UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.57198811T>A | CA353401088 | HESX1 | c.299A>T (p.Lys100Ile) n.851-319A>T | |
| 3 | g.57198811T>C | CA353401091 | HESX1 | c.299A>G (p.Lys100Arg) n.851-319A>G | |
| 3 | g.57198811T>G | CA353401089 | HESX1 | c.299A>C (p.Lys100Thr) n.851-319A>C | |
| 3 | g.57198812T>A | CA353401094 | HESX1 | c.298A>T (p.Lys100Ter) n.851-320A>T | |
| 3 | g.57198812T>C | CA353401096 | HESX1 | c.298A>G (p.Lys100Glu) n.851-320A>G | |
| 3 | g.57198812T>G | CA353401097 | HESX1 | c.298A>C (p.Lys100Gln) n.851-320A>C | |
| 3 | g.57198813C>A | CA353401100 | HESX1 | c.297G>T (p.Leu99Phe) n.851-321G>T | |
| 3 | g.57198813C= | CA1367077581 | HESX1 | c.297G= (p.Leu99=) n.851-321G= | |
| 3 | g.57198813C>G | CA353401101 | HESX1 | c.297G>C (p.Leu99Phe) n.851-321G>C | |
| 3 | g.57198813C>T | CA434087498 | HESX1 | c.297G>A (p.Leu99=) n.851-321G>A | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.57198814A= | CA1367077586 | HESX1 | c.296T= (p.Leu99=) n.851-322T= | |
| 3 | g.57198814A>C | CA353401104 | HESX1 | c.296T>G (p.Leu99Trp) n.851-322T>G | |
| 3 | g.57198814A>G | CA353401105 | HESX1 | c.296T>C (p.Leu99Ser) n.851-322T>C | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.57198814A>T | CA353401106 | HESX1 | c.296T>A (p.Leu99Ter) n.851-322T>A | |
| 3 | g.57198814_57198817delinsAAAG | CA1367077584 | HESX1 | c.293_296delinsCTTT (p.Ser98=) n.851-325_851-322delinsCTTT | |
| 3 | g.57198815A>C | CA353401109 | HESX1 | c.295T>G (p.Leu99Val) n.851-323T>G | |
| 3 | g.57198815A>G | CA434087508 | HESX1 | c.295T>C (p.Leu99=) n.851-323T>C | |
| 3 | g.57198815A>T | CA353401111 | HESX1 | c.295T>A (p.Leu99Met) n.851-323T>A | |
| 3 | g.57198816_57198818del | CA543533222 | HESX1 | c.293_295del (p.Ser98del) n.851-325_851-323del | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.57198816A= | CA1367077591 | HESX1 | c.294T= (p.Ser98=) n.851-324T= | |
| 3 | g.57198816A>C | CA434087513 | HESX1 | c.294T>G (p.Ser98=) n.851-324T>G | |
| 3 | g.57198816A>G | CA2463289 | HESX1 | c.294T>C (p.Ser98=) n.851-324T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.57198816A>T | CA434087516 | HESX1 | c.294T>A (p.Ser98=) n.851-324T>A | |
| 3 | g.57198817G>A | CA353401114 | HESX1 | c.293C>T (p.Ser98Phe) n.851-325C>T | dbSNP |
| 3 | g.57198817G>C | CA353401117 | HESX1 | c.293C>G (p.Ser98Cys) n.851-325C>G | |
| 3 | g.57198817G= | CA1367077593 | HESX1 | c.293C= (p.Ser98=) n.851-325C= | |
| 3 | g.57198817G>T | CA353401115 | HESX1 | c.293C>A (p.Ser98Tyr) n.851-325C>A | gnomAD v4 |
| 3 | g.57198818A= | CA1367077595 | HESX1 | c.292T= (p.Ser98=) n.851-326T= | |
| 3 | g.57198818A>C | CA353401119 | HESX1 | c.292T>G (p.Ser98Ala) n.851-326T>G | |
| 3 | g.57198818A>G | CA353401122 | HESX1 | c.292T>C (p.Ser98Pro) n.851-326T>C | |
| 3 | g.57198818A>T | CA353401120 | HESX1 | c.292T>A (p.Ser98Thr) n.851-326T>A | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.57198819C>A | CA434087539 | HESX1 | c.291G>T (p.Leu97=) n.851-327G>T | |
| 3 | g.57198819C>G | CA434087542 | HESX1 | c.291G>C (p.Leu97=) n.851-327G>C | |
| 3 | g.57198819C>T | CA434087545 | HESX1 | c.291G>A (p.Leu97=) n.851-327G>A | |
| 3 | g.57198820A= | CA1367077597 | HESX1 | c.290T= (p.Leu97=) n.851-328T= | |
| 3 | g.57198820A>C | CA353401124 | HESX1 | c.290T>G (p.Leu97Arg) n.851-328T>G | |
| 3 | g.57198820A>G | CA353401126 | HESX1 | c.290T>C (p.Leu97Pro) n.851-328T>C | dbSNP |
| 3 | g.57198820A>T | CA353401127 | HESX1 | c.290T>A (p.Leu97Gln) n.851-328T>A | |
| 3 | g.57198821G>A | CA434087555 | HESX1 | c.289C>T (p.Leu97=) n.851-329C>T | |
| 3 | g.57198821G>C | CA353401128 | HESX1 | c.289C>G (p.Leu97Val) n.851-329C>G | |
| 3 | g.57198821G>T | CA353401130 | HESX1 | c.289C>A (p.Leu97Met) n.851-329C>A | |
