| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.120626399T>A | CA414207031 | C1GALT1C1 | c.768A>T (p.Lys256Asn) | |
| X | g.120626399T>C | CA518448282 | C1GALT1C1 | c.768A>G (p.Lys256=) | |
| X | g.120626399T>G | CA414207034 | C1GALT1C1 | c.768A>C (p.Lys256Asn) | |
| X | g.120626400T>A | CA414207036 | C1GALT1C1 | c.767A>T (p.Lys256Ile) | |
| X | g.120626400T>C | CA414207040 | C1GALT1C1 | c.767A>G (p.Lys256Arg) | |
| X | g.120626400T>G | CA414207038 | C1GALT1C1 | c.767A>C (p.Lys256Thr) | |
| X | g.120626401T>A | CA414207042 | C1GALT1C1 | c.766A>T (p.Lys256Ter) | |
| X | g.120626401T>C | CA414207044 | C1GALT1C1 | c.766A>G (p.Lys256Glu) | |
| X | g.120626401T>G | CA414207046 | C1GALT1C1 | c.766A>C (p.Lys256Gln) | gnomAD v4 |
| X | g.120626402A= | CA2454930923 | C1GALT1C1 | c.765T= (p.Ile255=) | |
| X | g.120626402A>C | CA414207047 | C1GALT1C1 | c.765T>G (p.Ile255Met) | |
| X | g.120626402A>G | CA518448288 | C1GALT1C1 | c.765T>C (p.Ile255=) | dbSNP |
| X | g.120626402A>T | CA518448290 | C1GALT1C1 | c.765T>A (p.Ile255=) | |
| X | g.120626403A>C | CA414207050 | C1GALT1C1 | c.764T>G (p.Ile255Ser) | |
| X | g.120626403A>G | CA414207051 | C1GALT1C1 | c.764T>C (p.Ile255Thr) | |
| X | g.120626403A>T | CA414207053 | C1GALT1C1 | c.764T>A (p.Ile255Asn) | |
| X | g.120626404T>A | CA414207056 | C1GALT1C1 | c.763A>T (p.Ile255Phe) | |
| X | g.120626404T>C | CA414207058 | C1GALT1C1 | c.763A>G (p.Ile255Val) | ClinVar gnomAD v4 |
| X | g.120626404T>G | CA414207059 | C1GALT1C1 | c.763A>C (p.Ile255Leu) | |
| X | g.120626405A>C | CA518448295 | C1GALT1C1 | c.762T>G (p.Ser254=) | |
| X | g.120626405A>G | CA518448293 | C1GALT1C1 | c.762T>C (p.Ser254=) | |
| X | g.120626405A>T | CA518448294 | C1GALT1C1 | c.762T>A (p.Ser254=) | |
| X | g.120626406G>A | CA414207066 | C1GALT1C1 | c.761C>T (p.Ser254Phe) | COSMIC |
| X | g.120626406G>C | CA414207065 | C1GALT1C1 | c.761C>G (p.Ser254Cys) | |
| X | g.120626406G>T | CA414207063 | C1GALT1C1 | c.761C>A (p.Ser254Tyr) | |
| X | g.120626406dup | CA2823267472 | C1GALT1C1 | c.761dup (p.Ile255TyrfsTer2) | |
| X | g.120626407A= | CA2454930925 | C1GALT1C1 | c.760T= (p.Ser254=) | |
| X | g.120626407A>C | CA414207068 | C1GALT1C1 | c.760T>G (p.Ser254Ala) | |
| X | g.120626407A>G | CA414207070 | C1GALT1C1 | c.760T>C (p.Ser254Pro) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.120626407A>T | CA414207072 | C1GALT1C1 | c.760T>A (p.Ser254Thr) | |
| X | g.120626408A>C | CA518448298 | C1GALT1C1 | c.759T>G (p.Leu253=) | |
| X | g.120626408A>G | CA518448299 | C1GALT1C1 | c.759T>C (p.Leu253=) | |
| X | g.120626408A>T | CA518448300 | C1GALT1C1 | c.759T>A (p.Leu253=) | |
| X | g.120626409A>C | CA414207074 | C1GALT1C1 | c.758T>G (p.Leu253Arg) | |
| X | g.120626409A>G | CA414207076 | C1GALT1C1 | c.758T>C (p.Leu253Pro) | |
| X | g.120626409A>T | CA414207078 | C1GALT1C1 | c.758T>A (p.Leu253His) | |
| X | g.120626410G>A | CA414207080 | C1GALT1C1 | c.757C>T (p.Leu253Phe) | |
| X | g.120626410G>C | CA414207082 | C1GALT1C1 | c.757C>G (p.Leu253Val) | |
| X | g.120626410G>T | CA414207084 | C1GALT1C1 | c.757C>A (p.Leu253Ile) | |
| X | g.120626411C>A | CA518448304 | C1GALT1C1 | c.756G>T (p.Gly252=) | |
| X | g.120626411C= | CA2454930927 | C1GALT1C1 | c.756G= (p.Gly252=) | |
