OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.66715858A>C | CA381484156 | SPTBN2 | c.281T>G (p.Leu94Arg) c.302T>G (p.Leu101Arg) n.808T>G | |
| 11 | g.66715858A>G | CA381484158 | SPTBN2 | c.281T>C (p.Leu94Pro) c.302T>C (p.Leu101Pro) n.808T>C | |
| 11 | g.66715858A>T | CA381484160 | SPTBN2 | c.281T>A (p.Leu94His) c.302T>A (p.Leu101His) n.808T>A | |
| 11 | g.66715859G>A | CA381484162 | SPTBN2 | c.280C>T (p.Leu94Phe) c.301C>T (p.Leu101Phe) n.807C>T | ClinVar |
| 11 | g.66715859G>C | CA381484163 | SPTBN2 | c.280C>G (p.Leu94Val) c.301C>G (p.Leu101Val) n.807C>G | |
| 11 | g.66715859G>T | CA381484165 | SPTBN2 | c.280C>A (p.Leu94Ile) c.301C>A (p.Leu101Ile) n.807C>A | |
| 11 | g.66715860C>A | CA381484167 | SPTBN2 | c.279G>T (p.Arg93Ser) c.300G>T (p.Arg100Ser) n.806G>T | gnomAD v4 |
| 11 | g.66715860C= | CA1979846013 | SPTBN2 | c.279G= (p.Arg93=) c.300G= (p.Arg100=) n.806G= | |
| 11 | g.66715860C>G | CA6129717 | SPTBN2 | c.279G>C (p.Arg93Ser) c.300G>C (p.Arg100Ser) n.806G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66715860C>T | CA475375243 | SPTBN2 | c.279G>A (p.Arg93=) c.300G>A (p.Arg100=) n.806G>A | |
| 11 | g.66715861C>A | CA381484169 | SPTBN2 | c.278G>T (p.Arg93Met) c.299G>T (p.Arg100Met) n.805G>T | |
| 11 | g.66715861C>G | CA381484171 | SPTBN2 | c.278G>C (p.Arg93Thr) c.299G>C (p.Arg100Thr) n.805G>C | |
| 11 | g.66715861C>T | CA381484173 | SPTBN2 | c.278G>A (p.Arg93Lys) c.299G>A (p.Arg100Lys) n.805G>A | |
| 11 | g.66715862T>A | CA381484175 | SPTBN2 | c.277A>T (p.Arg93Trp) c.298A>T (p.Arg100Trp) n.804A>T | |
| 11 | g.66715862T>C | CA381484177 | SPTBN2 | c.277A>G (p.Arg93Gly) c.298A>G (p.Arg100Gly) n.804A>G | |
| 11 | g.66715862T>G | CA475375244 | SPTBN2 | c.277A>C (p.Arg93=) c.298A>C (p.Arg100=) n.804A>C | dbSNP gnomAD v4 |
| 11 | g.66715862T= | CA1979846026 | SPTBN2 | c.277A= (p.Arg93=) c.298A= (p.Arg100=) n.804A= | |
| 11 | g.66715863C>A | CA475375248 | SPTBN2 | c.276G>T (p.Leu92=) c.297G>T (p.Leu99=) n.803G>T | |
| 11 | g.66715863C>G | CA475375247 | SPTBN2 | c.276G>C (p.Leu92=) c.297G>C (p.Leu99=) n.803G>C | |
| 11 | g.66715863C>T | CA475375249 | SPTBN2 | c.276G>A (p.Leu92=) c.297G>A (p.Leu99=) n.803G>A | |
| 11 | g.66715864A>C | CA381484179 | SPTBN2 | c.275T>G (p.Leu92Arg) c.296T>G (p.Leu99Arg) n.802T>G | |
| 11 | g.66715864A>G | CA381484180 | SPTBN2 | c.275T>C (p.Leu92Pro) c.296T>C (p.Leu99Pro) n.802T>C | |
| 11 | g.66715864A>T | CA381484182 | SPTBN2 | c.275T>A (p.Leu92Gln) c.296T>A (p.Leu99Gln) n.802T>A | |
| 11 | g.66715865G>A | CA475375250 | SPTBN2 | c.274C>T (p.Leu92=) c.295C>T (p.Leu99=) n.801C>T | |
| 11 | g.66715865G>C | CA381484183 | SPTBN2 | c.274C>G (p.Leu92Val) c.295C>G (p.Leu99Val) n.801C>G | |
| 11 | g.66715865G>T | CA381484185 | SPTBN2 | c.274C>A (p.Leu92Met) c.295C>A (p.Leu99Met) n.801C>A | |
| 11 | g.66715866C>A | CA475375251 | SPTBN2 | c.273G>T (p.Leu91=) c.294G>T (p.Leu98=) n.800G>T | |
| 11 | g.66715866C= | CA1979846033 | SPTBN2 | c.273G= (p.Leu91=) c.294G= (p.Leu98=) n.800G= | |
| 11 | g.66715866C>G | CA6129719 | SPTBN2 | c.273G>C (p.Leu91=) c.294G>C (p.Leu98=) n.800G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.66715866C>T | CA6129718 | SPTBN2 | c.273G>A (p.Leu91=) c.294G>A (p.Leu98=) n.800G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.66715867A>C | CA381484188 | SPTBN2 | c.272T>G (p.Leu91Arg) c.293T>G (p.Leu98Arg) n.799T>G | |
| 11 | g.66715867A>G | CA381484189 | SPTBN2 | c.272T>C (p.Leu91Pro) c.293T>C (p.Leu98Pro) n.799T>C | |
| 11 | g.66715867A>T | CA381484190 | SPTBN2 | c.272T>A (p.Leu91Gln) c.293T>A (p.Leu98Gln) n.799T>A | |
| 11 | g.66715868G>A | CA475375252 | SPTBN2 | c.271C>T (p.Leu91=) c.292C>T (p.Leu98=) n.798C>T | |
| 11 | g.66715868G>C | CA381484191 | SPTBN2 | c.271C>G (p.Leu91Val) c.292C>G (p.Leu98Val) n.798C>G | |
| 11 | g.66715868G>T | CA381484193 | SPTBN2 | c.271C>A (p.Leu91Met) c.292C>A (p.Leu98Met) n.798C>A | gnomAD v4 |
| 11 | g.66715869G>A | CA475375253 | SPTBN2 | c.270C>T (p.Asn90=) c.291C>T (p.Asn97=) n.797C>T | |
| 11 | g.66715869G>C | CA381484195 | SPTBN2 | c.270C>G (p.Asn90Lys) c.291C>G (p.Asn97Lys) n.797C>G | |
| 11 | g.66715869G>T | CA381484196 | SPTBN2 | c.270C>A (p.Asn90Lys) c.291C>A (p.Asn97Lys) n.797C>A | |
| 11 | g.66715870T>A | CA381484201 | SPTBN2 | c.269A>T (p.Asn90Ile) c.290A>T (p.Asn97Ile) n.796A>T | |
| 11 | g.66715870T>C | CA6129720 | SPTBN2 | c.269A>G (p.Asn90Ser) c.290A>G (p.Asn97Ser) n.796A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.66715870T>G | CA381484199 | SPTBN2 | c.269A>C (p.Asn90Thr) c.290A>C (p.Asn97Thr) n.796A>C | |
| 11 | g.66715870T= | CA1979846034 | SPTBN2 | c.269A= (p.Asn90=) c.290A= (p.Asn97=) n.796A= | |
