OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.40471900G>A | CA489975263 | CHST14 | c.687G>A (p.Glu229=) c.612G>A (p.Glu204=) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.40471900G>C | CA391766665 | CHST14 | c.687G>C (p.Glu229Asp) c.612G>C (p.Glu204Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40471900G= | CA2171795306 | CHST14 | c.687G= (p.Glu229=) c.612G= (p.Glu204=) | |
| 15 | g.40471900G>T | CA7481631 | CHST14 | c.687G>T (p.Glu229Asp) c.612G>T (p.Glu204Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 15 | g.40471900_40471902del | CA2627824988 | CHST14 | c.687_689del (p.Glu229_Ile230delinsAsp) c.612_614del (p.Glu204_Ile205delinsAsp) | gnomAD v4 |
| 15 | g.40471901A= | CA2171795307 | CHST14 | c.688A= (p.Ile230=) c.613A= (p.Ile205=) | |
| 15 | g.40471901A>C | CA391766667 | CHST14 | c.688A>C (p.Ile230Leu) c.613A>C (p.Ile205Leu) | |
| 15 | g.40471901A>G | CA391766668 | CHST14 | c.688A>G (p.Ile230Val) c.613A>G (p.Ile205Val) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.40471901A>T | CA391766670 | CHST14 | c.688A>T (p.Ile230Phe) c.613A>T (p.Ile205Phe) | |
| 15 | g.40471902T>A | CA391766672 | CHST14 | c.689T>A (p.Ile230Asn) c.614T>A (p.Ile205Asn) | |
| 15 | g.40471902T>C | CA391766673 | CHST14 | c.689T>C (p.Ile230Thr) c.614T>C (p.Ile205Thr) | |
| 15 | g.40471902T>G | CA391766674 | CHST14 | c.689T>G (p.Ile230Ser) c.614T>G (p.Ile205Ser) | |
| 15 | g.40471903C>A | CA268822662 | CHST14 | c.690C>A (p.Ile230=) c.615C>A (p.Ile205=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40471903C= | CA2171795308 | CHST14 | c.690C= (p.Ile230=) c.615C= (p.Ile205=) | |
| 15 | g.40471903C>G | CA391766676 | CHST14 | c.690C>G (p.Ile230Met) c.615C>G (p.Ile205Met) | |
| 15 | g.40471903C>T | CA489975269 | CHST14 | c.690C>T (p.Ile230=) c.615C>T (p.Ile205=) | gnomAD v4 |
| 15 | g.40471904C>A | CA489975271 | CHST14 | c.691C>A (p.Arg231=) c.616C>A (p.Arg206=) | |
| 15 | g.40471904C>G | CA391766678 | CHST14 | c.691C>G (p.Arg231Gly) c.616C>G (p.Arg206Gly) | ClinVar COSMIC |
| 15 | g.40471904C>T | CA391766679 | CHST14 | c.691C>T (p.Arg231Ter) c.616C>T (p.Arg206Ter) | |
| 15 | g.40471905G>A | CA7481633 | CHST14 | c.692G>A (p.Arg231Gln) c.617G>A (p.Arg206Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 15 | g.40471905G>C | CA7481632 | CHST14 | c.692G>C (p.Arg231Pro) c.617G>C (p.Arg206Pro) | dbSNP ExAC gnomAD v2 |
| 15 | g.40471905G= | CA2171795309 | CHST14 | c.692G= (p.Arg231=) c.617G= (p.Arg206=) | |
| 15 | g.40471905G>T | CA391766682 | CHST14 | c.692G>T (p.Arg231Leu) c.617G>T (p.Arg206Leu) | dbSNP |
| 15 | g.40471906A= | CA2171795310 | CHST14 | c.693A= (p.Arg231=) c.618A= (p.Arg206=) | |
| 15 | g.40471906A>C | CA489975272 | CHST14 | c.693A>C (p.Arg231=) c.618A>C (p.Arg206=) | |
| 15 | g.40471906A>G | CA489975273 | CHST14 | c.693A>G (p.Arg231=) c.618A>G (p.Arg206=) | |
| 15 | g.40471906A>T | CA489975274 | CHST14 | c.693A>T (p.Arg231=) c.618A>T (p.Arg206=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40471907G>A | CA391766683 | CHST14 | c.694G>A (p.Glu232Lys) c.619G>A (p.Glu207Lys) | gnomAD v4 |
| 15 | g.40471907G>C | CA391766685 | CHST14 | c.694G>C (p.Glu232Gln) c.619G>C (p.Glu207Gln) | |
| 15 | g.40471907G>T | CA391766686 | CHST14 | c.694G>T (p.Glu232Ter) c.619G>T (p.Glu207Ter) | |
| 15 | g.40471908A>C | CA391766687 | CHST14 | c.695A>C (p.Glu232Ala) c.620A>C (p.Glu207Ala) | |
| 15 | g.40471908A>G | CA391766688 | CHST14 | c.695A>G (p.Glu232Gly) c.620A>G (p.Glu207Gly) | |
| 15 | g.40471908A>T | CA391766689 | CHST14 | c.695A>T (p.Glu232Val) c.620A>T (p.Glu207Val) | |
| 15 | g.40471909G>A | CA489975279 | CHST14 | c.696G>A (p.Glu232=) c.621G>A (p.Glu207=) | |
| 15 | g.40471909G>C | CA391766690 | CHST14 | c.696G>C (p.Glu232Asp) c.621G>C (p.Glu207Asp) | gnomAD v4 |
| 15 | g.40471909G>T | CA391766691 | CHST14 | c.696G>T (p.Glu232Asp) c.621G>T (p.Glu207Asp) | |
| 15 | g.40471910T>A | CA391766695 | CHST14 | c.697T>A (p.Tyr233Asn) c.622T>A (p.Tyr208Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.40471910T>C | CA391766696 | CHST14 | c.697T>C (p.Tyr233His) c.622T>C (p.Tyr208His) | |
| 15 | g.40471910T>G | CA391766694 | CHST14 | c.697T>G (p.Tyr233Asp) c.622T>G (p.Tyr208Asp) | |
| 15 | g.40471910T= | CA2171795311 | CHST14 | c.697T= (p.Tyr233=) c.622T= (p.Tyr208=) | |
| 15 | g.40471911A>C | CA391766697 | CHST14 | c.698A>C (p.Tyr233Ser) c.623A>C (p.Tyr208Ser) | |
| 15 | g.40471911A>G | CA391766698 | CHST14 | c.698A>G (p.Tyr233Cys) c.623A>G (p.Tyr208Cys) | |
| 15 | g.40471911A>T | CA391766699 | CHST14 | c.698A>T (p.Tyr233Phe) c.623A>T (p.Tyr208Phe) | |
