Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.42903950_42903953dup | CA2638039976 | G6PC1 | c.250_253dup (p.Tyr85SerfsTer9) n.315_318dup | gnomAD v4 |
17 | g.42903950C>A | CA399653158 | G6PC1 | c.250C>A (p.Pro84Thr) n.315C>A | |
17 | g.42903950C>G | CA399653159 | G6PC1 | c.250C>G (p.Pro84Ala) n.315C>G | |
17 | g.42903950C>T | CA399653161 | G6PC1 | c.250C>T (p.Pro84Ser) n.315C>T | ClinVar gnomAD v4 COSMIC |
17 | g.42903951C>A | CA399653164 | G6PC1 | c.251C>A (p.Pro84Gln) n.316C>A | |
17 | g.42903951C>G | CA399653166 | G6PC1 | c.251C>G (p.Pro84Arg) n.316C>G | |
17 | g.42903951C>T | CA399653169 | G6PC1 | c.251C>T (p.Pro84Leu) n.316C>T | |
17 | g.42903952A= | CA2260694235 | G6PC1 | c.252A= (p.Pro84=) n.317A= | |
17 | g.42903952A>C | CA500102263 | G6PC1 | c.252A>C (p.Pro84=) n.317A>C | |
17 | g.42903952A>G | CA290785332 | G6PC1 | c.252A>G (p.Pro84=) n.317A>G | ClinVar dbSNP gnomAD v4 |
17 | g.42903952A>T | CA500102266 | G6PC1 | c.252A>T (p.Pro84=) n.317A>T | |
17 | g.42903953T>A | CA399653174 | G6PC1 | c.253T>A (p.Tyr85Asn) n.318T>A | |
17 | g.42903953T>C | CA399653175 | G6PC1 | c.253T>C (p.Tyr85His) n.318T>C | |
17 | g.42903953T>G | CA399653177 | G6PC1 | c.253T>G (p.Tyr85Asp) n.318T>G | |
17 | g.42903954A= | CA2260694236 | G6PC1 | c.254A= (p.Tyr85=) n.319A= | |
17 | g.42903954A>C | CA399653183 | G6PC1 | c.254A>C (p.Tyr85Ser) n.319A>C | |
17 | g.42903954A>G | CA290785335 | G6PC1 | c.254A>G (p.Tyr85Cys) n.319A>G | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42903954A>T | CA399653180 | G6PC1 | c.254A>T (p.Tyr85Phe) n.319A>T | |
17 | g.42903955C>A | CA399653186 | G6PC1 | c.255C>A (p.Tyr85Ter) n.320C>A | ClinVar dbSNP |
17 | g.42903955C= | CA2260694237 | G6PC1 | c.255C= (p.Tyr85=) n.320C= | |
17 | g.42903955C>G | CA399653189 | G6PC1 | c.255C>G (p.Tyr85Ter) n.320C>G | |
17 | g.42903955C>T | CA8587528 | G6PC1 | c.255C>T (p.Tyr85=) n.320C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42903956T>A | CA399653193 | G6PC1 | c.256T>A (p.Trp86Arg) n.321T>A | |
17 | g.42903956T>C | CA399653194 | G6PC1 | c.256T>C (p.Trp86Arg) n.321T>C | ClinVar dbSNP |
17 | g.42903956T>G | CA399653197 | G6PC1 | c.256T>G (p.Trp86Gly) n.321T>G | |
17 | g.42903956T= | CA2260694238 | G6PC1 | c.256T= (p.Trp86=) n.321T= | |
17 | g.42903957G>A | CA399653200 | G6PC1 | c.257G>A (p.Trp86Ter) n.322G>A | |
17 | g.42903957G>C | CA399653201 | G6PC1 | c.257G>C (p.Trp86Ser) n.322G>C | |
17 | g.42903957G>T | CA399653202 | G6PC1 | c.257G>T (p.Trp86Leu) n.322G>T | gnomAD v4 COSMIC |
17 | g.42903958del | CA2576280990 | G6PC1 | c.258del (p.Trp86CysfsTer16) n.323del | |
17 | g.42903958G>A | CA290785345 | G6PC1 | c.258G>A (p.Trp86Ter) n.323G>A | ClinVar dbSNP gnomAD v4 |
17 | g.42903958G>C | CA399653203 | G6PC1 | c.258G>C (p.Trp86Cys) n.323G>C | |
17 | g.42903958G= | CA2260694239 | G6PC1 | c.258G= (p.Trp86=) n.323G= | |
17 | g.42903958G>T | CA399653204 | G6PC1 | c.258G>T (p.Trp86Cys) n.323G>T | |
17 | g.42903959T>A | CA399653212 | G6PC1 | c.259T>A (p.Trp87Arg) n.324T>A | |
17 | g.42903959T>C | CA399653208 | G6PC1 | c.259T>C (p.Trp87Arg) n.324T>C | |
17 | g.42903959T>G | CA399653207 | G6PC1 | c.259T>G (p.Trp87Gly) n.324T>G | |
17 | g.42903959_42903960delinsTG | CA2260694240 | G6PC1 | c.259_260delinsTG (p.Trp87=) n.324_325delinsTG | |
17 | g.42903960G>A | CA399653216 | G6PC1 | c.260G>A (p.Trp87Ter) n.325G>A | |
17 | g.42903960G>C | CA399653218 | G6PC1 | c.260G>C (p.Trp87Ser) n.325G>C | |
17 | g.42903960G>T | CA399653227 | G6PC1 | c.260G>T (p.Trp87Leu) n.325G>T | |
