| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.8117792_8126946del | CA2573154518 | ClinVar | ||
| 17 | g.8121951G>A | CA497955266 | HES7 | c.313C>T (p.Leu105=) c.298C>T (p.Leu100=) c.289C>T (p.Leu97=) c.418C>T (p.Leu140=) c.409C>T (p.Leu137=) c.400C>T (p.Leu134=) c.271C>T (p.Leu91=) n.69+2137G>A | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8121951G>C | CA397988684 | HES7 | c.313C>G (p.Leu105Val) c.298C>G (p.Leu100Val) c.289C>G (p.Leu97Val) c.418C>G (p.Leu140Val) c.409C>G (p.Leu137Val) c.400C>G (p.Leu134Val) c.271C>G (p.Leu91Val) n.69+2137G>C | gnomAD v4 |
| 17 | g.8121951G= | CA2246160757 | HES7 | c.313C= (p.Leu105=) c.298C= (p.Leu100=) c.289C= (p.Leu97=) c.418C= (p.Leu140=) c.409C= (p.Leu137=) c.400C= (p.Leu134=) c.271C= (p.Leu91=) n.69+2137G= | |
| 17 | g.8121951G>T | CA397988686 | HES7 | c.313C>A (p.Leu105Met) c.298C>A (p.Leu100Met) c.289C>A (p.Leu97Met) c.418C>A (p.Leu140Met) c.409C>A (p.Leu137Met) c.400C>A (p.Leu134Met) c.271C>A (p.Leu91Met) n.69+2137G>T | gnomAD v4 |
| 17 | g.8121952G>A | CA497955267 | HES7 | c.312C>T (p.Cys104=) c.297C>T (p.Cys99=) c.288C>T (p.Cys96=) c.417C>T (p.Cys139=) c.408C>T (p.Cys136=) c.399C>T (p.Cys133=) c.270C>T (p.Cys90=) n.69+2138G>A | gnomAD v4 |
| 17 | g.8121952G>C | CA397988688 | HES7 | c.312C>G (p.Cys104Trp) c.297C>G (p.Cys99Trp) c.288C>G (p.Cys96Trp) c.417C>G (p.Cys139Trp) c.408C>G (p.Cys136Trp) c.399C>G (p.Cys133Trp) c.270C>G (p.Cys90Trp) n.69+2138G>C | |
| 17 | g.8121952G= | CA2246160763 | HES7 | c.312C= (p.Cys104=) c.297C= (p.Cys99=) c.288C= (p.Cys96=) c.417C= (p.Cys139=) c.408C= (p.Cys136=) c.399C= (p.Cys133=) c.270C= (p.Cys90=) n.69+2138G= | |
| 17 | g.8121952G>T | CA397988689 | HES7 | c.312C>A (p.Cys104Ter) c.297C>A (p.Cys99Ter) c.288C>A (p.Cys96Ter) c.417C>A (p.Cys139Ter) c.408C>A (p.Cys136Ter) c.399C>A (p.Cys133Ter) c.270C>A (p.Cys90Ter) n.69+2138G>T | dbSNP gnomAD v4 |
| 17 | g.8121953C>A | CA397988694 | HES7 | c.311G>T (p.Cys104Phe) c.296G>T (p.Cys99Phe) c.287G>T (p.Cys96Phe) c.416G>T (p.Cys139Phe) c.407G>T (p.Cys136Phe) c.398G>T (p.Cys133Phe) c.269G>T (p.Cys90Phe) n.69+2139C>A | gnomAD v4 |
| 17 | g.8121953C>G | CA397988692 | HES7 | c.311G>C (p.Cys104Ser) c.296G>C (p.Cys99Ser) c.287G>C (p.Cys96Ser) c.416G>C (p.Cys139Ser) c.407G>C (p.Cys136Ser) c.398G>C (p.Cys133Ser) c.269G>C (p.Cys90Ser) n.69+2139C>G | |
| 17 | g.8121953C>T | CA397988690 | HES7 | c.311G>A (p.Cys104Tyr) c.296G>A (p.Cys99Tyr) c.287G>A (p.Cys96Tyr) c.416G>A (p.Cys139Tyr) c.407G>A (p.Cys136Tyr) c.398G>A (p.Cys133Tyr) c.269G>A (p.Cys90Tyr) n.69+2139C>T | gnomAD v4 |
| 17 | g.8121954A>C | CA397988700 | HES7 | c.310T>G (p.Cys104Gly) c.295T>G (p.Cys99Gly) c.286T>G (p.Cys96Gly) c.415T>G (p.Cys139Gly) c.406T>G (p.Cys136Gly) c.397T>G (p.Cys133Gly) c.268T>G (p.Cys90Gly) n.69+2140A>C | |
| 17 | g.8121954A>G | CA397988696 | HES7 | c.310T>C (p.Cys104Arg) c.295T>C (p.Cys99Arg) c.286T>C (p.Cys96Arg) c.415T>C (p.Cys139Arg) c.406T>C (p.Cys136Arg) c.397T>C (p.Cys133Arg) c.268T>C (p.Cys90Arg) n.69+2140A>G | |
| 17 | g.8121954A>T | CA397988698 | HES7 | c.310T>A (p.Cys104Ser) c.295T>A (p.Cys99Ser) c.286T>A (p.Cys96Ser) c.415T>A (p.Cys139Ser) c.406T>A (p.Cys136Ser) c.397T>A (p.Cys133Ser) c.268T>A (p.Cys90Ser) n.69+2140A>T | |
| 17 | g.8121955C>A | CA8368664 | HES7 | c.309G>T (p.Glu103Asp) c.294G>T (p.Glu98Asp) c.285G>T (p.Glu95Asp) c.414G>T (p.Glu138Asp) c.405G>T (p.Glu135Asp) c.396G>T (p.Glu132Asp) c.267G>T (p.Glu89Asp) n.69+2141C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.8121955C= | CA2246160771 | HES7 | c.309G= (p.Glu103=) c.294G= (p.Glu98=) c.285G= (p.Glu95=) c.414G= (p.Glu138=) c.405G= (p.Glu135=) c.396G= (p.Glu132=) c.267G= (p.Glu89=) n.69+2141C= | |
| 17 | g.8121955C>G | CA397988703 | HES7 | c.309G>C (p.Glu103Asp) c.294G>C (p.Glu98Asp) c.285G>C (p.Glu95Asp) c.414G>C (p.Glu138Asp) c.405G>C (p.Glu135Asp) c.396G>C (p.Glu132Asp) c.267G>C (p.Glu89Asp) n.69+2141C>G | |
| 17 | g.8121955C>T | CA497955280 | HES7 | c.309G>A (p.Glu103=) c.294G>A (p.Glu98=) c.285G>A (p.Glu95=) c.414G>A (p.Glu138=) c.405G>A (p.Glu135=) c.396G>A (p.Glu132=) c.267G>A (p.Glu89=) n.69+2141C>T | gnomAD v4 |
| 17 | g.8121956T>A | CA397988704 | HES7 | c.308A>T (p.Glu103Val) c.293A>T (p.Glu98Val) c.284A>T (p.Glu95Val) c.413A>T (p.Glu138Val) c.404A>T (p.Glu135Val) c.395A>T (p.Glu132Val) c.266A>T (p.Glu89Val) n.69+2142T>A | |
| 17 | g.8121956T>C | CA397988706 | HES7 | c.308A>G (p.Glu103Gly) c.293A>G (p.Glu98Gly) c.284A>G (p.Glu95Gly) c.413A>G (p.Glu138Gly) c.404A>G (p.Glu135Gly) c.395A>G (p.Glu132Gly) c.266A>G (p.Glu89Gly) n.69+2142T>C | |
| 17 | g.8121956T>G | CA397988708 | HES7 | c.308A>C (p.Glu103Ala) c.293A>C (p.Glu98Ala) c.284A>C (p.Glu95Ala) c.413A>C (p.Glu138Ala) c.404A>C (p.Glu135Ala) c.395A>C (p.Glu132Ala) c.266A>C (p.Glu89Ala) n.69+2142T>G | |
| 17 | g.8121957C>A | CA397988710 | HES7 | c.307G>T (p.Glu103Ter) c.292G>T (p.Glu98Ter) c.283G>T (p.Glu95Ter) c.412G>T (p.Glu138Ter) c.403G>T (p.Glu135Ter) c.394G>T (p.Glu132Ter) c.265G>T (p.Glu89Ter) n.69+2143C>A | gnomAD v4 |
| 17 | g.8121957C>G | CA397988713 | HES7 | c.307G>C (p.Glu103Gln) c.292G>C (p.Glu98Gln) c.283G>C (p.Glu95Gln) c.412G>C (p.Glu138Gln) c.403G>C (p.Glu135Gln) c.394G>C (p.Glu132Gln) c.265G>C (p.Glu89Gln) n.69+2143C>G | gnomAD v4 |
| 17 | g.8121957C>T | CA397988712 | HES7 | c.307G>A (p.Glu103Lys) c.292G>A (p.Glu98Lys) c.283G>A (p.Glu95Lys) c.412G>A (p.Glu138Lys) c.403G>A (p.Glu135Lys) c.394G>A (p.Glu132Lys) c.265G>A (p.Glu89Lys) n.69+2143C>T | gnomAD v4 COSMIC |
| 17 | g.8121958G>A | CA497955285 | HES7 | c.306C>T (p.Arg102=) c.291C>T (p.Arg97=) c.282C>T (p.Arg94=) c.411C>T (p.Arg137=) c.402C>T (p.Arg134=) c.393C>T (p.Arg131=) c.264C>T (p.Arg88=) n.69+2144G>A | |
| 17 | g.8121958G>C | CA497955286 | HES7 | c.306C>G (p.Arg102=) c.291C>G (p.Arg97=) c.282C>G (p.Arg94=) c.411C>G (p.Arg137=) c.402C>G (p.Arg134=) c.393C>G (p.Arg131=) c.264C>G (p.Arg88=) n.69+2144G>C | |
| 17 | g.8121958G= | CA2246160777 | HES7 | c.306C= (p.Arg102=) c.291C= (p.Arg97=) c.282C= (p.Arg94=) c.411C= (p.Arg137=) c.402C= (p.Arg134=) c.393C= (p.Arg131=) c.264C= (p.Arg88=) n.69+2144G= | |
| 17 | g.8121958G>T | CA8368665 | HES7 | c.306C>A (p.Arg102=) c.291C>A (p.Arg97=) c.282C>A (p.Arg94=) c.411C>A (p.Arg137=) c.402C>A (p.Arg134=) c.393C>A (p.Arg131=) c.264C>A (p.Arg88=) n.69+2144G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8121959C>A | CA397988718 | HES7 | c.305G>T (p.Arg102Leu) c.290G>T (p.Arg97Leu) c.281G>T (p.Arg94Leu) c.410G>T (p.Arg137Leu) c.401G>T (p.Arg134Leu) c.392G>T (p.Arg131Leu) c.263G>T (p.Arg88Leu) n.69+2145C>A | gnomAD v4 |
| 17 | g.8121959C= | CA2246160780 | HES7 | c.305G= (p.Arg102=) c.290G= (p.Arg97=) c.281G= (p.Arg94=) c.410G= (p.Arg137=) c.401G= (p.Arg134=) c.392G= (p.Arg131=) c.263G= (p.Arg88=) n.69+2145C= | |
| 17 | g.8121959C>G | CA397988720 | HES7 | c.305G>C (p.Arg102Pro) c.290G>C (p.Arg97Pro) c.281G>C (p.Arg94Pro) c.410G>C (p.Arg137Pro) c.401G>C (p.Arg134Pro) c.392G>C (p.Arg131Pro) c.263G>C (p.Arg88Pro) n.69+2145C>G | gnomAD v4 |
| 17 | g.8121959C>T | CA397988723 | HES7 | c.305G>A (p.Arg102His) c.290G>A (p.Arg97His) c.281G>A (p.Arg94His) c.410G>A (p.Arg137His) c.401G>A (p.Arg134His) c.392G>A (p.Arg131His) c.263G>A (p.Arg88His) n.69+2145C>T | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8121960G>A | CA397988726 | HES7 | c.304C>T (p.Arg102Cys) c.289C>T (p.Arg97Cys) c.280C>T (p.Arg94Cys) c.409C>T (p.Arg137Cys) c.400C>T (p.Arg134Cys) c.391C>T (p.Arg131Cys) c.262C>T (p.Arg88Cys) n.69+2146G>A | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.8121960G>C | CA397988735 | HES7 | c.304C>G (p.Arg102Gly) c.289C>G (p.Arg97Gly) c.280C>G (p.Arg94Gly) c.409C>G (p.Arg137Gly) c.400C>G (p.Arg134Gly) c.391C>G (p.Arg131Gly) c.262C>G (p.Arg88Gly) n.69+2146G>C | |
| 17 | g.8121960G= | CA2246160783 | HES7 | c.304C= (p.Arg102=) c.289C= (p.Arg97=) c.280C= (p.Arg94=) c.409C= (p.Arg137=) c.400C= (p.Arg134=) c.391C= (p.Arg131=) c.262C= (p.Arg88=) n.69+2146G= | |
| 17 | g.8121960G>T | CA397988733 | HES7 | c.304C>A (p.Arg102Ser) c.289C>A (p.Arg97Ser) c.280C>A (p.Arg94Ser) c.409C>A (p.Arg137Ser) c.400C>A (p.Arg134Ser) c.391C>A (p.Arg131Ser) c.262C>A (p.Arg88Ser) n.69+2146G>T | gnomAD v4 |
| 17 | g.8121961G>A | CA497955289 | HES7 | c.303C>T (p.Phe101=) c.288C>T (p.Phe96=) c.279C>T (p.Phe93=) c.408C>T (p.Phe136=) c.399C>T (p.Phe133=) c.390C>T (p.Phe130=) c.261C>T (p.Phe87=) n.69+2147G>A | gnomAD v4 |
| 17 | g.8121961G>C | CA397988737 | HES7 | c.303C>G (p.Phe101Leu) c.288C>G (p.Phe96Leu) c.279C>G (p.Phe93Leu) c.408C>G (p.Phe136Leu) c.399C>G (p.Phe133Leu) c.390C>G (p.Phe130Leu) c.261C>G (p.Phe87Leu) n.69+2147G>C | |
| 17 | g.8121961G>T | CA397988738 | HES7 | c.303C>A (p.Phe101Leu) c.288C>A (p.Phe96Leu) c.279C>A (p.Phe93Leu) c.408C>A (p.Phe136Leu) c.399C>A (p.Phe133Leu) c.390C>A (p.Phe130Leu) c.261C>A (p.Phe87Leu) n.69+2147G>T | |
| 17 | g.8121962A= | CA2246160787 | HES7 | c.302T= (p.Phe101=) c.287T= (p.Phe96=) c.278T= (p.Phe93=) c.407T= (p.Phe136=) c.398T= (p.Phe133=) c.389T= (p.Phe130=) c.260T= (p.Phe87=) n.69+2148A= | |
| 17 | g.8121962A>C | CA397988741 | HES7 | c.302T>G (p.Phe101Cys) c.287T>G (p.Phe96Cys) c.278T>G (p.Phe93Cys) c.407T>G (p.Phe136Cys) c.398T>G (p.Phe133Cys) c.389T>G (p.Phe130Cys) c.260T>G (p.Phe87Cys) n.69+2148A>C | |
| 17 | g.8121962A>G | CA397988742 | HES7 | c.302T>C (p.Phe101Ser) c.287T>C (p.Phe96Ser) c.278T>C (p.Phe93Ser) c.407T>C (p.Phe136Ser) c.398T>C (p.Phe133Ser) c.389T>C (p.Phe130Ser) c.260T>C (p.Phe87Ser) n.69+2148A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8121962A>T | CA397988744 | HES7 | c.302T>A (p.Phe101Tyr) c.287T>A (p.Phe96Tyr) c.278T>A (p.Phe93Tyr) c.407T>A (p.Phe136Tyr) c.398T>A (p.Phe133Tyr) c.389T>A (p.Phe130Tyr) c.260T>A (p.Phe87Tyr) n.69+2148A>T | |
| 17 | g.8121963A>C | CA397988747 | HES7 | c.301T>G (p.Phe101Val) c.286T>G (p.Phe96Val) c.277T>G (p.Phe93Val) c.406T>G (p.Phe136Val) c.397T>G (p.Phe133Val) c.388T>G (p.Phe130Val) c.259T>G (p.Phe87Val) n.69+2149A>C | |
| 17 | g.8121963A>G | CA397988750 | HES7 | c.301T>C (p.Phe101Leu) c.286T>C (p.Phe96Leu) c.277T>C (p.Phe93Leu) c.406T>C (p.Phe136Leu) c.397T>C (p.Phe133Leu) c.388T>C (p.Phe130Leu) c.259T>C (p.Phe87Leu) n.69+2149A>G | |
| 17 | g.8121963A>T | CA397988752 | HES7 | c.301T>A (p.Phe101Ile) c.286T>A (p.Phe96Ile) c.277T>A (p.Phe93Ile) c.406T>A (p.Phe136Ile) c.397T>A (p.Phe133Ile) c.388T>A (p.Phe130Ile) c.259T>A (p.Phe87Ile) n.69+2149A>T | |