| 11 | g.66715871T>A | CA381484204 | SPTBN2 | c.268A>T (p.Asn90Tyr) c.289A>T (p.Asn97Tyr) n.795A>T | |
| 11 | g.66715871T>C | CA381484202 | SPTBN2 | c.268A>G (p.Asn90Asp) c.289A>G (p.Asn97Asp) n.795A>G | |
| 11 | g.66715871T>G | CA381484205 | SPTBN2 | c.268A>C (p.Asn90His) c.289A>C (p.Asn97His) n.795A>C | |
| 11 | g.66715872G>A | CA475375255 | SPTBN2 | c.267C>T (p.Arg89=) c.288C>T (p.Arg96=) n.794C>T | |
| 11 | g.66715872G>C | CA475375256 | SPTBN2 | c.267C>G (p.Arg89=) c.288C>G (p.Arg96=) n.794C>G | |
| 11 | g.66715872G>T | CA475375257 | SPTBN2 | c.267C>A (p.Arg89=) c.288C>A (p.Arg96=) n.794C>A | |
| 11 | g.66715873C>A | CA6129722 | SPTBN2 | c.266G>T (p.Arg89Leu) c.287G>T (p.Arg96Leu) n.793G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66715873C= | CA1979846038 | SPTBN2 | c.266G= (p.Arg89=) c.287G= (p.Arg96=) n.793G= | |
| 11 | g.66715873C>G | CA381484209 | SPTBN2 | c.266G>C (p.Arg89Pro) c.287G>C (p.Arg96Pro) n.793G>C | COSMIC COSMIC |
| 11 | g.66715873C>T | CA6129721 | SPTBN2 | c.266G>A (p.Arg89His) c.287G>A (p.Arg96His) n.793G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.66715874G>A | CA381484210 | SPTBN2 | c.265C>T (p.Arg89Cys) c.286C>T (p.Arg96Cys) n.792C>T | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 11 | g.66715874G>C | CA381484211 | SPTBN2 | c.265C>G (p.Arg89Gly) c.286C>G (p.Arg96Gly) n.792C>G | |
| 11 | g.66715874G= | CA1979846044 | SPTBN2 | c.265C= (p.Arg89=) c.286C= (p.Arg96=) n.792C= | |
| 11 | g.66715874G>T | CA381484213 | SPTBN2 | c.265C>A (p.Arg89Ser) c.286C>A (p.Arg96Ser) n.792C>A | COSMIC COSMIC |
| 11 | g.66715875T>A | CA475375258 | SPTBN2 | c.264A>T (p.Gly88=) c.285A>T (p.Gly95=) n.791A>T | |
| 11 | g.66715875T>C | CA224096997 | SPTBN2 | c.264A>G (p.Gly88=) c.285A>G (p.Gly95=) n.791A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66715875T>G | CA475375259 | SPTBN2 | c.264A>C (p.Gly88=) c.285A>C (p.Gly95=) n.791A>C | |
| 11 | g.66715875T= | CA1979846058 | SPTBN2 | c.264A= (p.Gly88=) c.285A= (p.Gly95=) n.791A= | |
| 11 | g.66715876C>A | CA381484214 | SPTBN2 | c.263G>T (p.Gly88Val) c.284G>T (p.Gly95Val) n.790G>T | |
| 11 | g.66715876C>G | CA381484216 | SPTBN2 | c.263G>C (p.Gly88Ala) c.284G>C (p.Gly95Ala) n.790G>C | |
| 11 | g.66715876C>T | CA381484217 | SPTBN2 | c.263G>A (p.Gly88Glu) c.284G>A (p.Gly95Glu) n.790G>A | |
| 11 | g.66715876_66715877delinsAA | CA645580847 | SPTBN2 | c.262_263delinsTT (p.Gly88Leu) c.283_284delinsTT (p.Gly95Leu) n.789_790delinsTT | COSMIC COSMIC |
| 11 | g.66715877C>A | CA381484219 | SPTBN2 | c.262G>T (p.Gly88Ter) c.283G>T (p.Gly95Ter) n.789G>T | |
| 11 | g.66715877C>G | CA381484221 | SPTBN2 | c.262G>C (p.Gly88Arg) c.283G>C (p.Gly95Arg) n.789G>C | |
| 11 | g.66715877C>T | CA381484222 | SPTBN2 | c.262G>A (p.Gly88Arg) c.283G>A (p.Gly95Arg) n.789G>A | gnomAD v4 |
| 11 | g.66715878G>A | CA6129723 | SPTBN2 | c.261C>T (p.Asp87=) c.282C>T (p.Asp94=) n.788C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66715878G>C | CA381484225 | SPTBN2 | c.261C>G (p.Asp87Glu) c.282C>G (p.Asp94Glu) n.788C>G | |
| 11 | g.66715878G= | CA1979846067 | SPTBN2 | c.261C= (p.Asp87=) c.282C= (p.Asp94=) n.788C= | |
| 11 | g.66715878G>T | CA381484227 | SPTBN2 | c.261C>A (p.Asp87Glu) c.282C>A (p.Asp94Glu) n.788C>A | |
| 11 | g.66715879T>A | CA381484232 | SPTBN2 | c.260A>T (p.Asp87Val) c.281A>T (p.Asp94Val) n.787A>T | |
| 11 | g.66715879T>C | CA381484229 | SPTBN2 | c.260A>G (p.Asp87Gly) c.281A>G (p.Asp94Gly) n.787A>G | |
| 11 | g.66715879T>G | CA381484231 | SPTBN2 | c.260A>C (p.Asp87Ala) c.281A>C (p.Asp94Ala) n.787A>C | |
| 11 | g.66715880C>A | CA381484234 | SPTBN2 | c.259G>T (p.Asp87Tyr) c.280G>T (p.Asp94Tyr) n.786G>T | |
| 11 | g.66715880C>G | CA381484235 | SPTBN2 | c.259G>C (p.Asp87His) c.280G>C (p.Asp94His) n.786G>C | |
| 11 | g.66715880C>T | CA381484236 | SPTBN2 | c.259G>A (p.Asp87Asn) c.280G>A (p.Asp94Asn) n.786G>A | |
| 11 | g.66715881C>A | CA475375264 | SPTBN2 | c.258G>T (p.Arg86=) c.279G>T (p.Arg93=) n.785G>T | |
| 11 | g.66715881C= | CA1979846069 | SPTBN2 | c.258G= (p.Arg86=) c.279G= (p.Arg93=) n.785G= | |
| 11 | g.66715881C>G | CA475375263 | SPTBN2 | c.258G>C (p.Arg86=) c.279G>C (p.Arg93=) n.785G>C | |
| 11 | g.66715881C>T | CA475375262 | SPTBN2 | c.258G>A (p.Arg86=) c.279G>A (p.Arg93=) n.785G>A | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.66715882C>A | CA381484237 | SPTBN2 | c.257G>T (p.Arg86Leu) c.278G>T (p.Arg93Leu) n.784G>T | |
| 11 | g.66715882C= | CA1979846072 | SPTBN2 | c.257G= (p.Arg86=) c.278G= (p.Arg93=) n.784G= | |
| 11 | g.66715882C>G | CA381484238 | SPTBN2 | c.257G>C (p.Arg86Pro) c.278G>C (p.Arg93Pro) n.784G>C | |
