UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.42404925T>A | CA399583150 | CAVIN1 | c.935A>T (p.Lys312Met) | |
| 17 | g.42404925T>C | CA399583152 | CAVIN1 | c.935A>G (p.Lys312Arg) | gnomAD v4 |
| 17 | g.42404925T>G | CA399583148 | CAVIN1 | c.935A>C (p.Lys312Thr) | dbSNP gnomAD v2 |
| 17 | g.42404925T= | CA2260466874 | CAVIN1 | c.935A= (p.Lys312=) | |
| 17 | g.42404926T>A | CA399583153 | CAVIN1 | c.934A>T (p.Lys312Ter) | |
| 17 | g.42404926T>C | CA399583155 | CAVIN1 | c.934A>G (p.Lys312Glu) | dbSNP |
| 17 | g.42404926T>G | CA399583156 | CAVIN1 | c.934A>C (p.Lys312Gln) | |
| 17 | g.42404927G>A | CA290750491 | CAVIN1 | c.933C>T (p.Ser311=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42404927G>C | CA500215680 | CAVIN1 | c.933C>G (p.Ser311=) | |
| 17 | g.42404927G= | CA2260466875 | CAVIN1 | c.933C= (p.Ser311=) | |
| 17 | g.42404927G>T | CA500215678 | CAVIN1 | c.933C>A (p.Ser311=) | gnomAD v4 |
| 17 | g.42404928G>A | CA399583159 | CAVIN1 | c.932C>T (p.Ser311Phe) | |
| 17 | g.42404928G>C | CA399583161 | CAVIN1 | c.932C>G (p.Ser311Cys) | |
| 17 | g.42404928G>T | CA399583163 | CAVIN1 | c.932C>A (p.Ser311Tyr) | |
| 17 | g.42404929A>C | CA399583166 | CAVIN1 | c.931T>G (p.Ser311Ala) | |
| 17 | g.42404929A>G | CA399583169 | CAVIN1 | c.931T>C (p.Ser311Pro) | |
| 17 | g.42404929A>T | CA399583167 | CAVIN1 | c.931T>A (p.Ser311Thr) | |
| 17 | g.42404930G>A | CA500215689 | CAVIN1 | c.930C>T (p.Arg310=) | |
| 17 | g.42404930G>C | CA8575775 | CAVIN1 | c.930C>G (p.Arg310=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.42404930G= | CA2260466876 | CAVIN1 | c.930C= (p.Arg310=) | |
| 17 | g.42404930G>T | CA500215694 | CAVIN1 | c.930C>A (p.Arg310=) | |
| 17 | g.42404935_42404936dup | CA645587693 | CAVIN1 | c.929_930dup (p.Ser311AlafsTer?) | COSMIC |
| 17 | g.42404931C>A | CA399583171 | CAVIN1 | c.929G>T (p.Arg310Leu) | dbSNP |
| 17 | g.42404931C= | CA2260466877 | CAVIN1 | c.929G= (p.Arg310=) | |
| 17 | g.42404931C>G | CA399583173 | CAVIN1 | c.929G>C (p.Arg310Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42404931C>T | CA399583175 | CAVIN1 | c.929G>A (p.Arg310His) | dbSNP gnomAD v4 |
| 17 | g.42404932G>A | CA399583181 | CAVIN1 | c.928C>T (p.Arg310Cys) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.42404932G>C | CA399583179 | CAVIN1 | c.928C>G (p.Arg310Gly) | |
| 17 | g.42404932G= | CA2260466878 | CAVIN1 | c.928C= (p.Arg310=) | |
| 17 | g.42404932G>T | CA399583177 | CAVIN1 | c.928C>A (p.Arg310Ser) | |
| 17 | g.42404933C>A | CA500215706 | CAVIN1 | c.927G>T (p.Ala309=) | gnomAD v4 |
| 17 | g.42404933C= | CA2260466879 | CAVIN1 | c.927G= (p.Ala309=) | |
| 17 | g.42404933C>G | CA500215708 | CAVIN1 | c.927G>C (p.Ala309=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.42404933C>T | CA154819 | CAVIN1 | c.927G>A (p.Ala309=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42404934G>A | CA399583185 | CAVIN1 | c.926C>T (p.Ala309Val) | |
