| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.43182162C>A | CA371118334 | HGSNAT | c.1030C>A (p.Arg344Ser) n.516C>A c.181C>A (p.Arg61Ser) c.271C>A (p.Arg91Ser) c.134C>A c.838C>A (p.Arg280Ser) c.166C>A (p.Arg56Ser) | |
| 8 | g.43182162C= | CA1779774362 | HGSNAT | c.1030C= (p.Arg344=) n.516C= c.181C= (p.Arg61=) c.271C= (p.Arg91=) c.134C= c.838C= (p.Arg280=) c.166C= (p.Arg56=) | |
| 8 | g.43182162C>G | CA371118335 | HGSNAT | c.1030C>G (p.Arg344Gly) n.516C>G c.181C>G (p.Arg61Gly) c.271C>G (p.Arg91Gly) c.134C>G c.838C>G (p.Arg280Gly) c.166C>G (p.Arg56Gly) | gnomAD v4 |
| 8 | g.43182162C>T | CA114871 | HGSNAT | c.1030C>T (p.Arg344Cys) n.516C>T c.181C>T (p.Arg61Cys) c.271C>T (p.Arg91Cys) c.134C>T c.838C>T (p.Arg280Cys) c.166C>T (p.Arg56Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43182163G>A | CA4736734 | HGSNAT | c.1031G>A (p.Arg344His) n.517G>A c.182G>A (p.Arg61His) c.272G>A (p.Arg91His) c.135G>A c.839G>A (p.Arg280His) c.167G>A (p.Arg56His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 8 | g.43182163G>C | CA371118336 | HGSNAT | c.1031G>C (p.Arg344Pro) n.517G>C c.182G>C (p.Arg61Pro) c.272G>C (p.Arg91Pro) c.135G>C c.839G>C (p.Arg280Pro) c.167G>C (p.Arg56Pro) | |
| 8 | g.43182163G= | CA1779774363 | HGSNAT | c.1031G= (p.Arg344=) n.517G= c.182G= (p.Arg61=) c.272G= (p.Arg91=) c.135G= c.839G= (p.Arg280=) c.167G= (p.Arg56=) | |
| 8 | g.43182163G>T | CA371118337 | HGSNAT | c.1031G>T (p.Arg344Leu) n.517G>T c.182G>T (p.Arg61Leu) c.272G>T (p.Arg91Leu) c.135G>T c.839G>T (p.Arg280Leu) c.167G>T (p.Arg56Leu) | |
| 8 | g.43182166_43182181del | CA2573143139 | HGSNAT | c.1034_1049del (p.Ile345SerfsTer5) n.520_535del c.185_200del (p.Ile62SerfsTer5) c.275_290del (p.Ile92SerfsTer5) c.138_153del c.842_857del (p.Ile281SerfsTer5) c.170_185del (p.Ile57SerfsTer5) | ClinVar dbSNP |
| 8 | g.43182164C>A | CA460574651 | HGSNAT | c.1032C>A (p.Arg344=) n.518C>A c.183C>A (p.Arg61=) c.273C>A (p.Arg91=) c.136C>A c.840C>A (p.Arg280=) c.168C>A (p.Arg56=) | |
| 8 | g.43182164C>G | CA460574652 | HGSNAT | c.1032C>G (p.Arg344=) n.518C>G c.183C>G (p.Arg61=) c.273C>G (p.Arg91=) c.136C>G c.840C>G (p.Arg280=) c.168C>G (p.Arg56=) | |
| 8 | g.43182164C>T | CA460574653 | HGSNAT | c.1032C>T (p.Arg344=) n.518C>T c.183C>T (p.Arg61=) c.273C>T (p.Arg91=) c.136C>T c.840C>T (p.Arg280=) c.168C>T (p.Arg56=) | |