| 11 | g.66715882C>T | CA6129724 | SPTBN2 | c.257G>A (p.Arg86Gln) c.278G>A (p.Arg93Gln) n.784G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.66715883G>A | CA6129725 | SPTBN2 | c.256C>T (p.Arg86Trp) c.277C>T (p.Arg93Trp) n.783C>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 11 | g.66715883G>C | CA381484239 | SPTBN2 | c.256C>G (p.Arg86Gly) c.277C>G (p.Arg93Gly) n.783C>G | |
| 11 | g.66715883G= | CA1979846076 | SPTBN2 | c.256C= (p.Arg86=) c.277C= (p.Arg93=) n.783C= | |
| 11 | g.66715883G>T | CA475375270 | SPTBN2 | c.256C>A (p.Arg86=) c.277C>A (p.Arg93=) n.783C>A | dbSNP |
| 11 | g.66715884G>A | CA475375271 | SPTBN2 | c.255C>T (p.Leu85=) c.276C>T (p.Leu92=) n.782C>T | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.66715884G>C | CA475375272 | SPTBN2 | c.255C>G (p.Leu85=) c.276C>G (p.Leu92=) n.782C>G | |
| 11 | g.66715884G= | CA1979846081 | SPTBN2 | c.255C= (p.Leu85=) c.276C= (p.Leu92=) n.782C= | |
| 11 | g.66715884G>T | CA475375273 | SPTBN2 | c.255C>A (p.Leu85=) c.276C>A (p.Leu92=) n.782C>A | |
| 11 | g.66715885A>C | CA381484240 | SPTBN2 | c.254T>G (p.Leu85Arg) c.275T>G (p.Leu92Arg) n.781T>G | |
| 11 | g.66715885A>G | CA381484241 | SPTBN2 | c.254T>C (p.Leu85Pro) c.275T>C (p.Leu92Pro) n.781T>C | ClinVar |
| 11 | g.66715885A>T | CA381484243 | SPTBN2 | c.254T>A (p.Leu85His) c.275T>A (p.Leu92His) n.781T>A | |
| 11 | g.66715886G>A | CA381484246 | SPTBN2 | c.253C>T (p.Leu85Phe) c.274C>T (p.Leu92Phe) n.780C>T | |
| 11 | g.66715886G>C | CA381484245 | SPTBN2 | c.253C>G (p.Leu85Val) c.274C>G (p.Leu92Val) n.780C>G | |
| 11 | g.66715886G>T | CA381484244 | SPTBN2 | c.253C>A (p.Leu85Ile) c.274C>A (p.Leu92Ile) n.780C>A | |
| 11 | g.66715887G>A | CA475375274 | SPTBN2 | c.252C>T (p.Asp84=) c.273C>T (p.Asp91=) n.779C>T | |
| 11 | g.66715887G>C | CA381484247 | SPTBN2 | c.252C>G (p.Asp84Glu) c.273C>G (p.Asp91Glu) n.779C>G | |
| 11 | g.66715887G>T | CA381484248 | SPTBN2 | c.252C>A (p.Asp84Glu) c.273C>A (p.Asp91Glu) n.779C>A | gnomAD v3 gnomAD v4 |
| 11 | g.66715888T>A | CA381484249 | SPTBN2 | c.251A>T (p.Asp84Val) c.272A>T (p.Asp91Val) n.778A>T | |
| 11 | g.66715888T>C | CA381484250 | SPTBN2 | c.251A>G (p.Asp84Gly) c.272A>G (p.Asp91Gly) n.778A>G | |
| 11 | g.66715888T>G | CA381484251 | SPTBN2 | c.251A>C (p.Asp84Ala) c.272A>C (p.Asp91Ala) n.778A>C | |
| 11 | g.66715889C>A | CA381484254 | SPTBN2 | c.250G>T (p.Asp84Tyr) c.271G>T (p.Asp91Tyr) n.777G>T | |
| 11 | g.66715889C= | CA1979846088 | SPTBN2 | c.250G= (p.Asp84=) c.271G= (p.Asp91=) n.777G= | |
| 11 | g.66715889C>G | CA381484253 | SPTBN2 | c.250G>C (p.Asp84His) c.271G>C (p.Asp91His) n.777G>C | gnomAD v4 |
| 11 | g.66715889C>T | CA381484252 | SPTBN2 | c.250G>A (p.Asp84Asn) c.271G>A (p.Asp91Asn) n.777G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 11 | g.66715890G>A | CA6129726 | SPTBN2 | c.249C>T (p.Ser83=) c.270C>T (p.Ser90=) n.776C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66715890G>C | CA381484255 | SPTBN2 | c.249C>G (p.Ser83Arg) c.270C>G (p.Ser90Arg) n.776C>G | |
| 11 | g.66715890G= | CA1979846102 | SPTBN2 | c.249C= (p.Ser83=) c.270C= (p.Ser90=) n.776C= | |
| 11 | g.66715890G>T | CA381484256 | SPTBN2 | c.249C>A (p.Ser83Arg) c.270C>A (p.Ser90Arg) n.776C>A | |
| 11 | g.66715891C>A | CA381484257 | SPTBN2 | c.248G>T (p.Ser83Ile) c.269G>T (p.Ser90Ile) n.775G>T | |
| 11 | g.66715891C>G | CA381484258 | SPTBN2 | c.248G>C (p.Ser83Thr) c.269G>C (p.Ser90Thr) n.775G>C | |
| 11 | g.66715891C>T | CA381484259 | SPTBN2 | c.248G>A (p.Ser83Asn) c.269G>A (p.Ser90Asn) n.775G>A | |
| 11 | g.66715892T>A | CA381484260 | SPTBN2 | c.247A>T (p.Ser83Cys) c.268A>T (p.Ser90Cys) n.774A>T | |
| 11 | g.66715892T>C | CA6129727 | SPTBN2 | c.247A>G (p.Ser83Gly) c.268A>G (p.Ser90Gly) n.774A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66715892T>G | CA381484261 | SPTBN2 | c.247A>C (p.Ser83Arg) c.268A>C (p.Ser90Arg) n.774A>C | |
| 11 | g.66715892T= | CA1979846112 | SPTBN2 | c.247A= (p.Ser83=) c.268A= (p.Ser90=) n.774A= | |
| 11 | g.66715893G>A | CA224097008 | SPTBN2 | c.246C>T (p.Tyr82=) c.267C>T (p.Tyr89=) n.773C>T | dbSNP gnomAD v4 |
| 11 | g.66715893G>C | CA381484262 | SPTBN2 | c.246C>G (p.Tyr82Ter) c.267C>G (p.Tyr89Ter) n.773C>G | |
| 11 | g.66715893G= | CA1979846114 | SPTBN2 | c.246C= (p.Tyr82=) c.267C= (p.Tyr89=) n.773C= | |
| 11 | g.66715893G>T | CA381484263 | SPTBN2 | c.246C>A (p.Tyr82Ter) c.267C>A (p.Tyr89Ter) n.773C>A | |
| 11 | g.66715894T>A | CA381484264 | SPTBN2 | c.245A>T (p.Tyr82Phe) c.266A>T (p.Tyr89Phe) n.772A>T | |
| 11 | g.66715894T>C | CA381484265 | SPTBN2 | c.245A>G (p.Tyr82Cys) c.266A>G (p.Tyr89Cys) n.772A>G | gnomAD v4 COSMIC COSMIC |
| 11 | g.66715894T>G | CA381484266 | SPTBN2 | c.245A>C (p.Tyr82Ser) c.266A>C (p.Tyr89Ser) n.772A>C | |