| 17 | g.42404934G>C | CA399583183 | CAVIN1 | c.926C>G (p.Ala309Gly) | |
| 17 | g.42404934G= | CA2260466881 | CAVIN1 | c.926C= (p.Ala309=) | |
| 17 | g.42404934G>T | CA399583186 | CAVIN1 | c.926C>A (p.Ala309Glu) | dbSNP |
| 17 | g.42404934_42404940delinsGCGTACA | CA2260466880 | CAVIN1 | c.920_926delinsTGTACGC (p.Val307=) | |
| 17 | g.42404935C>A | CA399583189 | CAVIN1 | c.925G>T (p.Ala309Ser) | |
| 17 | g.42404935C= | CA2260466882 | CAVIN1 | c.925G= (p.Ala309=) | |
| 17 | g.42404935C>G | CA399583192 | CAVIN1 | c.925G>C (p.Ala309Pro) | |
| 17 | g.42404935C>T | CA399583194 | CAVIN1 | c.925G>A (p.Ala309Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42404936_42404941del | CA8575776 | CAVIN1 | c.920_925del (p.Val307_Tyr308del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.42404936G>A | CA500215713 | CAVIN1 | c.924C>T (p.Tyr308=) | gnomAD v4 COSMIC |
| 17 | g.42404936G>C | CA290750521 | CAVIN1 | c.924C>G (p.Tyr308Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42404936G= | CA2260466883 | CAVIN1 | c.924C= (p.Tyr308=) | |
| 17 | g.42404936G>T | CA8575777 | CAVIN1 | c.924C>A (p.Tyr308Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.42404937T>A | CA399583198 | CAVIN1 | c.923A>T (p.Tyr308Phe) | |
| 17 | g.42404937T>C | CA209797 | CAVIN1 | c.923A>G (p.Tyr308Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42404937T>G | CA399583201 | CAVIN1 | c.923A>C (p.Tyr308Ser) | |
| 17 | g.42404937T= | CA2260466884 | CAVIN1 | c.923A= (p.Tyr308=) | |
| 17 | g.42404938A>C | CA399583203 | CAVIN1 | c.922T>G (p.Tyr308Asp) | |
| 17 | g.42404938A>G | CA399583205 | CAVIN1 | c.922T>C (p.Tyr308His) | |
| 17 | g.42404938A>T | CA399583207 | CAVIN1 | c.922T>A (p.Tyr308Asn) | |
| 17 | g.42404939C>A | CA500215723 | CAVIN1 | c.921G>T (p.Val307=) | |
| 17 | g.42404939C>G | CA500215725 | CAVIN1 | c.921G>C (p.Val307=) | |
| 17 | g.42404939C>T | CA500215727 | CAVIN1 | c.921G>A (p.Val307=) | gnomAD v4 |
| 17 | g.42404940A>C | CA399583209 | CAVIN1 | c.920T>G (p.Val307Gly) | |
| 17 | g.42404940A>G | CA399583211 | CAVIN1 | c.920T>C (p.Val307Ala) | |
| 17 | g.42404940A>T | CA399583213 | CAVIN1 | c.920T>A (p.Val307Glu) | |
| 17 | g.42404941C>A | CA399583219 | CAVIN1 | c.919G>T (p.Val307Leu) | gnomAD v4 |
| 17 | g.42404941C>G | CA399583216 | CAVIN1 | c.919G>C (p.Val307Leu) | |
| 17 | g.42404941C>T | CA399583217 | CAVIN1 | c.919G>A (p.Val307Met) | gnomAD v4 |
| 17 | g.42404942C>A | CA500215731 | CAVIN1 | c.918G>T (p.Val306=) | |
| 17 | g.42404942C= | CA2260466885 | CAVIN1 | c.918G= (p.Val306=) | |
| 17 | g.42404942C>G | CA500215734 | CAVIN1 | c.918G>C (p.Val306=) | |