| 8 | g.43182165A>C | CA371118338 | HGSNAT | c.1033A>C (p.Ile345Leu) n.519A>C c.184A>C (p.Ile62Leu) c.274A>C (p.Ile92Leu) c.137A>C c.841A>C (p.Ile281Leu) c.169A>C (p.Ile57Leu) | |
| 8 | g.43182165A>G | CA371118339 | HGSNAT | c.1033A>G (p.Ile345Val) n.519A>G c.184A>G (p.Ile62Val) c.274A>G (p.Ile92Val) c.137A>G c.841A>G (p.Ile281Val) c.169A>G (p.Ile57Val) | ClinVar dbSNP gnomAD v4 |
| 8 | g.43182165A>T | CA371118340 | HGSNAT | c.1033A>T (p.Ile345Phe) n.519A>T c.184A>T (p.Ile62Phe) c.274A>T (p.Ile92Phe) c.137A>T c.841A>T (p.Ile281Phe) c.169A>T (p.Ile57Phe) | |
| 8 | g.43182166T>A | CA371118341 | HGSNAT | c.1034T>A (p.Ile345Asn) n.520T>A c.185T>A (p.Ile62Asn) c.275T>A (p.Ile92Asn) c.138T>A c.842T>A (p.Ile281Asn) c.170T>A (p.Ile57Asn) | |
| 8 | g.43182166T>C | CA371118342 | HGSNAT | c.1034T>C (p.Ile345Thr) n.520T>C c.185T>C (p.Ile62Thr) c.275T>C (p.Ile92Thr) c.138T>C c.842T>C (p.Ile281Thr) c.170T>C (p.Ile57Thr) | |
| 8 | g.43182166T>G | CA371118343 | HGSNAT | c.1034T>G (p.Ile345Ser) n.520T>G c.185T>G (p.Ile62Ser) c.275T>G (p.Ile92Ser) c.138T>G c.842T>G (p.Ile281Ser) c.170T>G (p.Ile57Ser) | |
| 8 | g.43182167T>A | CA460574657 | HGSNAT | c.1035T>A (p.Ile345=) n.521T>A c.186T>A (p.Ile62=) c.276T>A (p.Ile92=) c.139T>A c.843T>A (p.Ile281=) c.171T>A (p.Ile57=) | |
| 8 | g.43182167T>C | CA460574656 | HGSNAT | c.1035T>C (p.Ile345=) n.521T>C c.186T>C (p.Ile62=) c.276T>C (p.Ile92=) c.139T>C c.843T>C (p.Ile281=) c.171T>C (p.Ile57=) | |
| 8 | g.43182167T>G | CA371118344 | HGSNAT | c.1035T>G (p.Ile345Met) n.521T>G c.186T>G (p.Ile62Met) c.276T>G (p.Ile92Met) c.139T>G c.843T>G (p.Ile281Met) c.171T>G (p.Ile57Met) | |
| 8 | g.43182170_43182171insTGTCCT | CA2687155670 | HGSNAT | c.1038_1039insTGTCCT (p.Pro346_Gly347insCysPro) n.524_525insTGTCCT c.189_190insTGTCCT (p.Pro63_Gly64insCysPro) c.279_280insTGTCCT (p.Pro93_Gly94insCysPro) c.142_143insTGTCCT c.846_847insTGTCCT (p.Pro282_Gly283insCysPro) c.174_175insTGTCCT (p.Pro58_Gly59insCysPro) | gnomAD v4 |
| 8 | g.43182168C>A | CA371118345 | HGSNAT | c.1036C>A (p.Pro346Thr) n.522C>A c.187C>A (p.Pro63Thr) c.277C>A (p.Pro93Thr) c.140C>A c.844C>A (p.Pro282Thr) c.172C>A (p.Pro58Thr) | |
| 8 | g.43182168C>G | CA371118346 | HGSNAT | c.1036C>G (p.Pro346Ala) n.522C>G c.187C>G (p.Pro63Ala) c.277C>G (p.Pro93Ala) c.140C>G c.844C>G (p.Pro282Ala) c.172C>G (p.Pro58Ala) | |