| X | g.120626411C>G | CA518448306 | C1GALT1C1 | c.756G>C (p.Gly252=) | gnomAD v4 |
| X | g.120626411C>T | CA10505932 | C1GALT1C1 | c.756G>A (p.Gly252=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.120626412C>A | CA414207087 | C1GALT1C1 | c.755G>T (p.Gly252Val) | gnomAD v4 |
| X | g.120626412C= | CA2454930928 | C1GALT1C1 | c.755G= (p.Gly252=) | |
| X | g.120626412C>G | CA414207089 | C1GALT1C1 | c.755G>C (p.Gly252Ala) | |
| X | g.120626412C>T | CA10505933 | C1GALT1C1 | c.755G>A (p.Gly252Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120626413C>A | CA414207096 | C1GALT1C1 | c.754G>T (p.Gly252Trp) | |
| X | g.120626413C>G | CA414207093 | C1GALT1C1 | c.754G>C (p.Gly252Arg) | |
| X | g.120626413C>T | CA414207095 | C1GALT1C1 | c.754G>A (p.Gly252Arg) | |
| X | g.120626414A>C | CA518448312 | C1GALT1C1 | c.753T>G (p.Val251=) | |
| X | g.120626414A>G | CA518448314 | C1GALT1C1 | c.753T>C (p.Val251=) | |
| X | g.120626414A>T | CA518448315 | C1GALT1C1 | c.753T>A (p.Val251=) | |
| X | g.120626415A>C | CA414207099 | C1GALT1C1 | c.752T>G (p.Val251Gly) | |
| X | g.120626415A>G | CA414207101 | C1GALT1C1 | c.752T>C (p.Val251Ala) | COSMIC |
| X | g.120626415A>T | CA414207103 | C1GALT1C1 | c.752T>A (p.Val251Asp) | gnomAD v4 |
| X | g.120626416C>A | CA414207105 | C1GALT1C1 | c.751G>T (p.Val251Phe) | gnomAD v4 |
| X | g.120626416C= | CA2454930930 | C1GALT1C1 | c.751G= (p.Val251=) | |
| X | g.120626416C>G | CA414207107 | C1GALT1C1 | c.751G>C (p.Val251Leu) | |
| X | g.120626416C>T | CA10505934 | C1GALT1C1 | c.751G>A (p.Val251Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120626417A= | CA2454930931 | C1GALT1C1 | c.750T= (p.Ser250=) | |
| X | g.120626417A>C | CA518448318 | C1GALT1C1 | c.750T>G (p.Ser250=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.120626417A>G | CA518448319 | C1GALT1C1 | c.750T>C (p.Ser250=) | |
| X | g.120626417A>T | CA518448320 | C1GALT1C1 | c.750T>A (p.Ser250=) | |
| X | g.120626418G>A | CA414207111 | C1GALT1C1 | c.749C>T (p.Ser250Phe) | |
| X | g.120626418G>C | CA414207113 | C1GALT1C1 | c.749C>G (p.Ser250Cys) | |
| X | g.120626418G>T | CA414207114 | C1GALT1C1 | c.749C>A (p.Ser250Tyr) | COSMIC |
| X | g.120626419A>C | CA414207115 | C1GALT1C1 | c.748T>G (p.Ser250Ala) | |
| X | g.120626419A>G | CA414207117 | C1GALT1C1 | c.748T>C (p.Ser250Pro) | |
| X | g.120626419A>T | CA414207118 | C1GALT1C1 | c.748T>A (p.Ser250Thr) | |
| X | g.120626420T>A | CA414207119 | C1GALT1C1 | c.747A>T (p.Lys249Asn) | |
| X | g.120626420T>C | CA518448323 | C1GALT1C1 | c.747A>G (p.Lys249=) | |
| X | g.120626420T>G | CA414207120 | C1GALT1C1 | c.747A>C (p.Lys249Asn) | |
| X | g.120626421T>A | CA414207121 | C1GALT1C1 | c.746A>T (p.Lys249Ile) | |
| X | g.120626421T>C | CA414207125 | C1GALT1C1 | c.746A>G (p.Lys249Arg) | gnomAD v4 |
| X | g.120626421T>G | CA414207123 | C1GALT1C1 | c.746A>C (p.Lys249Thr) | |
| X | g.120626422T>A | CA414207127 | C1GALT1C1 | c.745A>T (p.Lys249Ter) | |
| X | g.120626422T>C | CA414207131 | C1GALT1C1 | c.745A>G (p.Lys249Glu) | |
| X | g.120626422T>G | CA414207129 | C1GALT1C1 | c.745A>C (p.Lys249Gln) | |
| X | g.120626423G>A | CA10505935 | C1GALT1C1 | c.744C>T (p.Thr248=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.120626423G>C | CA518448326 | C1GALT1C1 | c.744C>G (p.Thr248=) | |