17 | g.42903962del | CA8587529 | G6PC1 | c.262del (p.Val88PhefsTer14) n.327del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42903961G>A | CA399653233 | G6PC1 | c.261G>A (p.Trp87Ter) n.326G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.42903961G>C | CA399653235 | G6PC1 | c.261G>C (p.Trp87Cys) n.326G>C | |
17 | g.42903961G= | CA2260694241 | G6PC1 | c.261G= (p.Trp87=) n.326G= | |
17 | g.42903961G>T | CA399653236 | G6PC1 | c.261G>T (p.Trp87Cys) n.326G>T | |
17 | g.42903962G>A | CA399653238 | G6PC1 | c.262G>A (p.Val88Ile) n.327G>A | |
17 | g.42903962G>C | CA399653239 | G6PC1 | c.262G>C (p.Val88Leu) n.327G>C | |
17 | g.42903962G>T | CA399653241 | G6PC1 | c.262G>T (p.Val88Phe) n.327G>T | |
17 | g.42903963T>A | CA399653244 | G6PC1 | c.263T>A (p.Val88Asp) n.328T>A | |
17 | g.42903963T>C | CA399653246 | G6PC1 | c.263T>C (p.Val88Ala) n.328T>C | |
17 | g.42903963T>G | CA399653248 | G6PC1 | c.263T>G (p.Val88Gly) n.328T>G | |
17 | g.42903966del | CA500102319 | G6PC1 | c.266del (p.Leu89TrpfsTer13) n.331del | gnomAD v4 |
17 | g.42903964T>A | CA500102327 | G6PC1 | c.264T>A (p.Val88=) n.329T>A | |
17 | g.42903964T>C | CA500102323 | G6PC1 | c.264T>C (p.Val88=) n.329T>C | |
17 | g.42903964T>G | CA500102325 | G6PC1 | c.264T>G (p.Val88=) n.329T>G | |
17 | g.42903965T>A | CA399653252 | G6PC1 | c.265T>A (p.Leu89Met) n.330T>A | |
17 | g.42903965T>C | CA500102333 | G6PC1 | c.265T>C (p.Leu89=) n.330T>C | |
17 | g.42903965T>G | CA399653250 | G6PC1 | c.265T>G (p.Leu89Val) n.330T>G | |
17 | g.42903966T>A | CA399653255 | G6PC1 | c.266T>A (p.Leu89Ter) n.331T>A | |
17 | g.42903966T>C | CA399653257 | G6PC1 | c.266T>C (p.Leu89Ser) n.331T>C | |
17 | g.42903966T>G | CA399653259 | G6PC1 | c.266T>G (p.Leu89Trp) n.331T>G | |
17 | g.42903967G>A | CA500102346 | G6PC1 | c.267G>A (p.Leu89=) n.332G>A | |
17 | g.42903967G>C | CA399653261 | G6PC1 | c.267G>C (p.Leu89Phe) n.332G>C | |
17 | g.42903967G>T | CA399653264 | G6PC1 | c.267G>T (p.Leu89Phe) n.332G>T | |
17 | g.42903967_42903968delinsC | CA2580093773 | G6PC1 | c.267_268delinsC (p.Leu89PhefsTer13) n.332_333delinsC | ClinVar |
17 | g.42903968G>A | CA399653266 | G6PC1 | c.268G>A (p.Asp90Asn) n.333G>A | gnomAD v4 |
17 | g.42903968G>C | CA399653269 | G6PC1 | c.268G>C (p.Asp90His) n.333G>C | |
17 | g.42903968G>T | CA399653271 | G6PC1 | c.268G>T (p.Asp90Tyr) n.333G>T | |
17 | g.42903969A= | CA2260694242 | G6PC1 | c.269A= (p.Asp90=) n.334A= | |
17 | g.42903969A>C | CA399653275 | G6PC1 | c.269A>C (p.Asp90Ala) n.334A>C | |
17 | g.42903969A>G | CA8587530 | G6PC1 | c.269A>G (p.Asp90Gly) n.334A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42903969A>T | CA399653278 | G6PC1 | c.269A>T (p.Asp90Val) n.334A>T | |
17 | g.42903970T>A | CA399653281 | G6PC1 | c.270T>A (p.Asp90Glu) n.335T>A | |
17 | g.42903970T>C | CA500102374 | G6PC1 | c.270T>C (p.Asp90=) n.335T>C | |
17 | g.42903970T>G | CA399653282 | G6PC1 | c.270T>G (p.Asp90Glu) n.335T>G | |
17 | g.42903971A>C | CA399653288 | G6PC1 | c.271A>C (p.Thr91Pro) n.336A>C | |
17 | g.42903971A>G | CA399653296 | G6PC1 | c.271A>G (p.Thr91Ala) n.336A>G | gnomAD v4 |
17 | g.42903971A>T | CA399653285 | G6PC1 | c.271A>T (p.Thr91Ser) n.336A>T | |
17 | g.42903972C>A | CA399653300 | G6PC1 | c.272C>A (p.Thr91Asn) n.337C>A | |
17 | g.42903972C>G | CA399653298 | G6PC1 | c.272C>G (p.Thr91Ser) n.337C>G | |
17 | g.42903972C>T | CA399653302 | G6PC1 | c.272C>T (p.Thr91Ile) n.337C>T | COSMIC |
17 | g.42903973T>A | CA500102393 | G6PC1 | c.273T>A (p.Thr91=) n.338T>A | |
17 | g.42903973T>C | CA500102395 | G6PC1 | c.273T>C (p.Thr91=) n.338T>C | dbSNP gnomAD v4 |