| 8 | g.43182168C>T | CA371118347 | HGSNAT | c.1036C>T (p.Pro346Ser) n.522C>T c.187C>T (p.Pro63Ser) c.277C>T (p.Pro93Ser) c.140C>T c.844C>T (p.Pro282Ser) c.172C>T (p.Pro58Ser) | COSMIC COSMIC |
| 8 | g.43182169C>A | CA371118348 | HGSNAT | c.1037C>A (p.Pro346His) n.523C>A c.188C>A (p.Pro63His) c.278C>A (p.Pro93His) c.141C>A c.845C>A (p.Pro282His) c.173C>A (p.Pro58His) | |
| 8 | g.43182169C>G | CA371118350 | HGSNAT | c.1037C>G (p.Pro346Arg) n.523C>G c.188C>G (p.Pro63Arg) c.278C>G (p.Pro93Arg) c.141C>G c.845C>G (p.Pro282Arg) c.173C>G (p.Pro58Arg) | |
| 8 | g.43182169C>T | CA371118349 | HGSNAT | c.1037C>T (p.Pro346Leu) n.523C>T c.188C>T (p.Pro63Leu) c.278C>T (p.Pro93Leu) c.141C>T c.845C>T (p.Pro282Leu) c.173C>T (p.Pro58Leu) | |
| 8 | g.43182170T>A | CA460574658 | HGSNAT | c.1038T>A (p.Pro346=) n.524T>A c.189T>A (p.Pro63=) c.279T>A (p.Pro93=) c.142T>A c.846T>A (p.Pro282=) c.174T>A (p.Pro58=) | |
| 8 | g.43182170T>C | CA460574659 | HGSNAT | c.1038T>C (p.Pro346=) n.524T>C c.189T>C (p.Pro63=) c.279T>C (p.Pro93=) c.142T>C c.846T>C (p.Pro282=) c.174T>C (p.Pro58=) | |
| 8 | g.43182170T>G | CA460574660 | HGSNAT | c.1038T>G (p.Pro346=) n.524T>G c.189T>G (p.Pro63=) c.279T>G (p.Pro93=) c.142T>G c.846T>G (p.Pro282=) c.174T>G (p.Pro58=) | |
| 8 | g.43182171G>A | CA371118351 | HGSNAT | c.1039G>A (p.Gly347Ser) n.525G>A c.190G>A (p.Gly64Ser) c.280G>A (p.Gly94Ser) c.143G>A c.847G>A (p.Gly283Ser) c.175G>A (p.Gly59Ser) | |
| 8 | g.43182171G>C | CA371118352 | HGSNAT | c.1039G>C (p.Gly347Arg) n.525G>C c.190G>C (p.Gly64Arg) c.280G>C (p.Gly94Arg) c.143G>C c.847G>C (p.Gly283Arg) c.175G>C (p.Gly59Arg) | |
| 8 | g.43182171G>T | CA371118353 | HGSNAT | c.1039G>T (p.Gly347Cys) n.525G>T c.190G>T (p.Gly64Cys) c.280G>T (p.Gly94Cys) c.143G>T c.847G>T (p.Gly283Cys) c.175G>T (p.Gly59Cys) | |
| 8 | g.43182172G>A | CA4736735 | HGSNAT | c.1040G>A (p.Gly347Asp) n.526G>A c.191G>A (p.Gly64Asp) c.281G>A (p.Gly94Asp) c.144G>A c.848G>A (p.Gly283Asp) c.176G>A (p.Gly59Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.43182172G>C | CA176069376 | HGSNAT | c.1040G>C (p.Gly347Ala) n.526G>C c.191G>C (p.Gly64Ala) c.281G>C (p.Gly94Ala) c.144G>C c.848G>C (p.Gly283Ala) c.176G>C (p.Gly59Ala) | dbSNP |
| 8 | g.43182172G= | CA1779774364 | HGSNAT | c.1040G= (p.Gly347=) n.526G= c.191G= (p.Gly64=) c.281G= (p.Gly94=) c.144G= c.848G= (p.Gly283=) c.176G= (p.Gly59=) | |
| 8 | g.43182172G>T | CA371118354 | HGSNAT | c.1040G>T (p.Gly347Val) n.526G>T c.191G>T (p.Gly64Val) c.281G>T (p.Gly94Val) c.144G>T c.848G>T (p.Gly283Val) c.176G>T (p.Gly59Val) | |