| 17 | g.42404942C>T | CA500215729 | CAVIN1 | c.918G>A (p.Val306=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42404943A= | CA2260466886 | CAVIN1 | c.917T= (p.Val306=) | |
| 17 | g.42404943A>C | CA399583222 | CAVIN1 | c.917T>G (p.Val306Gly) | |
| 17 | g.42404943A>G | CA399583223 | CAVIN1 | c.917T>C (p.Val306Ala) | ClinVar dbSNP |
| 17 | g.42404943A>T | CA399583225 | CAVIN1 | c.917T>A (p.Val306Glu) | |
| 17 | g.42404944C>A | CA399583228 | CAVIN1 | c.916G>T (p.Val306Leu) | |
| 17 | g.42404944C= | CA2260466887 | CAVIN1 | c.916G= (p.Val306=) | |
| 17 | g.42404944C>G | CA8575778 | CAVIN1 | c.916G>C (p.Val306Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.42404944C>T | CA399583230 | CAVIN1 | c.916G>A (p.Val306Met) | dbSNP gnomAD v4 |
| 17 | g.42404945G>A | CA500215748 | CAVIN1 | c.915C>T (p.His305=) | gnomAD v4 |
| 17 | g.42404945G>C | CA290750538 | CAVIN1 | c.915C>G (p.His305Gln) | dbSNP |
| 17 | g.42404945G= | CA2260466888 | CAVIN1 | c.915C= (p.His305=) | |
| 17 | g.42404945G>T | CA399583233 | CAVIN1 | c.915C>A (p.His305Gln) | gnomAD v4 |
| 17 | g.42404946T>A | CA399583236 | CAVIN1 | c.914A>T (p.His305Leu) | |
| 17 | g.42404946T>C | CA399583238 | CAVIN1 | c.914A>G (p.His305Arg) | |
| 17 | g.42404946T>G | CA399583240 | CAVIN1 | c.914A>C (p.His305Pro) | |
| 17 | g.42404947G>A | CA399583246 | CAVIN1 | c.913C>T (p.His305Tyr) | gnomAD v4 |
| 17 | g.42404947G>C | CA399583245 | CAVIN1 | c.913C>G (p.His305Asp) | |
| 17 | g.42404947G>T | CA399583243 | CAVIN1 | c.913C>A (p.His305Asn) | |
| 17 | g.42404948G>A | CA8575779 | CAVIN1 | c.912C>T (p.Asp304=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.42404948G>C | CA399583247 | CAVIN1 | c.912C>G (p.Asp304Glu) | gnomAD v4 |
| 17 | g.42404948G= | CA2260466889 | CAVIN1 | c.912C= (p.Asp304=) | |
| 17 | g.42404948G>T | CA399583249 | CAVIN1 | c.912C>A (p.Asp304Glu) | |
| 17 | g.42404949T>A | CA399583251 | CAVIN1 | c.911A>T (p.Asp304Val) | |
| 17 | g.42404949T>C | CA8575780 | CAVIN1 | c.911A>G (p.Asp304Gly) | dbSNP ExAC gnomAD v4 |
| 17 | g.42404949T>G | CA399583254 | CAVIN1 | c.911A>C (p.Asp304Ala) | |
| 17 | g.42404949T= | CA2260466890 | CAVIN1 | c.911A= (p.Asp304=) | |
| 17 | g.42404950C>A | CA399583256 | CAVIN1 | c.910G>T (p.Asp304Tyr) | |
| 17 | g.42404950C= | CA2260466891 | CAVIN1 | c.910G= (p.Asp304=) | |
| 17 | g.42404950C>G | CA399583257 | CAVIN1 | c.910G>C (p.Asp304His) | |
| 17 | g.42404950C>T | CA290750545 | CAVIN1 | c.910G>A (p.Asp304Asn) | dbSNP |
| 17 | g.42404951G>A | CA500215770 | CAVIN1 | c.909C>T (p.Pro303=) | gnomAD v4 COSMIC |
| 17 | g.42404951G>C | CA500215768 | CAVIN1 | c.909C>G (p.Pro303=) | |
| 17 | g.42404951G= | CA2260466892 | CAVIN1 | c.909C= (p.Pro303=) | |
| 17 | g.42404951G>T | CA10604998 | CAVIN1 | c.909C>A (p.Pro303=) | ClinVar dbSNP |