| 3 | g.57198822T>A | CA353401132 | HESX1 | c.288A>T (p.Arg96Ser) n.851-330A>T | |
| 3 | g.57198822T>C | CA434087565 | HESX1 | c.288A>G (p.Arg96=) n.851-330A>G | gnomAD v4 |
| 3 | g.57198822T>G | CA353401134 | HESX1 | c.288A>C (p.Arg96Ser) n.851-330A>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.57198822T= | CA1367077598 | HESX1 | c.288A= (p.Arg96=) n.851-330A= | |
| 3 | g.57198823C>A | CA353401136 | HESX1 | c.287G>T (p.Arg96Ile) n.851-331G>T | |
| 3 | g.57198823C>G | CA353401139 | HESX1 | c.287G>C (p.Arg96Thr) n.851-331G>C | |
| 3 | g.57198823C>T | CA353401140 | HESX1 | c.287G>A (p.Arg96Lys) n.851-331G>A | |
| 3 | g.57198824T>A | CA353401142 | HESX1 | c.286A>T (p.Arg96Ter) n.851-332A>T | |
| 3 | g.57198824T>C | CA353401144 | HESX1 | c.286A>G (p.Arg96Gly) n.851-332A>G | dbSNP |
| 3 | g.57198824T>G | CA434087593 | HESX1 | c.286A>C (p.Arg96=) n.851-332A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.57198824T= | CA1367077600 | HESX1 | c.286A= (p.Arg96=) n.851-332A= | |
| 3 | g.57198825T>A | CA353401148 | HESX1 | c.285A>T (p.Glu95Asp) n.851-333A>T | |
| 3 | g.57198825T>C | CA434087597 | HESX1 | c.285A>G (p.Glu95=) n.851-333A>G | |
| 3 | g.57198825T>G | CA353401147 | HESX1 | c.285A>C (p.Glu95Asp) n.851-333A>C | |
| 3 | g.57198826T>A | CA353401151 | HESX1 | c.284A>T (p.Glu95Val) n.851-334A>T | |
| 3 | g.57198826T>C | CA353401153 | HESX1 | c.284A>G (p.Glu95Gly) n.851-334A>G | |
| 3 | g.57198826T>G | CA353401154 | HESX1 | c.284A>C (p.Glu95Ala) n.851-334A>C | |
| 3 | g.57198827C>A | CA353401157 | HESX1 | c.283G>T (p.Glu95Ter) n.851-335G>T | |
| 3 | g.57198827C>G | CA353401158 | HESX1 | c.283G>C (p.Glu95Gln) n.851-335G>C | |
| 3 | g.57198827C>T | CA353401160 | HESX1 | c.283G>A (p.Glu95Lys) n.851-335G>A | |
| 3 | g.57198828T>A | CA434087619 | HESX1 | c.282A>T (p.Ser94=) n.851-336A>T | |
| 3 | g.57198828T>C | CA434087622 | HESX1 | c.282A>G (p.Ser94=) n.851-336A>G | |
| 3 | g.57198828T>G | CA434087624 | HESX1 | c.282A>C (p.Ser94=) n.851-336A>C | |
| 3 | g.57198829G>A | CA353401162 | HESX1 | c.281C>T (p.Ser94Leu) n.851-337C>T | |
| 3 | g.57198829G>C | CA353401164 | HESX1 | c.281C>G (p.Ser94Ter) n.851-337C>G | |
| 3 | g.57198829G>T | CA353401166 | HESX1 | c.281C>A (p.Ser94Ter) n.851-337C>A | |
| 3 | g.57198830A>C | CA353401169 | HESX1 | c.280T>G (p.Ser94Ala) n.851-338T>G | gnomAD v4 |
| 3 | g.57198830A>G | CA353401170 | HESX1 | c.280T>C (p.Ser94Pro) n.851-338T>C | |
| 3 | g.57198830A>T | CA353401172 | HESX1 | c.280T>A (p.Ser94Thr) n.851-338T>A | |
| 3 | g.57198831G>A | CA434087636 | HESX1 | c.279C>T (p.Ala93=) n.851-339C>T | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.57198831G>C | CA434087639 | HESX1 | c.279C>G (p.Ala93=) n.851-339C>G | |
| 3 | g.57198831G= | CA1367077602 | HESX1 | c.279C= (p.Ala93=) n.851-339C= | |
| 3 | g.57198831G>T | CA434087638 | HESX1 | c.279C>A (p.Ala93=) n.851-339C>A | |
| 3 | g.57198832G>A | CA353401177 | HESX1 | c.278C>T (p.Ala93Val) n.851-340C>T | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.57198832G>C | CA353401175 | HESX1 | c.278C>G (p.Ala93Gly) n.851-340C>G | |
| 3 | g.57198832G= | CA1367077605 | HESX1 | c.278C= (p.Ala93=) n.851-340C= | |
| 3 | g.57198832G>T | CA353401174 | HESX1 | c.278C>A (p.Ala93Asp) n.851-340C>A | |
| 3 | g.57198833C>A | CA353401180 | HESX1 | c.277G>T (p.Ala93Ser) n.851-341G>T | |
| 3 | g.57198833C>G | CA353401181 | HESX1 | c.277G>C (p.Ala93Pro) n.851-341G>C | |
| 3 | g.57198833C>T | CA353401183 | HESX1 | c.277G>A (p.Ala93Thr) n.851-341G>A | |
| 3 | g.57198834T>A | CA434087640 | HESX1 | c.276A>T (p.Ser92=) n.851-342A>T | |
| 3 | g.57198834T>C | CA434087643 | HESX1 | c.276A>G (p.Ser92=) n.851-342A>G | |
| 3 | g.57198834T>G | CA434087646 | HESX1 | c.276A>C (p.Ser92=) n.851-342A>C | |
| 3 | g.57198835G>A | CA353401186 | HESX1 | c.275C>T (p.Ser92Leu) n.851-343C>T | |