| 11 | g.66715895A>C | CA381484267 | SPTBN2 | c.244T>G (p.Tyr82Asp) c.265T>G (p.Tyr89Asp) n.771T>G | |
| 11 | g.66715895A>G | CA381484268 | SPTBN2 | c.244T>C (p.Tyr82His) c.265T>C (p.Tyr89His) n.771T>C | |
| 11 | g.66715895A>T | CA381484269 | SPTBN2 | c.244T>A (p.Tyr82Asn) c.265T>A (p.Tyr89Asn) n.771T>A | |
| 11 | g.66715896C>A | CA475375277 | SPTBN2 | c.243G>T (p.Leu81=) c.264G>T (p.Leu88=) n.770G>T | |
| 11 | g.66715896C>G | CA475375276 | SPTBN2 | c.243G>C (p.Leu81=) c.264G>C (p.Leu88=) n.770G>C | |
| 11 | g.66715896C>T | CA475375275 | SPTBN2 | c.243G>A (p.Leu81=) c.264G>A (p.Leu88=) n.770G>A | gnomAD v4 |
| 11 | g.66715897A>C | CA381484270 | SPTBN2 | c.242T>G (p.Leu81Arg) c.263T>G (p.Leu88Arg) n.769T>G | |
| 11 | g.66715897A>G | CA381484271 | SPTBN2 | c.242T>C (p.Leu81Pro) c.263T>C (p.Leu88Pro) n.769T>C | |
| 11 | g.66715897A>T | CA381484272 | SPTBN2 | c.242T>A (p.Leu81Gln) c.263T>A (p.Leu88Gln) n.769T>A | |
| 11 | g.66715898G>A | CA475375278 | SPTBN2 | c.241C>T (p.Leu81=) c.262C>T (p.Leu88=) n.768C>T | |
| 11 | g.66715898G>C | CA381484273 | SPTBN2 | c.241C>G (p.Leu81Val) c.262C>G (p.Leu88Val) n.768C>G | |
| 11 | g.66715898G= | CA1979846119 | SPTBN2 | c.241C= (p.Leu81=) c.262C= (p.Leu88=) n.768C= | |
| 11 | g.66715898G>T | CA224097024 | SPTBN2 | c.241C>A (p.Leu81Met) c.262C>A (p.Leu88Met) n.768C>A | dbSNP gnomAD v4 |
| 11 | g.66715899G>A | CA6129728 | SPTBN2 | c.240C>T (p.Asp80=) c.261C>T (p.Asp87=) n.767C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.66715899G>C | CA381484275 | SPTBN2 | c.240C>G (p.Asp80Glu) c.261C>G (p.Asp87Glu) n.767C>G | |
| 11 | g.66715899G= | CA1979846126 | SPTBN2 | c.240C= (p.Asp80=) c.261C= (p.Asp87=) n.767C= | |
| 11 | g.66715899G>T | CA381484274 | SPTBN2 | c.240C>A (p.Asp80Glu) c.261C>A (p.Asp87Glu) n.767C>A | dbSNP |
| 11 | g.66715900T>A | CA381484276 | SPTBN2 | c.239A>T (p.Asp80Val) c.260A>T (p.Asp87Val) n.766A>T | |
| 11 | g.66715900T>C | CA381484277 | SPTBN2 | c.239A>G (p.Asp80Gly) c.260A>G (p.Asp87Gly) n.766A>G | |
| 11 | g.66715900T>G | CA381484278 | SPTBN2 | c.239A>C (p.Asp80Ala) c.260A>C (p.Asp87Ala) n.766A>C | |
| 11 | g.66715901C>A | CA381484279 | SPTBN2 | c.238G>T (p.Asp80Tyr) c.259G>T (p.Asp87Tyr) n.765G>T | COSMIC COSMIC |
| 11 | g.66715901C= | CA1979846132 | SPTBN2 | c.238G= (p.Asp80=) c.259G= (p.Asp87=) n.765G= | |
| 11 | g.66715901C>G | CA381484280 | SPTBN2 | c.238G>C (p.Asp80His) c.259G>C (p.Asp87His) n.765G>C | |
| 11 | g.66715901C>T | CA6129729 | SPTBN2 | c.238G>A (p.Asp80Asn) c.259G>A (p.Asp87Asn) n.765G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66715902C>A | CA475375279 | SPTBN2 | c.237G>T (p.Gly79=) c.258G>T (p.Gly86=) n.764G>T | |
| 11 | g.66715902C= | CA1979846138 | SPTBN2 | c.237G= (p.Gly79=) c.258G= (p.Gly86=) n.764G= | |
| 11 | g.66715902C>G | CA475375280 | SPTBN2 | c.237G>C (p.Gly79=) c.258G>C (p.Gly86=) n.764G>C | |
| 11 | g.66715902C>T | CA6129730 | SPTBN2 | c.237G>A (p.Gly79=) c.258G>A (p.Gly86=) n.764G>A | dbSNP ExAC gnomAD v2 |
| 11 | g.66715903C>A | CA381484281 | SPTBN2 | c.236G>T (p.Gly79Val) c.257G>T (p.Gly86Val) n.763G>T | |
| 11 | g.66715903C= | CA1979846146 | SPTBN2 | c.236G= (p.Gly79=) c.257G= (p.Gly86=) n.763G= | |
| 11 | g.66715903C>G | CA381484282 | SPTBN2 | c.236G>C (p.Gly79Ala) c.257G>C (p.Gly86Ala) n.763G>C | dbSNP gnomAD v4 |
| 11 | g.66715903C>T | CA381484283 | SPTBN2 | c.236G>A (p.Gly79Glu) c.257G>A (p.Gly86Glu) n.763G>A | |
| 11 | g.66715904C>A | CA381484284 | SPTBN2 | c.235G>T (p.Gly79Trp) c.256G>T (p.Gly86Trp) n.762G>T | |
| 11 | g.66715904C>G | CA381484285 | SPTBN2 | c.235G>C (p.Gly79Arg) c.256G>C (p.Gly86Arg) n.762G>C | |
| 11 | g.66715904C>T | CA381484286 | SPTBN2 | c.235G>A (p.Gly79Arg) c.256G>A (p.Gly86Arg) n.762G>A | |
| 11 | g.66715905C>A | CA475375281 | SPTBN2 | c.234G>T (p.Val78=) c.255G>T (p.Val85=) n.761G>T | dbSNP gnomAD v4 |
| 11 | g.66715905C= | CA1979846152 | SPTBN2 | c.234G= (p.Val78=) c.255G= (p.Val85=) n.761G= | |
| 11 | g.66715905C>G | CA475375282 | SPTBN2 | c.234G>C (p.Val78=) c.255G>C (p.Val85=) n.761G>C | |
| 11 | g.66715905C>T | CA6129731 | SPTBN2 | c.234G>A (p.Val78=) c.255G>A (p.Val85=) n.761G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66715906A>C | CA381484287 | SPTBN2 | c.233T>G (p.Val78Gly) c.254T>G (p.Val85Gly) n.760T>G | |
| 11 | g.66715906A>G | CA381484288 | SPTBN2 | c.233T>C (p.Val78Ala) c.254T>C (p.Val85Ala) n.760T>C | |
| 11 | g.66715906A>T | CA381484289 | SPTBN2 | c.233T>A (p.Val78Glu) c.254T>A (p.Val85Glu) n.760T>A | |
| 11 | g.66715907C>A | CA381484290 | SPTBN2 | c.232G>T (p.Val78Leu) c.253G>T (p.Val85Leu) n.759G>T | |
| 11 | g.66715907C= | CA1979846158 | SPTBN2 | c.232G= (p.Val78=) c.253G= (p.Val85=) n.759G= | |