17 | g.42903973T>G | CA500102398 | G6PC1 | c.273T>G (p.Thr91=) n.338T>G | ClinVar dbSNP |
17 | g.42903974G>A | CA399653303 | G6PC1 | c.274G>A (p.Asp92Asn) n.339G>A | gnomAD v4 |
17 | g.42903974G>C | CA399653306 | G6PC1 | c.274G>C (p.Asp92His) n.339G>C | |
17 | g.42903974G>T | CA399653304 | G6PC1 | c.274G>T (p.Asp92Tyr) n.339G>T | |
17 | g.42903975A>C | CA399653309 | G6PC1 | c.275A>C (p.Asp92Ala) n.340A>C | |
17 | g.42903975A>G | CA399653310 | G6PC1 | c.275A>G (p.Asp92Gly) n.340A>G | |
17 | g.42903975A>T | CA399653312 | G6PC1 | c.275A>T (p.Asp92Val) n.340A>T | |
17 | g.42903976C>A | CA399653313 | G6PC1 | c.276C>A (p.Asp92Glu) n.341C>A | |
17 | g.42903976C>G | CA399653315 | G6PC1 | c.276C>G (p.Asp92Glu) n.341C>G | |
17 | g.42903976C>T | CA500102411 | G6PC1 | c.276C>T (p.Asp92=) n.341C>T | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42903977T>A | CA399653316 | G6PC1 | c.277T>A (p.Tyr93Asn) n.342T>A | |
17 | g.42903977T>C | CA399653317 | G6PC1 | c.277T>C (p.Tyr93His) n.342T>C | |
17 | g.42903977T>G | CA399653318 | G6PC1 | c.277T>G (p.Tyr93Asp) n.342T>G | |
17 | g.42903978del | CA2580093774 | G6PC1 | c.278del (p.Tyr93SerfsTer9) n.343del | ClinVar |
17 | g.42903978A>C | CA399653321 | G6PC1 | c.278A>C (p.Tyr93Ser) n.343A>C | |
17 | g.42903978A>G | CA399653322 | G6PC1 | c.278A>G (p.Tyr93Cys) n.343A>G | |
17 | g.42903978A>T | CA399653324 | G6PC1 | c.278A>T (p.Tyr93Phe) n.343A>T | |
17 | g.42903979C>A | CA399653327 | G6PC1 | c.279C>A (p.Tyr93Ter) n.344C>A | ClinVar |
17 | g.42903979C>G | CA399653328 | G6PC1 | c.279C>G (p.Tyr93Ter) n.344C>G | |
17 | g.42903979C>T | CA500102423 | G6PC1 | c.279C>T (p.Tyr93=) n.344C>T | gnomAD v4 COSMIC |
17 | g.42903980T>A | CA399653330 | G6PC1 | c.280T>A (p.Tyr94Asn) n.345T>A | |
17 | g.42903980T>C | CA399653335 | G6PC1 | c.280T>C (p.Tyr94His) n.345T>C | gnomAD v4 |
17 | g.42903980T>G | CA399653334 | G6PC1 | c.280T>G (p.Tyr94Asp) n.345T>G | |
17 | g.42903981A>C | CA399653337 | G6PC1 | c.281A>C (p.Tyr94Ser) n.346A>C | |
17 | g.42903981A>G | CA399653338 | G6PC1 | c.281A>G (p.Tyr94Cys) n.346A>G | |
17 | g.42903981A>T | CA399653339 | G6PC1 | c.281A>T (p.Tyr94Phe) n.346A>T | |
17 | g.42903982C>A | CA399653340 | G6PC1 | c.282C>A (p.Tyr94Ter) n.347C>A | |
17 | g.42903982C>G | CA399653341 | G6PC1 | c.282C>G (p.Tyr94Ter) n.347C>G | |
17 | g.42903982C>T | CA500102439 | G6PC1 | c.282C>T (p.Tyr94=) n.347C>T | |
17 | g.42903983A>C | CA399653342 | G6PC1 | c.283A>C (p.Ser95Arg) n.348A>C | |
17 | g.42903983A>G | CA399653343 | G6PC1 | c.283A>G (p.Ser95Gly) n.348A>G | gnomAD v4 |
17 | g.42903983A>T | CA399653344 | G6PC1 | c.283A>T (p.Ser95Cys) n.348A>T | |
17 | g.42903984G>A | CA399653345 | G6PC1 | c.284G>A (p.Ser95Asn) n.349G>A | |
17 | g.42903984G>C | CA399653346 | G6PC1 | c.284G>C (p.Ser95Thr) n.349G>C | |
17 | g.42903984G>T | CA399653347 | G6PC1 | c.284G>T (p.Ser95Ile) n.349G>T | |
17 | g.42903985C>A | CA399653348 | G6PC1 | c.285C>A (p.Ser95Arg) n.350C>A | |
17 | g.42903985C= | CA2260694243 | G6PC1 | c.285C= (p.Ser95=) n.350C= | |
17 | g.42903985C>G | CA399653349 | G6PC1 | c.285C>G (p.Ser95Arg) n.350C>G | dbSNP gnomAD v4 |
17 | g.42903985C>T | CA500102453 | G6PC1 | c.285C>T (p.Ser95=) n.350C>T | ClinVar dbSNP |
17 | g.42903986A= | CA2260694244 | G6PC1 | c.286A= (p.Asn96=) n.351A= | |
17 | g.42903986A>C | CA399653350 | G6PC1 | c.286A>C (p.Asn96His) n.351A>C | |
17 | g.42903986A>G | CA399653351 | G6PC1 | c.286A>G (p.Asn96Asp) n.351A>G | dbSNP |
17 | g.42903986A>T | CA399653352 | G6PC1 | c.286A>T (p.Asn96Tyr) n.351A>T | |