| X | g.120626423G= | CA2454930933 | C1GALT1C1 | c.744C= (p.Thr248=) | |
| X | g.120626423G>T | CA518448328 | C1GALT1C1 | c.744C>A (p.Thr248=) | |
| X | g.120626424G>A | CA414207136 | C1GALT1C1 | c.743C>T (p.Thr248Ile) | |
| X | g.120626424G>C | CA414207134 | C1GALT1C1 | c.743C>G (p.Thr248Ser) | |
| X | g.120626424G= | CA2454930935 | C1GALT1C1 | c.743C= (p.Thr248=) | |
| X | g.120626424G>T | CA414207138 | C1GALT1C1 | c.743C>A (p.Thr248Asn) | dbSNP |
| X | g.120626425T>A | CA414207140 | C1GALT1C1 | c.742A>T (p.Thr248Ser) | |
| X | g.120626425T>C | CA414207141 | C1GALT1C1 | c.742A>G (p.Thr248Ala) | |
| X | g.120626425T>G | CA414207142 | C1GALT1C1 | c.742A>C (p.Thr248Pro) | |
| X | g.120626426A>C | CA414207144 | C1GALT1C1 | c.741T>G (p.Asn247Lys) | |
| X | g.120626426A>G | CA518448330 | C1GALT1C1 | c.741T>C (p.Asn247=) | gnomAD v3 gnomAD v4 |
| X | g.120626426A>T | CA414207145 | C1GALT1C1 | c.741T>A (p.Asn247Lys) | |
| X | g.120626427T>A | CA414207147 | C1GALT1C1 | c.740A>T (p.Asn247Ile) | gnomAD v4 |
| X | g.120626427T>C | CA414207149 | C1GALT1C1 | c.740A>G (p.Asn247Ser) | |
| X | g.120626427T>G | CA414207151 | C1GALT1C1 | c.740A>C (p.Asn247Thr) | |
| X | g.120626428T>A | CA414207153 | C1GALT1C1 | c.739A>T (p.Asn247Tyr) | |
| X | g.120626428T>C | CA414207155 | C1GALT1C1 | c.739A>G (p.Asn247Asp) | |
| X | g.120626428T>G | CA414207157 | C1GALT1C1 | c.739A>C (p.Asn247His) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.120626428T= | CA2454930937 | C1GALT1C1 | c.739A= (p.Asn247=) | |
| X | g.120626429A>C | CA414207163 | C1GALT1C1 | c.738T>G (p.Phe246Leu) | |
| X | g.120626429A>G | CA518448338 | C1GALT1C1 | c.738T>C (p.Phe246=) | |
| X | g.120626429A>T | CA414207160 | C1GALT1C1 | c.738T>A (p.Phe246Leu) | |
| X | g.120626430A>C | CA414207166 | C1GALT1C1 | c.737T>G (p.Phe246Cys) | gnomAD v3 gnomAD v4 |
| X | g.120626430A>G | CA414207169 | C1GALT1C1 | c.737T>C (p.Phe246Ser) | |
| X | g.120626430A>T | CA414207172 | C1GALT1C1 | c.737T>A (p.Phe246Tyr) | |
| X | g.120626431A>C | CA414207178 | C1GALT1C1 | c.736T>G (p.Phe246Val) | |
| X | g.120626431A>G | CA414207185 | C1GALT1C1 | c.736T>C (p.Phe246Leu) | |
| X | g.120626431A>T | CA414207187 | C1GALT1C1 | c.736T>A (p.Phe246Ile) | |
| X | g.120626432T>A | CA518448341 | C1GALT1C1 | c.735A>T (p.Val245=) | |
| X | g.120626432T>C | CA518448343 | C1GALT1C1 | c.735A>G (p.Val245=) | gnomAD v4 |
| X | g.120626432T>G | CA518448345 | C1GALT1C1 | c.735A>C (p.Val245=) | |
| X | g.120626433A>C | CA414207191 | C1GALT1C1 | c.734T>G (p.Val245Gly) | |
| X | g.120626433A>G | CA414207194 | C1GALT1C1 | c.734T>C (p.Val245Ala) | |
| X | g.120626433A>T | CA414207195 | C1GALT1C1 | c.734T>A (p.Val245Glu) | |
| X | g.120626434C>A | CA414207197 | C1GALT1C1 | c.733G>T (p.Val245Leu) | |
| X | g.120626434C>G | CA414207199 | C1GALT1C1 | c.733G>C (p.Val245Leu) | |
| X | g.120626434C>T | CA414207201 | C1GALT1C1 | c.733G>A (p.Val245Ile) | |
| X | g.120626435A>C | CA414207206 | C1GALT1C1 | c.732T>G (p.Asp244Glu) | |
| X | g.120626435A>G | CA518448351 | C1GALT1C1 | c.732T>C (p.Asp244=) | COSMIC |
| X | g.120626435A>T | CA414207204 | C1GALT1C1 | c.732T>A (p.Asp244Glu) | |