| 11 | g.66715907C>G | CA381484291 | SPTBN2 | c.232G>C (p.Val78Leu) c.253G>C (p.Val85Leu) n.759G>C | dbSNP |
| 11 | g.66715907C>T | CA6129732 | SPTBN2 | c.232G>A (p.Val78Met) c.253G>A (p.Val85Met) n.759G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66715908C>A | CA475375283 | SPTBN2 | c.231G>T (p.Arg77=) c.252G>T (p.Arg84=) n.758G>T | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.66715908C= | CA1979846171 | SPTBN2 | c.231G= (p.Arg77=) c.252G= (p.Arg84=) n.758G= | |
| 11 | g.66715908C>G | CA475375284 | SPTBN2 | c.231G>C (p.Arg77=) c.252G>C (p.Arg84=) n.758G>C | |
| 11 | g.66715908C>T | CA475375285 | SPTBN2 | c.231G>A (p.Arg77=) c.252G>A (p.Arg84=) n.758G>A | |
| 11 | g.66715909C>A | CA381484292 | SPTBN2 | c.230G>T (p.Arg77Leu) c.251G>T (p.Arg84Leu) n.757G>T | |
| 11 | g.66715909C= | CA1979846175 | SPTBN2 | c.230G= (p.Arg77=) c.251G= (p.Arg84=) n.757G= | |
| 11 | g.66715909C>G | CA381484293 | SPTBN2 | c.230G>C (p.Arg77Pro) c.251G>C (p.Arg84Pro) n.757G>C | |
| 11 | g.66715909C>T | CA6129733 | SPTBN2 | c.230G>A (p.Arg77Gln) c.251G>A (p.Arg84Gln) n.757G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66715910G>A | CA243402 | SPTBN2 | c.229C>T (p.Arg77Trp) c.250C>T (p.Arg84Trp) n.756C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66715910G>C | CA381484294 | SPTBN2 | c.229C>G (p.Arg77Gly) c.250C>G (p.Arg84Gly) n.756C>G | |
| 11 | g.66715910G= | CA1979846178 | SPTBN2 | c.229C= (p.Arg77=) c.250C= (p.Arg84=) n.756C= | |
| 11 | g.66715910G>T | CA6129734 | SPTBN2 | c.229C>A (p.Arg77=) c.250C>A (p.Arg84=) n.756C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.66715911G>A | CA475375286 | SPTBN2 | c.228C>T (p.Cys76=) c.249C>T (p.Cys83=) n.755C>T | |
| 11 | g.66715911G>C | CA381484296 | SPTBN2 | c.228C>G (p.Cys76Trp) c.249C>G (p.Cys83Trp) n.755C>G | |
| 11 | g.66715911G>T | CA381484295 | SPTBN2 | c.228C>A (p.Cys76Ter) c.249C>A (p.Cys83Ter) n.755C>A | |
| 11 | g.66715912C>A | CA381484297 | SPTBN2 | c.227G>T (p.Cys76Phe) c.248G>T (p.Cys83Phe) n.754G>T | |
| 11 | g.66715912C>G | CA381484298 | SPTBN2 | c.227G>C (p.Cys76Ser) c.248G>C (p.Cys83Ser) n.754G>C | |
| 11 | g.66715912C>T | CA381484299 | SPTBN2 | c.227G>A (p.Cys76Tyr) c.248G>A (p.Cys83Tyr) n.754G>A | |
| 11 | g.66715913A= | CA1979846185 | SPTBN2 | c.226T= (p.Cys76=) c.247T= (p.Cys83=) n.753T= | |
| 11 | g.66715913A>C | CA381484300 | SPTBN2 | c.226T>G (p.Cys76Gly) c.247T>G (p.Cys83Gly) n.753T>G | dbSNP gnomAD v4 |
| 11 | g.66715913A>G | CA6129735 | SPTBN2 | c.226T>C (p.Cys76Arg) c.247T>C (p.Cys83Arg) n.753T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.66715913A>T | CA381484301 | SPTBN2 | c.226T>A (p.Cys76Ser) c.247T>A (p.Cys83Ser) n.753T>A | |
| 11 | g.66715914C>A | CA475375287 | SPTBN2 | c.225G>T (p.Thr75=) c.246G>T (p.Thr82=) n.752G>T | |
| 11 | g.66715914C= | CA1979846197 | SPTBN2 | c.225G= (p.Thr75=) c.246G= (p.Thr82=) n.752G= | |
| 11 | g.66715914C>G | CA475375288 | SPTBN2 | c.225G>C (p.Thr75=) c.246G>C (p.Thr82=) n.752G>C | |
| 11 | g.66715914C>T | CA6129736 | SPTBN2 | c.225G>A (p.Thr75=) c.246G>A (p.Thr82=) n.752G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66715915G>A | CA6129737 | SPTBN2 | c.224C>T (p.Thr75Met) c.245C>T (p.Thr82Met) n.751C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.66715915G>C | CA381484302 | SPTBN2 | c.224C>G (p.Thr75Arg) c.245C>G (p.Thr82Arg) n.751C>G | |
| 11 | g.66715915G= | CA1979846213 | SPTBN2 | c.224C= (p.Thr75=) c.245C= (p.Thr82=) n.751C= | |
| 11 | g.66715915G>T | CA381484303 | SPTBN2 | c.224C>A (p.Thr75Lys) c.245C>A (p.Thr82Lys) n.751C>A | |
| 11 | g.66715916T>A | CA381484304 | SPTBN2 | c.223A>T (p.Thr75Ser) c.244A>T (p.Thr82Ser) n.750A>T | |
| 11 | g.66715916T>C | CA381484305 | SPTBN2 | c.223A>G (p.Thr75Ala) c.244A>G (p.Thr82Ala) n.750A>G | |
| 11 | g.66715916T>G | CA381484306 | SPTBN2 | c.223A>C (p.Thr75Pro) c.244A>C (p.Thr82Pro) n.750A>C | gnomAD v4 |
| 11 | g.66715917G>A | CA475375295 | SPTBN2 | c.222C>T (p.Val74=) c.243C>T (p.Val81=) n.749C>T | COSMIC COSMIC |
| 11 | g.66715917G>C | CA475375293 | SPTBN2 | c.222C>G (p.Val74=) c.243C>G (p.Val81=) n.749C>G | |
| 11 | g.66715917G>T | CA475375292 | SPTBN2 | c.222C>A (p.Val74=) c.243C>A (p.Val81=) n.749C>A | |
| 11 | g.66715918A>C | CA381484308 | SPTBN2 | c.221T>G (p.Val74Gly) c.242T>G (p.Val81Gly) n.748T>G | |
| 11 | g.66715918A>G | CA381484309 | SPTBN2 | c.221T>C (p.Val74Ala) c.242T>C (p.Val81Ala) n.748T>C | |
| 11 | g.66715918A>T | CA381484307 | SPTBN2 | c.221T>A (p.Val74Asp) c.242T>A (p.Val81Asp) n.748T>A | |
| 11 | g.66715919C>A | CA381484310 | SPTBN2 | c.220G>T (p.Val74Phe) c.241G>T (p.Val81Phe) n.747G>T | |