17 | g.42903987A= | CA2260694245 | G6PC1 | c.287A= (p.Asn96=) n.352A= | |
17 | g.42903987A>C | CA399653353 | G6PC1 | c.287A>C (p.Asn96Thr) n.352A>C | |
17 | g.42903987A>G | CA399653354 | G6PC1 | c.287A>G (p.Asn96Ser) n.352A>G | dbSNP |
17 | g.42903987A>T | CA399653355 | G6PC1 | c.287A>T (p.Asn96Ile) n.352A>T | dbSNP gnomAD v4 |
17 | g.42903988C>A | CA399653357 | G6PC1 | c.288C>A (p.Asn96Lys) n.353C>A | |
17 | g.42903988C>G | CA399653356 | G6PC1 | c.288C>G (p.Asn96Lys) n.353C>G | |
17 | g.42903988C>T | CA500102469 | G6PC1 | c.288C>T (p.Asn96=) n.353C>T | |
17 | g.42903989A>C | CA399653358 | G6PC1 | c.289A>C (p.Thr97Pro) n.354A>C | |
17 | g.42903989A>G | CA399653359 | G6PC1 | c.289A>G (p.Thr97Ala) n.354A>G | |
17 | g.42903989A>T | CA399653360 | G6PC1 | c.289A>T (p.Thr97Ser) n.354A>T | |
17 | g.42903990C>A | CA399653361 | G6PC1 | c.290C>A (p.Thr97Asn) n.355C>A | |
17 | g.42903990C>G | CA399653362 | G6PC1 | c.290C>G (p.Thr97Ser) n.355C>G | |
17 | g.42903990C>T | CA399653363 | G6PC1 | c.290C>T (p.Thr97Ile) n.355C>T | dbSNP gnomAD v4 |
17 | g.42903991T>A | CA500102486 | G6PC1 | c.291T>A (p.Thr97=) n.356T>A | |
17 | g.42903991T>C | CA500102488 | G6PC1 | c.291T>C (p.Thr97=) n.356T>C | |
17 | g.42903991T>G | CA500102490 | G6PC1 | c.291T>G (p.Thr97=) n.356T>G | |
17 | g.42903992T>A | CA399653364 | G6PC1 | c.292T>A (p.Ser98Thr) n.357T>A | |
17 | g.42903992T>C | CA399653366 | G6PC1 | c.292T>C (p.Ser98Pro) n.357T>C | |
17 | g.42903992T>G | CA399653365 | G6PC1 | c.292T>G (p.Ser98Ala) n.357T>G | |
17 | g.42903993C>A | CA399653367 | G6PC1 | c.293C>A (p.Ser98Tyr) n.358C>A | |
17 | g.42903993C= | CA2260694246 | G6PC1 | c.293C= (p.Ser98=) n.358C= | |
17 | g.42903993C>G | CA399653368 | G6PC1 | c.293C>G (p.Ser98Cys) n.358C>G | |
17 | g.42903993C>T | CA399653369 | G6PC1 | c.293C>T (p.Ser98Phe) n.358C>T | dbSNP |
17 | g.42903994del | CA2576280991 | G6PC1 | c.294del (p.Val99CysfsTer3) n.359del | gnomAD v4 |
17 | g.42903994C>A | CA500102507 | G6PC1 | c.294C>A (p.Ser98=) n.359C>A | |
17 | g.42903994C= | CA2260694247 | G6PC1 | c.294C= (p.Ser98=) n.359C= | |
17 | g.42903994C>G | CA500102512 | G6PC1 | c.294C>G (p.Ser98=) n.359C>G | |
17 | g.42903994C>T | CA8587531 | G6PC1 | c.294C>T (p.Ser98=) n.359C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.42903995G>A | CA8587532 | G6PC1 | c.295G>A (p.Val99Met) n.360G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42903995G>C | CA399653370 | G6PC1 | c.295G>C (p.Val99Leu) n.360G>C | |
17 | g.42903995G= | CA2260694248 | G6PC1 | c.295G= (p.Val99=) n.360G= | |
17 | g.42903995G>T | CA399653371 | G6PC1 | c.295G>T (p.Val99Leu) n.360G>T | |
17 | g.42903996T>A | CA399653372 | G6PC1 | c.296T>A (p.Val99Glu) n.361T>A | |
17 | g.42903996T>C | CA399653373 | G6PC1 | c.296T>C (p.Val99Ala) n.361T>C | dbSNP |
17 | g.42903996T>G | CA399653374 | G6PC1 | c.296T>G (p.Val99Gly) n.361T>G | |
17 | g.42903997G>A | CA500102526 | G6PC1 | c.297G>A (p.Val99=) n.362G>A | ClinVar gnomAD v4 |
17 | g.42903997G>C | CA500102528 | G6PC1 | c.297G>C (p.Val99=) n.362G>C | |
17 | g.42903997G>T | CA500102527 | G6PC1 | c.297G>T (p.Val99=) n.362G>T | ClinVar |
17 | g.42903998C>A | CA399653377 | G6PC1 | c.298C>A (p.Pro100Thr) n.363C>A | |
17 | g.42903998C= | CA2260694249 | G6PC1 | c.298C= (p.Pro100=) n.363C= | |
17 | g.42903998C>G | CA399653376 | G6PC1 | c.298C>G (p.Pro100Ala) n.363C>G | |
17 | g.42903998C>T | CA399653375 | G6PC1 | c.298C>T (p.Pro100Ser) n.363C>T | dbSNP gnomAD v4 |
17 | g.42903999C>A | CA399653378 | G6PC1 | c.299C>A (p.Pro100His) n.364C>A | |