| 17 | g.42404952G>A | CA399583262 | CAVIN1 | c.908C>T (p.Pro303Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42404952G>C | CA399583264 | CAVIN1 | c.908C>G (p.Pro303Arg) | dbSNP |
| 17 | g.42404952G= | CA2260466893 | CAVIN1 | c.908C= (p.Pro303=) | |
| 17 | g.42404952G>T | CA399583265 | CAVIN1 | c.908C>A (p.Pro303His) | |
| 17 | g.42404953G>A | CA399583272 | CAVIN1 | c.907C>T (p.Pro303Ser) | gnomAD v4 |
| 17 | g.42404953G>C | CA399583268 | CAVIN1 | c.907C>G (p.Pro303Ala) | |
| 17 | g.42404953G>T | CA399583270 | CAVIN1 | c.907C>A (p.Pro303Thr) | |
| 17 | g.42404954C>A | CA500215777 | CAVIN1 | c.906G>T (p.Thr302=) | COSMIC |
| 17 | g.42404954C= | CA2260466894 | CAVIN1 | c.906G= (p.Thr302=) | |
| 17 | g.42404954C>G | CA500215778 | CAVIN1 | c.906G>C (p.Thr302=) | |
| 17 | g.42404954C>T | CA500215774 | CAVIN1 | c.906G>A (p.Thr302=) | dbSNP |
| 17 | g.42404955G>A | CA8575781 | CAVIN1 | c.905C>T (p.Thr302Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42404955G>C | CA399583275 | CAVIN1 | c.905C>G (p.Thr302Arg) | |
| 17 | g.42404955G= | CA2260466895 | CAVIN1 | c.905C= (p.Thr302=) | |
| 17 | g.42404955G>T | CA399583276 | CAVIN1 | c.905C>A (p.Thr302Lys) | |
| 17 | g.42404956T>A | CA399583280 | CAVIN1 | c.904A>T (p.Thr302Ser) | |
| 17 | g.42404956T>C | CA399583281 | CAVIN1 | c.904A>G (p.Thr302Ala) | |
| 17 | g.42404956T>G | CA399583283 | CAVIN1 | c.904A>C (p.Thr302Pro) | gnomAD v4 |
| 17 | g.42404957G>A | CA500215667 | CAVIN1 | c.903C>T (p.Phe301=) | |
| 17 | g.42404957G>C | CA399583285 | CAVIN1 | c.903C>G (p.Phe301Leu) | |
| 17 | g.42404957G>T | CA399583287 | CAVIN1 | c.903C>A (p.Phe301Leu) | |
| 17 | g.42404958A>C | CA399583288 | CAVIN1 | c.902T>G (p.Phe301Cys) | |
| 17 | g.42404958A>G | CA399583289 | CAVIN1 | c.902T>C (p.Phe301Ser) | |
| 17 | g.42404958A>T | CA399583290 | CAVIN1 | c.902T>A (p.Phe301Tyr) | |
| 17 | g.42404959A>C | CA399583293 | CAVIN1 | c.901T>G (p.Phe301Val) | |
| 17 | g.42404959A>G | CA399583292 | CAVIN1 | c.901T>C (p.Phe301Leu) | |
| 17 | g.42404959A>T | CA399583291 | CAVIN1 | c.901T>A (p.Phe301Ile) | |
| 17 | g.42404960G>A | CA500215677 | CAVIN1 | c.900C>T (p.Ser300=) | gnomAD v4 |
| 17 | g.42404960G>C | CA500215679 | CAVIN1 | c.900C>G (p.Ser300=) | |
| 17 | g.42404960G>T | CA500215681 | CAVIN1 | c.900C>A (p.Ser300=) | |
| 17 | g.42404961del | CA2576275145 | CAVIN1 | c.900del (p.Phe301SerfsTer?) | |
| 17 | g.42404961G>A | CA399583294 | CAVIN1 | c.899C>T (p.Ser300Phe) | |
| 17 | g.42404961G>C | CA399583296 | CAVIN1 | c.899C>G (p.Ser300Cys) | gnomAD v4 COSMIC |
| 17 | g.42404961G>T | CA399583295 | CAVIN1 | c.899C>A (p.Ser300Tyr) | |
| 17 | g.42404962A= | CA2260466896 | CAVIN1 | c.898T= (p.Ser300=) | |
| 17 | g.42404962A>C | CA399583297 | CAVIN1 | c.898T>G (p.Ser300Ala) | dbSNP |
| 17 | g.42404962A>G | CA399583298 | CAVIN1 | c.898T>C (p.Ser300Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42404962A>T | CA399583299 | CAVIN1 | c.898T>A (p.Ser300Thr) | |