| X | g.120626436T>A | CA414207207 | C1GALT1C1 | c.731A>T (p.Asp244Val) | |
| X | g.120626436T>C | CA414207208 | C1GALT1C1 | c.731A>G (p.Asp244Gly) | |
| X | g.120626436T>G | CA414207209 | C1GALT1C1 | c.731A>C (p.Asp244Ala) | |
| X | g.120626437C>A | CA414207211 | C1GALT1C1 | c.730G>T (p.Asp244Tyr) | gnomAD v4 |
| X | g.120626437C= | CA2454930939 | C1GALT1C1 | c.730G= (p.Asp244=) | |
| X | g.120626437C>G | CA414207213 | C1GALT1C1 | c.730G>C (p.Asp244His) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.120626437C>T | CA414207215 | C1GALT1C1 | c.730G>A (p.Asp244Asn) | |
| X | g.120626438T>A | CA414207227 | C1GALT1C1 | c.729A>T (p.Lys243Asn) | |
| X | g.120626438T>C | CA10505936 | C1GALT1C1 | c.729A>G (p.Lys243=) | dbSNP ExAC gnomAD v4 |
| X | g.120626438T>G | CA414207232 | C1GALT1C1 | c.729A>C (p.Lys243Asn) | |
| X | g.120626438T= | CA2454930941 | C1GALT1C1 | c.729A= (p.Lys243=) | |
| X | g.120626439T>A | CA414207236 | C1GALT1C1 | c.728A>T (p.Lys243Ile) | |
| X | g.120626439T>C | CA414207239 | C1GALT1C1 | c.728A>G (p.Lys243Arg) | |
| X | g.120626439T>G | CA414207242 | C1GALT1C1 | c.728A>C (p.Lys243Thr) | |
| X | g.120626440T>A | CA414207248 | C1GALT1C1 | c.727A>T (p.Lys243Ter) | |
| X | g.120626440T>C | CA414207245 | C1GALT1C1 | c.727A>G (p.Lys243Glu) | |
| X | g.120626440T>G | CA414207244 | C1GALT1C1 | c.727A>C (p.Lys243Gln) | |
| X | g.120626440T= | CA2454930942 | C1GALT1C1 | c.727A= (p.Lys243=) | |
| X | g.120626440_120626441insGTATAGGACGTGTGTTGTCA | CA10505937 | C1GALT1C1 | c.726_727insTGACAACACACGTCCTATAC (p.Lys243Ter) | dbSNP ExAC |
| X | g.120626441T>A | CA518448363 | C1GALT1C1 | c.726A>T (p.Gly242=) | |
| X | g.120626441T>C | CA518448361 | C1GALT1C1 | c.726A>G (p.Gly242=) | |
| X | g.120626441T>G | CA518448362 | C1GALT1C1 | c.726A>C (p.Gly242=) | |
| X | g.120626442C>A | CA414207261 | C1GALT1C1 | c.725G>T (p.Gly242Val) | |
| X | g.120626442C>G | CA414207264 | C1GALT1C1 | c.725G>C (p.Gly242Ala) | |
| X | g.120626442C>T | CA414207267 | C1GALT1C1 | c.725G>A (p.Gly242Glu) | |
| X | g.120626443C>A | CA414207271 | C1GALT1C1 | c.724G>T (p.Gly242Ter) | |
| X | g.120626443C>G | CA414207273 | C1GALT1C1 | c.724G>C (p.Gly242Arg) | |
| X | g.120626443C>T | CA414207276 | C1GALT1C1 | c.724G>A (p.Gly242Arg) | |
| X | g.120626444A>C | CA414207279 | C1GALT1C1 | c.723T>G (p.Asp241Glu) | |
| X | g.120626444A>G | CA518448370 | C1GALT1C1 | c.723T>C (p.Asp241=) | gnomAD v4 |
| X | g.120626444A>T | CA414207282 | C1GALT1C1 | c.723T>A (p.Asp241Glu) | |
| X | g.120626445T>A | CA414207285 | C1GALT1C1 | c.722A>T (p.Asp241Val) | |
| X | g.120626445T>C | CA414207293 | C1GALT1C1 | c.722A>G (p.Asp241Gly) | |
| X | g.120626445T>G | CA414207296 | C1GALT1C1 | c.722A>C (p.Asp241Ala) | |
| X | g.120626446C>A | CA414207304 | C1GALT1C1 | c.721G>T (p.Asp241Tyr) | gnomAD v4 |
| X | g.120626446C>G | CA414207301 | C1GALT1C1 | c.721G>C (p.Asp241His) | |
| X | g.120626446C>T | CA414207298 | C1GALT1C1 | c.721G>A (p.Asp241Asn) | |
| X | g.120626447A>C | CA518448377 | C1GALT1C1 | c.720T>G (p.Ala240=) | |
| X | g.120626447A>G | CA518448379 | C1GALT1C1 | c.720T>C (p.Ala240=) | |
| X | g.120626447A>T | CA518448378 | C1GALT1C1 | c.720T>A (p.Ala240=) | |
| X | g.120626448G>A | CA414207307 | C1GALT1C1 | c.719C>T (p.Ala240Val) | COSMIC |