17 | g.42903999C>G | CA399653380 | G6PC1 | c.299C>G (p.Pro100Arg) n.364C>G | |
17 | g.42903999C>T | CA399653379 | G6PC1 | c.299C>T (p.Pro100Leu) n.364C>T | |
17 | g.42904000C>A | CA500102546 | G6PC1 | c.300C>A (p.Pro100=) n.365C>A | |
17 | g.42904000C>G | CA500102547 | G6PC1 | c.300C>G (p.Pro100=) n.365C>G | |
17 | g.42904000C>T | CA500102550 | G6PC1 | c.300C>T (p.Pro100=) n.365C>T | |
17 | g.42904001C>A | CA399653381 | G6PC1 | c.301C>A (p.Leu101Met) n.366C>A | |
17 | g.42904001C>G | CA399653382 | G6PC1 | c.301C>G (p.Leu101Val) n.366C>G | |
17 | g.42904001C>T | CA500102559 | G6PC1 | c.301C>T (p.Leu101=) n.366C>T | |
17 | g.42904002del | CA2573154231 | G6PC1 | c.302del (p.Leu101ArgfsTer2) n.367del | ClinVar dbSNP |
17 | g.42904002T>A | CA399653383 | G6PC1 | c.302T>A (p.Leu101Gln) n.367T>A | |
17 | g.42904002T>C | CA399653384 | G6PC1 | c.302T>C (p.Leu101Pro) n.367T>C | |
17 | g.42904002T>G | CA399653385 | G6PC1 | c.302T>G (p.Leu101Arg) n.367T>G | |
17 | g.42904003G>A | CA500102575 | G6PC1 | c.303G>A (p.Leu101=) n.368G>A | gnomAD v4 |
17 | g.42904003G>C | CA500102577 | G6PC1 | c.303G>C (p.Leu101=) n.368G>C | |
17 | g.42904003G= | CA2260694250 | G6PC1 | c.303G= (p.Leu101=) n.368G= | |
17 | g.42904003G>T | CA500102578 | G6PC1 | c.303G>T (p.Leu101=) n.368G>T | dbSNP |
17 | g.42904004A= | CA2260694251 | G6PC1 | c.304A= (p.Ile102=) n.369A= | |
17 | g.42904004A>C | CA399653386 | G6PC1 | c.304A>C (p.Ile102Leu) n.369A>C | |
17 | g.42904004A>G | CA8587534 | G6PC1 | c.304A>G (p.Ile102Val) n.369A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42904004A>T | CA8587533 | G6PC1 | c.304A>T (p.Ile102Leu) n.369A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42904005T>A | CA399653387 | G6PC1 | c.305T>A (p.Ile102Lys) n.370T>A | ClinVar |
17 | g.42904005T>C | CA399653388 | G6PC1 | c.305T>C (p.Ile102Thr) n.370T>C | gnomAD v4 |
17 | g.42904005T>G | CA399653389 | G6PC1 | c.305T>G (p.Ile102Arg) n.370T>G | |
17 | g.42904006A>C | CA500102590 | G6PC1 | c.306A>C (p.Ile102=) n.371A>C | |
17 | g.42904006A>G | CA399653390 | G6PC1 | c.306A>G (p.Ile102Met) n.371A>G | |
17 | g.42904006A>T | CA500102595 | G6PC1 | c.306A>T (p.Ile102=) n.371A>T | |
17 | g.42904007A>C | CA399653393 | G6PC1 | c.307A>C (p.Lys103Gln) n.372A>C | |
17 | g.42904007A>G | CA399653391 | G6PC1 | c.307A>G (p.Lys103Glu) n.372A>G | |
17 | g.42904007A>T | CA399653392 | G6PC1 | c.307A>T (p.Lys103Ter) n.372A>T | |
17 | g.42904008A>C | CA399653394 | G6PC1 | c.308A>C (p.Lys103Thr) n.373A>C | |
17 | g.42904008A>G | CA399653395 | G6PC1 | c.308A>G (p.Lys103Arg) n.373A>G | |
17 | g.42904008A>T | CA399653396 | G6PC1 | c.308A>T (p.Lys103Met) n.373A>T | |
17 | g.42904009G>A | CA500102609 | G6PC1 | c.309G>A (p.Lys103=) n.374G>A | |
17 | g.42904009G>C | CA399653397 | G6PC1 | c.309G>C (p.Lys103Asn) n.374G>C | |
17 | g.42904009G>T | CA399653398 | G6PC1 | c.309G>T (p.Lys103Asn) n.374G>T | |
17 | g.42904010C>A | CA399653399 | G6PC1 | c.310C>A (p.Gln104Lys) n.375C>A | |
17 | g.42904010C= | CA2260694252 | G6PC1 | c.310C= (p.Gln104=) n.375C= | |
17 | g.42904010C>G | CA399653400 | G6PC1 | c.310C>G (p.Gln104Glu) n.375C>G | |
17 | g.42904010C>T | CA399653401 | G6PC1 | c.310C>T (p.Gln104Ter) n.375C>T | ClinVar dbSNP |
17 | g.42904011A= | CA2260694253 | G6PC1 | c.311A= (p.Gln104=) n.376A= | |
17 | g.42904011A>C | CA399653402 | G6PC1 | c.311A>C (p.Gln104Pro) n.376A>C | |
17 | g.42904011A>G | CA399653403 | G6PC1 | c.311A>G (p.Gln104Arg) n.376A>G | |
17 | g.42904011A>T | CA8587535 | G6PC1 | c.311A>T (p.Gln104Leu) n.376A>T | dbSNP ExAC gnomAD v2 |