| 15 | g.40471912C>A | CA391766701 | CHST14 | c.699C>A (p.Tyr233Ter) c.624C>A (p.Tyr208Ter) | |
| 15 | g.40471912C>G | CA391766702 | CHST14 | c.699C>G (p.Tyr233Ter) c.624C>G (p.Tyr208Ter) | |
| 15 | g.40471912C>T | CA489975284 | CHST14 | c.699C>T (p.Tyr233=) c.624C>T (p.Tyr208=) | |
| 15 | g.40471913C>A | CA391766704 | CHST14 | c.700C>A (p.Gln234Lys) c.625C>A (p.Gln209Lys) | |
| 15 | g.40471913C>G | CA391766705 | CHST14 | c.700C>G (p.Gln234Glu) c.625C>G (p.Gln209Glu) | |
| 15 | g.40471913C>T | CA391766707 | CHST14 | c.700C>T (p.Gln234Ter) c.625C>T (p.Gln209Ter) | |
| 15 | g.40471914A= | CA2171795312 | CHST14 | c.701A= (p.Gln234=) c.626A= (p.Gln209=) | |
| 15 | g.40471914A>C | CA391766708 | CHST14 | c.701A>C (p.Gln234Pro) c.626A>C (p.Gln209Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.40471914A>G | CA391766709 | CHST14 | c.701A>G (p.Gln234Arg) c.626A>G (p.Gln209Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.40471914A>T | CA391766710 | CHST14 | c.701A>T (p.Gln234Leu) c.626A>T (p.Gln209Leu) | |
| 15 | g.40471915G>A | CA489975288 | CHST14 | c.702G>A (p.Gln234=) c.627G>A (p.Gln209=) | |
| 15 | g.40471915G>C | CA391766712 | CHST14 | c.702G>C (p.Gln234His) c.627G>C (p.Gln209His) | |
| 15 | g.40471915G>T | CA391766714 | CHST14 | c.702G>T (p.Gln234His) c.627G>T (p.Gln209His) | |
| 15 | g.40471916C>A | CA391766718 | CHST14 | c.703C>A (p.Gln235Lys) c.628C>A (p.Gln210Lys) | |
| 15 | g.40471916C>G | CA391766717 | CHST14 | c.703C>G (p.Gln235Glu) c.628C>G (p.Gln210Glu) | |
| 15 | g.40471916C>T | CA391766715 | CHST14 | c.703C>T (p.Gln235Ter) c.628C>T (p.Gln210Ter) | |
| 15 | g.40471916_40471917delinsCA | CA2171795313 | CHST14 | c.703_704delinsCA (p.Gln235=) c.628_629delinsCA (p.Gln210=) | |
| 15 | g.40471917A= | CA2171795314 | CHST14 | c.704A= (p.Gln235=) c.629A= (p.Gln210=) | |
| 15 | g.40471917A>C | CA391766720 | CHST14 | c.704A>C (p.Gln235Pro) c.629A>C (p.Gln210Pro) | |
| 15 | g.40471917A>G | CA268822685 | CHST14 | c.704A>G (p.Gln235Arg) c.629A>G (p.Gln210Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.40471917A>T | CA391766722 | CHST14 | c.704A>T (p.Gln235Leu) c.629A>T (p.Gln210Leu) | |
| 15 | g.40471918del | CA712723198 | CHST14 | c.705del (p.Gln235HisfsTer7) c.630del (p.Gln210HisfsTer7) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.40471918A= | CA2171795315 | CHST14 | c.705A= (p.Gln235=) c.630A= (p.Gln210=) | |
| 15 | g.40471918A>C | CA268822691 | CHST14 | c.705A>C (p.Gln235His) c.630A>C (p.Gln210His) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.40471918A>G | CA489975292 | CHST14 | c.705A>G (p.Gln235=) c.630A>G (p.Gln210=) | dbSNP |
| 15 | g.40471918A>T | CA391766726 | CHST14 | c.705A>T (p.Gln235His) c.630A>T (p.Gln210His) | |
| 15 | g.40471919C>A | CA391766727 | CHST14 | c.706C>A (p.Arg236Ser) c.631C>A (p.Arg211Ser) | |
| 15 | g.40471919C>G | CA391766728 | CHST14 | c.706C>G (p.Arg236Gly) c.631C>G (p.Arg211Gly) | |
| 15 | g.40471919C>T | CA391766729 | CHST14 | c.706C>T (p.Arg236Cys) c.631C>T (p.Arg211Cys) | |
| 15 | g.40471920G>A | CA391766731 | CHST14 | c.707G>A (p.Arg236His) c.632G>A (p.Arg211His) | dbSNP |
| 15 | g.40471920G>C | CA391766733 | CHST14 | c.707G>C (p.Arg236Pro) c.632G>C (p.Arg211Pro) | |
| 15 | g.40471920G= | CA2171795316 | CHST14 | c.707G= (p.Arg236=) c.632G= (p.Arg211=) | |
| 15 | g.40471920G>T | CA391766734 | CHST14 | c.707G>T (p.Arg236Leu) c.632G>T (p.Arg211Leu) | gnomAD v4 |
| 15 | g.40471921C>A | CA268822696 | CHST14 | c.708C>A (p.Arg236=) c.633C>A (p.Arg211=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40471921C= | CA2171795317 | CHST14 | c.708C= (p.Arg236=) c.633C= (p.Arg211=) | |
| 15 | g.40471921C>G | CA7481634 | CHST14 | c.708C>G (p.Arg236=) c.633C>G (p.Arg211=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.40471921C>T | CA489975298 | CHST14 | c.708C>T (p.Arg236=) c.633C>T (p.Arg211=) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.40471922T>A | CA391766738 | CHST14 | c.709T>A (p.Tyr237Asn) c.634T>A (p.Tyr212Asn) | |
| 15 | g.40471922T>C | CA391766740 | CHST14 | c.709T>C (p.Tyr237His) c.634T>C (p.Tyr212His) | |
| 15 | g.40471922T>G | CA391766737 | CHST14 | c.709T>G (p.Tyr237Asp) c.634T>G (p.Tyr212Asp) | |
| 15 | g.40471923A= | CA2171795318 | CHST14 | c.710A= (p.Tyr237=) c.635A= (p.Tyr212=) | |
| 15 | g.40471923A>C | CA391766743 | CHST14 | c.710A>C (p.Tyr237Ser) c.635A>C (p.Tyr212Ser) | |
| 15 | g.40471923A>G | CA391766741 | CHST14 | c.710A>G (p.Tyr237Cys) c.635A>G (p.Tyr212Cys) | ClinVar dbSNP gnomAD v2 |
| 15 | g.40471923A>T | CA391766742 | CHST14 | c.710A>T (p.Tyr237Phe) c.635A>T (p.Tyr212Phe) | |