| X | g.120626448G>C | CA414207312 | C1GALT1C1 | c.719C>G (p.Ala240Gly) | |
| X | g.120626448G>T | CA414207310 | C1GALT1C1 | c.719C>A (p.Ala240Asp) | |
| X | g.120626449C>A | CA414207316 | C1GALT1C1 | c.718G>T (p.Ala240Ser) | |
| X | g.120626449C>G | CA414207318 | C1GALT1C1 | c.718G>C (p.Ala240Pro) | |
| X | g.120626449C>T | CA414207321 | C1GALT1C1 | c.718G>A (p.Ala240Thr) | |
| X | g.120626450A>C | CA414207324 | C1GALT1C1 | c.717T>G (p.Asp239Glu) | |
| X | g.120626450A>G | CA518448383 | C1GALT1C1 | c.717T>C (p.Asp239=) | |
| X | g.120626450A>T | CA414207327 | C1GALT1C1 | c.717T>A (p.Asp239Glu) | |
| X | g.120626451T>A | CA414207331 | C1GALT1C1 | c.716A>T (p.Asp239Val) | |
| X | g.120626451T>C | CA414207333 | C1GALT1C1 | c.716A>G (p.Asp239Gly) | |
| X | g.120626451T>G | CA414207335 | C1GALT1C1 | c.716A>C (p.Asp239Ala) | |
| X | g.120626452C>A | CA414207339 | C1GALT1C1 | c.715G>T (p.Asp239Tyr) | |
| X | g.120626452C>G | CA414207342 | C1GALT1C1 | c.715G>C (p.Asp239His) | |
| X | g.120626452C>T | CA414207344 | C1GALT1C1 | c.715G>A (p.Asp239Asn) | |
| X | g.120626452_120626461delinsCTTCTGCATT | CA2454930944 | C1GALT1C1 | c.706_715delinsAATGCAGAAG (p.Asn236=) | |
| X | g.120626453T>A | CA414207353 | C1GALT1C1 | c.714A>T (p.Glu238Asp) | |
| X | g.120626453T>C | CA518448384 | C1GALT1C1 | c.714A>G (p.Glu238=) | |
| X | g.120626453T>G | CA414207350 | C1GALT1C1 | c.714A>C (p.Glu238Asp) | |
| X | g.120626460_120626468del | CA644574599 | C1GALT1C1 | c.706_714del (p.Asn236_Glu238del) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.120626454T>A | CA414207360 | C1GALT1C1 | c.713A>T (p.Glu238Val) | |
| X | g.120626454T>C | CA414207362 | C1GALT1C1 | c.713A>G (p.Glu238Gly) | |
| X | g.120626454T>G | CA414207366 | C1GALT1C1 | c.713A>C (p.Glu238Ala) | |
| X | g.120626455C>A | CA414207369 | C1GALT1C1 | c.712G>T (p.Glu238Ter) | |
| X | g.120626455C>G | CA414207372 | C1GALT1C1 | c.712G>C (p.Glu238Gln) | |
| X | g.120626455C>T | CA414207375 | C1GALT1C1 | c.712G>A (p.Glu238Lys) | gnomAD v4 |
| X | g.120626456T>A | CA518448387 | C1GALT1C1 | c.711A>T (p.Ala237=) | |
| X | g.120626456T>C | CA518448388 | C1GALT1C1 | c.711A>G (p.Ala237=) | |
| X | g.120626456T>G | CA518448389 | C1GALT1C1 | c.711A>C (p.Ala237=) | |
| X | g.120626457G>A | CA414207378 | C1GALT1C1 | c.710C>T (p.Ala237Val) | |
| X | g.120626457G>C | CA414207381 | C1GALT1C1 | c.710C>G (p.Ala237Gly) | |
| X | g.120626457G>T | CA414207383 | C1GALT1C1 | c.710C>A (p.Ala237Glu) | |
| X | g.120626458C>A | CA414207386 | C1GALT1C1 | c.709G>T (p.Ala237Ser) | |
| X | g.120626458C>G | CA414207388 | C1GALT1C1 | c.709G>C (p.Ala237Pro) | |
| X | g.120626458C>T | CA414207392 | C1GALT1C1 | c.709G>A (p.Ala237Thr) | |
| X | g.120626459A= | CA2454930946 | C1GALT1C1 | c.708T= (p.Asn236=) | |
| X | g.120626459A>C | CA414207401 | C1GALT1C1 | c.708T>G (p.Asn236Lys) | |
| X | g.120626459A>G | CA518448395 | C1GALT1C1 | c.708T>C (p.Asn236=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.120626459A>T | CA414207396 | C1GALT1C1 | c.708T>A (p.Asn236Lys) | |
| X | g.120626460T>A | CA414207404 | C1GALT1C1 | c.707A>T (p.Asn236Ile) | |
| X | g.120626460T>C | CA414207407 | C1GALT1C1 | c.707A>G (p.Asn236Ser) | |