| 17 | g.42404963T>A | CA399583300 | CAVIN1 | c.897A>T (p.Lys299Asn) | |
| 17 | g.42404963T>C | CA8575782 | CAVIN1 | c.897A>G (p.Lys299=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42404963T>G | CA399583301 | CAVIN1 | c.897A>C (p.Lys299Asn) | |
| 17 | g.42404963T= | CA2260466897 | CAVIN1 | c.897A= (p.Lys299=) | |
| 17 | g.42404964T>A | CA399583302 | CAVIN1 | c.896A>T (p.Lys299Ile) | |
| 17 | g.42404964T>C | CA399583303 | CAVIN1 | c.896A>G (p.Lys299Arg) | |
| 17 | g.42404964T>G | CA399583304 | CAVIN1 | c.896A>C (p.Lys299Thr) | dbSNP |
| 17 | g.42404964T= | CA2260466898 | CAVIN1 | c.896A= (p.Lys299=) | |
| 17 | g.42404965T>A | CA399583305 | CAVIN1 | c.895A>T (p.Lys299Ter) | |
| 17 | g.42404965T>C | CA399583306 | CAVIN1 | c.895A>G (p.Lys299Glu) | |
| 17 | g.42404965T>G | CA399583308 | CAVIN1 | c.895A>C (p.Lys299Gln) | |
| 17 | g.42404966G>A | CA500215691 | CAVIN1 | c.894C>T (p.Arg298=) | gnomAD v4 |
| 17 | g.42404966G>C | CA500215692 | CAVIN1 | c.894C>G (p.Arg298=) | |
| 17 | g.42404966G>T | CA500215690 | CAVIN1 | c.894C>A (p.Arg298=) | |
| 17 | g.42404967C>A | CA399583311 | CAVIN1 | c.893G>T (p.Arg298Leu) | gnomAD v4 |
| 17 | g.42404967C= | CA2260466899 | CAVIN1 | c.893G= (p.Arg298=) | |
| 17 | g.42404967C>G | CA399583313 | CAVIN1 | c.893G>C (p.Arg298Pro) | |
| 17 | g.42404967C>T | CA8575783 | CAVIN1 | c.893G>A (p.Arg298His) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 17 | g.42404968G>A | CA399583316 | CAVIN1 | c.892C>T (p.Arg298Cys) | dbSNP COSMIC |
| 17 | g.42404968G>C | CA399583317 | CAVIN1 | c.892C>G (p.Arg298Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42404968G= | CA2260466900 | CAVIN1 | c.892C= (p.Arg298=) | |
| 17 | g.42404968G>T | CA399583319 | CAVIN1 | c.892C>A (p.Arg298Ser) | dbSNP |
| 17 | g.42404969C>A | CA399583321 | CAVIN1 | c.891G>T (p.Leu297Phe) | |
| 17 | g.42404969C>G | CA399583323 | CAVIN1 | c.891G>C (p.Leu297Phe) | |
| 17 | g.42404969C>T | CA500215698 | CAVIN1 | c.891G>A (p.Leu297=) | |
| 17 | g.42404970A>C | CA399583325 | CAVIN1 | c.890T>G (p.Leu297Trp) | |
| 17 | g.42404970A>G | CA399583327 | CAVIN1 | c.890T>C (p.Leu297Ser) | |
| 17 | g.42404970A>T | CA399583329 | CAVIN1 | c.890T>A (p.Leu297Ter) | |
| 17 | g.42404971del | CA2637956471 | CAVIN1 | c.890del (p.Leu297CysfsTer?) | gnomAD v4 |
| 17 | g.42404971A>C | CA399583331 | CAVIN1 | c.889T>G (p.Leu297Val) | |
| 17 | g.42404971A>G | CA500215703 | CAVIN1 | c.889T>C (p.Leu297=) | |
| 17 | g.42404971A>T | CA399583333 | CAVIN1 | c.889T>A (p.Leu297Met) | |
| 17 | g.42404972C>A | CA399583336 | CAVIN1 | c.888G>T (p.Lys296Asn) | gnomAD v4 |
| 17 | g.42404972C= | CA2260466901 | CAVIN1 | c.888G= (p.Lys296=) | |
| 17 | g.42404972C>G | CA399583338 | CAVIN1 | c.888G>C (p.Lys296Asn) | |