| 15 | g.40471924T>A | CA391766744 | CHST14 | c.711T>A (p.Tyr237Ter) c.636T>A (p.Tyr212Ter) | ClinVar |
| 15 | g.40471924T>C | CA489975312 | CHST14 | c.711T>C (p.Tyr237=) c.636T>C (p.Tyr212=) | |
| 15 | g.40471924T>G | CA391766745 | CHST14 | c.711T>G (p.Tyr237Ter) c.636T>G (p.Tyr212Ter) | |
| 15 | g.40471925G>A | CA391766747 | CHST14 | c.712G>A (p.Gly238Arg) c.637G>A (p.Gly213Arg) | |
| 15 | g.40471925G>C | CA391766748 | CHST14 | c.712G>C (p.Gly238Arg) c.637G>C (p.Gly213Arg) | |
| 15 | g.40471925G>T | CA391766749 | CHST14 | c.712G>T (p.Gly238Trp) c.637G>T (p.Gly213Trp) | |
| 15 | g.40471926G>A | CA391766751 | CHST14 | c.713G>A (p.Gly238Glu) c.638G>A (p.Gly213Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.40471926G>C | CA391766752 | CHST14 | c.713G>C (p.Gly238Ala) c.638G>C (p.Gly213Ala) | |
| 15 | g.40471926G= | CA2171795319 | CHST14 | c.713G= (p.Gly238=) c.638G= (p.Gly213=) | |
| 15 | g.40471926G>T | CA391766753 | CHST14 | c.713G>T (p.Gly238Val) c.638G>T (p.Gly213Val) | |
| 15 | g.40471927_40471933del | CA2627824989 | CHST14 | c.714_720del (p.Ala239Ter) c.639_645del (p.Ala214Ter) | gnomAD v4 |
| 15 | g.40471927G>A | CA489975321 | CHST14 | c.714G>A (p.Gly238=) c.639G>A (p.Gly213=) | |
| 15 | g.40471927G>C | CA489975323 | CHST14 | c.714G>C (p.Gly238=) c.639G>C (p.Gly213=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.40471927G= | CA2171795320 | CHST14 | c.714G= (p.Gly238=) c.639G= (p.Gly213=) | |
| 15 | g.40471927G>T | CA489975324 | CHST14 | c.714G>T (p.Gly238=) c.639G>T (p.Gly213=) | |
| 15 | g.40471928G>A | CA391766754 | CHST14 | c.715G>A (p.Ala239Thr) c.640G>A (p.Ala214Thr) | |
| 15 | g.40471928G>C | CA391766756 | CHST14 | c.715G>C (p.Ala239Pro) c.640G>C (p.Ala214Pro) | |
| 15 | g.40471928G>T | CA391766757 | CHST14 | c.715G>T (p.Ala239Ser) c.640G>T (p.Ala214Ser) | |
| 15 | g.40471929C>A | CA391766759 | CHST14 | c.716C>A (p.Ala239Asp) c.641C>A (p.Ala214Asp) | |
| 15 | g.40471929C>G | CA391766762 | CHST14 | c.716C>G (p.Ala239Gly) c.641C>G (p.Ala214Gly) | |
| 15 | g.40471929C>T | CA391766761 | CHST14 | c.716C>T (p.Ala239Val) c.641C>T (p.Ala214Val) | |
| 15 | g.40471930T>A | CA489975326 | CHST14 | c.717T>A (p.Ala239=) c.642T>A (p.Ala214=) | |
| 15 | g.40471930T>C | CA489975327 | CHST14 | c.717T>C (p.Ala239=) c.642T>C (p.Ala214=) | |
| 15 | g.40471930T>G | CA489975328 | CHST14 | c.717T>G (p.Ala239=) c.642T>G (p.Ala214=) | gnomAD v4 |
| 15 | g.40471930_40471932delinsTGA | CA2171795321 | CHST14 | c.717_719delinsTGA (p.Ala239=) c.642_644delinsTGA (p.Ala214=) | |
| 15 | g.40471931G>A | CA7481635 | CHST14 | c.718G>A (p.Glu240Lys) c.643G>A (p.Glu215Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40471931G>C | CA391766764 | CHST14 | c.718G>C (p.Glu240Gln) c.643G>C (p.Glu215Gln) | ClinVar |
| 15 | g.40471931G= | CA2171795323 | CHST14 | c.718G= (p.Glu240=) c.643G= (p.Glu215=) | |
| 15 | g.40471931G>T | CA391766765 | CHST14 | c.718G>T (p.Glu240Ter) c.643G>T (p.Glu215Ter) | |
| 15 | g.40471933_40471934del | CA2171795322 | CHST14 | c.720_721del (p.Glu240AspfsTer30) c.645_646del (p.Glu215AspfsTer30) | dbSNP |
| 15 | g.40471932A= | CA2171795324 | CHST14 | c.719A= (p.Glu240=) c.644A= (p.Glu215=) | |
| 15 | g.40471932A>C | CA391766767 | CHST14 | c.719A>C (p.Glu240Ala) c.644A>C (p.Glu215Ala) | |
| 15 | g.40471932A>G | CA391766775 | CHST14 | c.719A>G (p.Glu240Gly) c.644A>G (p.Glu215Gly) | |
| 15 | g.40471932A>T | CA391766777 | CHST14 | c.719A>T (p.Glu240Val) c.644A>T (p.Glu215Val) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.40471933G>A | CA489975335 | CHST14 | c.720G>A (p.Glu240=) c.645G>A (p.Glu215=) | |
| 15 | g.40471933G>C | CA391766779 | CHST14 | c.720G>C (p.Glu240Asp) c.645G>C (p.Glu215Asp) | |
| 15 | g.40471933G>T | CA391766781 | CHST14 | c.720G>T (p.Glu240Asp) c.645G>T (p.Glu215Asp) | |
| 15 | g.40471934A= | CA2171795325 | CHST14 | c.721A= (p.Ile241=) c.646A= (p.Ile216=) | |
| 15 | g.40471934A>C | CA391766782 | CHST14 | c.721A>C (p.Ile241Leu) c.646A>C (p.Ile216Leu) | dbSNP |
| 15 | g.40471934A>G | CA391766784 | CHST14 | c.721A>G (p.Ile241Val) c.646A>G (p.Ile216Val) | |
| 15 | g.40471934A>T | CA391766785 | CHST14 | c.721A>T (p.Ile241Leu) c.646A>T (p.Ile216Leu) | |
| 15 | g.40471935T>A | CA391766787 | CHST14 | c.722T>A (p.Ile241Lys) c.647T>A (p.Ile216Lys) | |
| 15 | g.40471935T>C | CA391766789 | CHST14 | c.722T>C (p.Ile241Thr) c.647T>C (p.Ile216Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.40471935T>G | CA391766786 | CHST14 | c.722T>G (p.Ile241Arg) c.647T>G (p.Ile216Arg) | |
| 15 | g.40471935T= | CA2171795326 | CHST14 | c.722T= (p.Ile241=) c.647T= (p.Ile216=) | |