| 3 | g.57198835G>C | CA353401187 | HESX1 | c.275C>G (p.Ser92Ter) n.851-343C>G | |
| 3 | g.57198835G>T | CA353401189 | HESX1 | c.275C>A (p.Ser92Ter) n.851-343C>A | |
| 3 | g.57198836A>C | CA353401194 | HESX1 | c.274T>G (p.Ser92Ala) n.851-344T>G | |
| 3 | g.57198836A>G | CA353401191 | HESX1 | c.274T>C (p.Ser92Pro) n.851-344T>C | gnomAD v4 |
| 3 | g.57198836A>T | CA353401192 | HESX1 | c.274T>A (p.Ser92Thr) n.851-344T>A | |
| 3 | g.57198837A>C | CA353401197 | HESX1 | c.273T>G (p.Phe91Leu) n.851-345T>G | |
| 3 | g.57198837A>G | CA434087672 | HESX1 | c.273T>C (p.Phe91=) n.851-345T>C | |
| 3 | g.57198837A>T | CA353401198 | HESX1 | c.273T>A (p.Phe91Leu) n.851-345T>A | |
| 3 | g.57198838A>C | CA353401201 | HESX1 | c.272T>G (p.Phe91Cys) n.851-346T>G | |
| 3 | g.57198838A>G | CA353401203 | HESX1 | c.272T>C (p.Phe91Ser) n.851-346T>C | |
| 3 | g.57198838A>T | CA353401204 | HESX1 | c.272T>A (p.Phe91Tyr) n.851-346T>A | |
| 3 | g.57198839A>C | CA353401206 | HESX1 | c.271T>G (p.Phe91Val) n.851-347T>G | |
| 3 | g.57198839A>G | CA353401210 | HESX1 | c.271T>C (p.Phe91Leu) n.851-347T>C | |
| 3 | g.57198839A>T | CA353401208 | HESX1 | c.271T>A (p.Phe91Ile) n.851-347T>A | |
| 3 | g.57198840G>A | CA434087688 | HESX1 | c.270C>T (p.Tyr90=) n.851-348C>T | |
| 3 | g.57198840G>C | CA353401212 | HESX1 | c.270C>G (p.Tyr90Ter) n.851-348C>G | |
| 3 | g.57198840G>T | CA353401214 | HESX1 | c.270C>A (p.Tyr90Ter) n.851-348C>A | |
| 3 | g.57198841T>A | CA353401216 | HESX1 | c.269A>T (p.Tyr90Phe) n.851-349A>T | |
| 3 | g.57198841T>C | CA353401217 | HESX1 | c.269A>G (p.Tyr90Cys) n.851-349A>G | |
| 3 | g.57198841T>G | CA353401219 | HESX1 | c.269A>C (p.Tyr90Ser) n.851-349A>C | |
| 3 | g.57198842A>C | CA353401221 | HESX1 | c.268T>G (p.Tyr90Asp) n.851-350T>G | |
| 3 | g.57198842A>G | CA353401223 | HESX1 | c.268T>C (p.Tyr90His) n.851-350T>C | |
| 3 | g.57198842A>T | CA353401224 | HESX1 | c.268T>A (p.Tyr90Asn) n.851-350T>A | |
| 3 | g.57198843A>C | CA353401227 | HESX1 | c.267T>G (p.Asn89Lys) n.851-351T>G | |
| 3 | g.57198843A>G | CA434087713 | HESX1 | c.267T>C (p.Asn89=) n.851-351T>C | |
| 3 | g.57198843A>T | CA353401229 | HESX1 | c.267T>A (p.Asn89Lys) n.851-351T>A | |
| 3 | g.57198844T>A | CA353401231 | HESX1 | c.266A>T (p.Asn89Ile) n.851-352A>T | |
| 3 | g.57198844T>C | CA353401235 | HESX1 | c.266A>G (p.Asn89Ser) n.851-352A>G | |
| 3 | g.57198844T>G | CA353401233 | HESX1 | c.266A>C (p.Asn89Thr) n.851-352A>C | |
| 3 | g.57198845T>A | CA353401237 | HESX1 | c.265A>T (p.Asn89Tyr) n.851-353A>T | |
| 3 | g.57198845T>C | CA353401241 | HESX1 | c.265A>G (p.Asn89Asp) n.851-353A>G | |
| 3 | g.57198845T>G | CA353401239 | HESX1 | c.265A>C (p.Asn89His) n.851-353A>C | |
| 3 | g.57198846T>A | CA353401243 | HESX1 | c.264A>T (p.Glu88Asp) n.851-354A>T | |
| 3 | g.57198846T>C | CA434087733 | HESX1 | c.264A>G (p.Glu88=) n.851-354A>G | |
| 3 | g.57198846T>G | CA353401245 | HESX1 | c.264A>C (p.Glu88Asp) n.851-354A>C | |
| 3 | g.57198847T>A | CA353401247 | HESX1 | c.263A>T (p.Glu88Val) n.851-355A>T | |
| 3 | g.57198847T>C | CA353401250 | HESX1 | c.263A>G (p.Glu88Gly) n.851-355A>G | gnomAD v4 |
| 3 | g.57198847T>G | CA353401249 | HESX1 | c.263A>C (p.Glu88Ala) n.851-355A>C | |
| 3 | g.57198848C>A | CA353401252 | HESX1 | c.262G>T (p.Glu88Ter) n.851-356G>T | |
| 3 | g.57198848C= | CA1367077610 | HESX1 | c.262G= (p.Glu88=) n.851-356G= | |
| 3 | g.57198848C>G | CA353401253 | HESX1 | c.262G>C (p.Glu88Gln) n.851-356G>C | |
| 3 | g.57198848C>T | CA353401255 | HESX1 | c.262G>A (p.Glu88Lys) n.851-356G>A | dbSNP |
| 3 | g.57198849A>C | CA353401257 | HESX1 | c.261T>G (p.Tyr87Ter) n.851-357T>G | |
| 3 | g.57198849A>G | CA434087758 | HESX1 | c.261T>C (p.Tyr87=) n.851-357T>C | |
| 3 | g.57198849A>T | CA353401258 | HESX1 | c.261T>A (p.Tyr87Ter) n.851-357T>A | |