| 17 | g.8121964A>C | CA497955299 | HES7 | c.300T>G (p.Gly100=) c.285T>G (p.Gly95=) c.276T>G (p.Gly92=) c.405T>G (p.Gly135=) c.396T>G (p.Gly132=) c.387T>G (p.Gly129=) c.258T>G (p.Gly86=) n.69+2150A>C | |
| 17 | g.8121964A>G | CA497955303 | HES7 | c.300T>C (p.Gly100=) c.285T>C (p.Gly95=) c.276T>C (p.Gly92=) c.405T>C (p.Gly135=) c.396T>C (p.Gly132=) c.387T>C (p.Gly129=) c.258T>C (p.Gly86=) n.69+2150A>G | |
| 17 | g.8121964A>T | CA497955300 | HES7 | c.300T>A (p.Gly100=) c.285T>A (p.Gly95=) c.276T>A (p.Gly92=) c.405T>A (p.Gly135=) c.396T>A (p.Gly132=) c.387T>A (p.Gly129=) c.258T>A (p.Gly86=) n.69+2150A>T | |
| 17 | g.8121964_8121965delinsAC | CA2246160790 | HES7 | c.299_300delinsGT (p.Gly100=) c.284_285delinsGT (p.Gly95=) c.275_276delinsGT (p.Gly92=) c.404_405delinsGT (p.Gly135=) c.395_396delinsGT (p.Gly132=) c.386_387delinsGT (p.Gly129=) c.257_258delinsGT (p.Gly86=) n.69+2150_69+2151delinsAC | |
| 17 | g.8121965C>A | CA397988754 | HES7 | c.299G>T (p.Gly100Val) c.284G>T (p.Gly95Val) c.275G>T (p.Gly92Val) c.404G>T (p.Gly135Val) c.395G>T (p.Gly132Val) c.386G>T (p.Gly129Val) c.257G>T (p.Gly86Val) n.69+2151C>A | |
| 17 | g.8121965C>G | CA397988756 | HES7 | c.299G>C (p.Gly100Ala) c.284G>C (p.Gly95Ala) c.275G>C (p.Gly92Ala) c.404G>C (p.Gly135Ala) c.395G>C (p.Gly132Ala) c.386G>C (p.Gly129Ala) c.257G>C (p.Gly86Ala) n.69+2151C>G | |
| 17 | g.8121965C>T | CA397988759 | HES7 | c.299G>A (p.Gly100Asp) c.284G>A (p.Gly95Asp) c.275G>A (p.Gly92Asp) c.404G>A (p.Gly135Asp) c.395G>A (p.Gly132Asp) c.386G>A (p.Gly129Asp) c.257G>A (p.Gly86Asp) n.69+2151C>T | gnomAD v4 |
| 17 | g.8121966del | CA624868619 | HES7 | c.299del (p.Gly100ValfsTer?) c.284del (p.Gly95ValfsTer?) c.275del (p.Gly92ValfsTer?) c.404del (p.Gly135ValfsTer?) c.395del (p.Gly132ValfsTer?) c.386del (p.Gly129ValfsTer?) c.257del (p.Gly86ValfsTer?) n.69+2152del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8121966C>A | CA397988764 | HES7 | c.298G>T (p.Gly100Cys) c.283G>T (p.Gly95Cys) c.274G>T (p.Gly92Cys) c.403G>T (p.Gly135Cys) c.394G>T (p.Gly132Cys) c.385G>T (p.Gly129Cys) c.256G>T (p.Gly86Cys) n.69+2152C>A | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.8121966C= | CA2246160793 | HES7 | c.298G= (p.Gly100=) c.283G= (p.Gly95=) c.274G= (p.Gly92=) c.403G= (p.Gly135=) c.394G= (p.Gly132=) c.385G= (p.Gly129=) c.256G= (p.Gly86=) n.69+2152C= | |
| 17 | g.8121966C>G | CA397988767 | HES7 | c.298G>C (p.Gly100Arg) c.283G>C (p.Gly95Arg) c.274G>C (p.Gly92Arg) c.403G>C (p.Gly135Arg) c.394G>C (p.Gly132Arg) c.385G>C (p.Gly129Arg) c.256G>C (p.Gly86Arg) n.69+2152C>G | |
| 17 | g.8121966C>T | CA397988763 | HES7 | c.298G>A (p.Gly100Ser) c.283G>A (p.Gly95Ser) c.274G>A (p.Gly92Ser) c.403G>A (p.Gly135Ser) c.394G>A (p.Gly132Ser) c.385G>A (p.Gly129Ser) c.256G>A (p.Gly86Ser) n.69+2152C>T | gnomAD v4 COSMIC |
| 17 | g.8121967G>A | CA497955308 | HES7 | c.297C>T (p.Ser99=) c.282C>T (p.Ser94=) c.273C>T (p.Ser91=) c.402C>T (p.Ser134=) c.393C>T (p.Ser131=) c.384C>T (p.Ser128=) c.255C>T (p.Ser85=) n.69+2153G>A | dbSNP gnomAD v4 |
| 17 | g.8121967G>C | CA287537334 | HES7 | c.297C>G (p.Ser99=) c.282C>G (p.Ser94=) c.273C>G (p.Ser91=) c.402C>G (p.Ser134=) c.393C>G (p.Ser131=) c.384C>G (p.Ser128=) c.255C>G (p.Ser85=) n.69+2153G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8121967G= | CA2246160796 | HES7 | c.297C= (p.Ser99=) c.282C= (p.Ser94=) c.273C= (p.Ser91=) c.402C= (p.Ser134=) c.393C= (p.Ser131=) c.384C= (p.Ser128=) c.255C= (p.Ser85=) n.69+2153G= | |
| 17 | g.8121967G>T | CA497955311 | HES7 | c.297C>A (p.Ser99=) c.282C>A (p.Ser94=) c.273C>A (p.Ser91=) c.402C>A (p.Ser134=) c.393C>A (p.Ser131=) c.384C>A (p.Ser128=) c.255C>A (p.Ser85=) n.69+2153G>T | |
| 17 | g.8121968G>A | CA8368666 | HES7 | c.296C>T (p.Ser99Phe) c.281C>T (p.Ser94Phe) c.272C>T (p.Ser91Phe) c.401C>T (p.Ser134Phe) c.392C>T (p.Ser131Phe) c.383C>T (p.Ser128Phe) c.254C>T (p.Ser85Phe) n.69+2154G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8121968G>C | CA397988775 | HES7 | c.296C>G (p.Ser99Cys) c.281C>G (p.Ser94Cys) c.272C>G (p.Ser91Cys) c.401C>G (p.Ser134Cys) c.392C>G (p.Ser131Cys) c.383C>G (p.Ser128Cys) c.254C>G (p.Ser85Cys) n.69+2154G>C | |
| 17 | g.8121968G= | CA2246160801 | HES7 | c.296C= (p.Ser99=) c.281C= (p.Ser94=) c.272C= (p.Ser91=) c.401C= (p.Ser134=) c.392C= (p.Ser131=) c.383C= (p.Ser128=) c.254C= (p.Ser85=) n.69+2154G= | |
| 17 | g.8121968G>T | CA397988773 | HES7 | c.296C>A (p.Ser99Tyr) c.281C>A (p.Ser94Tyr) c.272C>A (p.Ser91Tyr) c.401C>A (p.Ser134Tyr) c.392C>A (p.Ser131Tyr) c.383C>A (p.Ser128Tyr) c.254C>A (p.Ser85Tyr) n.69+2154G>T | gnomAD v4 |
| 17 | g.8121969A>C | CA397988777 | HES7 | c.295T>G (p.Ser99Ala) c.280T>G (p.Ser94Ala) c.271T>G (p.Ser91Ala) c.400T>G (p.Ser134Ala) c.391T>G (p.Ser131Ala) c.382T>G (p.Ser128Ala) c.253T>G (p.Ser85Ala) n.69+2155A>C | |
| 17 | g.8121969A>G | CA397988780 | HES7 | c.295T>C (p.Ser99Pro) c.280T>C (p.Ser94Pro) c.271T>C (p.Ser91Pro) c.400T>C (p.Ser134Pro) c.391T>C (p.Ser131Pro) c.382T>C (p.Ser128Pro) c.253T>C (p.Ser85Pro) n.69+2155A>G | gnomAD v4 |
| 17 | g.8121969A>T | CA397988783 | HES7 | c.295T>A (p.Ser99Thr) c.280T>A (p.Ser94Thr) c.271T>A (p.Ser91Thr) c.400T>A (p.Ser134Thr) c.391T>A (p.Ser131Thr) c.382T>A (p.Ser128Thr) c.253T>A (p.Ser85Thr) n.69+2155A>T | |
| 17 | g.8121970C>A | CA397988786 | HES7 | c.294G>T (p.Leu98Phe) c.279G>T (p.Leu93Phe) c.270G>T (p.Leu90Phe) c.399G>T (p.Leu133Phe) c.390G>T (p.Leu130Phe) c.381G>T (p.Leu127Phe) c.252G>T (p.Leu84Phe) n.69+2156C>A | gnomAD v4 |
| 17 | g.8121970C= | CA2246160804 | HES7 | c.294G= (p.Leu98=) c.279G= (p.Leu93=) c.270G= (p.Leu90=) c.399G= (p.Leu133=) c.390G= (p.Leu130=) c.381G= (p.Leu127=) c.252G= (p.Leu84=) n.69+2156C= | |
| 17 | g.8121970C>G | CA397988789 | HES7 | c.294G>C (p.Leu98Phe) c.279G>C (p.Leu93Phe) c.270G>C (p.Leu90Phe) c.399G>C (p.Leu133Phe) c.390G>C (p.Leu130Phe) c.381G>C (p.Leu127Phe) c.252G>C (p.Leu84Phe) n.69+2156C>G | |
| 17 | g.8121970C>T | CA497955321 | HES7 | c.294G>A (p.Leu98=) c.279G>A (p.Leu93=) c.270G>A (p.Leu90=) c.399G>A (p.Leu133=) c.390G>A (p.Leu130=) c.381G>A (p.Leu127=) c.252G>A (p.Leu84=) n.69+2156C>T | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.8121971A= | CA2246160807 | HES7 | c.293T= (p.Leu98=) c.278T= (p.Leu93=) c.269T= (p.Leu90=) c.398T= (p.Leu133=) c.389T= (p.Leu130=) c.380T= (p.Leu127=) c.251T= (p.Leu84=) n.69+2157A= | |
| 17 | g.8121971A>C | CA397988793 | HES7 | c.293T>G (p.Leu98Trp) c.278T>G (p.Leu93Trp) c.269T>G (p.Leu90Trp) c.398T>G (p.Leu133Trp) c.389T>G (p.Leu130Trp) c.380T>G (p.Leu127Trp) c.251T>G (p.Leu84Trp) n.69+2157A>C | |
| 17 | g.8121971A>G | CA8368667 | HES7 | c.293T>C (p.Leu98Ser) c.278T>C (p.Leu93Ser) c.269T>C (p.Leu90Ser) c.398T>C (p.Leu133Ser) c.389T>C (p.Leu130Ser) c.380T>C (p.Leu127Ser) c.251T>C (p.Leu84Ser) n.69+2157A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.8121971A>T | CA397988797 | HES7 | c.293T>A (p.Leu98Ter) c.278T>A (p.Leu93Ter) c.269T>A (p.Leu90Ter) c.398T>A (p.Leu133Ter) c.389T>A (p.Leu130Ter) c.380T>A (p.Leu127Ter) c.251T>A (p.Leu84Ter) n.69+2157A>T | |
| 17 | g.8121972del | CA2635938457 | HES7 | c.293del (p.Leu98CysfsTer?) c.278del (p.Leu93CysfsTer?) c.269del (p.Leu90CysfsTer?) c.398del (p.Leu133CysfsTer?) c.389del (p.Leu130CysfsTer?) c.380del (p.Leu127CysfsTer?) c.251del (p.Leu84CysfsTer?) n.69+2158del | gnomAD v4 |
| 17 | g.8121972A>C | CA397988800 | HES7 | c.292T>G (p.Leu98Val) c.277T>G (p.Leu93Val) c.268T>G (p.Leu90Val) c.397T>G (p.Leu133Val) c.388T>G (p.Leu130Val) c.379T>G (p.Leu127Val) c.250T>G (p.Leu84Val) n.69+2158A>C | |
| 17 | g.8121972A>G | CA497955322 | HES7 | c.292T>C (p.Leu98=) c.277T>C (p.Leu93=) c.268T>C (p.Leu90=) c.397T>C (p.Leu133=) c.388T>C (p.Leu130=) c.379T>C (p.Leu127=) c.250T>C (p.Leu84=) n.69+2158A>G | gnomAD v4 |
| 17 | g.8121972A>T | CA397988802 | HES7 | c.292T>A (p.Leu98Met) c.277T>A (p.Leu93Met) c.268T>A (p.Leu90Met) c.397T>A (p.Leu133Met) c.388T>A (p.Leu130Met) c.379T>A (p.Leu127Met) c.250T>A (p.Leu84Met) n.69+2158A>T | |
| 17 | g.8121973G>A | CA497955326 | HES7 | c.291C>T (p.Tyr97=) c.276C>T (p.Tyr92=) c.267C>T (p.Tyr89=) c.396C>T (p.Tyr132=) c.387C>T (p.Tyr129=) c.378C>T (p.Tyr126=) c.249C>T (p.Tyr83=) n.69+2159G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8121973G>C | CA397988805 | HES7 | c.291C>G (p.Tyr97Ter) c.276C>G (p.Tyr92Ter) c.267C>G (p.Tyr89Ter) c.396C>G (p.Tyr132Ter) c.387C>G (p.Tyr129Ter) c.378C>G (p.Tyr126Ter) c.249C>G (p.Tyr83Ter) n.69+2159G>C | |
| 17 | g.8121973G= | CA2246160815 | HES7 | c.291C= (p.Tyr97=) c.276C= (p.Tyr92=) c.267C= (p.Tyr89=) c.396C= (p.Tyr132=) c.387C= (p.Tyr129=) c.378C= (p.Tyr126=) c.249C= (p.Tyr83=) n.69+2159G= | |
| 17 | g.8121973G>T | CA397988808 | HES7 | c.291C>A (p.Tyr97Ter) c.276C>A (p.Tyr92Ter) c.267C>A (p.Tyr89Ter) c.396C>A (p.Tyr132Ter) c.387C>A (p.Tyr129Ter) c.378C>A (p.Tyr126Ter) c.249C>A (p.Tyr83Ter) n.69+2159G>T | |
| 17 | g.8121974T>A | CA397988818 | HES7 | c.290A>T (p.Tyr97Phe) c.275A>T (p.Tyr92Phe) c.266A>T (p.Tyr89Phe) c.395A>T (p.Tyr132Phe) c.386A>T (p.Tyr129Phe) c.377A>T (p.Tyr126Phe) c.248A>T (p.Tyr83Phe) n.69+2160T>A | |
| 17 | g.8121974T>C | CA397988811 | HES7 | c.290A>G (p.Tyr97Cys) c.275A>G (p.Tyr92Cys) c.266A>G (p.Tyr89Cys) c.395A>G (p.Tyr132Cys) c.386A>G (p.Tyr129Cys) c.377A>G (p.Tyr126Cys) c.248A>G (p.Tyr83Cys) n.69+2160T>C | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.8121974T>G | CA397988815 | HES7 | c.290A>C (p.Tyr97Ser) c.275A>C (p.Tyr92Ser) c.266A>C (p.Tyr89Ser) c.395A>C (p.Tyr132Ser) c.386A>C (p.Tyr129Ser) c.377A>C (p.Tyr126Ser) c.248A>C (p.Tyr83Ser) n.69+2160T>G | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8121974T= | CA2246160820 | HES7 | c.290A= (p.Tyr97=) c.275A= (p.Tyr92=) c.266A= (p.Tyr89=) c.395A= (p.Tyr132=) c.386A= (p.Tyr129=) c.377A= (p.Tyr126=) c.248A= (p.Tyr83=) n.69+2160T= | |
| 17 | g.8121975A>C | CA397988819 | HES7 | c.289T>G (p.Tyr97Asp) c.274T>G (p.Tyr92Asp) c.265T>G (p.Tyr89Asp) c.394T>G (p.Tyr132Asp) c.385T>G (p.Tyr129Asp) c.376T>G (p.Tyr126Asp) c.247T>G (p.Tyr83Asp) n.69+2161A>C | |
| 17 | g.8121975A>G | CA397988821 | HES7 | c.289T>C (p.Tyr97His) c.274T>C (p.Tyr92His) c.265T>C (p.Tyr89His) c.394T>C (p.Tyr132His) c.385T>C (p.Tyr129His) c.376T>C (p.Tyr126His) c.247T>C (p.Tyr83His) n.69+2161A>G | gnomAD v4 |
| 17 | g.8121975A>T | CA397988823 | HES7 | c.289T>A (p.Tyr97Asn) c.274T>A (p.Tyr92Asn) c.265T>A (p.Tyr89Asn) c.394T>A (p.Tyr132Asn) c.385T>A (p.Tyr129Asn) c.376T>A (p.Tyr126Asn) c.247T>A (p.Tyr83Asn) n.69+2161A>T | |