| 15 | g.40471936A>C | CA489975338 | CHST14 | c.723A>C (p.Ile241=) c.648A>C (p.Ile216=) | |
| 15 | g.40471936A>G | CA391766790 | CHST14 | c.723A>G (p.Ile241Met) c.648A>G (p.Ile216Met) | |
| 15 | g.40471936A>T | CA489975339 | CHST14 | c.723A>T (p.Ile241=) c.648A>T (p.Ile216=) | |
| 15 | g.40471937G>A | CA391766792 | CHST14 | c.724G>A (p.Val242Met) c.649G>A (p.Val217Met) | |
| 15 | g.40471937G>C | CA391766793 | CHST14 | c.724G>C (p.Val242Leu) c.649G>C (p.Val217Leu) | |
| 15 | g.40471937G>T | CA391766795 | CHST14 | c.724G>T (p.Val242Leu) c.649G>T (p.Val217Leu) | |
| 15 | g.40471938T>A | CA391766796 | CHST14 | c.725T>A (p.Val242Glu) c.650T>A (p.Val217Glu) | |
| 15 | g.40471938T>C | CA391766798 | CHST14 | c.725T>C (p.Val242Ala) c.650T>C (p.Val217Ala) | |
| 15 | g.40471938T>G | CA391766799 | CHST14 | c.725T>G (p.Val242Gly) c.650T>G (p.Val217Gly) | |
| 15 | g.40471939G>A | CA7481636 | CHST14 | c.726G>A (p.Val242=) c.651G>A (p.Val217=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.40471939G>C | CA489975346 | CHST14 | c.726G>C (p.Val242=) c.651G>C (p.Val217=) | |
| 15 | g.40471939G= | CA2171795327 | CHST14 | c.726G= (p.Val242=) c.651G= (p.Val217=) | |
| 15 | g.40471939G>T | CA489975347 | CHST14 | c.726G>T (p.Val242=) c.651G>T (p.Val217=) | dbSNP |
| 15 | g.40471940A>C | CA489975348 | CHST14 | c.727A>C (p.Arg243=) c.652A>C (p.Arg218=) | |
| 15 | g.40471940A>G | CA391766801 | CHST14 | c.727A>G (p.Arg243Gly) c.652A>G (p.Arg218Gly) | gnomAD v4 |
| 15 | g.40471940A>T | CA391766803 | CHST14 | c.727A>T (p.Arg243Trp) c.652A>T (p.Arg218Trp) | |
| 15 | g.40471941G>A | CA391766805 | CHST14 | c.728G>A (p.Arg243Lys) c.653G>A (p.Arg218Lys) | |
| 15 | g.40471941G>C | CA391766806 | CHST14 | c.728G>C (p.Arg243Thr) c.653G>C (p.Arg218Thr) | |
| 15 | g.40471941G>T | CA391766807 | CHST14 | c.728G>T (p.Arg243Met) c.653G>T (p.Arg218Met) | |
| 15 | g.40471942G>A | CA489975352 | CHST14 | c.729G>A (p.Arg243=) c.654G>A (p.Arg218=) | gnomAD v4 |
| 15 | g.40471942G>C | CA391766808 | CHST14 | c.729G>C (p.Arg243Ser) c.654G>C (p.Arg218Ser) | |
| 15 | g.40471942G= | CA2171795329 | CHST14 | c.729G= (p.Arg243=) c.654G= (p.Arg218=) | |
| 15 | g.40471942G>T | CA391766810 | CHST14 | c.729G>T (p.Arg243Ser) c.654G>T (p.Arg218Ser) | ClinVar dbSNP |
| 15 | g.40471942_40471943delinsGC | CA2171795328 | CHST14 | c.729_730delinsGC (p.Arg243=) c.654_655delinsGC (p.Arg218=) | |
| 15 | g.40471943del | CA7481637 | CHST14 | c.730del (p.Arg244GlyfsTer21) c.655del (p.Arg219GlyfsTer21) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.40471943C>A | CA489975354 | CHST14 | c.730C>A (p.Arg244=) c.655C>A (p.Arg219=) | |
| 15 | g.40471943C= | CA2171795330 | CHST14 | c.730C= (p.Arg244=) c.655C= (p.Arg219=) | |
| 15 | g.40471943C>G | CA391766811 | CHST14 | c.730C>G (p.Arg244Gly) c.655C>G (p.Arg219Gly) | |
| 15 | g.40471943C>T | CA391766812 | CHST14 | c.730C>T (p.Arg244Trp) c.655C>T (p.Arg219Trp) | dbSNP gnomAD v4 |
| 15 | g.40471944G>A | CA391766814 | CHST14 | c.731G>A (p.Arg244Gln) c.656G>A (p.Arg219Gln) | gnomAD v4 |
| 15 | g.40471944G>C | CA391766815 | CHST14 | c.731G>C (p.Arg244Pro) c.656G>C (p.Arg219Pro) | |
| 15 | g.40471944G>T | CA391766817 | CHST14 | c.731G>T (p.Arg244Leu) c.656G>T (p.Arg219Leu) | |
| 15 | g.40471945G>A | CA489975357 | CHST14 | c.732G>A (p.Arg244=) c.657G>A (p.Arg219=) | |
| 15 | g.40471945G>C | CA489975358 | CHST14 | c.732G>C (p.Arg244=) c.657G>C (p.Arg219=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40471945G= | CA2171795331 | CHST14 | c.732G= (p.Arg244=) c.657G= (p.Arg219=) | |
| 15 | g.40471945G>T | CA489975359 | CHST14 | c.732G>T (p.Arg244=) c.657G>T (p.Arg219=) | |
| 15 | g.40471946T>A | CA391766819 | CHST14 | c.733T>A (p.Tyr245Asn) c.658T>A (p.Tyr220Asn) | |
| 15 | g.40471946T>C | CA391766820 | CHST14 | c.733T>C (p.Tyr245His) c.658T>C (p.Tyr220His) | |
| 15 | g.40471946T>G | CA391766821 | CHST14 | c.733T>G (p.Tyr245Asp) c.658T>G (p.Tyr220Asp) | dbSNP |
| 15 | g.40471947A>C | CA391766823 | CHST14 | c.734A>C (p.Tyr245Ser) c.659A>C (p.Tyr220Ser) | |
| 15 | g.40471947A>G | CA391766825 | CHST14 | c.734A>G (p.Tyr245Cys) c.659A>G (p.Tyr220Cys) | |
| 15 | g.40471947A>T | CA391766826 | CHST14 | c.734A>T (p.Tyr245Phe) c.659A>T (p.Tyr220Phe) | |
| 15 | g.40471948C>A | CA391766827 | CHST14 | c.735C>A (p.Tyr245Ter) c.660C>A (p.Tyr220Ter) | |
| 15 | g.40471948C= | CA2171795332 | CHST14 | c.735C= (p.Tyr245=) c.660C= (p.Tyr220=) | |
| 15 | g.40471948C>G | CA391766828 | CHST14 | c.735C>G (p.Tyr245Ter) c.660C>G (p.Tyr220Ter) | |
| 15 | g.40471948C>T | CA489975362 | CHST14 | c.735C>T (p.Tyr245=) c.660C>T (p.Tyr220=) | dbSNP |