| 3 | g.57198850T>A | CA353401261 | HESX1 | c.260A>T (p.Tyr87Phe) n.851-358A>T | |
| 3 | g.57198850T>C | CA353401262 | HESX1 | c.260A>G (p.Tyr87Cys) n.851-358A>G | |
| 3 | g.57198850T>G | CA353401265 | HESX1 | c.260A>C (p.Tyr87Ser) n.851-358A>C | |
| 3 | g.57198851A>C | CA353401267 | HESX1 | c.259T>G (p.Tyr87Asp) n.851-359T>G | |
| 3 | g.57198851A>G | CA353401269 | HESX1 | c.259T>C (p.Tyr87His) n.851-359T>C | |
| 3 | g.57198851A>T | CA353401271 | HESX1 | c.259T>A (p.Tyr87Asn) n.851-359T>A | |
| 3 | g.57198852T>A | CA353401273 | HESX1 | c.258A>T (p.Lys86Asn) n.851-360A>T | |
| 3 | g.57198852T>C | CA434087776 | HESX1 | c.258A>G (p.Lys86=) n.851-360A>G | |
| 3 | g.57198852T>G | CA353401275 | HESX1 | c.258A>C (p.Lys86Asn) n.851-360A>C | |
| 3 | g.57198853T>A | CA353401277 | HESX1 | c.257A>T (p.Lys86Ile) n.851-361A>T | |
| 3 | g.57198853T>C | CA353401279 | HESX1 | c.257A>G (p.Lys86Arg) n.851-361A>G | |
| 3 | g.57198853T>G | CA75378674 | HESX1 | c.257A>C (p.Lys86Thr) n.851-361A>C | dbSNP gnomAD v4 |
| 3 | g.57198853T= | CA1367077612 | HESX1 | c.257A= (p.Lys86=) n.851-361A= | |
| 3 | g.57198854T>A | CA353401282 | HESX1 | c.256A>T (p.Lys86Ter) n.851-362A>T | |
| 3 | g.57198854T>C | CA353401284 | HESX1 | c.256A>G (p.Lys86Glu) n.851-362A>G | |
| 3 | g.57198854T>G | CA353401286 | HESX1 | c.256A>C (p.Lys86Gln) n.851-362A>C | gnomAD v4 |
| 3 | g.57198855C>A | CA434087800 | HESX1 | c.255G>T (p.Ser85=) n.851-363G>T | |
| 3 | g.57198855C= | CA1367077615 | HESX1 | c.255G= (p.Ser85=) n.851-363G= | |
| 3 | g.57198855C>G | CA434087801 | HESX1 | c.255G>C (p.Ser85=) n.851-363G>C | gnomAD v4 |
| 3 | g.57198855C>T | CA2463290 | HESX1 | c.255G>A (p.Ser85=) n.851-363G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.57198856G>A | CA2463291 | HESX1 | c.254C>T (p.Ser85Leu) n.851-364C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.57198856G>C | CA353401290 | HESX1 | c.254C>G (p.Ser85Trp) n.851-364C>G | |
| 3 | g.57198856G= | CA1367077621 | HESX1 | c.254C= (p.Ser85=) n.851-364C= | |
| 3 | g.57198856G>T | CA353401292 | HESX1 | c.254C>A (p.Ser85Ter) n.851-364C>A | ClinVar dbSNP |
| 3 | g.57198857A>C | CA353401296 | HESX1 | c.253T>G (p.Ser85Ala) n.851-365T>G | |
| 3 | g.57198857A>G | CA353401298 | HESX1 | c.253T>C (p.Ser85Pro) n.851-365T>C | |
| 3 | g.57198857A>T | CA353401295 | HESX1 | c.253T>A (p.Ser85Thr) n.851-365T>A | |
| 3 | g.57198858A>C | CA434087823 | HESX1 | c.252T>G (p.Ala84=) n.851-366T>G | |
| 3 | g.57198858A>G | CA434087826 | HESX1 | c.252T>C (p.Ala84=) n.851-366T>C | |
| 3 | g.57198858A>T | CA434087830 | HESX1 | c.252T>A (p.Ala84=) n.851-366T>A | |
| 3 | g.57198859G>A | CA353401299 | HESX1 | c.251C>T (p.Ala84Val) n.851-367C>T | |
| 3 | g.57198859G>C | CA353401301 | HESX1 | c.251C>G (p.Ala84Gly) n.851-367C>G | |
| 3 | g.57198859G>T | CA353401303 | HESX1 | c.251C>A (p.Ala84Asp) n.851-367C>A | |
| 3 | g.57198859_57198861delinsGCT | CA1367077626 | HESX1 | c.249_251delinsAGC (p.Arg83=) n.851-369_851-367delinsAGC | |
| 3 | g.57198860C>A | CA353401306 | HESX1 | c.250G>T (p.Ala84Ser) n.851-368G>T | |
| 3 | g.57198860C>G | CA353401307 | HESX1 | c.250G>C (p.Ala84Pro) n.851-368G>C | |
| 3 | g.57198860C>T | CA353401309 | HESX1 | c.250G>A (p.Ala84Thr) n.851-368G>A | gnomAD v4 |
| 3 | g.57198862_57198863del | CA543533230 | HESX1 | c.249_250del (p.Arg83SerfsTer5) n.851-369_851-368del | dbSNP gnomAD v2 |
| 3 | g.57198860_57198864delinsCTCTT | CA1367077629 | HESX1 | c.246_250delinsAAGAG (p.Glu82=) n.851-372_851-368delinsAAGAG | |
| 3 | g.57198861T>A | CA353401311 | HESX1 | c.249A>T (p.Arg83Ser) n.851-369A>T | |
| 3 | g.57198861T>C | CA434087837 | HESX1 | c.249A>G (p.Arg83=) n.851-369A>G | gnomAD v4 |
| 3 | g.57198861T>G | CA353401313 | HESX1 | c.249A>C (p.Arg83Ser) n.851-369A>C | |
