | CHST14 | c.1045C>G (p.Gln349Glu) c.970C>G (p.Gln324Glu) | |
15 | g.40472258C>T | CA391768769 | CHST14 | c.1045C>T (p.Gln349Ter) c.970C>T (p.Gln324Ter) | |
15 | g.40472259A= | CA2171795459 | CHST14 | c.1046A= (p.Gln349=) c.971A= (p.Gln324=) | |
15 | g.40472259A>C | CA391768780 | CHST14 | c.1046A>C (p.Gln349Pro) c.971A>C (p.Gln324Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.40472259A>G | CA391768782 | CHST14 | c.1046A>G (p.Gln349Arg) c.971A>G (p.Gln324Arg) | |
15 | g.40472259A>T | CA391768783 | CHST14 | c.1046A>T (p.Gln349Leu) c.971A>T (p.Gln324Leu) | ClinVar gnomAD v4 |
15 | g.40472260G>A | CA489975448 | CHST14 | c.1047G>A (p.Gln349=) c.972G>A (p.Gln324=) | |
15 | g.40472260G>C | CA7481692 | CHST14 | c.1047G>C (p.Gln349His) c.972G>C (p.Gln324His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.40472260G= | CA2171795460 | CHST14 | c.1047G= (p.Gln349=) c.972G= (p.Gln324=) | |
15 | g.40472260G>T | CA391768787 | CHST14 | c.1047G>T (p.Gln349His) c.972G>T (p.Gln324His) | |
15 | g.40472261G>A | CA391768793 | CHST14 | c.1048G>A (p.Asp350Asn) c.973G>A (p.Asp325Asn) | |
15 | g.40472261G>C | CA391768791 | CHST14 | c.1048G>C (p.Asp350His) c.973G>C (p.Asp325His) | |
15 | g.40472261G>T | CA391768789 | CHST14 | c.1048G>T (p.Asp350Tyr) c.973G>T (p.Asp325Tyr) | gnomAD v4 |
15 | g.40472262A>C | CA391768795 | CHST14 | c.1049A>C (p.Asp350Ala) c.974A>C (p.Asp325Ala) | |
15 | g.40472262A>G | CA391768798 | CHST14 | c.1049A>G (p.Asp350Gly) c.974A>G (p.Asp325Gly) | |
15 | g.40472262A>T | CA391768801 | CHST14 | c.1049A>T (p.Asp350Val) c.974A>T (p.Asp325Val) | |
15 | g.40472263T>A | CA391768804 | CHST14 | c.1050T>A (p.Asp350Glu) c.975T>A (p.Asp325Glu) | |
15 | g.40472263T>C | CA489975452 | CHST14 | c.1050T>C (p.Asp350=) c.975T>C (p.Asp325=) | |
15 | g.40472263T>G | CA391768806 | CHST14 | c.1050T>G (p.Asp350Glu) c.975T>G (p.Asp325Glu) | |
15 | g.40472264G>A | CA391768815 | CHST14 | c.1051G>A (p.Val351Met) c.976G>A (p.Val326Met) | gnomAD v4 |
15 | g.40472264G>C | CA391768812 | CHST14 | c.1051G>C (p.Val351Leu) c.976G>C (p.Val326Leu) | |
15 | g.40472264G>T | CA391768810 | CHST14 | c.1051G>T (p.Val351Leu) c.976G>T (p.Val326Leu) | |
15 | g.40472265T>A | CA391768818 | CHST14 | c.1052T>A (p.Val351Glu) c.977T>A (p.Val326Glu) | |
15 | g.40472265T>C | CA391768819 | CHST14 | c.1052T>C (p.Val351Ala) c.977T>C (p.Val326Ala) | |
15 | g.40472265T>G | CA391768822 | CHST14 | c.1052T>G (p.Val351Gly) c.977T>G (p.Val326Gly) |