| 15 | g.40471949A= | CA2171795333 | CHST14 | c.736A= (p.Arg246=) c.661A= (p.Arg221=) | |
| 15 | g.40471949A>C | CA489975363 | CHST14 | c.736A>C (p.Arg246=) c.661A>C (p.Arg221=) | dbSNP |
| 15 | g.40471949A>G | CA391766829 | CHST14 | c.736A>G (p.Arg246Gly) c.661A>G (p.Arg221Gly) | gnomAD v4 |
| 15 | g.40471949A>T | CA391766831 | CHST14 | c.736A>T (p.Arg246Trp) c.661A>T (p.Arg221Trp) | |
| 15 | g.40471950G>A | CA391766833 | CHST14 | c.737G>A (p.Arg246Lys) c.662G>A (p.Arg221Lys) | gnomAD v4 |
| 15 | g.40471950G>C | CA391766836 | CHST14 | c.737G>C (p.Arg246Thr) c.662G>C (p.Arg221Thr) | |
| 15 | g.40471950G>T | CA391766832 | CHST14 | c.737G>T (p.Arg246Met) c.662G>T (p.Arg221Met) | |
| 15 | g.40471951G>A | CA489975367 | CHST14 | c.738G>A (p.Arg246=) c.663G>A (p.Arg221=) | gnomAD v4 |
| 15 | g.40471951G>C | CA391766838 | CHST14 | c.738G>C (p.Arg246Ser) c.663G>C (p.Arg221Ser) | |
| 15 | g.40471951G>T | CA391766837 | CHST14 | c.738G>T (p.Arg246Ser) c.663G>T (p.Arg221Ser) | |
| 15 | g.40471952G>A | CA391766843 | CHST14 | c.739G>A (p.Ala247Thr) c.664G>A (p.Ala222Thr) | |
| 15 | g.40471952G>C | CA391766839 | CHST14 | c.739G>C (p.Ala247Pro) c.664G>C (p.Ala222Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.40471952G= | CA2171795334 | CHST14 | c.739G= (p.Ala247=) c.664G= (p.Ala222=) | |
| 15 | g.40471952G>T | CA391766841 | CHST14 | c.739G>T (p.Ala247Ser) c.664G>T (p.Ala222Ser) | |
| 15 | g.40471953C>A | CA391766844 | CHST14 | c.740C>A (p.Ala247Asp) c.665C>A (p.Ala222Asp) | |
| 15 | g.40471953C>G | CA391766845 | CHST14 | c.740C>G (p.Ala247Gly) c.665C>G (p.Ala222Gly) | |
| 15 | g.40471953C>T | CA391766846 | CHST14 | c.740C>T (p.Ala247Val) c.665C>T (p.Ala222Val) | COSMIC |
| 15 | g.40471954T>A | CA489975371 | CHST14 | c.741T>A (p.Ala247=) c.666T>A (p.Ala222=) | |
| 15 | g.40471954T>C | CA489975372 | CHST14 | c.741T>C (p.Ala247=) c.666T>C (p.Ala222=) | |
| 15 | g.40471954T>G | CA489975374 | CHST14 | c.741T>G (p.Ala247=) c.666T>G (p.Ala222=) | |
| 15 | g.40471955G>A | CA391766847 | CHST14 | c.742G>A (p.Gly248Arg) c.667G>A (p.Gly223Arg) | gnomAD v4 |
| 15 | g.40471955G>C | CA391766848 | CHST14 | c.742G>C (p.Gly248Arg) c.667G>C (p.Gly223Arg) | |
| 15 | g.40471955G>T | CA391766850 | CHST14 | c.742G>T (p.Gly248Ter) c.667G>T (p.Gly223Ter) | |
| 15 | g.40471956G>A | CA391766852 | CHST14 | c.743G>A (p.Gly248Glu) c.668G>A (p.Gly223Glu) | |
| 15 | g.40471956G>C | CA7481638 | CHST14 | c.743G>C (p.Gly248Ala) c.668G>C (p.Gly223Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40471956G= | CA2171795335 | CHST14 | c.743G= (p.Gly248=) c.668G= (p.Gly223=) | |
| 15 | g.40471956G>T | CA391766854 | CHST14 | c.743G>T (p.Gly248Val) c.668G>T (p.Gly223Val) | |
| 15 | g.40471957A>C | CA489975377 | CHST14 | c.744A>C (p.Gly248=) c.669A>C (p.Gly223=) | |
| 15 | g.40471957A>G | CA489975379 | CHST14 | c.744A>G (p.Gly248=) c.669A>G (p.Gly223=) | |
| 15 | g.40471957A>T | CA489975380 | CHST14 | c.744A>T (p.Gly248=) c.669A>T (p.Gly223=) | |
| 15 | g.40471958G>A | CA391766859 | CHST14 | c.745G>A (p.Ala249Thr) c.670G>A (p.Ala224Thr) | |
| 15 | g.40471958G>C | CA391766857 | CHST14 | c.745G>C (p.Ala249Pro) c.670G>C (p.Ala224Pro) | |
| 15 | g.40471958G>T | CA391766856 | CHST14 | c.745G>T (p.Ala249Ser) c.670G>T (p.Ala224Ser) | |
| 15 | g.40471959C>A | CA391766860 | CHST14 | c.746C>A (p.Ala249Glu) c.671C>A (p.Ala224Glu) | gnomAD v4 |
| 15 | g.40471959C= | CA2171795336 | CHST14 | c.746C= (p.Ala249=) c.671C= (p.Ala224=) | |
| 15 | g.40471959C>G | CA391766861 | CHST14 | c.746C>G (p.Ala249Gly) c.671C>G (p.Ala224Gly) | |
| 15 | g.40471959C>T | CA391766862 | CHST14 | c.746C>T (p.Ala249Val) c.671C>T (p.Ala224Val) | dbSNP gnomAD v4 |
| 15 | g.40471960G>A | CA489975383 | CHST14 | c.747G>A (p.Ala249=) c.672G>A (p.Ala224=) | dbSNP gnomAD v4 COSMIC |
| 15 | g.40471960G>C | CA7481639 | CHST14 | c.747G>C (p.Ala249=) c.672G>C (p.Ala224=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40471960G= | CA2171795337 | CHST14 | c.747G= (p.Ala249=) c.672G= (p.Ala224=) | |
| 15 | g.40471960G>T | CA489975384 | CHST14 | c.747G>T (p.Ala249=) c.672G>T (p.Ala224=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 15 | g.40471961G>A | CA391766865 | CHST14 | c.748G>A (p.Gly250Arg) c.673G>A (p.Gly225Arg) | gnomAD v4 |
| 15 | g.40471961G>C | CA391766866 | CHST14 | c.748G>C (p.Gly250Arg) c.673G>C (p.Gly225Arg) | |
| 15 | g.40471961G>T | CA391766868 | CHST14 | c.748G>T (p.Gly250Trp) c.673G>T (p.Gly225Trp) | gnomAD v4 |
| 15 | g.40471962G>A | CA391766870 | CHST14 | c.749G>A (p.Gly250Glu) c.674G>A (p.Gly225Glu) | dbSNP gnomAD v4 |
| 15 | g.40471962G>C | CA391766872 | CHST14 | c.749G>C (p.Gly250Ala) c.674G>C (p.Gly225Ala) | |