| 17 | g.8121976G>A | CA497955332 | HES7 | c.288C>T (p.Cys96=) c.273C>T (p.Cys91=) c.264C>T (p.Cys88=) c.393C>T (p.Cys131=) c.384C>T (p.Cys128=) c.375C>T (p.Cys125=) c.246C>T (p.Cys82=) n.69+2162G>A | |
| 17 | g.8121976G>C | CA397988826 | HES7 | c.288C>G (p.Cys96Trp) c.273C>G (p.Cys91Trp) c.264C>G (p.Cys88Trp) c.393C>G (p.Cys131Trp) c.384C>G (p.Cys128Trp) c.375C>G (p.Cys125Trp) c.246C>G (p.Cys82Trp) n.69+2162G>C | gnomAD v4 |
| 17 | g.8121976G>T | CA397988827 | HES7 | c.288C>A (p.Cys96Ter) c.273C>A (p.Cys91Ter) c.264C>A (p.Cys88Ter) c.393C>A (p.Cys131Ter) c.384C>A (p.Cys128Ter) c.375C>A (p.Cys125Ter) c.246C>A (p.Cys82Ter) n.69+2162G>T | gnomAD v4 |
| 17 | g.8121977C>A | CA287537340 | HES7 | c.287G>T (p.Cys96Phe) c.272G>T (p.Cys91Phe) c.263G>T (p.Cys88Phe) c.392G>T (p.Cys131Phe) c.383G>T (p.Cys128Phe) c.374G>T (p.Cys125Phe) c.245G>T (p.Cys82Phe) n.69+2163C>A | dbSNP |
| 17 | g.8121977C= | CA2246160825 | HES7 | c.287G= (p.Cys96=) c.272G= (p.Cys91=) c.263G= (p.Cys88=) c.392G= (p.Cys131=) c.383G= (p.Cys128=) c.374G= (p.Cys125=) c.245G= (p.Cys82=) n.69+2163C= | |
| 17 | g.8121977C>G | CA397988828 | HES7 | c.287G>C (p.Cys96Ser) c.272G>C (p.Cys91Ser) c.263G>C (p.Cys88Ser) c.392G>C (p.Cys131Ser) c.383G>C (p.Cys128Ser) c.374G>C (p.Cys125Ser) c.245G>C (p.Cys82Ser) n.69+2163C>G | |
| 17 | g.8121977C>T | CA397988829 | HES7 | c.287G>A (p.Cys96Tyr) c.272G>A (p.Cys91Tyr) c.263G>A (p.Cys88Tyr) c.392G>A (p.Cys131Tyr) c.383G>A (p.Cys128Tyr) c.374G>A (p.Cys125Tyr) c.245G>A (p.Cys82Tyr) n.69+2163C>T | gnomAD v4 |
| 17 | g.8121978A= | CA2246160831 | HES7 | c.286T= (p.Cys96=) c.271T= (p.Cys91=) c.262T= (p.Cys88=) c.391T= (p.Cys131=) c.382T= (p.Cys128=) c.373T= (p.Cys125=) c.244T= (p.Cys82=) n.69+2164A= | |
| 17 | g.8121978A>C | CA8368668 | HES7 | c.286T>G (p.Cys96Gly) c.271T>G (p.Cys91Gly) c.262T>G (p.Cys88Gly) c.391T>G (p.Cys131Gly) c.382T>G (p.Cys128Gly) c.373T>G (p.Cys125Gly) c.244T>G (p.Cys82Gly) n.69+2164A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.8121978A>G | CA397988830 | HES7 | c.286T>C (p.Cys96Arg) c.271T>C (p.Cys91Arg) c.262T>C (p.Cys88Arg) c.391T>C (p.Cys131Arg) c.382T>C (p.Cys128Arg) c.373T>C (p.Cys125Arg) c.244T>C (p.Cys82Arg) n.69+2164A>G | gnomAD v4 |
| 17 | g.8121978A>T | CA8368669 | HES7 | c.286T>A (p.Cys96Ser) c.271T>A (p.Cys91Ser) c.262T>A (p.Cys88Ser) c.391T>A (p.Cys131Ser) c.382T>A (p.Cys128Ser) c.373T>A (p.Cys125Ser) c.244T>A (p.Cys82Ser) n.69+2164A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8121979G>A | CA497955339 | HES7 | c.285C>T (p.Ser95=) c.270C>T (p.Ser90=) c.261C>T (p.Ser87=) c.390C>T (p.Ser130=) c.381C>T (p.Ser127=) c.372C>T (p.Ser124=) c.243C>T (p.Ser81=) n.69+2165G>A | gnomAD v4 |
| 17 | g.8121979G>C | CA397988834 | HES7 | c.285C>G (p.Ser95Arg) c.270C>G (p.Ser90Arg) c.261C>G (p.Ser87Arg) c.390C>G (p.Ser130Arg) c.381C>G (p.Ser127Arg) c.372C>G (p.Ser124Arg) c.243C>G (p.Ser81Arg) n.69+2165G>C | |
| 17 | g.8121979G>T | CA397988837 | HES7 | c.285C>A (p.Ser95Arg) c.270C>A (p.Ser90Arg) c.261C>A (p.Ser87Arg) c.390C>A (p.Ser130Arg) c.381C>A (p.Ser127Arg) c.372C>A (p.Ser124Arg) c.243C>A (p.Ser81Arg) n.69+2165G>T | |
| 17 | g.8121980C>A | CA397988840 | HES7 | c.284G>T (p.Ser95Ile) c.269G>T (p.Ser90Ile) c.260G>T (p.Ser87Ile) c.389G>T (p.Ser130Ile) c.380G>T (p.Ser127Ile) c.371G>T (p.Ser124Ile) c.242G>T (p.Ser81Ile) n.69+2166C>A | gnomAD v4 COSMIC |
| 17 | g.8121980C>G | CA397988841 | HES7 | c.284G>C (p.Ser95Thr) c.269G>C (p.Ser90Thr) c.260G>C (p.Ser87Thr) c.389G>C (p.Ser130Thr) c.380G>C (p.Ser127Thr) c.371G>C (p.Ser124Thr) c.242G>C (p.Ser81Thr) n.69+2166C>G | |
| 17 | g.8121980C>T | CA397988845 | HES7 | c.284G>A (p.Ser95Asn) c.269G>A (p.Ser90Asn) c.260G>A (p.Ser87Asn) c.389G>A (p.Ser130Asn) c.380G>A (p.Ser127Asn) c.371G>A (p.Ser124Asn) c.242G>A (p.Ser81Asn) n.69+2166C>T | gnomAD v4 |
| 17 | g.8121981T>A | CA397988848 | HES7 | c.283A>T (p.Ser95Cys) c.268A>T (p.Ser90Cys) c.259A>T (p.Ser87Cys) c.388A>T (p.Ser130Cys) c.379A>T (p.Ser127Cys) c.370A>T (p.Ser124Cys) c.241A>T (p.Ser81Cys) n.69+2167T>A | |
| 17 | g.8121981T>C | CA397988851 | HES7 | c.283A>G (p.Ser95Gly) c.268A>G (p.Ser90Gly) c.259A>G (p.Ser87Gly) c.388A>G (p.Ser130Gly) c.379A>G (p.Ser127Gly) c.370A>G (p.Ser124Gly) c.241A>G (p.Ser81Gly) n.69+2167T>C | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8121981T>G | CA397988853 | HES7 | c.283A>C (p.Ser95Arg) c.268A>C (p.Ser90Arg) c.259A>C (p.Ser87Arg) c.388A>C (p.Ser130Arg) c.379A>C (p.Ser127Arg) c.370A>C (p.Ser124Arg) c.241A>C (p.Ser81Arg) n.69+2167T>G | |
| 17 | g.8121981T= | CA2246160835 | HES7 | c.283A= (p.Ser95=) c.268A= (p.Ser90=) c.259A= (p.Ser87=) c.388A= (p.Ser130=) c.379A= (p.Ser127=) c.370A= (p.Ser124=) c.241A= (p.Ser81=) n.69+2167T= | |
| 17 | g.8121982G>A | CA497955346 | HES7 | c.282C>T (p.Ala94=) c.267C>T (p.Ala89=) c.258C>T (p.Ala86=) c.387C>T (p.Ala129=) c.378C>T (p.Ala126=) c.369C>T (p.Ala123=) c.240C>T (p.Ala80=) n.69+2168G>A | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.8121982G>C | CA497955347 | HES7 | c.282C>G (p.Ala94=) c.267C>G (p.Ala89=) c.258C>G (p.Ala86=) c.387C>G (p.Ala129=) c.378C>G (p.Ala126=) c.369C>G (p.Ala123=) c.240C>G (p.Ala80=) n.69+2168G>C | |
| 17 | g.8121982G= | CA2246160844 | HES7 | c.282C= (p.Ala94=) c.267C= (p.Ala89=) c.258C= (p.Ala86=) c.387C= (p.Ala129=) c.378C= (p.Ala126=) c.369C= (p.Ala123=) c.240C= (p.Ala80=) n.69+2168G= | |
| 17 | g.8121982G>T | CA497955348 | HES7 | c.282C>A (p.Ala94=) c.267C>A (p.Ala89=) c.258C>A (p.Ala86=) c.387C>A (p.Ala129=) c.378C>A (p.Ala126=) c.369C>A (p.Ala123=) c.240C>A (p.Ala80=) n.69+2168G>T | |
| 17 | g.8121983G>A | CA397988855 | HES7 | c.281C>T (p.Ala94Val) c.266C>T (p.Ala89Val) c.257C>T (p.Ala86Val) c.386C>T (p.Ala129Val) c.377C>T (p.Ala126Val) c.368C>T (p.Ala123Val) c.239C>T (p.Ala80Val) n.69+2169G>A | |
| 17 | g.8121983G>C | CA397988856 | HES7 | c.281C>G (p.Ala94Gly) c.266C>G (p.Ala89Gly) c.257C>G (p.Ala86Gly) c.386C>G (p.Ala129Gly) c.377C>G (p.Ala126Gly) c.368C>G (p.Ala123Gly) c.239C>G (p.Ala80Gly) n.69+2169G>C | gnomAD v4 |
| 17 | g.8121983G>T | CA397988857 | HES7 | c.281C>A (p.Ala94Asp) c.266C>A (p.Ala89Asp) c.257C>A (p.Ala86Asp) c.386C>A (p.Ala129Asp) c.377C>A (p.Ala126Asp) c.368C>A (p.Ala123Asp) c.239C>A (p.Ala80Asp) n.69+2169G>T | |
| 17 | g.8121984C>A | CA397988858 | HES7 | c.280G>T (p.Ala94Ser) c.265G>T (p.Ala89Ser) c.256G>T (p.Ala86Ser) c.385G>T (p.Ala129Ser) c.376G>T (p.Ala126Ser) c.367G>T (p.Ala123Ser) c.238G>T (p.Ala80Ser) n.69+2170C>A | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.8121984C= | CA2246160848 | HES7 | c.280G= (p.Ala94=) c.265G= (p.Ala89=) c.256G= (p.Ala86=) c.385G= (p.Ala129=) c.376G= (p.Ala126=) c.367G= (p.Ala123=) c.238G= (p.Ala80=) n.69+2170C= | |
| 17 | g.8121984C>G | CA397988860 | HES7 | c.280G>C (p.Ala94Pro) c.265G>C (p.Ala89Pro) c.256G>C (p.Ala86Pro) c.385G>C (p.Ala129Pro) c.376G>C (p.Ala126Pro) c.367G>C (p.Ala123Pro) c.238G>C (p.Ala80Pro) n.69+2170C>G | |
| 17 | g.8121984C>T | CA397988862 | HES7 | c.280G>A (p.Ala94Thr) c.265G>A (p.Ala89Thr) c.256G>A (p.Ala86Thr) c.385G>A (p.Ala129Thr) c.376G>A (p.Ala126Thr) c.367G>A (p.Ala123Thr) c.238G>A (p.Ala80Thr) n.69+2170C>T | dbSNP gnomAD v4 |
| 17 | g.8121985G>A | CA497955355 | HES7 | c.279C>T (p.Leu93=) c.264C>T (p.Leu88=) c.255C>T (p.Leu85=) c.384C>T (p.Leu128=) c.375C>T (p.Leu125=) c.366C>T (p.Leu122=) c.237C>T (p.Leu79=) n.69+2171G>A | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8121985G>C | CA497955359 | HES7 | c.279C>G (p.Leu93=) c.264C>G (p.Leu88=) c.255C>G (p.Leu85=) c.384C>G (p.Leu128=) c.375C>G (p.Leu125=) c.366C>G (p.Leu122=) c.237C>G (p.Leu79=) n.69+2171G>C | |
| 17 | g.8121985G= | CA2246160851 | HES7 | c.279C= (p.Leu93=) c.264C= (p.Leu88=) c.255C= (p.Leu85=) c.384C= (p.Leu128=) c.375C= (p.Leu125=) c.366C= (p.Leu122=) c.237C= (p.Leu79=) n.69+2171G= | |
| 17 | g.8121985G>T | CA497955360 | HES7 | c.279C>A (p.Leu93=) c.264C>A (p.Leu88=) c.255C>A (p.Leu85=) c.384C>A (p.Leu128=) c.375C>A (p.Leu125=) c.366C>A (p.Leu122=) c.237C>A (p.Leu79=) n.69+2171G>T | gnomAD v4 |
| 17 | g.8121986A>C | CA397988869 | HES7 | c.278T>G (p.Leu93Arg) c.263T>G (p.Leu88Arg) c.254T>G (p.Leu85Arg) c.383T>G (p.Leu128Arg) c.374T>G (p.Leu125Arg) c.365T>G (p.Leu122Arg) c.236T>G (p.Leu79Arg) n.69+2172A>C | |
| 17 | g.8121986A>G | CA397988864 | HES7 | c.278T>C (p.Leu93Pro) c.263T>C (p.Leu88Pro) c.254T>C (p.Leu85Pro) c.383T>C (p.Leu128Pro) c.374T>C (p.Leu125Pro) c.365T>C (p.Leu122Pro) c.236T>C (p.Leu79Pro) n.69+2172A>G | |
| 17 | g.8121986A>T | CA397988866 | HES7 | c.278T>A (p.Leu93His) c.263T>A (p.Leu88His) c.254T>A (p.Leu85His) c.383T>A (p.Leu128His) c.374T>A (p.Leu125His) c.365T>A (p.Leu122His) c.236T>A (p.Leu79His) n.69+2172A>T | |
| 17 | g.8121987G>A | CA397988872 | HES7 | c.277C>T (p.Leu93Phe) c.262C>T (p.Leu88Phe) c.253C>T (p.Leu85Phe) c.382C>T (p.Leu128Phe) c.373C>T (p.Leu125Phe) c.364C>T (p.Leu122Phe) c.235C>T (p.Leu79Phe) n.69+2173G>A | gnomAD v4 |
| 17 | g.8121987G>C | CA397988873 | HES7 | c.277C>G (p.Leu93Val) c.262C>G (p.Leu88Val) c.253C>G (p.Leu85Val) c.382C>G (p.Leu128Val) c.373C>G (p.Leu125Val) c.364C>G (p.Leu122Val) c.235C>G (p.Leu79Val) n.69+2173G>C | |
| 17 | g.8121987G>T | CA397988876 | HES7 | c.277C>A (p.Leu93Ile) c.262C>A (p.Leu88Ile) c.253C>A (p.Leu85Ile) c.382C>A (p.Leu128Ile) c.373C>A (p.Leu125Ile) c.364C>A (p.Leu122Ile) c.235C>A (p.Leu79Ile) n.69+2173G>T | gnomAD v4 |
| 17 | g.8121988C>A | CA497955367 | HES7 | c.276G>T (p.Ala92=) c.261G>T (p.Ala87=) c.252G>T (p.Ala84=) c.381G>T (p.Ala127=) c.372G>T (p.Ala124=) c.363G>T (p.Ala121=) c.234G>T (p.Ala78=) n.69+2174C>A | ClinVar dbSNP gnomAD v4 |
| 17 | g.8121988C>G | CA497955368 | HES7 | c.276G>C (p.Ala92=) c.261G>C (p.Ala87=) c.252G>C (p.Ala84=) c.381G>C (p.Ala127=) c.372G>C (p.Ala124=) c.363G>C (p.Ala121=) c.234G>C (p.Ala78=) n.69+2174C>G | gnomAD v4 |
| 17 | g.8121988C>T | CA497955369 | HES7 | c.276G>A (p.Ala92=) c.261G>A (p.Ala87=) c.252G>A (p.Ala84=) c.381G>A (p.Ala127=) c.372G>A (p.Ala124=) c.363G>A (p.Ala121=) c.234G>A (p.Ala78=) n.69+2174C>T | gnomAD v4 |
| 17 | g.8121989G>A | CA397988880 | HES7 | c.275C>T (p.Ala92Val) c.260C>T (p.Ala87Val) c.251C>T (p.Ala84Val) c.380C>T (p.Ala127Val) c.371C>T (p.Ala124Val) c.362C>T (p.Ala121Val) c.233C>T (p.Ala78Val) n.69+2175G>A | gnomAD v4 |
| 17 | g.8121989G>C | CA397988883 | HES7 | c.275C>G (p.Ala92Gly) c.260C>G (p.Ala87Gly) c.251C>G (p.Ala84Gly) c.380C>G (p.Ala127Gly) c.371C>G (p.Ala124Gly) c.362C>G (p.Ala121Gly) c.233C>G (p.Ala78Gly) n.69+2175G>C | |