| 3 | g.57198865_57198868del | CA2463292 | HESX1 | c.246_249del (p.Arg83LeufsTer16) n.851-372_851-369del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.57198862C>A | CA353401317 | HESX1 | c.248G>T (p.Arg83Ile) n.851-370G>T | |
| 3 | g.57198862C>G | CA353401319 | HESX1 | c.248G>C (p.Arg83Thr) n.851-370G>C | |
| 3 | g.57198862C>T | CA353401321 | HESX1 | c.248G>A (p.Arg83Lys) n.851-370G>A | |
| 3 | g.57198863T>A | CA353401325 | HESX1 | c.247A>T (p.Arg83Ter) n.851-371A>T | |
| 3 | g.57198863T>C | CA353401323 | HESX1 | c.247A>G (p.Arg83Gly) n.851-371A>G | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.57198863T>G | CA434087845 | HESX1 | c.247A>C (p.Arg83=) n.851-371A>C | |
| 3 | g.57198863T= | CA1367077632 | HESX1 | c.247A= (p.Arg83=) n.851-371A= | |
| 3 | g.57198864T>A | CA353401328 | HESX1 | c.246A>T (p.Glu82Asp) n.851-372A>T | |
| 3 | g.57198864T>C | CA434087848 | HESX1 | c.246A>G (p.Glu82=) n.851-372A>G | |
| 3 | g.57198864T>G | CA353401329 | HESX1 | c.246A>C (p.Glu82Asp) n.851-372A>C | |
| 3 | g.57198865T>A | CA353401332 | HESX1 | c.245A>T (p.Glu82Val) n.851-373A>T | |
| 3 | g.57198865T>C | CA353401334 | HESX1 | c.245A>G (p.Glu82Gly) n.851-373A>G | |
| 3 | g.57198865T>G | CA353401335 | HESX1 | c.245A>C (p.Glu82Ala) n.851-373A>C | |
| 3 | g.57198866C>A | CA353401338 | HESX1 | c.244G>T (p.Glu82Ter) n.851-374G>T | |
| 3 | g.57198866C= | CA1367077634 | HESX1 | c.244G= (p.Glu82=) n.851-374G= | |
| 3 | g.57198866C>G | CA75378675 | HESX1 | c.244G>C (p.Glu82Gln) n.851-374G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.57198866C>T | CA353401343 | HESX1 | c.244G>A (p.Glu82Lys) n.851-374G>A | |
| 3 | g.57198867T>A | CA353401345 | HESX1 | c.243A>T (p.Glu81Asp) n.851-375A>T | |
| 3 | g.57198867T>C | CA434087863 | HESX1 | c.243A>G (p.Glu81=) n.851-375A>G | |
| 3 | g.57198867T>G | CA353401347 | HESX1 | c.243A>C (p.Glu81Asp) n.851-375A>C | dbSNP gnomAD v2 |
| 3 | g.57198867T= | CA1367077635 | HESX1 | c.243A= (p.Glu81=) n.851-375A= | |
| 3 | g.57198868T>A | CA353401350 | HESX1 | c.242A>T (p.Glu81Val) n.851-376A>T | |
| 3 | g.57198868T>C | CA353401351 | HESX1 | c.242A>G (p.Glu81Gly) n.851-376A>G | |
| 3 | g.57198868T>G | CA353401353 | HESX1 | c.242A>C (p.Glu81Ala) n.851-376A>C | |
| 3 | g.57198869C>A | CA353401361 | HESX1 | c.241G>T (p.Glu81Ter) n.851-377G>T | ClinVar |
| 3 | g.57198869C= | CA1367077638 | HESX1 | c.241G= (p.Glu81=) n.851-377G= | |
| 3 | g.57198869C>G | CA353401363 | HESX1 | c.241G>C (p.Glu81Gln) n.851-377G>C | |
| 3 | g.57198869C>T | CA2463294 | HESX1 | c.241G>A (p.Glu81Lys) n.851-377G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.57198869_57198870delinsCT | CA1367077637 | HESX1 | c.240_241delinsAG (p.Pro80=) n.851-378_851-377delinsAG | |
| 3 | g.57198870del | CA2463293 | HESX1 | c.240del (p.Glu81LysfsTer19) n.851-378del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.57198870T>A | CA434087875 | HESX1 | c.240A>T (p.Pro80=) n.851-378A>T | |
| 3 | g.57198870T>C | CA434087877 | HESX1 | c.240A>G (p.Pro80=) n.851-378A>G | |
| 3 | g.57198870T>G | CA434087879 | HESX1 | c.240A>C (p.Pro80=) n.851-378A>C | |
| 3 | g.57198871G>A | CA353401366 | HESX1 | c.239C>T (p.Pro80Leu) n.851-379C>T | |
| 3 | g.57198871G>C | CA353401369 | HESX1 | c.239C>G (p.Pro80Arg) n.851-379C>G | |
| 3 | g.57198871G>T | CA353401371 | HESX1 | c.239C>A (p.Pro80Gln) n.851-379C>A | |
| 3 | g.57198872G>A | CA353401373 | HESX1 | c.238C>T (p.Pro80Ser) n.851-380C>T | |
| 3 | g.57198872G>C | CA353401375 | HESX1 | c.238C>G (p.Pro80Ala) n.851-380C>G | |
| 3 | g.57198872G>T | CA353401377 | HESX1 | c.238C>A (p.Pro80Thr) n.851-380C>A | |
| 3 | g.57198873C>A | CA353401379 | HESX1 | c.237G>T (p.Met79Ile) n.851-381G>T | |
| 3 | g.57198873C>G | CA353401381 | HESX1 | c.237G>C (p.Met79Ile) n.851-381G>C | |