| 15 | g.40471962G= | CA2171795338 | CHST14 | c.749G= (p.Gly250=) c.674G= (p.Gly225=) | |
| 15 | g.40471962G>T | CA391766873 | CHST14 | c.749G>T (p.Gly250Val) c.674G>T (p.Gly225Val) | |
| 15 | g.40471963G>A | CA489975390 | CHST14 | c.750G>A (p.Gly250=) c.675G>A (p.Gly225=) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.40471963G>C | CA489975388 | CHST14 | c.750G>C (p.Gly250=) c.675G>C (p.Gly225=) | |
| 15 | g.40471963G= | CA2171795339 | CHST14 | c.750G= (p.Gly250=) c.675G= (p.Gly225=) | |
| 15 | g.40471963G>T | CA489975389 | CHST14 | c.750G>T (p.Gly250=) c.675G>T (p.Gly225=) | ClinVar dbSNP gnomAD v4 |
| 15 | g.40471964C>A | CA391766875 | CHST14 | c.751C>A (p.Pro251Thr) c.676C>A (p.Pro226Thr) | gnomAD v4 |
| 15 | g.40471964C= | CA2171795341 | CHST14 | c.751C= (p.Pro251=) c.676C= (p.Pro226=) | |
| 15 | g.40471964C>G | CA391766876 | CHST14 | c.751C>G (p.Pro251Ala) c.676C>G (p.Pro226Ala) | dbSNP |
| 15 | g.40471964C>T | CA391766878 | CHST14 | c.751C>T (p.Pro251Ser) c.676C>T (p.Pro226Ser) | |
| 15 | g.40471964_40472061delinsCCCAGCCCTGCAGGCGACGATGTCACATTCCCCGAGTTCCTGAGATACCTGGTGGATGAGGACCCTGAGCGCATGAATGAGCATTGGATGCCCGTGTA | CA2171795340 | CHST14 | c.751_848delinsCCCAGCCCTGCAGGCGACGATGTCACATTCCCCGAGTTCCTGAGATACCTGGTGGATGAGGACCCTGAGCGCATGAATGAGCATTGGATGCCCGTGTA (p.Pro251=) c.676_773delinsCCCAGCCCTGCAGGCGACGATGTCACATTCCCCGAGTTCCTGAGATACCTGGTGGATGAGGACCCTGAGCGCATGAATGAGCATTGGATGCCCGTGTA (p.Pro226=) | |
| 15 | g.40471965C>A | CA391766882 | CHST14 | c.752C>A (p.Pro251His) c.677C>A (p.Pro226His) | |
| 15 | g.40471965C= | CA2171795342 | CHST14 | c.752C= (p.Pro251=) c.677C= (p.Pro226=) | |
| 15 | g.40471965C>G | CA391766881 | CHST14 | c.752C>G (p.Pro251Arg) c.677C>G (p.Pro226Arg) | |
| 15 | g.40471965C>T | CA391766880 | CHST14 | c.752C>T (p.Pro251Leu) c.677C>T (p.Pro226Leu) | dbSNP gnomAD v4 |
| 15 | g.40471968_40472064del | CA16619922 | CHST14 | c.755_851del (p.Ser252ThrfsTer?) c.680_776del (p.Ser227ThrfsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.40471966C>A | CA489975394 | CHST14 | c.753C>A (p.Pro251=) c.678C>A (p.Pro226=) | |
| 15 | g.40471966C>G | CA489975393 | CHST14 | c.753C>G (p.Pro251=) c.678C>G (p.Pro226=) | gnomAD v4 |
| 15 | g.40471966C>T | CA489975392 | CHST14 | c.753C>T (p.Pro251=) c.678C>T (p.Pro226=) | |
| 15 | g.40471967A>C | CA391766888 | CHST14 | c.754A>C (p.Ser252Arg) c.679A>C (p.Ser227Arg) | |
| 15 | g.40471967A>G | CA391766884 | CHST14 | c.754A>G (p.Ser252Gly) c.679A>G (p.Ser227Gly) | |
| 15 | g.40471967A>T | CA391766886 | CHST14 | c.754A>T (p.Ser252Cys) c.679A>T (p.Ser227Cys) | |
| 15 | g.40471968G>A | CA391766889 | CHST14 | c.755G>A (p.Ser252Asn) c.680G>A (p.Ser227Asn) | |
| 15 | g.40471968G>C | CA391766890 | CHST14 | c.755G>C (p.Ser252Thr) c.680G>C (p.Ser227Thr) | |
| 15 | g.40471968G>T | CA391766891 | CHST14 | c.755G>T (p.Ser252Ile) c.680G>T (p.Ser227Ile) | |
| 15 | g.40471969C>A | CA7481640 | CHST14 | c.756C>A (p.Ser252Arg) c.681C>A (p.Ser227Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40471969C= | CA2171795343 | CHST14 | c.756C= (p.Ser252=) c.681C= (p.Ser227=) | |
| 15 | g.40471969C>G | CA391766894 | CHST14 | c.756C>G (p.Ser252Arg) c.681C>G (p.Ser227Arg) | |
| 15 | g.40471969C>T | CA489975396 | CHST14 | c.756C>T (p.Ser252=) c.681C>T (p.Ser227=) | gnomAD v4 |
| 15 | g.40471970C>A | CA391766896 | CHST14 | c.757C>A (p.Pro253Thr) c.682C>A (p.Pro228Thr) | |
| 15 | g.40471970C>G | CA391766898 | CHST14 | c.757C>G (p.Pro253Ala) c.682C>G (p.Pro228Ala) | |
| 15 | g.40471970C>T | CA391766901 | CHST14 | c.757C>T (p.Pro253Ser) c.682C>T (p.Pro228Ser) | |
| 15 | g.40471971C>A | CA391766904 | CHST14 | c.758C>A (p.Pro253His) c.683C>A (p.Pro228His) | |
| 15 | g.40471971C>G | CA391766905 | CHST14 | c.758C>G (p.Pro253Arg) c.683C>G (p.Pro228Arg) | |
| 15 | g.40471971C>T | CA391766908 | CHST14 | c.758C>T (p.Pro253Leu) c.683C>T (p.Pro228Leu) | |
| 15 | g.40471972T>A | CA489975398 | CHST14 | c.759T>A (p.Pro253=) c.684T>A (p.Pro228=) | |
| 15 | g.40471972T>C | CA489975399 | CHST14 | c.759T>C (p.Pro253=) c.684T>C (p.Pro228=) | dbSNP |
| 15 | g.40471972T>G | CA489975400 | CHST14 | c.759T>G (p.Pro253=) c.684T>G (p.Pro228=) | dbSNP |
| 15 | g.40471972T= | CA2171795344 | CHST14 | c.759T= (p.Pro253=) c.684T= (p.Pro228=) | |
| 15 | g.40471973G>A | CA391766920 | CHST14 | c.760G>A (p.Ala254Thr) c.685G>A (p.Ala229Thr) | |
| 15 | g.40471973G>C | CA391766916 | CHST14 | c.760G>C (p.Ala254Pro) c.685G>C (p.Ala229Pro) | |
| 15 | g.40471973G= | CA2171795345 | CHST14 | c.760G= (p.Ala254=) c.685G= (p.Ala229=) | |