17 | g.42904012G>A | CA500102626 | G6PC1 | c.312G>A (p.Gln104=) n.377G>A | dbSNP |
17 | g.42904012G>C | CA399653405 | G6PC1 | c.312G>C (p.Gln104His) n.377G>C | dbSNP |
17 | g.42904012G= | CA2260694254 | G6PC1 | c.312G= (p.Gln104=) n.377G= | |
17 | g.42904012G>T | CA399653404 | G6PC1 | c.312G>T (p.Gln104His) n.377G>T | |
17 | g.42904013T>A | CA399653406 | G6PC1 | c.313T>A (p.Phe105Ile) n.378T>A | |
17 | g.42904013T>C | CA399653408 | G6PC1 | c.313T>C (p.Phe105Leu) n.378T>C | |
17 | g.42904013T>G | CA399653407 | G6PC1 | c.313T>G (p.Phe105Val) n.378T>G | |
17 | g.42904014T>A | CA399653410 | G6PC1 | c.314T>A (p.Phe105Tyr) n.379T>A | |
17 | g.42904014T>C | CA399653412 | G6PC1 | c.314T>C (p.Phe105Ser) n.379T>C | |
17 | g.42904014T>G | CA399653413 | G6PC1 | c.314T>G (p.Phe105Cys) n.379T>G | |
17 | g.42904015C>A | CA399653415 | G6PC1 | c.315C>A (p.Phe105Leu) n.380C>A | |
17 | g.42904015C>G | CA399653416 | G6PC1 | c.315C>G (p.Phe105Leu) n.380C>G | gnomAD v4 |
17 | g.42904015C>T | CA500102641 | G6PC1 | c.315C>T (p.Phe105=) n.380C>T | ClinVar dbSNP |
17 | g.42904016C>A | CA399653419 | G6PC1 | c.316C>A (p.Pro106Thr) n.381C>A | |
17 | g.42904016C>G | CA399653420 | G6PC1 | c.316C>G (p.Pro106Ala) n.381C>G | |
17 | g.42904016C>T | CA399653421 | G6PC1 | c.316C>T (p.Pro106Ser) n.381C>T | |
17 | g.42904017C>A | CA399653422 | G6PC1 | c.317C>A (p.Pro106His) n.382C>A | |
17 | g.42904017C>G | CA399653424 | G6PC1 | c.317C>G (p.Pro106Arg) n.382C>G | |
17 | g.42904017C>T | CA399653426 | G6PC1 | c.317C>T (p.Pro106Leu) n.382C>T | |
17 | g.42904018T>A | CA500102654 | G6PC1 | c.318T>A (p.Pro106=) n.383T>A | |
17 | g.42904018T>C | CA500102656 | G6PC1 | c.318T>C (p.Pro106=) n.383T>C | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42904018T>G | CA500102659 | G6PC1 | c.318T>G (p.Pro106=) n.383T>G | |
17 | g.42904018T= | CA2260694255 | G6PC1 | c.318T= (p.Pro106=) n.383T= | |
17 | g.42904019G>A | CA399653431 | G6PC1 | c.319G>A (p.Val107Ile) n.384G>A | |
17 | g.42904019G>C | CA399653429 | G6PC1 | c.319G>C (p.Val107Leu) n.384G>C | gnomAD v4 |
17 | g.42904019G>T | CA399653427 | G6PC1 | c.319G>T (p.Val107Leu) n.384G>T | |
17 | g.42904020T>A | CA8587536 | G6PC1 | c.320T>A (p.Val107Glu) n.385T>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42904020T>C | CA399653433 | G6PC1 | c.320T>C (p.Val107Ala) n.385T>C | |
17 | g.42904020T>G | CA399653434 | G6PC1 | c.320T>G (p.Val107Gly) n.385T>G | |
17 | g.42904020T= | CA2260694256 | G6PC1 | c.320T= (p.Val107=) n.385T= | |
17 | g.42904021A>C | CA500102672 | G6PC1 | c.321A>C (p.Val107=) n.386A>C | |
17 | g.42904021A>G | CA500102673 | G6PC1 | c.321A>G (p.Val107=) n.386A>G | |
17 | g.42904021A>T | CA500102676 | G6PC1 | c.321A>T (p.Val107=) n.386A>T | |
17 | g.42904022A>C | CA399653436 | G6PC1 | c.322A>C (p.Thr108Pro) n.387A>C | |
17 | g.42904022A>G | CA399653437 | G6PC1 | c.322A>G (p.Thr108Ala) n.387A>G | |
17 | g.42904022A>T | CA399653438 | G6PC1 | c.322A>T (p.Thr108Ser) n.387A>T | |
17 | g.42904023C>A | CA399653440 | G6PC1 | c.323C>A (p.Thr108Asn) n.388C>A | |
17 | g.42904023C= | CA2260694257 | G6PC1 | c.323C= (p.Thr108=) n.388C= | |
17 | g.42904023C>G | CA399653441 | G6PC1 | c.323C>G (p.Thr108Ser) n.388C>G | |
17 | g.42904023C>T | CA399653442 | G6PC1 | c.323C>T (p.Thr108Ile) n.388C>T | ClinVar dbSNP gnomAD v4 |
17 | g.42904024del | CA2499224335 | G6PC1 | c.324del (p.Cys109ValfsTer21) n.389del c.324del (p.Cys109ValfsTer?) | ClinVar dbSNP |
17 | g.42904024C>A | CA500102707 | G6PC1 | c.324C>A (p.Thr108=) n.389C>A | |