| 17 | g.8121989G>T | CA397988885 | HES7 | c.275C>A (p.Ala92Glu) c.260C>A (p.Ala87Glu) c.251C>A (p.Ala84Glu) c.380C>A (p.Ala127Glu) c.371C>A (p.Ala124Glu) c.362C>A (p.Ala121Glu) c.233C>A (p.Ala78Glu) n.69+2175G>T | gnomAD v4 |
| 17 | g.8121989_8121990delinsGC | CA2246160855 | HES7 | c.274_275delinsGC (p.Ala92=) c.259_260delinsGC (p.Ala87=) c.250_251delinsGC (p.Ala84=) c.379_380delinsGC (p.Ala127=) c.370_371delinsGC (p.Ala124=) c.361_362delinsGC (p.Ala121=) c.232_233delinsGC (p.Ala78=) n.69+2175_69+2176delinsGC | |
| 17 | g.8121990C>A | CA397988889 | HES7 | c.274G>T (p.Ala92Ser) c.259G>T (p.Ala87Ser) c.250G>T (p.Ala84Ser) c.379G>T (p.Ala127Ser) c.370G>T (p.Ala124Ser) c.361G>T (p.Ala121Ser) c.232G>T (p.Ala78Ser) n.69+2176C>A | |
| 17 | g.8121990C= | CA2246160860 | HES7 | c.274G= (p.Ala92=) c.259G= (p.Ala87=) c.250G= (p.Ala84=) c.379G= (p.Ala127=) c.370G= (p.Ala124=) c.361G= (p.Ala121=) c.232G= (p.Ala78=) n.69+2176C= | |
| 17 | g.8121990C>G | CA397988891 | HES7 | c.274G>C (p.Ala92Pro) c.259G>C (p.Ala87Pro) c.250G>C (p.Ala84Pro) c.379G>C (p.Ala127Pro) c.370G>C (p.Ala124Pro) c.361G>C (p.Ala121Pro) c.232G>C (p.Ala78Pro) n.69+2176C>G | |
| 17 | g.8121990C>T | CA397988893 | HES7 | c.274G>A (p.Ala92Thr) c.259G>A (p.Ala87Thr) c.250G>A (p.Ala84Thr) c.379G>A (p.Ala127Thr) c.370G>A (p.Ala124Thr) c.361G>A (p.Ala121Thr) c.232G>A (p.Ala78Thr) n.69+2176C>T | dbSNP gnomAD v4 |
| 17 | g.8121991del | CA2246160861 | HES7 | c.274del (p.Ala92ArgfsTer?) c.259del (p.Ala87ArgfsTer?) c.250del (p.Ala84ArgfsTer?) c.379del (p.Ala127ArgfsTer?) c.370del (p.Ala124ArgfsTer?) c.361del (p.Ala121ArgfsTer?) c.232del (p.Ala78ArgfsTer?) n.69+2177del | dbSNP |
| 17 | g.8121991C>A | CA397988896 | HES7 | c.273G>T (p.Glu91Asp) c.258G>T (p.Glu86Asp) c.249G>T (p.Glu83Asp) c.378G>T (p.Glu126Asp) c.369G>T (p.Glu123Asp) c.360G>T (p.Glu120Asp) c.231G>T (p.Glu77Asp) n.69+2177C>A | gnomAD v4 |
| 17 | g.8121991C>G | CA397988899 | HES7 | c.273G>C (p.Glu91Asp) c.258G>C (p.Glu86Asp) c.249G>C (p.Glu83Asp) c.378G>C (p.Glu126Asp) c.369G>C (p.Glu123Asp) c.360G>C (p.Glu120Asp) c.231G>C (p.Glu77Asp) n.69+2177C>G | |
| 17 | g.8121991C>T | CA497955377 | HES7 | c.273G>A (p.Glu91=) c.258G>A (p.Glu86=) c.249G>A (p.Glu83=) c.378G>A (p.Glu126=) c.369G>A (p.Glu123=) c.360G>A (p.Glu120=) c.231G>A (p.Glu77=) n.69+2177C>T | gnomAD v4 |
| 17 | g.8121992T>A | CA397988906 | HES7 | c.272A>T (p.Glu91Val) c.257A>T (p.Glu86Val) c.248A>T (p.Glu83Val) c.377A>T (p.Glu126Val) c.368A>T (p.Glu123Val) c.359A>T (p.Glu120Val) c.230A>T (p.Glu77Val) n.69+2178T>A | |
| 17 | g.8121992T>C | CA397988904 | HES7 | c.272A>G (p.Glu91Gly) c.257A>G (p.Glu86Gly) c.248A>G (p.Glu83Gly) c.377A>G (p.Glu126Gly) c.368A>G (p.Glu123Gly) c.359A>G (p.Glu120Gly) c.230A>G (p.Glu77Gly) n.69+2178T>C | gnomAD v4 |
| 17 | g.8121992T>G | CA397988902 | HES7 | c.272A>C (p.Glu91Ala) c.257A>C (p.Glu86Ala) c.248A>C (p.Glu83Ala) c.377A>C (p.Glu126Ala) c.368A>C (p.Glu123Ala) c.359A>C (p.Glu120Ala) c.230A>C (p.Glu77Ala) n.69+2178T>G | |
| 17 | g.8121993C>A | CA397988908 | HES7 | c.271G>T (p.Glu91Ter) c.256G>T (p.Glu86Ter) c.247G>T (p.Glu83Ter) c.376G>T (p.Glu126Ter) c.367G>T (p.Glu123Ter) c.358G>T (p.Glu120Ter) c.229G>T (p.Glu77Ter) n.69+2179C>A | gnomAD v4 |
| 17 | g.8121993C>G | CA397988913 | HES7 | c.271G>C (p.Glu91Gln) c.256G>C (p.Glu86Gln) c.247G>C (p.Glu83Gln) c.376G>C (p.Glu126Gln) c.367G>C (p.Glu123Gln) c.358G>C (p.Glu120Gln) c.229G>C (p.Glu77Gln) n.69+2179C>G | |
| 17 | g.8121993C>T | CA397988911 | HES7 | c.271G>A (p.Glu91Lys) c.256G>A (p.Glu86Lys) c.247G>A (p.Glu83Lys) c.376G>A (p.Glu126Lys) c.367G>A (p.Glu123Lys) c.358G>A (p.Glu120Lys) c.229G>A (p.Glu77Lys) n.69+2179C>T | gnomAD v4 |
| 17 | g.8121994G>A | CA497955383 | HES7 | c.270C>T (p.Ala90=) c.255C>T (p.Ala85=) c.246C>T (p.Ala82=) c.375C>T (p.Ala125=) c.366C>T (p.Ala122=) c.357C>T (p.Ala119=) c.228C>T (p.Ala76=) n.69+2180G>A | gnomAD v4 |
| 17 | g.8121994G>C | CA497955387 | HES7 | c.270C>G (p.Ala90=) c.255C>G (p.Ala85=) c.246C>G (p.Ala82=) c.375C>G (p.Ala125=) c.366C>G (p.Ala122=) c.357C>G (p.Ala119=) c.228C>G (p.Ala76=) n.69+2180G>C | |
| 17 | g.8121994G>T | CA497955385 | HES7 | c.270C>A (p.Ala90=) c.255C>A (p.Ala85=) c.246C>A (p.Ala82=) c.375C>A (p.Ala125=) c.366C>A (p.Ala122=) c.357C>A (p.Ala119=) c.228C>A (p.Ala76=) n.69+2180G>T | gnomAD v4 |
| 17 | g.8121995G>A | CA397988917 | HES7 | c.269C>T (p.Ala90Val) c.254C>T (p.Ala85Val) c.245C>T (p.Ala82Val) c.374C>T (p.Ala125Val) c.365C>T (p.Ala122Val) c.356C>T (p.Ala119Val) c.227C>T (p.Ala76Val) n.69+2181G>A | gnomAD v4 |
| 17 | g.8121995G>C | CA397988920 | HES7 | c.269C>G (p.Ala90Gly) c.254C>G (p.Ala85Gly) c.245C>G (p.Ala82Gly) c.374C>G (p.Ala125Gly) c.365C>G (p.Ala122Gly) c.356C>G (p.Ala119Gly) c.227C>G (p.Ala76Gly) n.69+2181G>C | |
| 17 | g.8121995G>T | CA397988922 | HES7 | c.269C>A (p.Ala90Asp) c.254C>A (p.Ala85Asp) c.245C>A (p.Ala82Asp) c.374C>A (p.Ala125Asp) c.365C>A (p.Ala122Asp) c.356C>A (p.Ala119Asp) c.227C>A (p.Ala76Asp) n.69+2181G>T | |
| 17 | g.8121996C>A | CA397988925 | HES7 | c.268G>T (p.Ala90Ser) c.253G>T (p.Ala85Ser) c.244G>T (p.Ala82Ser) c.373G>T (p.Ala125Ser) c.364G>T (p.Ala122Ser) c.355G>T (p.Ala119Ser) c.226G>T (p.Ala76Ser) n.69+2182C>A | dbSNP gnomAD v4 |
| 17 | g.8121996C= | CA2246160865 | HES7 | c.268G= (p.Ala90=) c.253G= (p.Ala85=) c.244G= (p.Ala82=) c.373G= (p.Ala125=) c.364G= (p.Ala122=) c.355G= (p.Ala119=) c.226G= (p.Ala76=) n.69+2182C= | |
| 17 | g.8121996C>G | CA397988928 | HES7 | c.268G>C (p.Ala90Pro) c.253G>C (p.Ala85Pro) c.244G>C (p.Ala82Pro) c.373G>C (p.Ala125Pro) c.364G>C (p.Ala122Pro) c.355G>C (p.Ala119Pro) c.226G>C (p.Ala76Pro) n.69+2182C>G | gnomAD v4 |
| 17 | g.8121996C>T | CA397988931 | HES7 | c.268G>A (p.Ala90Thr) c.253G>A (p.Ala85Thr) c.244G>A (p.Ala82Thr) c.373G>A (p.Ala125Thr) c.364G>A (p.Ala122Thr) c.355G>A (p.Ala119Thr) c.226G>A (p.Ala76Thr) n.69+2182C>T | gnomAD v4 |
| 17 | g.8121997G>A | CA497955392 | HES7 | c.267C>T (p.Asp89=) c.252C>T (p.Asp84=) c.243C>T (p.Asp81=) c.372C>T (p.Asp124=) c.363C>T (p.Asp121=) c.354C>T (p.Asp118=) c.225C>T (p.Asp75=) n.69+2183G>A | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.8121997G>C | CA397988936 | HES7 | c.267C>G (p.Asp89Glu) c.252C>G (p.Asp84Glu) c.243C>G (p.Asp81Glu) c.372C>G (p.Asp124Glu) c.363C>G (p.Asp121Glu) c.354C>G (p.Asp118Glu) c.225C>G (p.Asp75Glu) n.69+2183G>C | |
| 17 | g.8121997G= | CA2246160871 | HES7 | c.267C= (p.Asp89=) c.252C= (p.Asp84=) c.243C= (p.Asp81=) c.372C= (p.Asp124=) c.363C= (p.Asp121=) c.354C= (p.Asp118=) c.225C= (p.Asp75=) n.69+2183G= | |
| 17 | g.8121997G>T | CA397988938 | HES7 | c.267C>A (p.Asp89Glu) c.252C>A (p.Asp84Glu) c.243C>A (p.Asp81Glu) c.372C>A (p.Asp124Glu) c.363C>A (p.Asp121Glu) c.354C>A (p.Asp118Glu) c.225C>A (p.Asp75Glu) n.69+2183G>T | gnomAD v4 |
| 17 | g.8121998T>A | CA397988940 | HES7 | c.266A>T (p.Asp89Val) c.251A>T (p.Asp84Val) c.242A>T (p.Asp81Val) c.371A>T (p.Asp124Val) c.362A>T (p.Asp121Val) c.353A>T (p.Asp118Val) c.224A>T (p.Asp75Val) n.69+2184T>A | |
| 17 | g.8121998T>C | CA397988943 | HES7 | c.266A>G (p.Asp89Gly) c.251A>G (p.Asp84Gly) c.242A>G (p.Asp81Gly) c.371A>G (p.Asp124Gly) c.362A>G (p.Asp121Gly) c.353A>G (p.Asp118Gly) c.224A>G (p.Asp75Gly) n.69+2184T>C | |
| 17 | g.8121998T>G | CA397988947 | HES7 | c.266A>C (p.Asp89Ala) c.251A>C (p.Asp84Ala) c.242A>C (p.Asp81Ala) c.371A>C (p.Asp124Ala) c.362A>C (p.Asp121Ala) c.353A>C (p.Asp118Ala) c.224A>C (p.Asp75Ala) n.69+2184T>G | |
| 17 | g.8121998_8121999delinsTC | CA2246160874 | HES7 | c.265_266delinsGA (p.Asp89=) c.250_251delinsGA (p.Asp84=) c.241_242delinsGA (p.Asp81=) c.370_371delinsGA (p.Asp124=) c.361_362delinsGA (p.Asp121=) c.352_353delinsGA (p.Asp118=) c.223_224delinsGA (p.Asp75=) n.69+2184_69+2185delinsTC | |
| 17 | g.8121999C>A | CA397988949 | HES7 | c.265G>T (p.Asp89Tyr) c.250G>T (p.Asp84Tyr) c.241G>T (p.Asp81Tyr) c.370G>T (p.Asp124Tyr) c.361G>T (p.Asp121Tyr) c.352G>T (p.Asp118Tyr) c.223G>T (p.Asp75Tyr) n.69+2185C>A | |
| 17 | g.8121999C>G | CA397988952 | HES7 | c.265G>C (p.Asp89His) c.250G>C (p.Asp84His) c.241G>C (p.Asp81His) c.370G>C (p.Asp124His) c.361G>C (p.Asp121His) c.352G>C (p.Asp118His) c.223G>C (p.Asp75His) n.69+2185C>G | |
| 17 | g.8121999C>T | CA397988954 | HES7 | c.265G>A (p.Asp89Asn) c.250G>A (p.Asp84Asn) c.241G>A (p.Asp81Asn) c.370G>A (p.Asp124Asn) c.361G>A (p.Asp121Asn) c.352G>A (p.Asp118Asn) c.223G>A (p.Asp75Asn) n.69+2185C>T | |
| 17 | g.8122000del | CA775624043 | HES7 | c.265del (p.Asp89ThrfsTer?) c.250del (p.Asp84ThrfsTer?) c.241del (p.Asp81ThrfsTer?) c.370del (p.Asp124ThrfsTer?) c.361del (p.Asp121ThrfsTer?) c.352del (p.Asp118ThrfsTer?) c.223del (p.Asp75ThrfsTer?) n.69+2186del | dbSNP |
| 17 | g.8122000C>A | CA397988957 | HES7 | c.264G>T (p.Gln88His) c.249G>T (p.Gln83His) c.240G>T (p.Gln80His) c.369G>T (p.Gln123His) c.360G>T (p.Gln120His) c.351G>T (p.Gln117His) c.222G>T (p.Gln74His) n.69+2186C>A | gnomAD v4 |
| 17 | g.8122000C>G | CA397988960 | HES7 | c.264G>C (p.Gln88His) c.249G>C (p.Gln83His) c.240G>C (p.Gln80His) c.369G>C (p.Gln123His) c.360G>C (p.Gln120His) c.351G>C (p.Gln117His) c.222G>C (p.Gln74His) n.69+2186C>G | |
| 17 | g.8122000C>T | CA497955401 | HES7 | c.264G>A (p.Gln88=) c.249G>A (p.Gln83=) c.240G>A (p.Gln80=) c.369G>A (p.Gln123=) c.360G>A (p.Gln120=) c.351G>A (p.Gln117=) c.222G>A (p.Gln74=) n.69+2186C>T | |
| 17 | g.8122001T>A | CA397988963 | HES7 | c.263A>T (p.Gln88Leu) c.248A>T (p.Gln83Leu) c.239A>T (p.Gln80Leu) c.368A>T (p.Gln123Leu) c.359A>T (p.Gln120Leu) c.350A>T (p.Gln117Leu) c.221A>T (p.Gln74Leu) n.69+2187T>A | |
| 17 | g.8122001T>C | CA397988964 | HES7 | c.263A>G (p.Gln88Arg) c.248A>G (p.Gln83Arg) c.239A>G (p.Gln80Arg) c.368A>G (p.Gln123Arg) c.359A>G (p.Gln120Arg) c.350A>G (p.Gln117Arg) c.221A>G (p.Gln74Arg) n.69+2187T>C | gnomAD v4 |
| 17 | g.8122001T>G | CA397988967 | HES7 | c.263A>C (p.Gln88Pro) c.248A>C (p.Gln83Pro) c.239A>C (p.Gln80Pro) c.368A>C (p.Gln123Pro) c.359A>C (p.Gln120Pro) c.350A>C (p.Gln117Pro) c.221A>C (p.Gln74Pro) n.69+2187T>G | |
| 17 | g.8122002G>A | CA397988970 | HES7 | c.262C>T (p.Gln88Ter) c.247C>T (p.Gln83Ter) c.238C>T (p.Gln80Ter) c.367C>T (p.Gln123Ter) c.358C>T (p.Gln120Ter) c.349C>T (p.Gln117Ter) c.220C>T (p.Gln74Ter) n.69+2188G>A | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8122002G>C | CA397988972 | HES7 | c.262C>G (p.Gln88Glu) c.247C>G (p.Gln83Glu) c.238C>G (p.Gln80Glu) c.367C>G (p.Gln123Glu) c.358C>G (p.Gln120Glu) c.349C>G (p.Gln117Glu) c.220C>G (p.Gln74Glu) n.69+2188G>C | |