| 3 | g.57198873C>T | CA353401382 | HESX1 | c.237G>A (p.Met79Ile) n.851-381G>A | |
| 3 | g.57198874A>C | CA353401384 | HESX1 | c.236T>G (p.Met79Arg) n.851-382T>G | |
| 3 | g.57198874A>G | CA353401386 | HESX1 | c.236T>C (p.Met79Thr) n.851-382T>C | gnomAD v4 |
| 3 | g.57198874A>T | CA353401388 | HESX1 | c.236T>A (p.Met79Lys) n.851-382T>A | |
| 3 | g.57198875T>A | CA353401393 | HESX1 | c.235A>T (p.Met79Leu) n.851-383A>T | |
| 3 | g.57198875T>C | CA353401390 | HESX1 | c.235A>G (p.Met79Val) n.851-383A>G | dbSNP gnomAD v4 |
| 3 | g.57198875T>G | CA353401392 | HESX1 | c.235A>C (p.Met79Leu) n.851-383A>C | |
| 3 | g.57198875T= | CA1367077645 | HESX1 | c.235A= (p.Met79=) n.851-383A= | |
| 3 | g.57198876T>A | CA434087896 | HESX1 | c.234A>T (p.Pro78=) n.851-384A>T | |
| 3 | g.57198876T>C | CA434087897 | HESX1 | c.234A>G (p.Pro78=) n.851-384A>G | |
| 3 | g.57198876T>G | CA434087899 | HESX1 | c.234A>C (p.Pro78=) n.851-384A>C | |
| 3 | g.57198877G>A | CA353401396 | HESX1 | c.233C>T (p.Pro78Leu) n.851-385C>T | |
| 3 | g.57198877G>C | CA353401398 | HESX1 | c.233C>G (p.Pro78Arg) n.851-385C>G | |
| 3 | g.57198877G>T | CA353401399 | HESX1 | c.233C>A (p.Pro78Gln) n.851-385C>A | |
| 3 | g.57198878G>A | CA353401401 | HESX1 | c.232C>T (p.Pro78Ser) n.851-386C>T | |
| 3 | g.57198878G>C | CA2463295 | HESX1 | c.232C>G (p.Pro78Ala) n.851-386C>G | dbSNP ExAC gnomAD v2 |
| 3 | g.57198878G= | CA1367077648 | HESX1 | c.232C= (p.Pro78=) n.851-386C= | |
| 3 | g.57198878G>T | CA353401404 | HESX1 | c.232C>A (p.Pro78Thr) n.851-386C>A | |
| 3 | g.57198879G>A | CA434087909 | HESX1 | c.231C>T (p.His77=) n.851-387C>T | gnomAD v4 |
| 3 | g.57198879G>C | CA353401405 | HESX1 | c.231C>G (p.His77Gln) n.851-387C>G | |
| 3 | g.57198879G>T | CA353401406 | HESX1 | c.231C>A (p.His77Gln) n.851-387C>A | |
| 3 | g.57198880T>A | CA353401407 | HESX1 | c.230A>T (p.His77Leu) n.851-388A>T | |
| 3 | g.57198880T>C | CA353401408 | HESX1 | c.230A>G (p.His77Arg) n.851-388A>G | dbSNP gnomAD v4 |
| 3 | g.57198880T>G | CA353401409 | HESX1 | c.230A>C (p.His77Pro) n.851-388A>C | |
| 3 | g.57198880T= | CA1367077651 | HESX1 | c.230A= (p.His77=) n.851-388A= | |
| 3 | g.57198881G>A | CA353401411 | HESX1 | c.229C>T (p.His77Tyr) n.851-389C>T | |
| 3 | g.57198881G>C | CA353401412 | HESX1 | c.229C>G (p.His77Asp) n.851-389C>G | |
| 3 | g.57198881G>T | CA353401410 | HESX1 | c.229C>A (p.His77Asn) n.851-389C>A | |
| 3 | g.57198882A>C | CA353401413 | HESX1 | c.228T>G (p.Asp76Glu) n.851-390T>G | |
| 3 | g.57198882A>G | CA434087921 | HESX1 | c.228T>C (p.Asp76=) n.851-390T>C | |
| 3 | g.57198882A>T | CA353401414 | HESX1 | c.228T>A (p.Asp76Glu) n.851-390T>A | |
| 3 | g.57198883T>A | CA353401415 | HESX1 | c.227A>T (p.Asp76Val) n.851-391A>T | |
| 3 | g.57198883T>C | CA353401417 | HESX1 | c.227A>G (p.Asp76Gly) n.851-391A>G | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.57198883T>G | CA353401419 | HESX1 | c.227A>C (p.Asp76Ala) n.851-391A>C | |
| 3 | g.57198883T= | CA1367077653 | HESX1 | c.227A= (p.Asp76=) n.851-391A= | |
| 3 | g.57198884C>A | CA353401426 | HESX1 | c.226G>T (p.Asp76Tyr) n.851-392G>T | |
| 3 | g.57198884C>G | CA353401424 | HESX1 | c.226G>C (p.Asp76His) n.851-392G>C | COSMIC |
| 3 | g.57198884C>T | CA353401422 | HESX1 | c.226G>A (p.Asp76Asn) n.851-392G>A | |
| 3 | g.57198885C>A | CA434087933 | HESX1 | c.225G>T (p.Val75=) n.851-393G>T | |
| 3 | g.57198885C= | CA1367077654 | HESX1 | c.225G= (p.Val75=) n.851-393G= | |
| 3 | g.57198885C>G | CA434087935 | HESX1 | c.225G>C (p.Val75=) n.851-393G>C | |
| 3 | g.57198885C>T | CA434087937 | HESX1 | c.225G>A (p.Val75=) n.851-393G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.57198886A>C | CA353401428 | HESX1 | c.224T>G (p.Val75Gly) n.851-394T>G | ClinVar |
| 3 | g.57198886A>G | CA353401430 | HESX1 | c.224T>C (p.Val75Ala) n.851-394T>C | |