| X | g.120626460T>G | CA414207408 | C1GALT1C1 | c.707A>C (p.Asn236Thr) | |
| X | g.120626461T>A | CA414207411 | C1GALT1C1 | c.706A>T (p.Asn236Tyr) | |
| X | g.120626461T>C | CA414207413 | C1GALT1C1 | c.706A>G (p.Asn236Asp) | |
| X | g.120626461T>G | CA414207415 | C1GALT1C1 | c.706A>C (p.Asn236His) | |
| X | g.120626462T>A | CA414207421 | C1GALT1C1 | c.705A>T (p.Glu235Asp) | |
| X | g.120626462T>C | CA518448401 | C1GALT1C1 | c.705A>G (p.Glu235=) | |
| X | g.120626462T>G | CA414207419 | C1GALT1C1 | c.705A>C (p.Glu235Asp) | |
| X | g.120626463T>A | CA414207423 | C1GALT1C1 | c.704A>T (p.Glu235Val) | |
| X | g.120626463T>C | CA414207426 | C1GALT1C1 | c.704A>G (p.Glu235Gly) | |
| X | g.120626463T>G | CA414207429 | C1GALT1C1 | c.704A>C (p.Glu235Ala) | |
| X | g.120626464C>A | CA414207433 | C1GALT1C1 | c.703G>T (p.Glu235Ter) | |
| X | g.120626464C>G | CA414207436 | C1GALT1C1 | c.703G>C (p.Glu235Gln) | |
| X | g.120626464C>T | CA414207438 | C1GALT1C1 | c.703G>A (p.Glu235Lys) | |
| X | g.120626465T>A | CA518448410 | C1GALT1C1 | c.702A>T (p.Ala234=) | |
| X | g.120626465T>C | CA518448411 | C1GALT1C1 | c.702A>G (p.Ala234=) | |
| X | g.120626465T>G | CA518448412 | C1GALT1C1 | c.702A>C (p.Ala234=) | |
| X | g.120626466G>A | CA414207441 | C1GALT1C1 | c.701C>T (p.Ala234Val) | |
| X | g.120626466G>C | CA414207453 | C1GALT1C1 | c.701C>G (p.Ala234Gly) | |
| X | g.120626466G>T | CA414207451 | C1GALT1C1 | c.701C>A (p.Ala234Glu) | |
| X | g.120626467C>A | CA414207456 | C1GALT1C1 | c.700G>T (p.Ala234Ser) | |
| X | g.120626467C>G | CA414207463 | C1GALT1C1 | c.700G>C (p.Ala234Pro) | |
| X | g.120626467C>T | CA414207466 | C1GALT1C1 | c.700G>A (p.Ala234Thr) | |
| X | g.120626468A>C | CA414207469 | C1GALT1C1 | c.699T>G (p.Phe233Leu) | |
| X | g.120626468A>G | CA518448419 | C1GALT1C1 | c.699T>C (p.Phe233=) | |
| X | g.120626468A>T | CA414207471 | C1GALT1C1 | c.699T>A (p.Phe233Leu) | |
| X | g.120626469A>C | CA414207476 | C1GALT1C1 | c.698T>G (p.Phe233Cys) | |
| X | g.120626469A>G | CA414207478 | C1GALT1C1 | c.698T>C (p.Phe233Ser) | |
| X | g.120626469A>T | CA414207481 | C1GALT1C1 | c.698T>A (p.Phe233Tyr) | |
| X | g.120626470A>C | CA414207483 | C1GALT1C1 | c.697T>G (p.Phe233Val) | |
| X | g.120626470A>G | CA414207485 | C1GALT1C1 | c.697T>C (p.Phe233Leu) | |
| X | g.120626470A>T | CA414207487 | C1GALT1C1 | c.697T>A (p.Phe233Ile) | |
| X | g.120626471T>A | CA518448424 | C1GALT1C1 | c.696A>T (p.Val232=) | |
| X | g.120626471T>C | CA518448425 | C1GALT1C1 | c.696A>G (p.Val232=) | |
| X | g.120626471T>G | CA518448426 | C1GALT1C1 | c.696A>C (p.Val232=) | |
| X | g.120626472A>C | CA414207491 | C1GALT1C1 | c.695T>G (p.Val232Gly) | |
| X | g.120626472A>G | CA414207492 | C1GALT1C1 | c.695T>C (p.Val232Ala) | |
| X | g.120626472A>T | CA414207490 | C1GALT1C1 | c.695T>A (p.Val232Glu) | |
| X | g.120626473C>A | CA414207497 | C1GALT1C1 | c.694G>T (p.Val232Leu) | |
| X | g.120626473C>G | CA414207494 | C1GALT1C1 | c.694G>C (p.Val232Leu) | |
| X | g.120626473C>T | CA414207496 | C1GALT1C1 | c.694G>A (p.Val232Ile) | |
| X | g.120626474T>A | CA518448431 | C1GALT1C1 | c.693A>T (p.Gly231=) | |
| X | g.120626474T>C | CA518448432 | C1GALT1C1 | c.693A>G (p.Gly231=) | |