| 17 | g.8122002G>T | CA397988975 | HES7 | c.262C>A (p.Gln88Lys) c.247C>A (p.Gln83Lys) c.238C>A (p.Gln80Lys) c.367C>A (p.Gln123Lys) c.358C>A (p.Gln120Lys) c.349C>A (p.Gln117Lys) c.220C>A (p.Gln74Lys) n.69+2188G>T | |
| 17 | g.8122003del | CA2808397536 | HES7 | c.262del (p.Gln88ArgfsTer?) c.247del (p.Gln83ArgfsTer?) c.238del (p.Gln80ArgfsTer?) c.367del (p.Gln123ArgfsTer?) c.358del (p.Gln120ArgfsTer?) c.349del (p.Gln117ArgfsTer?) c.220del (p.Gln74ArgfsTer?) n.69+2189del | |
| 17 | g.8122003G>A | CA497955404 | HES7 | c.261C>T (p.Val87=) c.246C>T (p.Val82=) c.237C>T (p.Val79=) c.366C>T (p.Val122=) c.357C>T (p.Val119=) c.348C>T (p.Val116=) c.219C>T (p.Val73=) n.69+2189G>A | gnomAD v4 |
| 17 | g.8122003G>C | CA497955405 | HES7 | c.261C>G (p.Val87=) c.246C>G (p.Val82=) c.237C>G (p.Val79=) c.366C>G (p.Val122=) c.357C>G (p.Val119=) c.348C>G (p.Val116=) c.219C>G (p.Val73=) n.69+2189G>C | |
| 17 | g.8122003G>T | CA497955406 | HES7 | c.261C>A (p.Val87=) c.246C>A (p.Val82=) c.237C>A (p.Val79=) c.366C>A (p.Val122=) c.357C>A (p.Val119=) c.348C>A (p.Val116=) c.219C>A (p.Val73=) n.69+2189G>T | gnomAD v4 |
| 17 | g.8122004A= | CA2246160877 | HES7 | c.260T= (p.Val87=) c.245T= (p.Val82=) c.236T= (p.Val79=) c.365T= (p.Val122=) c.356T= (p.Val119=) c.347T= (p.Val116=) c.218T= (p.Val73=) n.69+2190A= | |
| 17 | g.8122004A>C | CA397988978 | HES7 | c.260T>G (p.Val87Gly) c.245T>G (p.Val82Gly) c.236T>G (p.Val79Gly) c.365T>G (p.Val122Gly) c.356T>G (p.Val119Gly) c.347T>G (p.Val116Gly) c.218T>G (p.Val73Gly) n.69+2190A>C | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.8122004A>G | CA397988981 | HES7 | c.260T>C (p.Val87Ala) c.245T>C (p.Val82Ala) c.236T>C (p.Val79Ala) c.365T>C (p.Val122Ala) c.356T>C (p.Val119Ala) c.347T>C (p.Val116Ala) c.218T>C (p.Val73Ala) n.69+2190A>G | |
| 17 | g.8122004A>T | CA397988984 | HES7 | c.260T>A (p.Val87Asp) c.245T>A (p.Val82Asp) c.236T>A (p.Val79Asp) c.365T>A (p.Val122Asp) c.356T>A (p.Val119Asp) c.347T>A (p.Val116Asp) c.218T>A (p.Val73Asp) n.69+2190A>T | |
| 17 | g.8122004_8122005insGACCTCCCCCGGGACCTTCCTGACGCGTTCGACCGAGGCGCTGACGGCCGGCCTCTACGAGGGGCTTCCCGCCAGGTTCCTCGAG | CA2741516672 | HES7 | c.259_260insCTCGAGGAACCTGGCGGGAAGCCCCTCGTAGAGGCCGGCCGTCAGCGCCTCGGTCGAACGCGTCAGGAAGGTCCCGGGGGAGGTC (p.Val87AlafsTer?) c.244_245insCTCGAGGAACCTGGCGGGAAGCCCCTCGTAGAGGCCGGCCGTCAGCGCCTCGGTCGAACGCGTCAGGAAGGTCCCGGGGGAGGTC (p.Val82AlafsTer?) c.235_236insCTCGAGGAACCTGGCGGGAAGCCCCTCGTAGAGGCCGGCCGTCAGCGCCTCGGTCGAACGCGTCAGGAAGGTCCCGGGGGAGGTC (p.Val79AlafsTer?) c.364_365insCTCGAGGAACCTGGCGGGAAGCCCCTCGTAGAGGCCGGCCGTCAGCGCCTCGGTCGAACGCGTCAGGAAGGTCCCGGGGGAGGTC (p.Val122AlafsTer?) c.355_356insCTCGAGGAACCTGGCGGGAAGCCCCTCGTAGAGGCCGGCCGTCAGCGCCTCGGTCGAACGCGTCAGGAAGGTCCCGGGGGAGGTC (p.Val119AlafsTer?) c.346_347insCTCGAGGAACCTGGCGGGAAGCCCCTCGTAGAGGCCGGCCGTCAGCGCCTCGGTCGAACGCGTCAGGAAGGTCCCGGGGGAGGTC (p.Val116AlafsTer?) c.217_218insCTCGAGGAACCTGGCGGGAAGCCCCTCGTAGAGGCCGGCCGTCAGCGCCTCGGTCGAACGCGTCAGGAAGGTCCCGGGGGAGGTC (p.Val73AlafsTer?) n.69+2190_69+2191insGACCTCCCCCGGGACCTTCCTGACGCGTTCGACCGAGGCGCTGACGGCCGGCCTCTACGAGGGGCTTCCCGCCAGGTTCCTCGAG | |
| 17 | g.8122005C>A | CA397988987 | HES7 | c.259G>T (p.Val87Phe) c.244G>T (p.Val82Phe) c.235G>T (p.Val79Phe) c.364G>T (p.Val122Phe) c.355G>T (p.Val119Phe) c.346G>T (p.Val116Phe) c.217G>T (p.Val73Phe) n.69+2191C>A | gnomAD v4 |
| 17 | g.8122005C>G | CA397988990 | HES7 | c.259G>C (p.Val87Leu) c.244G>C (p.Val82Leu) c.235G>C (p.Val79Leu) c.364G>C (p.Val122Leu) c.355G>C (p.Val119Leu) c.346G>C (p.Val116Leu) c.217G>C (p.Val73Leu) n.69+2191C>G | |
| 17 | g.8122005C>T | CA397988992 | HES7 | c.259G>A (p.Val87Ile) c.244G>A (p.Val82Ile) c.235G>A (p.Val79Ile) c.364G>A (p.Val122Ile) c.355G>A (p.Val119Ile) c.346G>A (p.Val116Ile) c.217G>A (p.Val73Ile) n.69+2191C>T | gnomAD v4 |
| 17 | g.8122006T>A | CA497955410 | HES7 | c.258A>T (p.Pro86=) c.243A>T (p.Pro81=) c.234A>T (p.Pro78=) c.363A>T (p.Pro121=) c.354A>T (p.Pro118=) c.345A>T (p.Pro115=) c.216A>T (p.Pro72=) n.69+2192T>A | |
| 17 | g.8122006T>C | CA497955411 | HES7 | c.258A>G (p.Pro86=) c.243A>G (p.Pro81=) c.234A>G (p.Pro78=) c.363A>G (p.Pro121=) c.354A>G (p.Pro118=) c.345A>G (p.Pro115=) c.216A>G (p.Pro72=) n.69+2192T>C | gnomAD v4 |
| 17 | g.8122006T>G | CA497955412 | HES7 | c.258A>C (p.Pro86=) c.243A>C (p.Pro81=) c.234A>C (p.Pro78=) c.363A>C (p.Pro121=) c.354A>C (p.Pro118=) c.345A>C (p.Pro115=) c.216A>C (p.Pro72=) n.69+2192T>G | |
| 17 | g.8122007G>A | CA397988994 | HES7 | c.257C>T (p.Pro86Leu) c.242C>T (p.Pro81Leu) c.233C>T (p.Pro78Leu) c.362C>T (p.Pro121Leu) c.353C>T (p.Pro118Leu) c.344C>T (p.Pro115Leu) c.215C>T (p.Pro72Leu) n.69+2193G>A | gnomAD v4 |
| 17 | g.8122007G>C | CA397988996 | HES7 | c.257C>G (p.Pro86Arg) c.242C>G (p.Pro81Arg) c.233C>G (p.Pro78Arg) c.362C>G (p.Pro121Arg) c.353C>G (p.Pro118Arg) c.344C>G (p.Pro115Arg) c.215C>G (p.Pro72Arg) n.69+2193G>C | |
| 17 | g.8122007G>T | CA397988995 | HES7 | c.257C>A (p.Pro86Gln) c.242C>A (p.Pro81Gln) c.233C>A (p.Pro78Gln) c.362C>A (p.Pro121Gln) c.353C>A (p.Pro118Gln) c.344C>A (p.Pro115Gln) c.215C>A (p.Pro72Gln) n.69+2193G>T | gnomAD v4 |
| 17 | g.8122010del | CA2635938600 | HES7 | c.257del (p.Pro86GlnfsTer?) c.242del (p.Pro81GlnfsTer?) c.233del (p.Pro78GlnfsTer?) c.362del (p.Pro121GlnfsTer?) c.353del (p.Pro118GlnfsTer?) c.344del (p.Pro115GlnfsTer?) c.215del (p.Pro72GlnfsTer?) n.69+2196del | gnomAD v4 |
| 17 | g.8122008G>A | CA397988998 | HES7 | c.256C>T (p.Pro86Ser) c.241C>T (p.Pro81Ser) c.232C>T (p.Pro78Ser) c.361C>T (p.Pro121Ser) c.352C>T (p.Pro118Ser) c.343C>T (p.Pro115Ser) c.214C>T (p.Pro72Ser) n.69+2194G>A | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.8122008G>C | CA397988999 | HES7 | c.256C>G (p.Pro86Ala) c.241C>G (p.Pro81Ala) c.232C>G (p.Pro78Ala) c.361C>G (p.Pro121Ala) c.352C>G (p.Pro118Ala) c.343C>G (p.Pro115Ala) c.214C>G (p.Pro72Ala) n.69+2194G>C | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8122008G= | CA2246160880 | HES7 | c.256C= (p.Pro86=) c.241C= (p.Pro81=) c.232C= (p.Pro78=) c.361C= (p.Pro121=) c.352C= (p.Pro118=) c.343C= (p.Pro115=) c.214C= (p.Pro72=) n.69+2194G= | |
| 17 | g.8122008G>T | CA397989001 | HES7 | c.256C>A (p.Pro86Thr) c.241C>A (p.Pro81Thr) c.232C>A (p.Pro78Thr) c.361C>A (p.Pro121Thr) c.352C>A (p.Pro118Thr) c.343C>A (p.Pro115Thr) c.214C>A (p.Pro72Thr) n.69+2194G>T | gnomAD v4 |
| 17 | g.8122009G>A | CA8368670 | HES7 | c.255C>T (p.Ser85=) c.240C>T (p.Ser80=) c.231C>T (p.Ser77=) c.360C>T (p.Ser120=) c.351C>T (p.Ser117=) c.342C>T (p.Ser114=) c.213C>T (p.Ser71=) n.69+2195G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8122009G>C | CA497955418 | HES7 | c.255C>G (p.Ser85=) c.240C>G (p.Ser80=) c.231C>G (p.Ser77=) c.360C>G (p.Ser120=) c.351C>G (p.Ser117=) c.342C>G (p.Ser114=) c.213C>G (p.Ser71=) n.69+2195G>C | |
| 17 | g.8122009G= | CA2246160887 | HES7 | c.255C= (p.Ser85=) c.240C= (p.Ser80=) c.231C= (p.Ser77=) c.360C= (p.Ser120=) c.351C= (p.Ser117=) c.342C= (p.Ser114=) c.213C= (p.Ser71=) n.69+2195G= | |
| 17 | g.8122009G>T | CA497955420 | HES7 | c.255C>A (p.Ser85=) c.240C>A (p.Ser80=) c.231C>A (p.Ser77=) c.360C>A (p.Ser120=) c.351C>A (p.Ser117=) c.342C>A (p.Ser114=) c.213C>A (p.Ser71=) n.69+2195G>T | gnomAD v4 |
| 17 | g.8122010G>A | CA397989004 | HES7 | c.254C>T (p.Ser85Phe) c.239C>T (p.Ser80Phe) c.230C>T (p.Ser77Phe) c.359C>T (p.Ser120Phe) c.350C>T (p.Ser117Phe) c.341C>T (p.Ser114Phe) c.212C>T (p.Ser71Phe) n.69+2196G>A | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8122010G>C | CA397989007 | HES7 | c.254C>G (p.Ser85Cys) c.239C>G (p.Ser80Cys) c.230C>G (p.Ser77Cys) c.359C>G (p.Ser120Cys) c.350C>G (p.Ser117Cys) c.341C>G (p.Ser114Cys) c.212C>G (p.Ser71Cys) n.69+2196G>C | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.8122010G= | CA2246160890 | HES7 | c.254C= (p.Ser85=) c.239C= (p.Ser80=) c.230C= (p.Ser77=) c.359C= (p.Ser120=) c.350C= (p.Ser117=) c.341C= (p.Ser114=) c.212C= (p.Ser71=) n.69+2196G= | |
| 17 | g.8122010G>T | CA397989010 | HES7 | c.254C>A (p.Ser85Tyr) c.239C>A (p.Ser80Tyr) c.230C>A (p.Ser77Tyr) c.359C>A (p.Ser120Tyr) c.350C>A (p.Ser117Tyr) c.341C>A (p.Ser114Tyr) c.212C>A (p.Ser71Tyr) n.69+2196G>T | gnomAD v4 |
| 17 | g.8122011A>C | CA397989014 | HES7 | c.253T>G (p.Ser85Ala) c.238T>G (p.Ser80Ala) c.229T>G (p.Ser77Ala) c.358T>G (p.Ser120Ala) c.349T>G (p.Ser117Ala) c.340T>G (p.Ser114Ala) c.211T>G (p.Ser71Ala) n.69+2197A>C | |
| 17 | g.8122011A>G | CA397989015 | HES7 | c.253T>C (p.Ser85Pro) c.238T>C (p.Ser80Pro) c.229T>C (p.Ser77Pro) c.358T>C (p.Ser120Pro) c.349T>C (p.Ser117Pro) c.340T>C (p.Ser114Pro) c.211T>C (p.Ser71Pro) n.69+2197A>G | gnomAD v4 |
| 17 | g.8122011A>T | CA397989017 | HES7 | c.253T>A (p.Ser85Thr) c.238T>A (p.Ser80Thr) c.229T>A (p.Ser77Thr) c.358T>A (p.Ser120Thr) c.349T>A (p.Ser117Thr) c.340T>A (p.Ser114Thr) c.211T>A (p.Ser71Thr) n.69+2197A>T | |
| 17 | g.8122012C>A | CA497955428 | HES7 | c.252G>T (p.Arg84=) c.237G>T (p.Arg79=) c.228G>T (p.Arg76=) c.357G>T (p.Arg119=) c.348G>T (p.Arg116=) c.339G>T (p.Arg113=) c.210G>T (p.Arg70=) n.69+2198C>A | gnomAD v4 |
| 17 | g.8122012C>G | CA497955429 | HES7 | c.252G>C (p.Arg84=) c.237G>C (p.Arg79=) c.228G>C (p.Arg76=) c.357G>C (p.Arg119=) c.348G>C (p.Arg116=) c.339G>C (p.Arg113=) c.210G>C (p.Arg70=) n.69+2198C>G | |
| 17 | g.8122012C>T | CA497955430 | HES7 | c.252G>A (p.Arg84=) c.237G>A (p.Arg79=) c.228G>A (p.Arg76=) c.357G>A (p.Arg119=) c.348G>A (p.Arg116=) c.339G>A (p.Arg113=) c.210G>A (p.Arg70=) n.69+2198C>T | gnomAD v4 |
| 17 | g.8122013C>A | CA397989025 | HES7 | c.251G>T (p.Arg84Leu) c.236G>T (p.Arg79Leu) c.227G>T (p.Arg76Leu) c.356G>T (p.Arg119Leu) c.347G>T (p.Arg116Leu) c.338G>T (p.Arg113Leu) c.209G>T (p.Arg70Leu) n.69+2199C>A | gnomAD v4 |
| 17 | g.8122013C= | CA2246160895 | HES7 | c.251G= (p.Arg84=) c.236G= (p.Arg79=) c.227G= (p.Arg76=) c.356G= (p.Arg119=) c.347G= (p.Arg116=) c.338G= (p.Arg113=) c.209G= (p.Arg70=) n.69+2199C= | |
| 17 | g.8122013C>G | CA397989022 | HES7 | c.251G>C (p.Arg84Pro) c.236G>C (p.Arg79Pro) c.227G>C (p.Arg76Pro) c.356G>C (p.Arg119Pro) c.347G>C (p.Arg116Pro) c.338G>C (p.Arg113Pro) c.209G>C (p.Arg70Pro) n.69+2199C>G | |
| 17 | g.8122013C>T | CA287537361 | HES7 | c.251G>A (p.Arg84Gln) c.236G>A (p.Arg79Gln) c.227G>A (p.Arg76Gln) c.356G>A (p.Arg119Gln) c.347G>A (p.Arg116Gln) c.338G>A (p.Arg113Gln) c.209G>A (p.Arg70Gln) n.69+2199C>T | dbSNP gnomAD v4 |