| 17 | g.42404972C>T | CA8575784 | CAVIN1 | c.888G>A (p.Lys296=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.42404973T>A | CA399583340 | CAVIN1 | c.887A>T (p.Lys296Met) | |
| 17 | g.42404973T>C | CA399583341 | CAVIN1 | c.887A>G (p.Lys296Arg) | |
| 17 | g.42404973T>G | CA399583343 | CAVIN1 | c.887A>C (p.Lys296Thr) | |
| 17 | g.42404974T>A | CA399583344 | CAVIN1 | c.886A>T (p.Lys296Ter) | |
| 17 | g.42404974T>C | CA399583346 | CAVIN1 | c.886A>G (p.Lys296Glu) | gnomAD v4 |
| 17 | g.42404974T>G | CA399583348 | CAVIN1 | c.886A>C (p.Lys296Gln) | |
| 17 | g.42404975G>A | CA500215711 | CAVIN1 | c.885C>T (p.Asp295=) | |
| 17 | g.42404975G>C | CA399583352 | CAVIN1 | c.885C>G (p.Asp295Glu) | |
| 17 | g.42404975G>T | CA399583350 | CAVIN1 | c.885C>A (p.Asp295Glu) | |
| 17 | g.42404976T>A | CA399583354 | CAVIN1 | c.884A>T (p.Asp295Val) | |
| 17 | g.42404976T>C | CA399583355 | CAVIN1 | c.884A>G (p.Asp295Gly) | |
| 17 | g.42404976T>G | CA399583357 | CAVIN1 | c.884A>C (p.Asp295Ala) | |
| 17 | g.42404977C>A | CA8575785 | CAVIN1 | c.883G>T (p.Asp295Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42404977C= | CA2260466902 | CAVIN1 | c.883G= (p.Asp295=) | |
| 17 | g.42404977C>G | CA399583360 | CAVIN1 | c.883G>C (p.Asp295His) | |
| 17 | g.42404977C>T | CA8575786 | CAVIN1 | c.883G>A (p.Asp295Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42404978C>A | CA500215719 | CAVIN1 | c.882G>T (p.Arg294=) | COSMIC |
| 17 | g.42404978C>G | CA500215717 | CAVIN1 | c.882G>C (p.Arg294=) | |
| 17 | g.42404978C>T | CA500215718 | CAVIN1 | c.882G>A (p.Arg294=) | gnomAD v4 |
| 17 | g.42404979C>A | CA399583364 | CAVIN1 | c.881G>T (p.Arg294Leu) | |
| 17 | g.42404979C>G | CA399583368 | CAVIN1 | c.881G>C (p.Arg294Pro) | |
| 17 | g.42404979C>T | CA399583365 | CAVIN1 | c.881G>A (p.Arg294Gln) | gnomAD v4 COSMIC |
| 17 | g.42404980G>A | CA399583370 | CAVIN1 | c.880C>T (p.Arg294Trp) | |
| 17 | g.42404980G>C | CA399583372 | CAVIN1 | c.880C>G (p.Arg294Gly) | gnomAD v4 |
| 17 | g.42404980G>T | CA500215728 | CAVIN1 | c.880C>A (p.Arg294=) | |
| 17 | g.42404981C>A | CA500215733 | CAVIN1 | c.879G>T (p.Ser293=) | |
| 17 | g.42404981C>G | CA500215730 | CAVIN1 | c.879G>C (p.Ser293=) | |
| 17 | g.42404981C>T | CA500215732 | CAVIN1 | c.879G>A (p.Ser293=) | |
| 17 | g.42404982G>A | CA399583374 | CAVIN1 | c.878C>T (p.Ser293Leu) | |
| 17 | g.42404982G>C | CA399583376 | CAVIN1 | c.878C>G (p.Ser293Trp) | |
| 17 | g.42404982G= | CA2260466903 | CAVIN1 | c.878C= (p.Ser293=) | |
| 17 | g.42404982G>T | CA399583377 | CAVIN1 | c.878C>A (p.Ser293Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42404983A>C | CA399583380 | CAVIN1 | c.877T>G (p.Ser293Ala) | |
| 17 | g.42404983A>G | CA399583382 | CAVIN1 | c.877T>C (p.Ser293Pro) | |
| 17 | g.42404983A>T | CA399583384 | CAVIN1 | c.877T>A (p.Ser293Thr) | |