| 15 | g.40471973G>T | CA391766918 | CHST14 | c.760G>T (p.Ala254Ser) c.685G>T (p.Ala229Ser) | dbSNP gnomAD v4 |
| 15 | g.40471974C>A | CA391766923 | CHST14 | c.761C>A (p.Ala254Glu) c.686C>A (p.Ala229Glu) | gnomAD v4 |
| 15 | g.40471974C>G | CA391766926 | CHST14 | c.761C>G (p.Ala254Gly) c.686C>G (p.Ala229Gly) | |
| 15 | g.40471974C>T | CA391766928 | CHST14 | c.761C>T (p.Ala254Val) c.686C>T (p.Ala229Val) | |
| 15 | g.40471975A>C | CA489975403 | CHST14 | c.762A>C (p.Ala254=) c.687A>C (p.Ala229=) | gnomAD v4 |
| 15 | g.40471975A>G | CA489975404 | CHST14 | c.762A>G (p.Ala254=) c.687A>G (p.Ala229=) | |
| 15 | g.40471975A>T | CA489975405 | CHST14 | c.762A>T (p.Ala254=) c.687A>T (p.Ala229=) | |
| 15 | g.40471976G>A | CA391766930 | CHST14 | c.763G>A (p.Gly255Ser) c.688G>A (p.Gly230Ser) | gnomAD v4 |
| 15 | g.40471976G>C | CA391766932 | CHST14 | c.763G>C (p.Gly255Arg) c.688G>C (p.Gly230Arg) | ClinVar dbSNP |
| 15 | g.40471976G>T | CA391766935 | CHST14 | c.763G>T (p.Gly255Cys) c.688G>T (p.Gly230Cys) | |
| 15 | g.40471977G>A | CA391766938 | CHST14 | c.764G>A (p.Gly255Asp) c.689G>A (p.Gly230Asp) | |
| 15 | g.40471977G>C | CA391766940 | CHST14 | c.764G>C (p.Gly255Ala) c.689G>C (p.Gly230Ala) | ClinVar |
| 15 | g.40471977G>T | CA391766942 | CHST14 | c.764G>T (p.Gly255Val) c.689G>T (p.Gly230Val) | |
| 15 | g.40471978C>A | CA489975407 | CHST14 | c.765C>A (p.Gly255=) c.690C>A (p.Gly230=) | |
| 15 | g.40471978C= | CA2171795346 | CHST14 | c.765C= (p.Gly255=) c.690C= (p.Gly230=) | |
| 15 | g.40471978C>G | CA489975408 | CHST14 | c.765C>G (p.Gly255=) c.690C>G (p.Gly230=) | |
| 15 | g.40471978C>T | CA7481641 | CHST14 | c.765C>T (p.Gly255=) c.690C>T (p.Gly230=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40471979G>A | CA391766949 | CHST14 | c.766G>A (p.Asp256Asn) c.691G>A (p.Asp231Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.40471979G>C | CA391766952 | CHST14 | c.766G>C (p.Asp256His) c.691G>C (p.Asp231His) | |
| 15 | g.40471979G= | CA2171795347 | CHST14 | c.766G= (p.Asp256=) c.691G= (p.Asp231=) | |
| 15 | g.40471979G>T | CA7481642 | CHST14 | c.766G>T (p.Asp256Tyr) c.691G>T (p.Asp231Tyr) | dbSNP ExAC gnomAD v4 |
| 15 | g.40471980A>C | CA391766968 | CHST14 | c.767A>C (p.Asp256Ala) c.692A>C (p.Asp231Ala) | |
| 15 | g.40471980A>G | CA391766966 | CHST14 | c.767A>G (p.Asp256Gly) c.692A>G (p.Asp231Gly) | |
| 15 | g.40471980A>T | CA391766963 | CHST14 | c.767A>T (p.Asp256Val) c.692A>T (p.Asp231Val) | |
| 15 | g.40471981C>A | CA391766971 | CHST14 | c.768C>A (p.Asp256Glu) c.693C>A (p.Asp231Glu) | |
| 15 | g.40471981C>G | CA391766973 | CHST14 | c.768C>G (p.Asp256Glu) c.693C>G (p.Asp231Glu) | |
| 15 | g.40471981C>T | CA489975411 | CHST14 | c.768C>T (p.Asp256=) c.693C>T (p.Asp231=) | |
| 15 | g.40471982G>A | CA391766975 | CHST14 | c.769G>A (p.Asp257Asn) c.694G>A (p.Asp232Asn) | COSMIC |
| 15 | g.40471982G>C | CA391766977 | CHST14 | c.769G>C (p.Asp257His) c.694G>C (p.Asp232His) | |
| 15 | g.40471982G>T | CA391766979 | CHST14 | c.769G>T (p.Asp257Tyr) c.694G>T (p.Asp232Tyr) | |
| 15 | g.40471983A>C | CA391766982 | CHST14 | c.770A>C (p.Asp257Ala) c.695A>C (p.Asp232Ala) | |
| 15 | g.40471983A>G | CA391766983 | CHST14 | c.770A>G (p.Asp257Gly) c.695A>G (p.Asp232Gly) | |
| 15 | g.40471983A>T | CA391766984 | CHST14 | c.770A>T (p.Asp257Val) c.695A>T (p.Asp232Val) | |
| 15 | g.40471984T>A | CA391766986 | CHST14 | c.771T>A (p.Asp257Glu) c.696T>A (p.Asp232Glu) | |
| 15 | g.40471984T>C | CA7481643 | CHST14 | c.771T>C (p.Asp257=) c.696T>C (p.Asp232=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.40471984T>G | CA391766989 | CHST14 | c.771T>G (p.Asp257Glu) c.696T>G (p.Asp232Glu) | |
| 15 | g.40471984T= | CA2171795348 | CHST14 | c.771T= (p.Asp257=) c.696T= (p.Asp232=) | |
| 15 | g.40471985G>A | CA391766992 | CHST14 | c.772G>A (p.Val258Ile) c.697G>A (p.Val233Ile) | gnomAD v4 |
| 15 | g.40471985G>C | CA391766993 | CHST14 | c.772G>C (p.Val258Leu) c.697G>C (p.Val233Leu) | |
| 15 | g.40471985G>T | CA391766996 | CHST14 | c.772G>T (p.Val258Phe) c.697G>T (p.Val233Phe) | |
| 15 | g.40471986T>A | CA391767003 | CHST14 | c.773T>A (p.Val258Asp) c.698T>A (p.Val233Asp) | |
| 15 | g.40471986T>C | CA391766999 | CHST14 | c.773T>C (p.Val258Ala) c.698T>C (p.Val233Ala) | |
| 15 | g.40471986T>G | CA391767001 | CHST14 | c.773T>G (p.Val258Gly) c.698T>G (p.Val233Gly) | |
| 15 | g.40471987C>A | CA489975415 | CHST14 | c.774C>A (p.Val258=) c.699C>A (p.Val233=) | |
| 15 | g.40471987C>G | CA489975416 | CHST14 | c.774C>G (p.Val258=) c.699C>G (p.Val233=) | |
| 15 | g.40471987C>T | CA489975417 | CHST14 | c.774C>T (p.Val258=) c.699C>T (p.Val233=) | |
| 15 | g.40471988A= | CA2171795349 | CHST14 | c.775A= (p.Thr259=) c.700A= (p.Thr234=) | |