| 17 | g.8122013_8122014delinsCG | CA2246160897 | HES7 | c.250_251delinsCG (p.Arg84=) c.235_236delinsCG (p.Arg79=) c.226_227delinsCG (p.Arg76=) c.355_356delinsCG (p.Arg119=) c.346_347delinsCG (p.Arg116=) c.337_338delinsCG (p.Arg113=) c.208_209delinsCG (p.Arg70=) n.69+2199_69+2200delinsCG | |
| 17 | g.8122014G>A | CA397989028 | HES7 | c.250C>T (p.Arg84Trp) c.235C>T (p.Arg79Trp) c.226C>T (p.Arg76Trp) c.355C>T (p.Arg119Trp) c.346C>T (p.Arg116Trp) c.337C>T (p.Arg113Trp) c.208C>T (p.Arg70Trp) n.69+2200G>A | gnomAD v4 |
| 17 | g.8122014G>C | CA397989030 | HES7 | c.250C>G (p.Arg84Gly) c.235C>G (p.Arg79Gly) c.226C>G (p.Arg76Gly) c.355C>G (p.Arg119Gly) c.346C>G (p.Arg116Gly) c.337C>G (p.Arg113Gly) c.208C>G (p.Arg70Gly) n.69+2200G>C | dbSNP gnomAD v4 |
| 17 | g.8122014G= | CA2246160903 | HES7 | c.250C= (p.Arg84=) c.235C= (p.Arg79=) c.226C= (p.Arg76=) c.355C= (p.Arg119=) c.346C= (p.Arg116=) c.337C= (p.Arg113=) c.208C= (p.Arg70=) n.69+2200G= | |
| 17 | g.8122014G>T | CA497955432 | HES7 | c.250C>A (p.Arg84=) c.235C>A (p.Arg79=) c.226C>A (p.Arg76=) c.355C>A (p.Arg119=) c.346C>A (p.Arg116=) c.337C>A (p.Arg113=) c.208C>A (p.Arg70=) n.69+2200G>T | |
| 17 | g.8122017del | CA624868621 | HES7 | c.250del (p.Arg84GlyfsTer?) c.235del (p.Arg79GlyfsTer?) c.226del (p.Arg76GlyfsTer?) c.355del (p.Arg119GlyfsTer?) c.346del (p.Arg116GlyfsTer?) c.337del (p.Arg113GlyfsTer?) c.208del (p.Arg70GlyfsTer?) n.69+2203del | dbSNP gnomAD v2 |
| 17 | g.8122015G>A | CA497955433 | HES7 | c.249C>T (p.Pro83=) c.234C>T (p.Pro78=) c.225C>T (p.Pro75=) c.354C>T (p.Pro118=) c.345C>T (p.Pro115=) c.336C>T (p.Pro112=) c.207C>T (p.Pro69=) n.69+2201G>A | |
| 17 | g.8122015G>C | CA497955434 | HES7 | c.249C>G (p.Pro83=) c.234C>G (p.Pro78=) c.225C>G (p.Pro75=) c.354C>G (p.Pro118=) c.345C>G (p.Pro115=) c.336C>G (p.Pro112=) c.207C>G (p.Pro69=) n.69+2201G>C | |
| 17 | g.8122015G>T | CA497955435 | HES7 | c.249C>A (p.Pro83=) c.234C>A (p.Pro78=) c.225C>A (p.Pro75=) c.354C>A (p.Pro118=) c.345C>A (p.Pro115=) c.336C>A (p.Pro112=) c.207C>A (p.Pro69=) n.69+2201G>T | gnomAD v4 |
| 17 | g.8122016G>A | CA397989033 | HES7 | c.248C>T (p.Pro83Leu) c.233C>T (p.Pro78Leu) c.224C>T (p.Pro75Leu) c.353C>T (p.Pro118Leu) c.344C>T (p.Pro115Leu) c.335C>T (p.Pro112Leu) c.206C>T (p.Pro69Leu) n.69+2202G>A | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.8122016G>C | CA397989035 | HES7 | c.248C>G (p.Pro83Arg) c.233C>G (p.Pro78Arg) c.224C>G (p.Pro75Arg) c.353C>G (p.Pro118Arg) c.344C>G (p.Pro115Arg) c.335C>G (p.Pro112Arg) c.206C>G (p.Pro69Arg) n.69+2202G>C | |
| 17 | g.8122016G= | CA2246160908 | HES7 | c.248C= (p.Pro83=) c.233C= (p.Pro78=) c.224C= (p.Pro75=) c.353C= (p.Pro118=) c.344C= (p.Pro115=) c.335C= (p.Pro112=) c.206C= (p.Pro69=) n.69+2202G= | |
| 17 | g.8122016G>T | CA397989037 | HES7 | c.248C>A (p.Pro83His) c.233C>A (p.Pro78His) c.224C>A (p.Pro75His) c.353C>A (p.Pro118His) c.344C>A (p.Pro115His) c.335C>A (p.Pro112His) c.206C>A (p.Pro69His) n.69+2202G>T | gnomAD v4 |
| 17 | g.8122017G>A | CA397989041 | HES7 | c.247C>T (p.Pro83Ser) c.232C>T (p.Pro78Ser) c.223C>T (p.Pro75Ser) c.352C>T (p.Pro118Ser) c.343C>T (p.Pro115Ser) c.334C>T (p.Pro112Ser) c.205C>T (p.Pro69Ser) n.69+2203G>A | dbSNP gnomAD v4 |
| 17 | g.8122017G>C | CA397989043 | HES7 | c.247C>G (p.Pro83Ala) c.232C>G (p.Pro78Ala) c.223C>G (p.Pro75Ala) c.352C>G (p.Pro118Ala) c.343C>G (p.Pro115Ala) c.334C>G (p.Pro112Ala) c.205C>G (p.Pro69Ala) n.69+2203G>C | |
| 17 | g.8122017G= | CA2246160912 | HES7 | c.247C= (p.Pro83=) c.232C= (p.Pro78=) c.223C= (p.Pro75=) c.352C= (p.Pro118=) c.343C= (p.Pro115=) c.334C= (p.Pro112=) c.205C= (p.Pro69=) n.69+2203G= | |
| 17 | g.8122017G>T | CA397989056 | HES7 | c.247C>A (p.Pro83Thr) c.232C>A (p.Pro78Thr) c.223C>A (p.Pro75Thr) c.352C>A (p.Pro118Thr) c.343C>A (p.Pro115Thr) c.334C>A (p.Pro112Thr) c.205C>A (p.Pro69Thr) n.69+2203G>T | gnomAD v4 |
| 17 | g.8122018A= | CA2246160915 | HES7 | c.246T= (p.Val82=) c.231T= (p.Val77=) c.222T= (p.Val74=) c.351T= (p.Val117=) c.342T= (p.Val114=) c.333T= (p.Val111=) c.204T= (p.Val68=) n.69+2204A= | |
| 17 | g.8122018A>C | CA497955440 | HES7 | c.246T>G (p.Val82=) c.231T>G (p.Val77=) c.222T>G (p.Val74=) c.351T>G (p.Val117=) c.342T>G (p.Val114=) c.333T>G (p.Val111=) c.204T>G (p.Val68=) n.69+2204A>C | |
| 17 | g.8122018A>G | CA497955441 | HES7 | c.246T>C (p.Val82=) c.231T>C (p.Val77=) c.222T>C (p.Val74=) c.351T>C (p.Val117=) c.342T>C (p.Val114=) c.333T>C (p.Val111=) c.204T>C (p.Val68=) n.69+2204A>G | |
| 17 | g.8122018A>T | CA8368671 | HES7 | c.246T>A (p.Val82=) c.231T>A (p.Val77=) c.222T>A (p.Val74=) c.351T>A (p.Val117=) c.342T>A (p.Val114=) c.333T>A (p.Val111=) c.204T>A (p.Val68=) n.69+2204A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8122019A>C | CA397989061 | HES7 | c.245T>G (p.Val82Gly) c.230T>G (p.Val77Gly) c.221T>G (p.Val74Gly) c.350T>G (p.Val117Gly) c.341T>G (p.Val114Gly) c.332T>G (p.Val111Gly) c.203T>G (p.Val68Gly) n.69+2205A>C | |
| 17 | g.8122019A>G | CA397989062 | HES7 | c.245T>C (p.Val82Ala) c.230T>C (p.Val77Ala) c.221T>C (p.Val74Ala) c.350T>C (p.Val117Ala) c.341T>C (p.Val114Ala) c.332T>C (p.Val111Ala) c.203T>C (p.Val68Ala) n.69+2205A>G | gnomAD v4 |
| 17 | g.8122019A>T | CA397989065 | HES7 | c.245T>A (p.Val82Asp) c.230T>A (p.Val77Asp) c.221T>A (p.Val74Asp) c.350T>A (p.Val117Asp) c.341T>A (p.Val114Asp) c.332T>A (p.Val111Asp) c.203T>A (p.Val68Asp) n.69+2205A>T | |
| 17 | g.8122020C>A | CA397989072 | HES7 | c.244G>T (p.Val82Phe) c.229G>T (p.Val77Phe) c.220G>T (p.Val74Phe) c.349G>T (p.Val117Phe) c.340G>T (p.Val114Phe) c.331G>T (p.Val111Phe) c.202G>T (p.Val68Phe) n.69+2206C>A | dbSNP |
| 17 | g.8122020C= | CA2246160917 | HES7 | c.244G= (p.Val82=) c.229G= (p.Val77=) c.220G= (p.Val74=) c.349G= (p.Val117=) c.340G= (p.Val114=) c.331G= (p.Val111=) c.202G= (p.Val68=) n.69+2206C= | |
| 17 | g.8122020C>G | CA397989074 | HES7 | c.244G>C (p.Val82Leu) c.229G>C (p.Val77Leu) c.220G>C (p.Val74Leu) c.349G>C (p.Val117Leu) c.340G>C (p.Val114Leu) c.331G>C (p.Val111Leu) c.202G>C (p.Val68Leu) n.69+2206C>G | |
| 17 | g.8122020C>T | CA397989069 | HES7 | c.244G>A (p.Val82Ile) c.229G>A (p.Val77Ile) c.220G>A (p.Val74Ile) c.349G>A (p.Val117Ile) c.340G>A (p.Val114Ile) c.331G>A (p.Val111Ile) c.202G>A (p.Val68Ile) n.69+2206C>T | gnomAD v4 |
| 17 | g.8122023del | CA2635938654 | HES7 | c.244del (p.Val82PhefsTer?) c.229del c.220del (p.Val74PhefsTer?) c.349del (p.Val117PhefsTer?) c.340del (p.Val114PhefsTer?) c.331del (p.Val111PhefsTer?) c.202del (p.Val68PhefsTer?) n.69+2209del | gnomAD v4 |
| 17 | g.8122021C>A | CA497955447 | HES7 | c.243G>T (p.Gly81=) c.228G>T (p.Gly76=) c.219G>T (p.Gly73=) c.348G>T (p.Gly116=) c.339G>T (p.Gly113=) c.330G>T (p.Gly110=) c.201G>T (p.Gly67=) n.69+2207C>A | gnomAD v4 |
| 17 | g.8122021C= | CA2246160922 | HES7 | c.243G= (p.Gly81=) c.228G= (p.Gly76=) c.219G= (p.Gly73=) c.348G= (p.Gly116=) c.339G= (p.Gly113=) c.330G= (p.Gly110=) c.201G= (p.Gly67=) n.69+2207C= | |
| 17 | g.8122021C>G | CA497955445 | HES7 | c.243G>C (p.Gly81=) c.228G>C (p.Gly76=) c.219G>C (p.Gly73=) c.348G>C (p.Gly116=) c.339G>C (p.Gly113=) c.330G>C (p.Gly110=) c.201G>C (p.Gly67=) n.69+2207C>G | gnomAD v4 |
| 17 | g.8122021C>T | CA497955444 | HES7 | c.243G>A (p.Gly81=) c.228G>A (p.Gly76=) c.219G>A (p.Gly73=) c.348G>A (p.Gly116=) c.339G>A (p.Gly113=) c.330G>A (p.Gly110=) c.201G>A (p.Gly67=) n.69+2207C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8122022C>A | CA397989076 | HES7 | c.242G>T (p.Gly81Val) c.227G>T (p.Gly76Val) c.218G>T (p.Gly73Val) c.347G>T (p.Gly116Val) c.338G>T (p.Gly113Val) c.329G>T (p.Gly110Val) c.200G>T (p.Gly67Val) n.69+2208C>A | gnomAD v4 |
| 17 | g.8122022C= | CA2246160926 | HES7 | c.242G= (p.Gly81=) c.227G= (p.Gly76=) c.218G= (p.Gly73=) c.347G= (p.Gly116=) c.338G= (p.Gly113=) c.329G= (p.Gly110=) c.200G= (p.Gly67=) n.69+2208C= | |
| 17 | g.8122022C>G | CA397989078 | HES7 | c.242G>C (p.Gly81Ala) c.227G>C (p.Gly76Ala) c.218G>C (p.Gly73Ala) c.347G>C (p.Gly116Ala) c.338G>C (p.Gly113Ala) c.329G>C (p.Gly110Ala) c.200G>C (p.Gly67Ala) n.69+2208C>G | |
| 17 | g.8122022C>T | CA397989081 | HES7 | c.242G>A (p.Gly81Glu) c.227G>A (p.Gly76Glu) c.218G>A (p.Gly73Glu) c.347G>A (p.Gly116Glu) c.338G>A (p.Gly113Glu) c.329G>A (p.Gly110Glu) c.200G>A (p.Gly67Glu) n.69+2208C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8122023C>A | CA397989084 | HES7 | c.241G>T (p.Gly81Trp) c.227-1G>T (n.227-1G>T) c.217G>T (p.Gly73Trp) c.346G>T (p.Gly116Trp) c.337G>T (p.Gly113Trp) c.328G>T (p.Gly110Trp) c.199G>T (p.Gly67Trp) n.69+2209C>A | gnomAD v4 |
| 17 | g.8122023C>G | CA397989087 | HES7 | c.241G>C (p.Gly81Arg) c.227-1G>C (n.227-1G>C) c.217G>C (p.Gly73Arg) c.346G>C (p.Gly116Arg) c.337G>C (p.Gly113Arg) c.328G>C (p.Gly110Arg) c.199G>C (p.Gly67Arg) n.69+2209C>G | gnomAD v4 |
| 17 | g.8122023C>T | CA397989090 | HES7 | c.241G>A (p.Gly81Arg) c.227-1G>A (n.227-1G>A) c.217G>A (p.Gly73Arg) c.346G>A (p.Gly116Arg) c.337G>A (p.Gly113Arg) c.328G>A (p.Gly110Arg) c.199G>A (p.Gly67Arg) n.69+2209C>T | |
| 17 | g.8122024T>A | CA397989098 | HES7 | c.240A>T (p.Pro80=) c.227-2A>T (n.227-2A>T) c.216A>T (p.Pro72=) c.345A>T (p.Pro115=) c.336A>T (p.Pro112=) c.327A>T (p.Pro109=) c.198A>T (p.Pro66=) n.69+2210T>A | gnomAD v4 |
| 17 | g.8122024T>C | CA397989093 | HES7 | c.240A>G (p.Pro80=) c.227-2A>G (n.227-2A>G) c.216A>G (p.Pro72=) c.345A>G (p.Pro115=) c.336A>G (p.Pro112=) c.327A>G (p.Pro109=) c.198A>G (p.Pro66=) n.69+2210T>C | gnomAD v4 |
| 17 | g.8122024T>G | CA397989095 | HES7 | c.240A>C (p.Pro80=) c.227-2A>C (n.227-2A>C) c.216A>C (p.Pro72=) c.345A>C (p.Pro115=) c.336A>C (p.Pro112=) c.327A>C (p.Pro109=) c.198A>C (p.Pro66=) n.69+2210T>G | |
| 17 | g.8122025G>A | CA397989100 | HES7 | c.239C>T (p.Pro80Leu) c.227-3C>T (n.227-3C>T) c.215C>T (p.Pro72Leu) c.344C>T (p.Pro115Leu) c.335C>T (p.Pro112Leu) c.326C>T (p.Pro109Leu) c.197C>T (p.Pro66Leu) n.69+2211G>A | gnomAD v4 |
| 17 | g.8122025G>C | CA397989102 | HES7 | c.239C>G (p.Pro80Arg) c.227-3C>G (n.227-3C>G) c.215C>G (p.Pro72Arg) c.344C>G (p.Pro115Arg) c.335C>G (p.Pro112Arg) c.326C>G (p.Pro109Arg) c.197C>G (p.Pro66Arg) n.69+2211G>C | |
| 17 | g.8122025G>T | CA397989105 | HES7 | c.239C>A (p.Pro80Gln) c.227-3C>A (n.227-3C>A) c.215C>A (p.Pro72Gln) c.344C>A (p.Pro115Gln) c.335C>A (p.Pro112Gln) c.326C>A (p.Pro109Gln) c.197C>A (p.Pro66Gln) n.69+2211G>T | gnomAD v4 |
| 17 | g.8122026G>A | CA397989109 | HES7 | c.238C>T (p.Pro80Ser) c.227-4C>T (n.227-4C>T) c.214C>T (p.Pro72Ser) c.343C>T (p.Pro115Ser) c.334C>T (p.Pro112Ser) c.325C>T (p.Pro109Ser) c.196C>T (p.Pro66Ser) n.69+2212G>A | |