| 3 | g.57198886A>T | CA353401431 | HESX1 | c.224T>A (p.Val75Glu) n.851-394T>A | |
| 3 | g.57198887C>A | CA353401435 | HESX1 | c.223G>T (p.Val75Leu) n.851-395G>T | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.57198887C= | CA1367077656 | HESX1 | c.223G= (p.Val75=) n.851-395G= | |
| 3 | g.57198887C>G | CA353401436 | HESX1 | c.223G>C (p.Val75Leu) n.851-395G>C | |
| 3 | g.57198887C>T | CA353401439 | HESX1 | c.223G>A (p.Val75Met) n.851-395G>A | gnomAD v4 |
| 3 | g.57198888C>A | CA434087953 | HESX1 | c.222G>T (p.Val74=) n.851-396G>T | |
| 3 | g.57198888C>G | CA434087951 | HESX1 | c.222G>C (p.Val74=) n.851-396G>C | |
| 3 | g.57198888C>T | CA434087952 | HESX1 | c.222G>A (p.Val74=) n.851-396G>A | gnomAD v4 |
| 3 | g.57198889A>C | CA353401441 | HESX1 | c.221T>G (p.Val74Gly) n.851-397T>G | |
| 3 | g.57198889A>G | CA353401445 | HESX1 | c.221T>C (p.Val74Ala) n.851-397T>C | |
| 3 | g.57198889A>T | CA353401443 | HESX1 | c.221T>A (p.Val74Glu) n.851-397T>A | |
| 3 | g.57198890C>A | CA353401447 | HESX1 | c.220G>T (p.Val74Leu) n.851-398G>T | |
| 3 | g.57198890C= | CA1367077658 | HESX1 | c.220G= (p.Val74=) n.851-398G= | |
| 3 | g.57198890C>G | CA353401449 | HESX1 | c.220G>C (p.Val74Leu) n.851-398G>C | |
| 3 | g.57198890C>T | CA2463296 | HESX1 | c.220G>A (p.Val74Met) n.851-398G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.57198891G>A | CA2463297 | HESX1 | c.219C>T (p.Ser73=) n.851-399C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.57198891G>C | CA353401453 | HESX1 | c.219C>G (p.Ser73Arg) n.851-399C>G | |
| 3 | g.57198891G= | CA1367077660 | HESX1 | c.219C= (p.Ser73=) n.851-399C= | |
| 3 | g.57198891G>T | CA353401455 | HESX1 | c.219C>A (p.Ser73Arg) n.851-399C>A | |
| 3 | g.57198892C>A | CA353401458 | HESX1 | c.218G>T (p.Ser73Ile) n.851-400G>T | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.57198892C= | CA1367077662 | HESX1 | c.218G= (p.Ser73=) n.851-400G= | |
| 3 | g.57198892C>G | CA353401459 | HESX1 | c.218G>C (p.Ser73Thr) n.851-400G>C | |
| 3 | g.57198892C>T | CA2463298 | HESX1 | c.218G>A (p.Ser73Asn) n.851-400G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.57198893T>A | CA353401462 | HESX1 | c.217A>T (p.Ser73Cys) n.851-401A>T | |
| 3 | g.57198893T>C | CA353401464 | HESX1 | c.217A>G (p.Ser73Gly) n.851-401A>G | gnomAD v4 |
| 3 | g.57198893T>G | CA353401466 | HESX1 | c.217A>C (p.Ser73Arg) n.851-401A>C | gnomAD v4 |
| 3 | g.57198894A= | CA1367077664 | HESX1 | c.216T= (p.Pro72=) n.851-402T= | |
| 3 | g.57198894A>C | CA434087973 | HESX1 | c.216T>G (p.Pro72=) n.851-402T>G | dbSNP |
| 3 | g.57198894A>G | CA434087975 | HESX1 | c.216T>C (p.Pro72=) n.851-402T>C | gnomAD v4 |
| 3 | g.57198894A>T | CA434087977 | HESX1 | c.216T>A (p.Pro72=) n.851-402T>A | |
| 3 | g.57198895G>A | CA353401470 | HESX1 | c.215C>T (p.Pro72Leu) n.851-403C>T | gnomAD v4 |
| 3 | g.57198895G>C | CA353401472 | HESX1 | c.215C>G (p.Pro72Arg) n.851-403C>G | |
| 3 | g.57198895G>T | CA353401468 | HESX1 | c.215C>A (p.Pro72His) n.851-403C>A | |
| 3 | g.57198896G>A | CA353401477 | HESX1 | c.214C>T (p.Pro72Ser) n.851-404C>T | |
| 3 | g.57198896G>C | CA353401474 | HESX1 | c.214C>G (p.Pro72Ala) n.851-404C>G | |
| 3 | g.57198896G>T | CA353401475 | HESX1 | c.214C>A (p.Pro72Thr) n.851-404C>A | |
| 3 | g.57198897G>A | CA434087994 | HESX1 | c.213C>T (p.Phe71=) n.851-405C>T | gnomAD v4 |
| 3 | g.57198897G>C | CA353401483 | HESX1 | c.213C>G (p.Phe71Leu) n.851-405C>G | |
| 3 | g.57198897G>T | CA353401485 | HESX1 | c.213C>A (p.Phe71Leu) n.851-405C>A | |
| 3 | g.57198898A>C | CA353401488 | HESX1 | c.212T>G (p.Phe71Cys) n.851-406T>G | |
| 3 | g.57198898A>G | CA353401489 | HESX1 | c.212T>C (p.Phe71Ser) n.851-406T>C | |
| 3 | g.57198898A>T | CA353401492 | HESX1 | c.212T>A (p.Phe71Tyr) n.851-406T>A | |