| 11 | g.66715919C>G | CA381484311 | SPTBN2 | c.220G>C (p.Val74Leu) c.241G>C (p.Val81Leu) n.747G>C | |
| 11 | g.66715919C>T | CA381484312 | SPTBN2 | c.220G>A (p.Val74Ile) c.241G>A (p.Val81Ile) n.747G>A | |
| 11 | g.66715920C>A | CA475375301 | SPTBN2 | c.219G>T (p.Arg73=) c.240G>T (p.Arg80=) n.746G>T | |
| 11 | g.66715920C>G | CA475375303 | SPTBN2 | c.219G>C (p.Arg73=) c.240G>C (p.Arg80=) n.746G>C | |
| 11 | g.66715920C>T | CA475375304 | SPTBN2 | c.219G>A (p.Arg73=) c.240G>A (p.Arg80=) n.746G>A | |
| 11 | g.66715921C>A | CA381484313 | SPTBN2 | c.218G>T (p.Arg73Leu) c.239G>T (p.Arg80Leu) n.745G>T | |
| 11 | g.66715921C= | CA1979846214 | SPTBN2 | c.218G= (p.Arg73=) c.239G= (p.Arg80=) n.745G= | |
| 11 | g.66715921C>G | CA381484314 | SPTBN2 | c.218G>C (p.Arg73Pro) c.239G>C (p.Arg80Pro) n.745G>C | |
| 11 | g.66715921C>T | CA381484315 | SPTBN2 | c.218G>A (p.Arg73Gln) c.239G>A (p.Arg80Gln) n.745G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66715922G>A | CA6129738 | SPTBN2 | c.217C>T (p.Arg73Trp) c.238C>T (p.Arg80Trp) n.744C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.66715922G>C | CA381484316 | SPTBN2 | c.217C>G (p.Arg73Gly) c.238C>G (p.Arg80Gly) n.744C>G | dbSNP |
| 11 | g.66715922G= | CA1979846216 | SPTBN2 | c.217C= (p.Arg73=) c.238C= (p.Arg80=) n.744C= | |
| 11 | g.66715922G>T | CA475375308 | SPTBN2 | c.217C>A (p.Arg73=) c.238C>A (p.Arg80=) n.744C>A | |
| 11 | g.66715924del | CA2614534281 | SPTBN2 | c.217del (p.Arg73GlyfsTer20) c.238del (p.Arg80GlyfsTer20) n.744del | gnomAD v4 |
| 11 | g.66715923G>A | CA475375312 | SPTBN2 | c.216C>T (p.Ala72=) c.237C>T (p.Ala79=) n.743C>T | |
| 11 | g.66715923G>C | CA475375313 | SPTBN2 | c.216C>G (p.Ala72=) c.237C>G (p.Ala79=) n.743C>G | |
| 11 | g.66715923G>T | CA475375315 | SPTBN2 | c.216C>A (p.Ala72=) c.237C>A (p.Ala79=) n.743C>A | |
| 11 | g.66715924G>A | CA381484317 | SPTBN2 | c.215C>T (p.Ala72Val) c.236C>T (p.Ala79Val) n.742C>T | gnomAD v4 |
| 11 | g.66715924G>C | CA381484318 | SPTBN2 | c.215C>G (p.Ala72Gly) c.236C>G (p.Ala79Gly) n.742C>G | |
| 11 | g.66715924G>T | CA381484319 | SPTBN2 | c.215C>A (p.Ala72Asp) c.236C>A (p.Ala79Asp) n.742C>A | |
| 11 | g.66715925C>A | CA381484320 | SPTBN2 | c.214G>T (p.Ala72Ser) c.235G>T (p.Ala79Ser) n.741G>T | |
| 11 | g.66715925C>G | CA381484321 | SPTBN2 | c.214G>C (p.Ala72Pro) c.235G>C (p.Ala79Pro) n.741G>C | |
| 11 | g.66715925C>T | CA381484322 | SPTBN2 | c.214G>A (p.Ala72Thr) c.235G>A (p.Ala79Thr) n.741G>A | |
| 11 | g.66715926C>A | CA475375321 | SPTBN2 | c.213G>T (p.Leu71=) c.234G>T (p.Leu78=) n.740G>T | |
| 11 | g.66715926C>G | CA475375322 | SPTBN2 | c.213G>C (p.Leu71=) c.234G>C (p.Leu78=) n.740G>C | |
| 11 | g.66715926C>T | CA475375324 | SPTBN2 | c.213G>A (p.Leu71=) c.234G>A (p.Leu78=) n.740G>A | gnomAD v4 |
| 11 | g.66715927A= | CA1979846222 | SPTBN2 | c.212T= (p.Leu71=) c.233T= (p.Leu78=) n.739T= | |
| 11 | g.66715927A>C | CA381484324 | SPTBN2 | c.212T>G (p.Leu71Arg) c.233T>G (p.Leu78Arg) n.739T>G | |
| 11 | g.66715927A>G | CA381484325 | SPTBN2 | c.212T>C (p.Leu71Pro) c.233T>C (p.Leu78Pro) n.739T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66715927A>T | CA381484323 | SPTBN2 | c.212T>A (p.Leu71Gln) c.233T>A (p.Leu78Gln) n.739T>A | |
| 11 | g.66715928G>A | CA475375328 | SPTBN2 | c.211C>T (p.Leu71=) c.232C>T (p.Leu78=) n.738C>T | |
| 11 | g.66715928G>C | CA381484326 | SPTBN2 | c.211C>G (p.Leu71Val) c.232C>G (p.Leu78Val) n.738C>G | |
| 11 | g.66715928G>T | CA381484327 | SPTBN2 | c.211C>A (p.Leu71Met) c.232C>A (p.Leu78Met) n.738C>A | |
| 11 | g.66715929G>A | CA475375331 | SPTBN2 | c.210C>T (p.His70=) c.231C>T (p.His77=) n.737C>T | |
| 11 | g.66715929G>C | CA381484328 | SPTBN2 | c.210C>G (p.His70Gln) c.231C>G (p.His77Gln) n.737C>G | |
| 11 | g.66715929G>T | CA381484329 | SPTBN2 | c.210C>A (p.His70Gln) c.231C>A (p.His77Gln) n.737C>A | |
| 11 | g.66715930T>A | CA381484330 | SPTBN2 | c.209A>T (p.His70Leu) c.230A>T (p.His77Leu) n.736A>T | |
| 11 | g.66715930T>C | CA381484331 | SPTBN2 | c.209A>G (p.His70Arg) c.230A>G (p.His77Arg) n.736A>G | |
| 11 | g.66715930T>G | CA381484332 | SPTBN2 | c.209A>C (p.His70Pro) c.230A>C (p.His77Pro) n.736A>C | dbSNP |
| 11 | g.66715930T= | CA1979846229 | SPTBN2 | c.209A= (p.His70=) c.230A= (p.His77=) n.736A= | |
| 11 | g.66715931G>A | CA381484333 | SPTBN2 | c.208C>T (p.His70Tyr) c.229C>T (p.His77Tyr) n.735C>T | gnomAD v4 |
| 11 | g.66715931G>C | CA381484334 | SPTBN2 | c.208C>G (p.His70Asp) c.229C>G (p.His77Asp) n.735C>G | |
| 11 | g.66715931G>T | CA381484335 | SPTBN2 | c.208C>A (p.His70Asn) c.229C>A (p.His77Asn) n.735C>A | |