| 17 | g.42404984C>A | CA500215741 | CAVIN1 | c.876G>T (p.Thr292=) | |
| 17 | g.42404984C>G | CA500215743 | CAVIN1 | c.876G>C (p.Thr292=) | |
| 17 | g.42404984C>T | CA500215742 | CAVIN1 | c.876G>A (p.Thr292=) | gnomAD v4 |
| 17 | g.42404985G>A | CA399583386 | CAVIN1 | c.875C>T (p.Thr292Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.42404985G>C | CA399583388 | CAVIN1 | c.875C>G (p.Thr292Arg) | dbSNP |
| 17 | g.42404985G= | CA2260466904 | CAVIN1 | c.875C= (p.Thr292=) | |
| 17 | g.42404985G>T | CA399583390 | CAVIN1 | c.875C>A (p.Thr292Lys) | |
| 17 | g.42404986T>A | CA399583396 | CAVIN1 | c.874A>T (p.Thr292Ser) | |
| 17 | g.42404986T>C | CA399583395 | CAVIN1 | c.874A>G (p.Thr292Ala) | |
| 17 | g.42404986T>G | CA399583393 | CAVIN1 | c.874A>C (p.Thr292Pro) | |
| 17 | g.42404987C>A | CA399583399 | CAVIN1 | c.873G>T (p.Lys291Asn) | gnomAD v4 |
| 17 | g.42404987C= | CA2260466905 | CAVIN1 | c.873G= (p.Lys291=) | |
| 17 | g.42404987C>G | CA399583401 | CAVIN1 | c.873G>C (p.Lys291Asn) | |
| 17 | g.42404987C>T | CA290750605 | CAVIN1 | c.873G>A (p.Lys291=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42404988T>A | CA399583402 | CAVIN1 | c.872A>T (p.Lys291Met) | |
| 17 | g.42404988T>C | CA399583404 | CAVIN1 | c.872A>G (p.Lys291Arg) | gnomAD v4 |
| 17 | g.42404988T>G | CA399583406 | CAVIN1 | c.872A>C (p.Lys291Thr) | |
| 17 | g.42404989T>A | CA399583407 | CAVIN1 | c.871A>T (p.Lys291Ter) | |
| 17 | g.42404989T>C | CA399583409 | CAVIN1 | c.871A>G (p.Lys291Glu) | |
| 17 | g.42404989T>G | CA399583410 | CAVIN1 | c.871A>C (p.Lys291Gln) | |
| 17 | g.42404990C>A | CA500215759 | CAVIN1 | c.870G>T (p.Leu290=) | |
| 17 | g.42404990C>G | CA500215760 | CAVIN1 | c.870G>C (p.Leu290=) | |
| 17 | g.42404990C>T | CA500215757 | CAVIN1 | c.870G>A (p.Leu290=) | |
| 17 | g.42404991A>C | CA399583412 | CAVIN1 | c.869T>G (p.Leu290Arg) | |
| 17 | g.42404991A>G | CA399583413 | CAVIN1 | c.869T>C (p.Leu290Pro) | |
| 17 | g.42404991A>T | CA399583415 | CAVIN1 | c.869T>A (p.Leu290Gln) | |
| 17 | g.42404992G>A | CA500215761 | CAVIN1 | c.868C>T (p.Leu290=) | |
| 17 | g.42404992G>C | CA399583416 | CAVIN1 | c.868C>G (p.Leu290Val) | |
| 17 | g.42404992G>T | CA399583417 | CAVIN1 | c.868C>A (p.Leu290Met) | |
| 17 | g.42404993T>A | CA399583418 | CAVIN1 | c.867A>T (p.Lys289Asn) | |
| 17 | g.42404993T>C | CA500215762 | CAVIN1 | c.867A>G (p.Lys289=) | dbSNP |
| 17 | g.42404993T>G | CA399583420 | CAVIN1 | c.867A>C (p.Lys289Asn) | |
| 17 | g.42404994T>A | CA399583425 | CAVIN1 | c.866A>T (p.Lys289Ile) | |
| 17 | g.42404994T>C | CA399583423 | CAVIN1 | c.866A>G (p.Lys289Arg) | |
| 17 | g.42404994T>G | CA399583422 | CAVIN1 | c.866A>C (p.Lys289Thr) | |
| 17 | g.42404995T>A | CA399583428 | CAVIN1 | c.865A>T (p.Lys289Ter) | |