17 | g.42904024C= | CA2260694258 | G6PC1 | c.324C= (p.Thr108=) n.389C= | |
17 | g.42904024C>G | CA500102703 | G6PC1 | c.324C>G (p.Thr108=) n.389C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42904024C>T | CA500102705 | G6PC1 | c.324C>T (p.Thr108=) n.389C>T | |
17 | g.42904025T>A | CA399653444 | G6PC1 | c.325T>A (p.Cys109Ser) n.390T>A | |
17 | g.42904025T>C | CA399653446 | G6PC1 | c.325T>C (p.Cys109Arg) n.390T>C | ClinVar |
17 | g.42904025T>G | CA399653447 | G6PC1 | c.325T>G (p.Cys109Gly) n.390T>G | |
17 | g.42904026G>A | CA10649309 | G6PC1 | c.326G>A (p.Cys109Tyr) n.391G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42904026G>C | CA399653450 | G6PC1 | c.326G>C (p.Cys109Ser) n.391G>C | |
17 | g.42904026G= | CA2260694259 | G6PC1 | c.326G= (p.Cys109=) n.391G= | |
17 | g.42904026G>T | CA399653448 | G6PC1 | c.326G>T (p.Cys109Phe) n.391G>T | |
17 | g.42904027T>A | CA399653453 | G6PC1 | c.327T>A (p.Cys109Ter) n.392T>A | |
17 | g.42904027T>C | CA500102719 | G6PC1 | c.327T>C (p.Cys109=) n.392T>C | |
17 | g.42904027T>G | CA399653454 | G6PC1 | c.327T>G (p.Cys109Trp) n.392T>G | |
17 | g.42904028G>A | CA256186 | G6PC1 | c.328G>A (p.Glu110Lys) n.393G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42904028G>C | CA399653458 | G6PC1 | c.328G>C (p.Glu110Gln) n.393G>C | |
17 | g.42904028G= | CA2260694260 | G6PC1 | c.328G= (p.Glu110=) n.393G= | |
17 | g.42904028G>T | CA399653456 | G6PC1 | c.328G>T (p.Glu110Ter) n.393G>T | |
17 | g.42904029A>C | CA399653459 | G6PC1 | c.329A>C (p.Glu110Ala) n.394A>C | |
17 | g.42904029A>G | CA399653461 | G6PC1 | c.329A>G (p.Glu110Gly) n.394A>G | |
17 | g.42904029A>T | CA399653462 | G6PC1 | c.329A>T (p.Glu110Val) n.394A>T | |
17 | g.42904030G>A | CA500102733 | G6PC1 | c.330G>A (p.Glu110=) n.395G>A | |
17 | g.42904030G>C | CA399653464 | G6PC1 | c.330G>C (p.Glu110Asp) n.395G>C | |
17 | g.42904030G>T | CA399653465 | G6PC1 | c.330G>T (p.Glu110Asp) n.395G>T | |
17 | g.42904031A= | CA2260694261 | G6PC1 | c.331A= (p.Thr111=) n.396A= | |
17 | g.42904031A>C | CA399653467 | G6PC1 | c.331A>C (p.Thr111Pro) n.396A>C | |
17 | g.42904031A>G | CA399653468 | G6PC1 | c.331A>G (p.Thr111Ala) n.396A>G | |
17 | g.42904031A>T | CA8587537 | G6PC1 | c.331A>T (p.Thr111Ser) n.396A>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
17 | g.42904032C>A | CA399653470 | G6PC1 | c.332C>A (p.Thr111Asn) n.397C>A | |
17 | g.42904032C= | CA2260694262 | G6PC1 | c.332C= (p.Thr111=) n.397C= | |
17 | g.42904032C>G | CA399653472 | G6PC1 | c.332C>G (p.Thr111Ser) n.397C>G | |
17 | g.42904032C>T | CA399653473 | G6PC1 | c.332C>T (p.Thr111Ile) n.397C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42904033T>A | CA500102750 | G6PC1 | c.333T>A (p.Thr111=) n.398T>A | |
17 | g.42904033T>C | CA500102754 | G6PC1 | c.333T>C (p.Thr111=) n.398T>C | gnomAD v4 |
17 | g.42904033T>G | CA500102752 | G6PC1 | c.333T>G (p.Thr111=) n.398T>G | |
17 | g.42904034G>A | CA399653477 | G6PC1 | c.334G>A (p.Gly112Arg) n.399G>A | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42904034G>C | CA399653476 | G6PC1 | c.334G>C (p.Gly112Arg) n.399G>C | |
17 | g.42904034G= | CA2260694263 | G6PC1 | c.334G= (p.Gly112=) n.399G= | |
17 | g.42904034G>T | CA399653475 | G6PC1 | c.334G>T (p.Gly112Ter) n.399G>T | |
17 | g.42904035G>A | CA399653480 | G6PC1 | c.335G>A (p.Gly112Glu) n.400G>A | |
17 | g.42904035G>C | CA399653481 | G6PC1 | c.335G>C (p.Gly112Ala) n.400G>C | gnomAD v4 |
17 | g.42904035G>T | CA399653483 | G6PC1 | c.335G>T (p.Gly112Val) n.400G>T | |
17 | g.42904036A>C | CA500102771 | G6PC1 | c.336A>C (p.Gly112=) n.401A>C | |