| 11 | g.66715932C>A | CA6129739 | SPTBN2 | c.207G>T (p.Ser69=) c.228G>T (p.Ser76=) n.734G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66715932C= | CA1979846243 | SPTBN2 | c.207G= (p.Ser69=) c.228G= (p.Ser76=) n.734G= | |
| 11 | g.66715932C>G | CA475375339 | SPTBN2 | c.207G>C (p.Ser69=) c.228G>C (p.Ser76=) n.734G>C | |
| 11 | g.66715932C>T | CA6129740 | SPTBN2 | c.207G>A (p.Ser69=) c.228G>A (p.Ser76=) n.734G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66715933G>A | CA6129741 | SPTBN2 | c.206C>T (p.Ser69Leu) c.227C>T (p.Ser76Leu) n.733C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.66715933G>C | CA381484336 | SPTBN2 | c.206C>G (p.Ser69Trp) c.227C>G (p.Ser76Trp) n.733C>G | |
| 11 | g.66715933G= | CA1979846251 | SPTBN2 | c.206C= (p.Ser69=) c.227C= (p.Ser76=) n.733C= | |
| 11 | g.66715933G>T | CA381484337 | SPTBN2 | c.206C>A (p.Ser69Ter) c.227C>A (p.Ser76Ter) n.733C>A | |
| 11 | g.66715934A>C | CA381484338 | SPTBN2 | c.205T>G (p.Ser69Ala) c.226T>G (p.Ser76Ala) n.732T>G | |
| 11 | g.66715934A>G | CA381484339 | SPTBN2 | c.205T>C (p.Ser69Pro) c.226T>C (p.Ser76Pro) n.732T>C | |
| 11 | g.66715934A>T | CA381484340 | SPTBN2 | c.205T>A (p.Ser69Thr) c.226T>A (p.Ser76Thr) n.732T>A | |
| 11 | g.66715935G>A | CA6129742 | SPTBN2 | c.204C>T (p.Asn68=) c.225C>T (p.Asn75=) n.731C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66715935G>C | CA381484341 | SPTBN2 | c.204C>G (p.Asn68Lys) c.225C>G (p.Asn75Lys) n.731C>G | |
| 11 | g.66715935G= | CA1979846257 | SPTBN2 | c.204C= (p.Asn68=) c.225C= (p.Asn75=) n.731C= | |
| 11 | g.66715935G>T | CA381484342 | SPTBN2 | c.204C>A (p.Asn68Lys) c.225C>A (p.Asn75Lys) n.731C>A | |
| 11 | g.66715936T>A | CA381484343 | SPTBN2 | c.203A>T (p.Asn68Ile) c.224A>T (p.Asn75Ile) n.730A>T | |
| 11 | g.66715936T>C | CA381484344 | SPTBN2 | c.203A>G (p.Asn68Ser) c.224A>G (p.Asn75Ser) n.730A>G | |
| 11 | g.66715936T>G | CA381484345 | SPTBN2 | c.203A>C (p.Asn68Thr) c.224A>C (p.Asn75Thr) n.730A>C | |
| 11 | g.66715937T>A | CA381484346 | SPTBN2 | c.202A>T (p.Asn68Tyr) c.223A>T (p.Asn75Tyr) n.729A>T | |
| 11 | g.66715937T>C | CA381484347 | SPTBN2 | c.202A>G (p.Asn68Asp) c.223A>G (p.Asn75Asp) n.729A>G | |
| 11 | g.66715937T>G | CA381484348 | SPTBN2 | c.202A>C (p.Asn68His) c.223A>C (p.Asn75His) n.729A>C | |
| 11 | g.66715938T>A | CA475375354 | SPTBN2 | c.201A>T (p.Val67=) c.222A>T (p.Val74=) n.728A>T | |
| 11 | g.66715938T>C | CA475375357 | SPTBN2 | c.201A>G (p.Val67=) c.222A>G (p.Val74=) n.728A>G | |
| 11 | g.66715938T>G | CA475375355 | SPTBN2 | c.201A>C (p.Val67=) c.222A>C (p.Val74=) n.728A>C | |
| 11 | g.66715939A>C | CA381484349 | SPTBN2 | c.200T>G (p.Val67Gly) c.221T>G (p.Val74Gly) n.727T>G | |
| 11 | g.66715939A>G | CA381484350 | SPTBN2 | c.200T>C (p.Val67Ala) c.221T>C (p.Val74Ala) n.727T>C | |
| 11 | g.66715939A>T | CA381484351 | SPTBN2 | c.200T>A (p.Val67Glu) c.221T>A (p.Val74Glu) n.727T>A | |
| 11 | g.66715940C>A | CA381484352 | SPTBN2 | c.199G>T (p.Val67Leu) c.220G>T (p.Val74Leu) n.726G>T | |
| 11 | g.66715940C= | CA1979846261 | SPTBN2 | c.199G= (p.Val67=) c.220G= (p.Val74=) n.726G= | |
| 11 | g.66715940C>G | CA381484353 | SPTBN2 | c.199G>C (p.Val67Leu) c.220G>C (p.Val74Leu) n.726G>C | |
| 11 | g.66715940C>T | CA381484354 | SPTBN2 | c.199G>A (p.Val67Ile) c.220G>A (p.Val74Ile) n.726G>A | dbSNP |
| 11 | g.66715941C>A | CA381484355 | SPTBN2 | c.198G>T (p.Trp66Cys) c.219G>T (p.Trp73Cys) n.725G>T | |
| 11 | g.66715941C>G | CA381484357 | SPTBN2 | c.198G>C (p.Trp66Cys) c.219G>C (p.Trp73Cys) n.725G>C | |
| 11 | g.66715941C>T | CA381484356 | SPTBN2 | c.198G>A (p.Trp66Ter) c.219G>A (p.Trp73Ter) n.725G>A | |
| 11 | g.66715942C>A | CA381484358 | SPTBN2 | c.197G>T (p.Trp66Leu) c.218G>T (p.Trp73Leu) n.724G>T | |
| 11 | g.66715942C>G | CA381484359 | SPTBN2 | c.197G>C (p.Trp66Ser) c.218G>C (p.Trp73Ser) n.724G>C | |
| 11 | g.66715942C>T | CA381484360 | SPTBN2 | c.197G>A (p.Trp66Ter) c.218G>A (p.Trp73Ter) n.724G>A | |
| 11 | g.66715943A>C | CA381484361 | SPTBN2 | c.196T>G (p.Trp66Gly) c.217T>G (p.Trp73Gly) n.723T>G | |
| 11 | g.66715943A>G | CA381484362 | SPTBN2 | c.196T>C (p.Trp66Arg) c.217T>C (p.Trp73Arg) n.723T>C | |
| 11 | g.66715943A>T | CA381484363 | SPTBN2 | c.196T>A (p.Trp66Arg) c.217T>A (p.Trp73Arg) n.723T>A | |
| 11 | g.66715944C>A | CA381484364 | SPTBN2 | c.195G>T (p.Lys65Asn) c.216G>T (p.Lys72Asn) n.722G>T | |
| 11 | g.66715944C>G | CA381484365 | SPTBN2 | c.195G>C (p.Lys65Asn) c.216G>C (p.Lys72Asn) n.722G>C | |
| 11 | g.66715944C>T | CA475375371 | SPTBN2 | c.195G>A (p.Lys65=) c.216G>A (p.Lys72=) n.722G>A | gnomAD v4 |
| 11 | g.66715945T>A | CA381484366 | SPTBN2 | c.194A>T (p.Lys65Met) c.215A>T (p.Lys72Met) n.721A>T | |
| 11 | g.66715945T>C | CA381484367 | SPTBN2 | c.194A>G (p.Lys65Arg) c.215A>G (p.Lys72Arg) n.721A>G | |