| X | g.120626474T>G | CA518448434 | C1GALT1C1 | c.693A>C (p.Gly231=) | |
| X | g.120626475C>A | CA414207510 | C1GALT1C1 | c.692G>T (p.Gly231Val) | |
| X | g.120626475C>G | CA414207513 | C1GALT1C1 | c.692G>C (p.Gly231Ala) | gnomAD v4 |
| X | g.120626475C>T | CA414207516 | C1GALT1C1 | c.692G>A (p.Gly231Glu) | |
| X | g.120626476C>A | CA414207520 | C1GALT1C1 | c.691G>T (p.Gly231Ter) | |
| X | g.120626476C>G | CA414207523 | C1GALT1C1 | c.691G>C (p.Gly231Arg) | |
| X | g.120626476C>T | CA414207526 | C1GALT1C1 | c.691G>A (p.Gly231Arg) | |
| X | g.120626477A= | CA2454930948 | C1GALT1C1 | c.690T= (p.Ala230=) | |
| X | g.120626477A>C | CA10505938 | C1GALT1C1 | c.690T>G (p.Ala230=) | dbSNP ExAC gnomAD v2 |
| X | g.120626477A>G | CA518448439 | C1GALT1C1 | c.690T>C (p.Ala230=) | dbSNP |
| X | g.120626477A>T | CA518448441 | C1GALT1C1 | c.690T>A (p.Ala230=) | |
| X | g.120626478G>A | CA10505939 | C1GALT1C1 | c.689C>T (p.Ala230Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.120626478G>C | CA414207533 | C1GALT1C1 | c.689C>G (p.Ala230Gly) | |
| X | g.120626478G= | CA2454930950 | C1GALT1C1 | c.689C= (p.Ala230=) | |
| X | g.120626478G>T | CA414207535 | C1GALT1C1 | c.689C>A (p.Ala230Asp) | |
| X | g.120626479C>A | CA414207538 | C1GALT1C1 | c.688G>T (p.Ala230Ser) | |
| X | g.120626479C>G | CA414207541 | C1GALT1C1 | c.688G>C (p.Ala230Pro) | |
| X | g.120626479C>T | CA414207543 | C1GALT1C1 | c.688G>A (p.Ala230Thr) | |
| X | g.120626480A= | CA2454930952 | C1GALT1C1 | c.687T= (p.Tyr229=) | |
| X | g.120626480A>C | CA414207546 | C1GALT1C1 | c.687T>G (p.Tyr229Ter) | |
| X | g.120626480A>G | CA10505940 | C1GALT1C1 | c.687T>C (p.Tyr229=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.120626480A>T | CA414207548 | C1GALT1C1 | c.687T>A (p.Tyr229Ter) | |
| X | g.120626481T>A | CA414207553 | C1GALT1C1 | c.686A>T (p.Tyr229Phe) | |
| X | g.120626481T>C | CA414207556 | C1GALT1C1 | c.686A>G (p.Tyr229Cys) | |
| X | g.120626481T>G | CA414207558 | C1GALT1C1 | c.686A>C (p.Tyr229Ser) | |
| X | g.120626482A= | CA2454930953 | C1GALT1C1 | c.685T= (p.Tyr229=) | |
| X | g.120626482A>C | CA414207562 | C1GALT1C1 | c.685T>G (p.Tyr229Asp) | |
| X | g.120626482A>G | CA414207565 | C1GALT1C1 | c.685T>C (p.Tyr229His) | dbSNP |
| X | g.120626482A>T | CA414207568 | C1GALT1C1 | c.685T>A (p.Tyr229Asn) | |
| X | g.120626483T>A | CA414207571 | C1GALT1C1 | c.684A>T (p.Lys228Asn) | |
| X | g.120626483T>C | CA518448445 | C1GALT1C1 | c.684A>G (p.Lys228=) | gnomAD v4 |
| X | g.120626483T>G | CA414207574 | C1GALT1C1 | c.684A>C (p.Lys228Asn) | |
| X | g.120626484T>A | CA334144901 | C1GALT1C1 | c.683A>T (p.Lys228Ile) | dbSNP |
| X | g.120626484T>C | CA414207579 | C1GALT1C1 | c.683A>G (p.Lys228Arg) | |
| X | g.120626484T>G | CA414207582 | C1GALT1C1 | c.683A>C (p.Lys228Thr) | gnomAD v4 |
| X | g.120626484T= | CA2454930955 | C1GALT1C1 | c.683A= (p.Lys228=) | |
| X | g.120626485T>A | CA414207586 | C1GALT1C1 | c.682A>T (p.Lys228Ter) | |
| X | g.120626485T>C | CA414207590 | C1GALT1C1 | c.682A>G (p.Lys228Glu) | |
| X | g.120626485T>G | CA414207587 | C1GALT1C1 | c.682A>C (p.Lys228Gln) | |
| X | g.120626486C>A | CA518448450 | C1GALT1C1 | c.681G>T (p.Leu227=) | |
| X | g.120626486C>G | CA518448451 | C1GALT1C1 | c.681G>C (p.Leu227=) | |