| 15 | g.40471988A>C | CA391767005 | CHST14 | c.775A>C (p.Thr259Pro) c.700A>C (p.Thr234Pro) | |
| 15 | g.40471988A>G | CA391767006 | CHST14 | c.775A>G (p.Thr259Ala) c.700A>G (p.Thr234Ala) | dbSNP gnomAD v4 |
| 15 | g.40471988A>T | CA391767008 | CHST14 | c.775A>T (p.Thr259Ser) c.700A>T (p.Thr234Ser) | |
| 15 | g.40471989C>A | CA391767011 | CHST14 | c.776C>A (p.Thr259Lys) c.701C>A (p.Thr234Lys) | |
| 15 | g.40471989C>G | CA391767013 | CHST14 | c.776C>G (p.Thr259Arg) c.701C>G (p.Thr234Arg) | |
| 15 | g.40471989C>T | CA391767016 | CHST14 | c.776C>T (p.Thr259Ile) c.701C>T (p.Thr234Ile) | |
| 15 | g.40471990A= | CA2171795350 | CHST14 | c.777A= (p.Thr259=) c.702A= (p.Thr234=) | |
| 15 | g.40471990A>C | CA489975424 | CHST14 | c.777A>C (p.Thr259=) c.702A>C (p.Thr234=) | |
| 15 | g.40471990A>G | CA489975423 | CHST14 | c.777A>G (p.Thr259=) c.702A>G (p.Thr234=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.40471990A>T | CA489975422 | CHST14 | c.777A>T (p.Thr259=) c.702A>T (p.Thr234=) | dbSNP gnomAD v2 |
| 15 | g.40471991T>A | CA391767019 | CHST14 | c.778T>A (p.Phe260Ile) c.703T>A (p.Phe235Ile) | |
| 15 | g.40471991T>C | CA391767021 | CHST14 | c.778T>C (p.Phe260Leu) c.703T>C (p.Phe235Leu) | ClinVar dbSNP |
| 15 | g.40471991T>G | CA391767024 | CHST14 | c.778T>G (p.Phe260Val) c.703T>G (p.Phe235Val) | |
| 15 | g.40471992T>A | CA391767027 | CHST14 | c.779T>A (p.Phe260Tyr) c.704T>A (p.Phe235Tyr) | |
| 15 | g.40471992T>C | CA391767029 | CHST14 | c.779T>C (p.Phe260Ser) c.704T>C (p.Phe235Ser) | |
| 15 | g.40471992T>G | CA391767031 | CHST14 | c.779T>G (p.Phe260Cys) c.704T>G (p.Phe235Cys) | |
| 15 | g.40471993C>A | CA391767038 | CHST14 | c.780C>A (p.Phe260Leu) c.705C>A (p.Phe235Leu) | |
| 15 | g.40471993C>G | CA391767035 | CHST14 | c.780C>G (p.Phe260Leu) c.705C>G (p.Phe235Leu) | |
| 15 | g.40471993C>T | CA489975428 | CHST14 | c.780C>T (p.Phe260=) c.705C>T (p.Phe235=) | |
| 15 | g.40471996del | CA2697554349 | CHST14 | c.783del (p.Glu262SerfsTer3) c.708del (p.Glu237SerfsTer3) | ClinVar |
| 15 | g.40471994C>A | CA391767040 | CHST14 | c.781C>A (p.Pro261Thr) c.706C>A (p.Pro236Thr) | |
| 15 | g.40471994C>G | CA391767042 | CHST14 | c.781C>G (p.Pro261Ala) c.706C>G (p.Pro236Ala) | |
| 15 | g.40471994C>T | CA391767044 | CHST14 | c.781C>T (p.Pro261Ser) c.706C>T (p.Pro236Ser) | |
| 15 | g.40471995C>A | CA391767046 | CHST14 | c.782C>A (p.Pro261His) c.707C>A (p.Pro236His) | |
| 15 | g.40471995C= | CA2171795351 | CHST14 | c.782C= (p.Pro261=) c.707C= (p.Pro236=) | |
| 15 | g.40471995C>G | CA391767048 | CHST14 | c.782C>G (p.Pro261Arg) c.707C>G (p.Pro236Arg) | dbSNP gnomAD v4 |
| 15 | g.40471995C>T | CA391767050 | CHST14 | c.782C>T (p.Pro261Leu) c.707C>T (p.Pro236Leu) | dbSNP gnomAD v4 |
| 15 | g.40471996C>A | CA489975430 | CHST14 | c.783C>A (p.Pro261=) c.708C>A (p.Pro236=) | |
| 15 | g.40471996C>G | CA489975433 | CHST14 | c.783C>G (p.Pro261=) c.708C>G (p.Pro236=) | |
| 15 | g.40471996C>T | CA489975432 | CHST14 | c.783C>T (p.Pro261=) c.708C>T (p.Pro236=) | ClinVar gnomAD v4 |
| 15 | g.40471997G>A | CA391767055 | CHST14 | c.784G>A (p.Glu262Lys) c.709G>A (p.Glu237Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40471997G>C | CA391767051 | CHST14 | c.784G>C (p.Glu262Gln) c.709G>C (p.Glu237Gln) | |
| 15 | g.40471997G= | CA2171795352 | CHST14 | c.784G= (p.Glu262=) c.709G= (p.Glu237=) | |
| 15 | g.40471997G>T | CA391767054 | CHST14 | c.784G>T (p.Glu262Ter) c.709G>T (p.Glu237Ter) | |
| 15 | g.40471998A>C | CA391767057 | CHST14 | c.785A>C (p.Glu262Ala) c.710A>C (p.Glu237Ala) | |
| 15 | g.40471998A>G | CA391767059 | CHST14 | c.785A>G (p.Glu262Gly) c.710A>G (p.Glu237Gly) | |
| 15 | g.40471998A>T | CA391767061 | CHST14 | c.785A>T (p.Glu262Val) c.710A>T (p.Glu237Val) | |
| 15 | g.40471999G>A | CA489975437 | CHST14 | c.786G>A (p.Glu262=) c.711G>A (p.Glu237=) | |
| 15 | g.40471999G>C | CA391767063 | CHST14 | c.786G>C (p.Glu262Asp) c.711G>C (p.Glu237Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.40471999G= | CA2171795353 | CHST14 | c.786G= (p.Glu262=) c.711G= (p.Glu237=) | |
| 15 | g.40471999G>T | CA391767064 | CHST14 | c.786G>T (p.Glu262Asp) c.711G>T (p.Glu237Asp) | |
| 15 | g.40472000T>A | CA391767073 | CHST14 | c.787T>A (p.Phe263Ile) c.712T>A (p.Phe238Ile) | |
| 15 | g.40472000T>C | CA391767068 | CHST14 | c.787T>C (p.Phe263Leu) c.712T>C (p.Phe238Leu) | COSMIC |
| 15 | g.40472000T>G | CA391767070 | CHST14 | c.787T>G (p.Phe263Val) c.712T>G (p.Phe238Val) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.40472000T= | CA2171795354 | CHST14 | c.787T= (p.Phe263=) c.712T= (p.Phe238=) |