| 8 | g.43182173T>A | CA460574661 | HGSNAT | c.1041T>A (p.Gly347=) n.527T>A c.192T>A (p.Gly64=) c.282T>A (p.Gly94=) c.145T>A c.849T>A (p.Gly283=) c.177T>A (p.Gly59=) | |
| 8 | g.43182173T>C | CA460574663 | HGSNAT | c.1041T>C (p.Gly347=) n.527T>C c.192T>C (p.Gly64=) c.282T>C (p.Gly94=) c.145T>C c.849T>C (p.Gly283=) c.177T>C (p.Gly59=) | |
| 8 | g.43182173T>G | CA460574662 | HGSNAT | c.1041T>G (p.Gly347=) n.527T>G c.192T>G (p.Gly64=) c.282T>G (p.Gly94=) c.145T>G c.849T>G (p.Gly283=) c.177T>G (p.Gly59=) | |
| 8 | g.43182174G>A | CA371118355 | HGSNAT | c.1042G>A (p.Val348Met) n.528G>A c.193G>A (p.Val65Met) c.283G>A (p.Val95Met) c.146G>A c.850G>A (p.Val284Met) c.178G>A (p.Val60Met) | ClinVar dbSNP |
| 8 | g.43182174G>C | CA371118356 | HGSNAT | c.1042G>C (p.Val348Leu) n.528G>C c.193G>C (p.Val65Leu) c.283G>C (p.Val95Leu) c.146G>C c.850G>C (p.Val284Leu) c.178G>C (p.Val60Leu) | |
| 8 | g.43182174G= | CA1779774365 | HGSNAT | c.1042G= (p.Val348=) n.528G= c.193G= (p.Val65=) c.283G= (p.Val95=) c.146G= c.850G= (p.Val284=) c.178G= (p.Val60=) | |
| 8 | g.43182174G>T | CA371118357 | HGSNAT | c.1042G>T (p.Val348Leu) n.528G>T c.193G>T (p.Val65Leu) c.283G>T (p.Val95Leu) c.146G>T c.850G>T (p.Val284Leu) c.178G>T (p.Val60Leu) | gnomAD v4 |
| 8 | g.43182174_43182177delinsGTGC | CA1779774366 | HGSNAT | c.1042_1045delinsGTGC (p.Val348=) n.528_531delinsGTGC c.193_196delinsGTGC (p.Val65=) c.283_286delinsGTGC (p.Val95=) c.146_149delinsGTGC c.850_853delinsGTGC (p.Val284=) c.178_181delinsGTGC (p.Val60=) | |
| 8 | g.43182175T>A | CA371118360 | HGSNAT | c.1043T>A (p.Val348Glu) n.529T>A c.194T>A (p.Val65Glu) c.284T>A (p.Val95Glu) c.147T>A c.851T>A (p.Val284Glu) c.179T>A (p.Val60Glu) | |
| 8 | g.43182175T>C | CA371118359 | HGSNAT | c.1043T>C (p.Val348Ala) n.529T>C c.194T>C (p.Val65Ala) c.284T>C (p.Val95Ala) c.147T>C c.851T>C (p.Val284Ala) c.179T>C (p.Val60Ala) | |
| 8 | g.43182175T>G | CA371118358 | HGSNAT | c.1043T>G (p.Val348Gly) n.529T>G c.194T>G (p.Val65Gly) c.284T>G (p.Val95Gly) c.147T>G c.851T>G (p.Val284Gly) c.179T>G (p.Val60Gly) | |
| 8 | g.43182178_43182180del | CA581929242 | HGSNAT | c.1046_1048del (p.Leu349del) n.532_534del c.197_199del (p.Leu66del) c.287_289del (p.Leu96del) c.150_152del c.854_856del (p.Leu285del) c.182_184del (p.Leu61del) | dbSNP gnomAD v2 |