| 17 | g.8122026G>C | CA397989111 | HES7 | c.238C>G (p.Pro80Ala) c.227-4C>G (n.227-4C>G) c.214C>G (p.Pro72Ala) c.343C>G (p.Pro115Ala) c.334C>G (p.Pro112Ala) c.325C>G (p.Pro109Ala) c.196C>G (p.Pro66Ala) n.69+2212G>C | dbSNP |
| 17 | g.8122026G= | CA2246160930 | HES7 | c.238C= (p.Pro80=) c.227-4C= (n.227-4C=) c.214C= (p.Pro72=) c.343C= (p.Pro115=) c.334C= (p.Pro112=) c.325C= (p.Pro109=) c.196C= (p.Pro66=) n.69+2212G= | |
| 17 | g.8122026G>T | CA397989113 | HES7 | c.238C>A (p.Pro80Thr) c.227-4C>A (n.227-4C>A) c.214C>A (p.Pro72Thr) c.343C>A (p.Pro115Thr) c.334C>A (p.Pro112Thr) c.325C>A (p.Pro109Thr) c.196C>A (p.Pro66Thr) n.69+2212G>T | |
| 17 | g.8122027A= | CA2246160934 | HES7 | c.237T= (p.Ala79=) c.227-5T= (n.227-5T=) c.213T= (p.Ala71=) c.342T= (p.Ala114=) c.333T= (p.Ala111=) c.324T= (p.Ala108=) c.195T= (p.Ala65=) n.69+2213A= | |
| 17 | g.8122027A>C | CA497955458 | HES7 | c.237T>G (p.Ala79=) c.227-5T>G (n.227-5T>G) c.213T>G (p.Ala71=) c.342T>G (p.Ala114=) c.333T>G (p.Ala111=) c.324T>G (p.Ala108=) c.195T>G (p.Ala65=) n.69+2213A>C | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8122027A>G | CA497955460 | HES7 | c.237T>C (p.Ala79=) c.227-5T>C (n.227-5T>C) c.213T>C (p.Ala71=) c.342T>C (p.Ala114=) c.333T>C (p.Ala111=) c.324T>C (p.Ala108=) c.195T>C (p.Ala65=) n.69+2213A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8122027A>T | CA497955459 | HES7 | c.237T>A (p.Ala79=) c.227-5T>A (n.227-5T>A) c.213T>A (p.Ala71=) c.342T>A (p.Ala114=) c.333T>A (p.Ala111=) c.324T>A (p.Ala108=) c.195T>A (p.Ala65=) n.69+2213A>T | gnomAD v4 |
| 17 | g.8122028G>A | CA8368672 | HES7 | c.236C>T (p.Ala79Val) c.227-6C>T (n.227-6C>T) c.212C>T (p.Ala71Val) c.341C>T (p.Ala114Val) c.332C>T (p.Ala111Val) c.323C>T (p.Ala108Val) c.194C>T (p.Ala65Val) n.69+2214G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8122028G>C | CA397989119 | HES7 | c.236C>G (p.Ala79Gly) c.227-6C>G (n.227-6C>G) c.212C>G (p.Ala71Gly) c.341C>G (p.Ala114Gly) c.332C>G (p.Ala111Gly) c.323C>G (p.Ala108Gly) c.194C>G (p.Ala65Gly) n.69+2214G>C | gnomAD v4 |
| 17 | g.8122028G= | CA2246160938 | HES7 | c.236C= (p.Ala79=) c.227-6C= (n.227-6C=) c.212C= (p.Ala71=) c.341C= (p.Ala114=) c.332C= (p.Ala111=) c.323C= (p.Ala108=) c.194C= (p.Ala65=) n.69+2214G= | |
| 17 | g.8122028G>T | CA397989117 | HES7 | c.236C>A (p.Ala79Asp) c.227-6C>A (n.227-6C>A) c.212C>A (p.Ala71Asp) c.341C>A (p.Ala114Asp) c.332C>A (p.Ala111Asp) c.323C>A (p.Ala108Asp) c.194C>A (p.Ala65Asp) n.69+2214G>T | gnomAD v4 |
| 17 | g.8122031_8122079del | CA2635938703 | HES7 | c.227-39_236del c.227-54_227-6del (n.227-54_227-6del) c.203-39_212del c.332-39_341del c.323-39_332del c.314-39_323del c.185-39_194del n.69+2217_69+2265del | gnomAD v4 |
| 17 | g.8122029C>A | CA397989121 | HES7 | c.235G>T (p.Ala79Ser) c.227-7G>T (n.227-7G>T) c.211G>T (p.Ala71Ser) c.340G>T (p.Ala114Ser) c.331G>T (p.Ala111Ser) c.322G>T (p.Ala108Ser) c.193G>T (p.Ala65Ser) n.69+2215C>A | gnomAD v4 |
| 17 | g.8122029C>G | CA397989123 | HES7 | c.235G>C (p.Ala79Pro) c.227-7G>C (n.227-7G>C) c.211G>C (p.Ala71Pro) c.340G>C (p.Ala114Pro) c.331G>C (p.Ala111Pro) c.322G>C (p.Ala108Pro) c.193G>C (p.Ala65Pro) n.69+2215C>G | |
| 17 | g.8122029C>T | CA397989125 | HES7 | c.235G>A (p.Ala79Thr) c.227-7G>A (n.227-7G>A) c.211G>A (p.Ala71Thr) c.340G>A (p.Ala114Thr) c.331G>A (p.Ala111Thr) c.322G>A (p.Ala108Thr) c.193G>A (p.Ala65Thr) n.69+2215C>T | gnomAD v4 |
| 17 | g.8122030C>A | CA497955464 | HES7 | c.234G>T (p.Ala78=) c.227-8G>T (n.227-8G>T) c.210G>T (p.Ala70=) c.339G>T (p.Ala113=) c.330G>T (p.Ala110=) c.321G>T (p.Ala107=) c.192G>T (p.Ala64=) n.69+2216C>A | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.8122030C= | CA2246160940 | HES7 | c.234G= (p.Ala78=) c.227-8G= (n.227-8G=) c.210G= (p.Ala70=) c.339G= (p.Ala113=) c.330G= (p.Ala110=) c.321G= (p.Ala107=) c.192G= (p.Ala64=) n.69+2216C= | |
| 17 | g.8122030C>G | CA497955465 | HES7 | c.234G>C (p.Ala78=) c.227-8G>C (n.227-8G>C) c.210G>C (p.Ala70=) c.339G>C (p.Ala113=) c.330G>C (p.Ala110=) c.321G>C (p.Ala107=) c.192G>C (p.Ala64=) n.69+2216C>G | |
| 17 | g.8122030C>T | CA497955466 | HES7 | c.234G>A (p.Ala78=) c.227-8G>A (n.227-8G>A) c.210G>A (p.Ala70=) c.339G>A (p.Ala113=) c.330G>A (p.Ala110=) c.321G>A (p.Ala107=) c.192G>A (p.Ala64=) n.69+2216C>T | gnomAD v4 |
| 17 | g.8122031G>A | CA397989127 | HES7 | c.233C>T (p.Ala78Val) c.227-9C>T (n.227-9C>T) c.209C>T (p.Ala70Val) c.338C>T (p.Ala113Val) c.329C>T (p.Ala110Val) c.320C>T (p.Ala107Val) c.191C>T (p.Ala64Val) n.69+2217G>A | gnomAD v4 |
| 17 | g.8122031G>C | CA397989130 | HES7 | c.233C>G (p.Ala78Gly) c.227-9C>G (n.227-9C>G) c.209C>G (p.Ala70Gly) c.338C>G (p.Ala113Gly) c.329C>G (p.Ala110Gly) c.320C>G (p.Ala107Gly) c.191C>G (p.Ala64Gly) n.69+2217G>C | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.8122031G= | CA2246160945 | HES7 | c.233C= (p.Ala78=) c.227-9C= (n.227-9C=) c.209C= (p.Ala70=) c.338C= (p.Ala113=) c.329C= (p.Ala110=) c.320C= (p.Ala107=) c.191C= (p.Ala64=) n.69+2217G= | |
| 17 | g.8122031G>T | CA397989132 | HES7 | c.233C>A (p.Ala78Glu) c.227-9C>A (n.227-9C>A) c.209C>A (p.Ala70Glu) c.338C>A (p.Ala113Glu) c.329C>A (p.Ala110Glu) c.320C>A (p.Ala107Glu) c.191C>A (p.Ala64Glu) n.69+2217G>T | gnomAD v4 |
| 17 | g.8122032C>A | CA397989135 | HES7 | c.232G>T (p.Ala78Ser) c.227-10G>T (n.227-10G>T) c.208G>T (p.Ala70Ser) c.337G>T (p.Ala113Ser) c.328G>T (p.Ala110Ser) c.319G>T (p.Ala107Ser) c.190G>T (p.Ala64Ser) n.69+2218C>A | gnomAD v4 |
| 17 | g.8122032C= | CA2246160949 | HES7 | c.232G= (p.Ala78=) c.227-10G= (n.227-10G=) c.208G= (p.Ala70=) c.337G= (p.Ala113=) c.328G= (p.Ala110=) c.319G= (p.Ala107=) c.190G= (p.Ala64=) n.69+2218C= | |
| 17 | g.8122032C>G | CA397989138 | HES7 | c.232G>C (p.Ala78Pro) c.227-10G>C (n.227-10G>C) c.208G>C (p.Ala70Pro) c.337G>C (p.Ala113Pro) c.328G>C (p.Ala110Pro) c.319G>C (p.Ala107Pro) c.190G>C (p.Ala64Pro) n.69+2218C>G | |
| 17 | g.8122032C>T | CA397989141 | HES7 | c.232G>A (p.Ala78Thr) c.227-10G>A (n.227-10G>A) c.208G>A (p.Ala70Thr) c.337G>A (p.Ala113Thr) c.328G>A (p.Ala110Thr) c.319G>A (p.Ala107Thr) c.190G>A (p.Ala64Thr) n.69+2218C>T | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.8122033G>A | CA497955468 | HES7 | c.231C>T (p.Ala77=) c.227-11C>T (n.227-11C>T) c.207C>T (p.Ala69=) c.336C>T (p.Ala112=) c.327C>T (p.Ala109=) c.318C>T (p.Ala106=) c.189C>T (p.Ala63=) n.69+2219G>A | gnomAD v4 |
| 17 | g.8122033G>C | CA497955469 | HES7 | c.231C>G (p.Ala77=) c.227-11C>G (n.227-11C>G) c.207C>G (p.Ala69=) c.336C>G (p.Ala112=) c.327C>G (p.Ala109=) c.318C>G (p.Ala106=) c.189C>G (p.Ala63=) n.69+2219G>C | |
| 17 | g.8122033G>T | CA497955470 | HES7 | c.231C>A (p.Ala77=) c.227-11C>A (n.227-11C>A) c.207C>A (p.Ala69=) c.336C>A (p.Ala112=) c.327C>A (p.Ala109=) c.318C>A (p.Ala106=) c.189C>A (p.Ala63=) n.69+2219G>T | gnomAD v4 |
| 17 | g.8122034G>A | CA397989145 | HES7 | c.230C>T (p.Ala77Val) c.227-12C>T (n.227-12C>T) c.206C>T (p.Ala69Val) c.335C>T (p.Ala112Val) c.326C>T (p.Ala109Val) c.317C>T (p.Ala106Val) c.188C>T (p.Ala63Val) n.69+2220G>A | dbSNP gnomAD v2 |
| 17 | g.8122034G>C | CA397989148 | HES7 | c.230C>G (p.Ala77Gly) c.227-12C>G (n.227-12C>G) c.206C>G (p.Ala69Gly) c.335C>G (p.Ala112Gly) c.326C>G (p.Ala109Gly) c.317C>G (p.Ala106Gly) c.188C>G (p.Ala63Gly) n.69+2220G>C | gnomAD v4 |
| 17 | g.8122034G= | CA2246160954 | HES7 | c.230C= (p.Ala77=) c.227-12C= (n.227-12C=) c.206C= (p.Ala69=) c.335C= (p.Ala112=) c.326C= (p.Ala109=) c.317C= (p.Ala106=) c.188C= (p.Ala63=) n.69+2220G= | |
| 17 | g.8122034G>T | CA397989151 | HES7 | c.230C>A (p.Ala77Asp) c.227-12C>A (n.227-12C>A) c.206C>A (p.Ala69Asp) c.335C>A (p.Ala112Asp) c.326C>A (p.Ala109Asp) c.317C>A (p.Ala106Asp) c.188C>A (p.Ala63Asp) n.69+2220G>T | |
| 17 | g.8122035C>A | CA397989155 | HES7 | c.229G>T (p.Ala77Ser) c.227-13G>T (n.227-13G>T) c.205G>T (p.Ala69Ser) c.334G>T (p.Ala112Ser) c.325G>T (p.Ala109Ser) c.316G>T (p.Ala106Ser) c.187G>T (p.Ala63Ser) n.69+2221C>A | gnomAD v4 |
| 17 | g.8122035C>G | CA397989159 | HES7 | c.229G>C (p.Ala77Pro) c.227-13G>C (n.227-13G>C) c.205G>C (p.Ala69Pro) c.334G>C (p.Ala112Pro) c.325G>C (p.Ala109Pro) c.316G>C (p.Ala106Pro) c.187G>C (p.Ala63Pro) n.69+2221C>G | |
| 17 | g.8122035C>T | CA397989157 | HES7 | c.229G>A (p.Ala77Thr) c.227-13G>A (n.227-13G>A) c.205G>A (p.Ala69Thr) c.334G>A (p.Ala112Thr) c.325G>A (p.Ala109Thr) c.316G>A (p.Ala106Thr) c.187G>A (p.Ala63Thr) n.69+2221C>T | gnomAD v4 |
| 17 | g.8122036G>A | CA497955475 | HES7 | c.228C>T (p.Ala76=) c.227-14C>T (n.227-14C>T) c.204C>T (p.Ala68=) c.333C>T (p.Ala111=) c.324C>T (p.Ala108=) c.315C>T (p.Ala105=) c.186C>T (p.Ala62=) n.69+2222G>A | gnomAD v4 |
| 17 | g.8122036G>C | CA497955476 | HES7 | c.228C>G (p.Ala76=) c.227-14C>G (n.227-14C>G) c.204C>G (p.Ala68=) c.333C>G (p.Ala111=) c.324C>G (p.Ala108=) c.315C>G (p.Ala105=) c.186C>G (p.Ala62=) n.69+2222G>C | |
| 17 | g.8122036G>T | CA497955473 | HES7 | c.228C>A (p.Ala76=) c.227-14C>A (n.227-14C>A) c.204C>A (p.Ala68=) c.333C>A (p.Ala111=) c.324C>A (p.Ala108=) c.315C>A (p.Ala105=) c.186C>A (p.Ala62=) n.69+2222G>T | gnomAD v4 |
| 17 | g.8122037G>A | CA397989164 | HES7 | c.227C>T (p.Ala76Val) c.227-15C>T (n.227-15C>T) c.203C>T (p.Ala68Val) c.332C>T (p.Ala111Val) c.323C>T (p.Ala108Val) c.314C>T (p.Ala105Val) c.185C>T (p.Ala62Val) n.69+2223G>A | gnomAD v4 |
| 17 | g.8122037G>C | CA397989175 | HES7 | c.227C>G (p.Ala76Gly) c.227-15C>G (n.227-15C>G) c.203C>G (p.Ala68Gly) c.332C>G (p.Ala111Gly) c.323C>G (p.Ala108Gly) c.314C>G (p.Ala105Gly) c.185C>G (p.Ala62Gly) n.69+2223G>C | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8122037G= | CA2246160955 | HES7 | c.227C= (p.Ala76=) c.227-15C= (n.227-15C=) c.203C= (p.Ala68=) c.332C= (p.Ala111=) c.323C= (p.Ala108=) c.314C= (p.Ala105=) c.185C= (p.Ala62=) n.69+2223G= | |
| 17 | g.8122037G>T | CA397989179 | HES7 | c.227C>A (p.Ala76Asp) c.227-15C>A (n.227-15C>A) c.203C>A (p.Ala68Asp) c.332C>A (p.Ala111Asp) c.323C>A (p.Ala108Asp) c.314C>A (p.Ala105Asp) c.185C>A (p.Ala62Asp) n.69+2223G>T | gnomAD v4 |
| 17 | g.8122038C>A | CA397989185 | HES7 | c.227-1G>T (n.227-1G>T) c.227-16G>T (n.227-16G>T) c.203-1G>T (n.203-1G>T) c.332-1G>T (n.332-1G>T) c.323-1G>T (n.323-1G>T) c.314-1G>T (n.314-1G>T) c.185-1G>T (n.185-1G>T) n.69+2224C>A | gnomAD v4 |
| 17 | g.8122038C>G | CA397989188 | HES7 | c.227-1G>C (n.227-1G>C) c.227-16G>C (n.227-16G>C) c.203-1G>C (n.203-1G>C) c.332-1G>C (n.332-1G>C) c.323-1G>C (n.323-1G>C) c.314-1G>C (n.314-1G>C) c.185-1G>C (n.185-1G>C) n.69+2224C>G | |