| 3 | g.57198899A>C | CA353401494 | HESX1 | c.211T>G (p.Phe71Val) n.851-407T>G | |
| 3 | g.57198899A>G | CA353401495 | HESX1 | c.211T>C (p.Phe71Leu) n.851-407T>C | |
| 3 | g.57198899A>T | CA353401497 | HESX1 | c.211T>A (p.Phe71Ile) n.851-407T>A | |
| 3 | g.57198900T>A | CA434088020 | HESX1 | c.210A>T (p.Ser70=) n.851-408A>T | |
| 3 | g.57198900T>C | CA434088023 | HESX1 | c.210A>G (p.Ser70=) n.851-408A>G | |
| 3 | g.57198900T>G | CA434088026 | HESX1 | c.210A>C (p.Ser70=) n.851-408A>C | |
| 3 | g.57198901G>A | CA353401499 | HESX1 | c.209C>T (p.Ser70Leu) n.851-409C>T | COSMIC |
| 3 | g.57198901G>C | CA353401501 | HESX1 | c.209C>G (p.Ser70Ter) n.851-409C>G | |
| 3 | g.57198901G>T | CA353401503 | HESX1 | c.209C>A (p.Ser70Ter) n.851-409C>A | |
| 3 | g.57198902A>C | CA353401507 | HESX1 | c.208T>G (p.Ser70Ala) n.851-410T>G | |
| 3 | g.57198902A>G | CA353401509 | HESX1 | c.208T>C (p.Ser70Pro) n.851-410T>C | |
| 3 | g.57198902A>T | CA353401505 | HESX1 | c.208T>A (p.Ser70Thr) n.851-410T>A | |
| 3 | g.57198903A= | CA1367077665 | HESX1 | c.207T= (p.Ile69=) n.851-411T= | |
| 3 | g.57198903A>C | CA353401512 | HESX1 | c.207T>G (p.Ile69Met) n.851-411T>G | |
| 3 | g.57198903A>G | CA434088039 | HESX1 | c.207T>C (p.Ile69=) n.851-411T>C | |
| 3 | g.57198903A>T | CA2463299 | HESX1 | c.207T>A (p.Ile69=) n.851-411T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.57198904A>C | CA353401515 | HESX1 | c.206T>G (p.Ile69Ser) n.851-412T>G | |
| 3 | g.57198904A>G | CA353401517 | HESX1 | c.206T>C (p.Ile69Thr) n.851-412T>C | |
| 3 | g.57198904A>T | CA353401519 | HESX1 | c.206T>A (p.Ile69Asn) n.851-412T>A | |
| 3 | g.57198905T>A | CA353401525 | HESX1 | c.205A>T (p.Ile69Phe) n.851-413A>T | |
| 3 | g.57198905T>C | CA353401522 | HESX1 | c.205A>G (p.Ile69Val) n.851-413A>G | |
| 3 | g.57198905T>G | CA353401524 | HESX1 | c.205A>C (p.Ile69Leu) n.851-413A>C | |
| 3 | g.57198906C>A | CA434088053 | HESX1 | c.204G>T (p.Gly68=) n.851-414G>T | |
| 3 | g.57198906C>G | CA434088054 | HESX1 | c.204G>C (p.Gly68=) n.851-414G>C | |
| 3 | g.57198906C>T | CA434088056 | HESX1 | c.204G>A (p.Gly68=) n.851-414G>A | |
| 3 | g.57198907C>A | CA353401526 | HESX1 | c.203G>T (p.Gly68Val) n.851-415G>T | gnomAD v4 |
| 3 | g.57198907C>G | CA353401527 | HESX1 | c.203G>C (p.Gly68Ala) n.851-415G>C | |
| 3 | g.57198907C>T | CA353401528 | HESX1 | c.203G>A (p.Gly68Glu) n.851-415G>A | |
| 3 | g.57198908C>A | CA353401529 | HESX1 | c.202G>T (p.Gly68Trp) n.851-416G>T | |
| 3 | g.57198908C= | CA1367077667 | HESX1 | c.202G= (p.Gly68=) n.851-416G= | |
| 3 | g.57198908C>G | CA353401530 | HESX1 | c.202G>C (p.Gly68Arg) n.851-416G>C | |
| 3 | g.57198908C>T | CA2463300 | HESX1 | c.202G>A (p.Gly68Arg) n.851-416G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.57198909A>C | CA353401531 | HESX1 | c.201T>G (p.Ser67Arg) n.851-417T>G | |
| 3 | g.57198909A>G | CA434088072 | HESX1 | c.201T>C (p.Ser67=) n.851-417T>C | |
| 3 | g.57198909A>T | CA353401532 | HESX1 | c.201T>A (p.Ser67Arg) n.851-417T>A | |
| 3 | g.57198910C>A | CA353401533 | HESX1 | c.200G>T (p.Ser67Ile) n.851-418G>T | gnomAD v4 |
| 3 | g.57198910C= | CA1367077674 | HESX1 | c.200G= (p.Ser67=) n.851-418G= | |
| 3 | g.57198910C>G | CA2463301 | HESX1 | c.200G>C (p.Ser67Thr) n.851-418G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.57198910C>T | CA2463302 | HESX1 | c.200G>A (p.Ser67Asn) n.851-418G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.57198911T>A | CA353401534 | HESX1 | c.199A>T (p.Ser67Cys) n.851-419A>T | |
| 3 | g.57198911T>C | CA353401535 | HESX1 | c.199A>G (p.Ser67Gly) n.851-419A>G | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.57198911T>G | CA353401536 | HESX1 | c.199A>C (p.Ser67Arg) n.851-419A>C | |
| 3 | g.57198911T= | CA1367077678 | HESX1 | c.199A= (p.Ser67=) n.851-419A= |