| X | g.120626486C>T | CA518448452 | C1GALT1C1 | c.681G>A (p.Leu227=) | |
| X | g.120626487A>C | CA414207592 | C1GALT1C1 | c.680T>G (p.Leu227Arg) | |
| X | g.120626487A>G | CA414207593 | C1GALT1C1 | c.680T>C (p.Leu227Pro) | |
| X | g.120626487A>T | CA414207594 | C1GALT1C1 | c.680T>A (p.Leu227Gln) | |
| X | g.120626488G>A | CA518448455 | C1GALT1C1 | c.679C>T (p.Leu227=) | COSMIC |
| X | g.120626488G>C | CA414207595 | C1GALT1C1 | c.679C>G (p.Leu227Val) | |
| X | g.120626488G>T | CA414207596 | C1GALT1C1 | c.679C>A (p.Leu227Met) | |
| X | g.120626489G>A | CA10505941 | C1GALT1C1 | c.678C>T (p.Cys226=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.120626489G>C | CA414207598 | C1GALT1C1 | c.678C>G (p.Cys226Trp) | |
| X | g.120626489G= | CA2454930957 | C1GALT1C1 | c.678C= (p.Cys226=) | |
| X | g.120626489G>T | CA414207603 | C1GALT1C1 | c.678C>A (p.Cys226Ter) | |
| X | g.120626490C>A | CA414207606 | C1GALT1C1 | c.677G>T (p.Cys226Phe) | |
| X | g.120626490C>G | CA414207609 | C1GALT1C1 | c.677G>C (p.Cys226Ser) | |
| X | g.120626490C>T | CA414207611 | C1GALT1C1 | c.677G>A (p.Cys226Tyr) | |
| X | g.120626491A>C | CA414207628 | C1GALT1C1 | c.676T>G (p.Cys226Gly) | |
| X | g.120626491A>G | CA414207626 | C1GALT1C1 | c.676T>C (p.Cys226Arg) | |
| X | g.120626491A>T | CA414207623 | C1GALT1C1 | c.676T>A (p.Cys226Ser) | |
| X | g.120626492A>C | CA518448456 | C1GALT1C1 | c.675T>G (p.Val225=) | |
| X | g.120626492A>G | CA518448457 | C1GALT1C1 | c.675T>C (p.Val225=) | |
| X | g.120626492A>T | CA518448458 | C1GALT1C1 | c.675T>A (p.Val225=) | |
| X | g.120626493A>C | CA414207631 | C1GALT1C1 | c.674T>G (p.Val225Gly) | |
| X | g.120626493A>G | CA414207634 | C1GALT1C1 | c.674T>C (p.Val225Ala) | |
| X | g.120626493A>T | CA414207635 | C1GALT1C1 | c.674T>A (p.Val225Asp) | |
| X | g.120626494C>A | CA414207637 | C1GALT1C1 | c.673G>T (p.Val225Phe) | |
| X | g.120626494C>G | CA414207641 | C1GALT1C1 | c.673G>C (p.Val225Leu) | |
| X | g.120626494C>T | CA414207647 | C1GALT1C1 | c.673G>A (p.Val225Ile) | |
| X | g.120626495T>A | CA518448463 | C1GALT1C1 | c.672A>T (p.Ala224=) | |
| X | g.120626495T>C | CA518448464 | C1GALT1C1 | c.672A>G (p.Ala224=) | |
| X | g.120626495T>G | CA518448465 | C1GALT1C1 | c.672A>C (p.Ala224=) | |
| X | g.120626496G>A | CA414207648 | C1GALT1C1 | c.671C>T (p.Ala224Val) | |
| X | g.120626496G>C | CA414207650 | C1GALT1C1 | c.671C>G (p.Ala224Gly) | |
| X | g.120626496G>T | CA414207656 | C1GALT1C1 | c.671C>A (p.Ala224Glu) | |
| X | g.120626497C>A | CA414207657 | C1GALT1C1 | c.670G>T (p.Ala224Ser) | |
| X | g.120626497C>G | CA414207658 | C1GALT1C1 | c.670G>C (p.Ala224Pro) | |
| X | g.120626497C>T | CA414207660 | C1GALT1C1 | c.670G>A (p.Ala224Thr) | |
| X | g.120626498T>A | CA518448468 | C1GALT1C1 | c.669A>T (p.Leu223=) | |
| X | g.120626498T>C | CA518448469 | C1GALT1C1 | c.669A>G (p.Leu223=) | dbSNP |
| X | g.120626498T>G | CA518448470 | C1GALT1C1 | c.669A>C (p.Leu223=) | gnomAD v4 |
| X | g.120626498T= | CA2454930960 | C1GALT1C1 | c.669A= (p.Leu223=) | |
| X | g.120626499A>C | CA414207664 | C1GALT1C1 | c.668T>G (p.Leu223Arg) | |
| X | g.120626499A>G | CA414207665 | C1GALT1C1 | c.668T>C (p.Leu223Pro) | |
| X | g.120626499A>T | CA414207662 | C1GALT1C1 | c.668T>A (p.Leu223Gln) |