| 17 | g.8122038C>T | CA397989191 | HES7 | c.227-1G>A (n.227-1G>A) c.227-16G>A (n.227-16G>A) c.203-1G>A (n.203-1G>A) c.332-1G>A (n.332-1G>A) c.323-1G>A (n.323-1G>A) c.314-1G>A (n.314-1G>A) c.185-1G>A (n.185-1G>A) n.69+2224C>T | gnomAD v4 |
| 17 | g.8122039T>A | CA397989194 | HES7 | c.227-2A>T (n.227-2A>T) c.227-17A>T (n.227-17A>T) c.203-2A>T (n.203-2A>T) c.332-2A>T (n.332-2A>T) c.323-2A>T (n.323-2A>T) c.314-2A>T (n.314-2A>T) c.185-2A>T (n.185-2A>T) n.69+2225T>A | |
| 17 | g.8122039T>C | CA397989198 | HES7 | c.227-2A>G (n.227-2A>G) c.227-17A>G (n.227-17A>G) c.203-2A>G (n.203-2A>G) c.332-2A>G (n.332-2A>G) c.323-2A>G (n.323-2A>G) c.314-2A>G (n.314-2A>G) c.185-2A>G (n.185-2A>G) n.69+2225T>C | |
| 17 | g.8122039T>G | CA397989200 | HES7 | c.227-2A>C (n.227-2A>C) c.227-17A>C (n.227-17A>C) c.203-2A>C (n.203-2A>C) c.332-2A>C (n.332-2A>C) c.323-2A>C (n.323-2A>C) c.314-2A>C (n.314-2A>C) c.185-2A>C (n.185-2A>C) n.69+2225T>G | |
| 17 | g.8122040G>A | CA624868622 | HES7 | c.227-3C>T (n.227-3C>T) c.227-18C>T (n.227-18C>T) c.203-3C>T (n.203-3C>T) c.332-3C>T (n.332-3C>T) c.323-3C>T (n.323-3C>T) c.314-3C>T (n.314-3C>T) c.185-3C>T (n.185-3C>T) n.69+2226G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8122040G>C | CA2635938742 | HES7 | c.227-3C>G (n.227-3C>G) c.227-18C>G (n.227-18C>G) c.203-3C>G (n.203-3C>G) c.332-3C>G (n.332-3C>G) c.323-3C>G (n.323-3C>G) c.314-3C>G (n.314-3C>G) c.185-3C>G (n.185-3C>G) n.69+2226G>C | gnomAD v4 |
| 17 | g.8122040G= | CA2246160958 | HES7 | c.227-3C= (n.227-3C=) c.227-18C= (n.227-18C=) c.203-3C= (n.203-3C=) c.332-3C= (n.332-3C=) c.323-3C= (n.323-3C=) c.314-3C= (n.314-3C=) c.185-3C= (n.185-3C=) n.69+2226G= | |
| 17 | g.8122041G>A | CA2635938747 | HES7 | c.227-4C>T (n.227-4C>T) c.227-19C>T (n.227-19C>T) c.203-4C>T (n.203-4C>T) c.332-4C>T (n.332-4C>T) c.323-4C>T (n.323-4C>T) c.314-4C>T (n.314-4C>T) c.185-4C>T (n.185-4C>T) n.69+2227G>A | gnomAD v4 |
| 17 | g.8122041G>T | CA2576161676 | HES7 | c.227-4C>A (n.227-4C>A) c.227-19C>A (n.227-19C>A) c.203-4C>A (n.203-4C>A) c.332-4C>A (n.332-4C>A) c.323-4C>A (n.323-4C>A) c.314-4C>A (n.314-4C>A) c.185-4C>A (n.185-4C>A) n.69+2227G>T | gnomAD v4 |
| 17 | g.8122042T>C | CA2246160962 | HES7 | c.227-5A>G (n.227-5A>G) c.227-20A>G (n.227-20A>G) c.203-5A>G (n.203-5A>G) c.332-5A>G (n.332-5A>G) c.323-5A>G (n.323-5A>G) c.314-5A>G (n.314-5A>G) c.185-5A>G (n.185-5A>G) n.69+2228T>C | dbSNP gnomAD v4 |
| 17 | g.8122042T= | CA2246160961 | HES7 | c.227-5A= (n.227-5A=) c.227-20A= (n.227-20A=) c.203-5A= (n.203-5A=) c.332-5A= (n.332-5A=) c.323-5A= (n.323-5A=) c.314-5A= (n.314-5A=) c.185-5A= (n.185-5A=) n.69+2228T= | |
| 17 | g.8122043G>A | CA2635938751 | HES7 | c.227-6C>T (n.227-6C>T) c.227-21C>T (n.227-21C>T) c.203-6C>T (n.203-6C>T) c.332-6C>T (n.332-6C>T) c.323-6C>T (n.323-6C>T) c.314-6C>T (n.314-6C>T) c.185-6C>T (n.185-6C>T) n.69+2229G>A | gnomAD v4 |
| 17 | g.8122044C>A | CA624868623 | HES7 | c.227-7G>T (n.227-7G>T) c.227-22G>T (n.227-22G>T) c.203-7G>T (n.203-7G>T) c.332-7G>T (n.332-7G>T) c.323-7G>T (n.323-7G>T) c.314-7G>T (n.314-7G>T) c.185-7G>T (n.185-7G>T) n.69+2230C>A | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.8122044C= | CA2246160965 | HES7 | c.227-7G= (n.227-7G=) c.227-22G= (n.227-22G=) c.203-7G= (n.203-7G=) c.332-7G= (n.332-7G=) c.323-7G= (n.323-7G=) c.314-7G= (n.314-7G=) c.185-7G= (n.185-7G=) n.69+2230C= | |
| 17 | g.8122044C>G | CA2635938757 | HES7 | c.227-7G>C (n.227-7G>C) c.227-22G>C (n.227-22G>C) c.203-7G>C (n.203-7G>C) c.332-7G>C (n.332-7G>C) c.323-7G>C (n.323-7G>C) c.314-7G>C (n.314-7G>C) c.185-7G>C (n.185-7G>C) n.69+2230C>G | gnomAD v4 |
| 17 | g.8122044C>T | CA775624138 | HES7 | c.227-7G>A (n.227-7G>A) c.227-22G>A (n.227-22G>A) c.203-7G>A (n.203-7G>A) c.332-7G>A (n.332-7G>A) c.323-7G>A (n.323-7G>A) c.314-7G>A (n.314-7G>A) c.185-7G>A (n.185-7G>A) n.69+2230C>T | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8122044_8122068delinsCGGCCGGCGGGAGCACAGGTGGGCA | CA2246160966 | HES7 | c.227-31_227-7delinsTGCCCACCTGTGCTCCCGCCGGCCG (n.227-31_227-7delinsTGCCCACCTGTGCTCCCGCCGGCCG) c.227-46_227-22delinsTGCCCACCTGTGCTCCCGCCGGCCG (n.227-46_227-22delinsTGCCCACCTGTGCTCCCGCCGGCCG) c.203-31_203-7delinsTGCCCACCTGTGCTCCCGCCGGCCG (n.203-31_203-7delinsTGCCCACCTGTGCTCCCGCCGGCCG) c.332-31_332-7delinsTGCCCACCTGTGCTCCCGCCGGCCG (n.332-31_332-7delinsTGCCCACCTGTGCTCCCGCCGGCCG) c.323-31_323-7delinsTGCCCACCTGTGCTCCCGCCGGCCG (n.323-31_323-7delinsTGCCCACCTGTGCTCCCGCCGGCCG) c.314-31_314-7delinsTGCCCACCTGTGCTCCCGCCGGCCG (n.314-31_314-7delinsTGCCCACCTGTGCTCCCGCCGGCCG) c.185-31_185-7delinsTGCCCACCTGTGCTCCCGCCGGCCG (n.185-31_185-7delinsTGCCCACCTGTGCTCCCGCCGGCCG) n.69+2230_69+2254delinsCGGCCGGCGGGAGCACAGGTGGGCA | |
| 17 | g.8122045G>A | CA624868624 | HES7 | c.227-8C>T (n.227-8C>T) c.227-23C>T (n.227-23C>T) c.203-8C>T (n.203-8C>T) c.332-8C>T (n.332-8C>T) c.323-8C>T (n.323-8C>T) c.314-8C>T (n.314-8C>T) c.185-8C>T (n.185-8C>T) n.69+2231G>A | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.8122045G= | CA2246160971 | HES7 | c.227-8C= (n.227-8C=) c.227-23C= (n.227-23C=) c.203-8C= (n.203-8C=) c.332-8C= (n.332-8C=) c.323-8C= (n.323-8C=) c.314-8C= (n.314-8C=) c.185-8C= (n.185-8C=) n.69+2231G= | |
| 17 | g.8122045G>T | CA2246160972 | HES7 | c.227-8C>A (n.227-8C>A) c.227-23C>A (n.227-23C>A) c.203-8C>A (n.203-8C>A) c.332-8C>A (n.332-8C>A) c.323-8C>A (n.323-8C>A) c.314-8C>A (n.314-8C>A) c.185-8C>A (n.185-8C>A) n.69+2231G>T | dbSNP gnomAD v4 |
| 17 | g.8122047_8122070del | CA775624143 | HES7 | c.227-31_227-8del (n.227-31_227-8del) c.227-46_227-23del (n.227-46_227-23del) c.203-31_203-8del (n.203-31_203-8del) c.332-31_332-8del (n.332-31_332-8del) c.323-31_323-8del (n.323-31_323-8del) c.314-31_314-8del (n.314-31_314-8del) c.185-31_185-8del (n.185-31_185-8del) n.69+2233_69+2256del | dbSNP |
| 17 | g.8122046G>A | CA981238624 | HES7 | c.227-9C>T (n.227-9C>T) c.227-24C>T (n.227-24C>T) c.203-9C>T (n.203-9C>T) c.332-9C>T (n.332-9C>T) c.323-9C>T (n.323-9C>T) c.314-9C>T (n.314-9C>T) c.185-9C>T (n.185-9C>T) n.69+2232G>A | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8122046G= | CA2246160976 | HES7 | c.227-9C= (n.227-9C=) c.227-24C= (n.227-24C=) c.203-9C= (n.203-9C=) c.332-9C= (n.332-9C=) c.323-9C= (n.323-9C=) c.314-9C= (n.314-9C=) c.185-9C= (n.185-9C=) n.69+2232G= | |
| 17 | g.8122046G>T | CA2635938764 | HES7 | c.227-9C>A (n.227-9C>A) c.227-24C>A (n.227-24C>A) c.203-9C>A (n.203-9C>A) c.332-9C>A (n.332-9C>A) c.323-9C>A (n.323-9C>A) c.314-9C>A (n.314-9C>A) c.185-9C>A (n.185-9C>A) n.69+2232G>T | gnomAD v4 |
| 17 | g.8122047C>A | CA2576161677 | HES7 | c.227-10G>T (n.227-10G>T) c.227-25G>T (n.227-25G>T) c.203-10G>T (n.203-10G>T) c.332-10G>T (n.332-10G>T) c.323-10G>T (n.323-10G>T) c.314-10G>T (n.314-10G>T) c.185-10G>T (n.185-10G>T) n.69+2233C>A | gnomAD v4 |
| 17 | g.8122047C>T | CA2635938768 | HES7 | c.227-10G>A (n.227-10G>A) c.227-25G>A (n.227-25G>A) c.203-10G>A (n.203-10G>A) c.332-10G>A (n.332-10G>A) c.323-10G>A (n.323-10G>A) c.314-10G>A (n.314-10G>A) c.185-10G>A (n.185-10G>A) n.69+2233C>T | dbSNP gnomAD v4 |
| 17 | g.8122048C>A | CA2576161678 | HES7 | c.227-11G>T (n.227-11G>T) c.227-26G>T (n.227-26G>T) c.203-11G>T (n.203-11G>T) c.332-11G>T (n.332-11G>T) c.323-11G>T (n.323-11G>T) c.314-11G>T (n.314-11G>T) c.185-11G>T (n.185-11G>T) n.69+2234C>A | gnomAD v4 |
| 17 | g.8122048C= | CA2246160978 | HES7 | c.227-11G= (n.227-11G=) c.227-26G= (n.227-26G=) c.203-11G= (n.203-11G=) c.332-11G= (n.332-11G=) c.323-11G= (n.323-11G=) c.314-11G= (n.314-11G=) c.185-11G= (n.185-11G=) n.69+2234C= | |
| 17 | g.8122048C>G | CA2246160979 | HES7 | c.227-11G>C (n.227-11G>C) c.227-26G>C (n.227-26G>C) c.203-11G>C (n.203-11G>C) c.332-11G>C (n.332-11G>C) c.323-11G>C (n.323-11G>C) c.314-11G>C (n.314-11G>C) c.185-11G>C (n.185-11G>C) n.69+2234C>G | dbSNP gnomAD v4 |
| 17 | g.8122048C>T | CA2246160980 | HES7 | c.227-11G>A (n.227-11G>A) c.227-26G>A (n.227-26G>A) c.203-11G>A (n.203-11G>A) c.332-11G>A (n.332-11G>A) c.323-11G>A (n.323-11G>A) c.314-11G>A (n.314-11G>A) c.185-11G>A (n.185-11G>A) n.69+2234C>T | dbSNP |
| 17 | g.8122049G>A | CA8368673 | HES7 | c.227-12C>T (n.227-12C>T) c.227-27C>T (n.227-27C>T) c.203-12C>T (n.203-12C>T) c.332-12C>T (n.332-12C>T) c.323-12C>T (n.323-12C>T) c.314-12C>T (n.314-12C>T) c.185-12C>T (n.185-12C>T) n.69+2235G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8122049G>C | CA775624146 | HES7 | c.227-12C>G (n.227-12C>G) c.227-27C>G (n.227-27C>G) c.203-12C>G (n.203-12C>G) c.332-12C>G (n.332-12C>G) c.323-12C>G (n.323-12C>G) c.314-12C>G (n.314-12C>G) c.185-12C>G (n.185-12C>G) n.69+2235G>C | dbSNP gnomAD v4 |
| 17 | g.8122049G= | CA2246160985 | HES7 | c.227-12C= (n.227-12C=) c.227-27C= (n.227-27C=) c.203-12C= (n.203-12C=) c.332-12C= (n.332-12C=) c.323-12C= (n.323-12C=) c.314-12C= (n.314-12C=) c.185-12C= (n.185-12C=) n.69+2235G= | |
| 17 | g.8122049G>T | CA2635938772 | HES7 | c.227-12C>A (n.227-12C>A) c.227-27C>A (n.227-27C>A) c.203-12C>A (n.203-12C>A) c.332-12C>A (n.332-12C>A) c.323-12C>A (n.323-12C>A) c.314-12C>A (n.314-12C>A) c.185-12C>A (n.185-12C>A) n.69+2235G>T | gnomAD v4 |
| 17 | g.8122050G>A | CA2635938773 | HES7 | c.227-13C>T (n.227-13C>T) c.227-28C>T (n.227-28C>T) c.203-13C>T (n.203-13C>T) c.332-13C>T (n.332-13C>T) c.323-13C>T (n.323-13C>T) c.314-13C>T (n.314-13C>T) c.185-13C>T (n.185-13C>T) n.69+2236G>A | gnomAD v4 |
| 17 | g.8122050G>T | CA2635938774 | HES7 | c.227-13C>A (n.227-13C>A) c.227-28C>A (n.227-28C>A) c.203-13C>A (n.203-13C>A) c.332-13C>A (n.332-13C>A) c.323-13C>A (n.323-13C>A) c.314-13C>A (n.314-13C>A) c.185-13C>A (n.185-13C>A) n.69+2236G>T | gnomAD v4 |
| 17 | g.8122051C>A | CA2635938779 | HES7 | c.227-14G>T (n.227-14G>T) c.227-29G>T (n.227-29G>T) c.203-14G>T (n.203-14G>T) c.332-14G>T (n.332-14G>T) c.323-14G>T (n.323-14G>T) c.314-14G>T (n.314-14G>T) c.185-14G>T (n.185-14G>T) n.69+2237C>A | gnomAD v4 |
| 17 | g.8122051C>G | CA2635938782 | HES7 | c.227-14G>C (n.227-14G>C) c.227-29G>C (n.227-29G>C) c.203-14G>C (n.203-14G>C) c.332-14G>C (n.332-14G>C) c.323-14G>C (n.323-14G>C) c.314-14G>C (n.314-14G>C) c.185-14G>C (n.185-14G>C) n.69+2237C>G | gnomAD v4 |
| 17 | g.8122051C>T | CA2635938776 | HES7 | c.227-14G>A (n.227-14G>A) c.227-29G>A (n.227-29G>A) c.203-14G>A (n.203-14G>A) c.332-14G>A (n.332-14G>A) c.323-14G>A (n.323-14G>A) c.314-14G>A (n.314-14G>A) c.185-14G>A (n.185-14G>A) n.69+2237C>T | gnomAD v4 |