| 11 | g.66715945T>G | CA381484368 | SPTBN2 | c.194A>C (p.Lys65Thr) c.215A>C (p.Lys72Thr) n.721A>C | |
| 11 | g.66715946T>A | CA381484371 | SPTBN2 | c.193A>T (p.Lys65Ter) c.214A>T (p.Lys72Ter) n.720A>T | |
| 11 | g.66715946T>C | CA381484370 | SPTBN2 | c.193A>G (p.Lys65Glu) c.214A>G (p.Lys72Glu) n.720A>G | |
| 11 | g.66715946T>G | CA381484369 | SPTBN2 | c.193A>C (p.Lys65Gln) c.214A>C (p.Lys72Gln) n.720A>C | ClinVar dbSNP |
| 11 | g.66715947G>A | CA475375378 | SPTBN2 | c.192C>T (p.Thr64=) c.213C>T (p.Thr71=) n.719C>T | |
| 11 | g.66715947G>C | CA475375380 | SPTBN2 | c.192C>G (p.Thr64=) c.213C>G (p.Thr71=) n.719C>G | |
| 11 | g.66715947G= | CA1979846266 | SPTBN2 | c.192C= (p.Thr64=) c.213C= (p.Thr71=) n.719C= | |
| 11 | g.66715947G>T | CA475375382 | SPTBN2 | c.192C>A (p.Thr64=) c.213C>A (p.Thr71=) n.719C>A | dbSNP gnomAD v4 |
| 11 | g.66715948G>A | CA381484372 | SPTBN2 | c.191C>T (p.Thr64Ile) c.212C>T (p.Thr71Ile) n.718C>T | |
| 11 | g.66715948G>C | CA381484373 | SPTBN2 | c.191C>G (p.Thr64Ser) c.212C>G (p.Thr71Ser) n.718C>G | |
| 11 | g.66715948G>T | CA381484374 | SPTBN2 | c.191C>A (p.Thr64Asn) c.212C>A (p.Thr71Asn) n.718C>A | |
| 11 | g.66715949T>A | CA381484375 | SPTBN2 | c.190A>T (p.Thr64Ser) c.211A>T (p.Thr71Ser) n.717A>T | |
| 11 | g.66715949T>C | CA6129743 | SPTBN2 | c.190A>G (p.Thr64Ala) c.211A>G (p.Thr71Ala) n.717A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.66715949T>G | CA381484376 | SPTBN2 | c.190A>C (p.Thr64Pro) c.211A>C (p.Thr71Pro) n.717A>C | |
| 11 | g.66715949T= | CA1979846273 | SPTBN2 | c.190A= (p.Thr64=) c.211A= (p.Thr71=) n.717A= | |
| 11 | g.66715950G>A | CA475375389 | SPTBN2 | c.189C>T (p.Phe63=) c.210C>T (p.Phe70=) n.716C>T | |
| 11 | g.66715950G>C | CA381484377 | SPTBN2 | c.189C>G (p.Phe63Leu) c.210C>G (p.Phe70Leu) n.716C>G | ClinVar dbSNP |
| 11 | g.66715950G>T | CA381484378 | SPTBN2 | c.189C>A (p.Phe63Leu) c.210C>A (p.Phe70Leu) n.716C>A | |
| 11 | g.66715951A>C | CA381484379 | SPTBN2 | c.188T>G (p.Phe63Cys) c.209T>G (p.Phe70Cys) n.715T>G | |
| 11 | g.66715951A>G | CA381484380 | SPTBN2 | c.188T>C (p.Phe63Ser) c.209T>C (p.Phe70Ser) n.715T>C | |
| 11 | g.66715951A>T | CA381484381 | SPTBN2 | c.188T>A (p.Phe63Tyr) c.209T>A (p.Phe70Tyr) n.715T>A | |
| 11 | g.66715952A>C | CA381484384 | SPTBN2 | c.187T>G (p.Phe63Val) c.208T>G (p.Phe70Val) n.714T>G | |
| 11 | g.66715952A>G | CA381484383 | SPTBN2 | c.187T>C (p.Phe63Leu) c.208T>C (p.Phe70Leu) n.714T>C | |
| 11 | g.66715952A>T | CA381484382 | SPTBN2 | c.187T>A (p.Phe63Ile) c.208T>A (p.Phe70Ile) n.714T>A | |
| 11 | g.66715953G>A | CA475375396 | SPTBN2 | c.186C>T (p.Thr62=) c.207C>T (p.Thr69=) n.713C>T | |
| 11 | g.66715953G>C | CA475375397 | SPTBN2 | c.186C>G (p.Thr62=) c.207C>G (p.Thr69=) n.713C>G | dbSNP |
| 11 | g.66715953G= | CA1979846274 | SPTBN2 | c.186C= (p.Thr62=) c.207C= (p.Thr69=) n.713C= | |
| 11 | g.66715953G>T | CA475375399 | SPTBN2 | c.186C>A (p.Thr62=) c.207C>A (p.Thr69=) n.713C>A | |
| 11 | g.66715954G>A | CA381484385 | SPTBN2 | c.185C>T (p.Thr62Ile) c.206C>T (p.Thr69Ile) n.712C>T | ClinVar |
| 11 | g.66715954G>C | CA381484387 | SPTBN2 | c.185C>G (p.Thr62Ser) c.206C>G (p.Thr69Ser) n.712C>G | |
| 11 | g.66715954G>T | CA381484386 | SPTBN2 | c.185C>A (p.Thr62Asn) c.206C>A (p.Thr69Asn) n.712C>A | ClinVar dbSNP |
| 11 | g.66715955T>A | CA381484388 | SPTBN2 | c.184A>T (p.Thr62Ser) c.205A>T (p.Thr69Ser) n.711A>T | |
| 11 | g.66715955T>C | CA381484389 | SPTBN2 | c.184A>G (p.Thr62Ala) c.205A>G (p.Thr69Ala) n.711A>G | |
| 11 | g.66715955T>G | CA381484390 | SPTBN2 | c.184A>C (p.Thr62Pro) c.205A>C (p.Thr69Pro) n.711A>C | |
| 11 | g.66715956T>A | CA381484391 | SPTBN2 | c.183A>T (p.Lys61Asn) c.204A>T (p.Lys68Asn) n.710A>T | |
| 11 | g.66715956T>C | CA475375406 | SPTBN2 | c.183A>G (p.Lys61=) c.204A>G (p.Lys68=) n.710A>G | |
| 11 | g.66715956T>G | CA381484392 | SPTBN2 | c.183A>C (p.Lys61Asn) c.204A>C (p.Lys68Asn) n.710A>C | |
| 11 | g.66715957T>A | CA381484393 | SPTBN2 | c.182A>T (p.Lys61Ile) c.203A>T (p.Lys68Ile) n.709A>T | |
| 11 | g.66715957T>C | CA381484394 | SPTBN2 | c.182A>G (p.Lys61Arg) c.203A>G (p.Lys68Arg) n.709A>G | |
| 11 | g.66715957T>G | CA381484395 | SPTBN2 | c.182A>C (p.Lys61Thr) c.203A>C (p.Lys68Thr) n.709A>C | |
| 11 | g.66715958T>A | CA381484396 | SPTBN2 | c.181A>T (p.Lys61Ter) c.202A>T (p.Lys68Ter) n.708A>T | |
| 11 | g.66715958T>C | CA205211 | SPTBN2 | c.181A>G (p.Lys61Glu) c.202A>G (p.Lys68Glu) n.708A>G | ClinVar dbSNP |
| 11 | g.66715958T>G | CA381484397 | SPTBN2 | c.181A>C (p.Lys61Gln) c.202A>C (p.Lys68Gln) n.708A>C | |
| 11 | g.66715958T= | CA1979846283 | SPTBN2 | c.181A= (p.Lys61=) c.202A= (p.Lys68=) n.708A= |