17 | g.42904036A>G | CA500102766 | G6PC1 | c.336A>G (p.Gly112=) n.401A>G | |
17 | g.42904036A>T | CA500102767 | G6PC1 | c.336A>T (p.Gly112=) n.401A>T | |
17 | g.42904037C>A | CA399653485 | G6PC1 | c.337C>A (p.Pro113Thr) n.402C>A | gnomAD v4 |
17 | g.42904037C>G | CA399653487 | G6PC1 | c.337C>G (p.Pro113Ala) n.402C>G | |
17 | g.42904037C>T | CA399653488 | G6PC1 | c.337C>T (p.Pro113Ser) n.402C>T | |
17 | g.42904038C>A | CA399653490 | G6PC1 | c.338C>A (p.Pro113Gln) n.403C>A | gnomAD v4 |
17 | g.42904038C>G | CA399653492 | G6PC1 | c.338C>G (p.Pro113Arg) n.403C>G | |
17 | g.42904038C>T | CA399653493 | G6PC1 | c.338C>T (p.Pro113Leu) n.403C>T | ClinVar |
17 | g.42904039A>C | CA500102786 | G6PC1 | c.339A>C (p.Pro113=) n.404A>C | dbSNP |
17 | g.42904039A>G | CA500102789 | G6PC1 | c.339A>G (p.Pro113=) n.404A>G | |
17 | g.42904039A>T | CA500102791 | G6PC1 | c.339A>T (p.Pro113=) n.404A>T | |
17 | g.42904040G>A | CA399653495 | G6PC1 | c.340G>A (p.Gly114Arg) n.405G>A | |
17 | g.42904040G>C | CA399653496 | G6PC1 | c.340G>C (p.Gly114Arg) n.405G>C | |
17 | g.42904040G>T | CA399653498 | G6PC1 | c.340G>T (p.Gly114Trp) n.405G>T | |
17 | g.42904041G>A | CA399653503 | G6PC1 | c.340+1G>A (n.340+1G>A) n.406G>A | |
17 | g.42904041G>C | CA399653501 | G6PC1 | c.340+1G>C (n.340+1G>C) n.406G>C | |
17 | g.42904041G= | CA2260694264 | G6PC1 | c.340+1G= (n.340+1G=) n.406G= | |
17 | g.42904041G>T | CA399653500 | G6PC1 | c.340+1G>T (n.340+1G>T) n.406G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42904042T>A | CA8587538 | G6PC1 | c.340+2T>A (n.340+2T>A) n.407T>A | dbSNP ExAC gnomAD v2 |
17 | g.42904042T>C | CA399653505 | G6PC1 | c.340+2T>C (n.340+2T>C) n.407T>C | gnomAD v4 |
17 | g.42904042T>G | CA399653507 | G6PC1 | c.340+2T>G (n.340+2T>G) n.407T>G | |
17 | g.42904042T= | CA2260694265 | G6PC1 | c.340+2T= (n.340+2T=) n.407T= | |
17 | g.42904043A>G | CA2638040020 | G6PC1 | c.340+3A>G (n.340+3A>G) n.408A>G | gnomAD v4 |
17 | g.42904043A>T | CA2638040021 | G6PC1 | c.340+3A>T (n.340+3A>T) n.408A>T | gnomAD v4 |
17 | g.42904046C>A | CA2260694267 | G6PC1 | c.340+6C>A (n.340+6C>A) n.411C>A | dbSNP gnomAD v4 |
17 | g.42904046C= | CA2260694266 | G6PC1 | c.340+6C= (n.340+6C=) n.411C= | |
17 | g.42904046C>T | CA8587539 | G6PC1 | c.340+6C>T (n.340+6C>T) n.411C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42904047G>A | CA8587540 | G6PC1 | c.340+7G>A (n.340+7G>A) n.412G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42904047G>C | CA2739267552 | G6PC1 | c.340+7G>C (n.340+7G>C) n.412G>C | ClinVar |
17 | g.42904047G= | CA2260694268 | G6PC1 | c.340+7G= (n.340+7G=) n.412G= | |
17 | g.42904047G>T | CA2499224336 | G6PC1 | c.340+7G>T (n.340+7G>T) n.412G>T | ClinVar dbSNP |
17 | g.42904048T>A | CA2580093775 | G6PC1 | c.340+8T>A (n.340+8T>A) n.413T>A | ClinVar |
17 | g.42904048T>C | CA2260694270 | G6PC1 | c.340+8T>C (n.340+8T>C) n.413T>C | dbSNP |
17 | g.42904048T= | CA2260694269 | G6PC1 | c.340+8T= (n.340+8T=) n.413T= | |
17 | g.42904049C>A | CA2638040039 | G6PC1 | c.340+9C>A (n.340+9C>A) n.414C>A | gnomAD v4 |
17 | g.42904049C>T | CA2697559960 | G6PC1 | c.340+9C>T (n.340+9C>T) n.414C>T | ClinVar |
17 | g.42904051del | CA2638040037 | G6PC1 | c.340+11del (n.340+11del) n.416del | gnomAD v4 |
17 | g.42904050C>A | CA8587541 | G6PC1 | c.340+10C>A (n.340+10C>A) n.415C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42904050C= | CA2260694271 | G6PC1 | c.340+10C= (n.340+10C=) n.415C= | |
17 | g.42904050C>T | CA2580093776 | G6PC1 | c.340+10C>T (n.340+10C>T) n.415C>T | ClinVar |