| 17 | g.42404995T>C | CA399583431 | CAVIN1 | c.865A>G (p.Lys289Glu) | dbSNP gnomAD v2 |
| 17 | g.42404995T>G | CA399583432 | CAVIN1 | c.865A>C (p.Lys289Gln) | |
| 17 | g.42404995T= | CA2260466906 | CAVIN1 | c.865A= (p.Lys289=) | |
| 17 | g.42404996C>A | CA399583435 | CAVIN1 | c.864G>T (p.Glu288Asp) | |
| 17 | g.42404996C>G | CA399583437 | CAVIN1 | c.864G>C (p.Glu288Asp) | |
| 17 | g.42404996C>T | CA500215766 | CAVIN1 | c.864G>A (p.Glu288=) | gnomAD v4 |
| 17 | g.42404997T>A | CA399583441 | CAVIN1 | c.863A>T (p.Glu288Val) | |
| 17 | g.42404997T>C | CA399583443 | CAVIN1 | c.863A>G (p.Glu288Gly) | |
| 17 | g.42404997T>G | CA399583447 | CAVIN1 | c.863A>C (p.Glu288Ala) | |
| 17 | g.42404998C>A | CA399583451 | CAVIN1 | c.862G>T (p.Glu288Ter) | |
| 17 | g.42404998C= | CA2260466907 | CAVIN1 | c.862G= (p.Glu288=) | |
| 17 | g.42404998C>G | CA399583453 | CAVIN1 | c.862G>C (p.Glu288Gln) | |
| 17 | g.42404998C>T | CA399583457 | CAVIN1 | c.862G>A (p.Glu288Lys) | dbSNP gnomAD v4 |
| 17 | g.42404999G>A | CA500215776 | CAVIN1 | c.861C>T (p.Arg287=) | dbSNP gnomAD v4 |
| 17 | g.42404999G>C | CA500215775 | CAVIN1 | c.861C>G (p.Arg287=) | |
| 17 | g.42404999G= | CA2260466908 | CAVIN1 | c.861C= (p.Arg287=) | |
| 17 | g.42404999G>T | CA500215773 | CAVIN1 | c.861C>A (p.Arg287=) | |
| 17 | g.42405000C>A | CA399583460 | CAVIN1 | c.860G>T (p.Arg287Leu) | |
| 17 | g.42405000C>G | CA399583463 | CAVIN1 | c.860G>C (p.Arg287Pro) | |
| 17 | g.42405000C>T | CA399583467 | CAVIN1 | c.860G>A (p.Arg287His) | gnomAD v4 |
| 17 | g.42405001G>A | CA399583472 | CAVIN1 | c.859C>T (p.Arg287Cys) | dbSNP COSMIC |
| 17 | g.42405001G>C | CA8575787 | CAVIN1 | c.859C>G (p.Arg287Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42405001G= | CA2260466909 | CAVIN1 | c.859C= (p.Arg287=) | |
| 17 | g.42405001G>T | CA399583470 | CAVIN1 | c.859C>A (p.Arg287Ser) | |
| 17 | g.42405002C>A | CA500215786 | CAVIN1 | c.858G>T (p.Arg286=) | gnomAD v4 |
| 17 | g.42405002C>G | CA500215787 | CAVIN1 | c.858G>C (p.Arg286=) | |
| 17 | g.42405002C>T | CA500215785 | CAVIN1 | c.858G>A (p.Arg286=) | |
| 17 | g.42405003C>A | CA399583476 | CAVIN1 | c.857G>T (p.Arg286Leu) | gnomAD v4 |
| 17 | g.42405003C>G | CA399583478 | CAVIN1 | c.857G>C (p.Arg286Pro) | |
| 17 | g.42405003C>T | CA399583479 | CAVIN1 | c.857G>A (p.Arg286Gln) | |
| 17 | g.42405004G>A | CA399583483 | CAVIN1 | c.856C>T (p.Arg286Trp) | dbSNP COSMIC |
| 17 | g.42405004G>C | CA399583486 | CAVIN1 | c.856C>G (p.Arg286Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42405004G= | CA2260466910 | CAVIN1 | c.856C= (p.Arg286=) | |
| 17 | g.42405004G>T | CA500215792 | CAVIN1 | c.856C>A (p.Arg286=) | |
| 17 | g.42405005C>A | CA399583490 | CAVIN1 | c.855G>T (p.Glu285Asp) | |
| 17 | g.42405005C= | CA2260466911 | CAVIN1 | c.855G= (p.Glu285=) | |
| 17 | g.42405005C>G | CA399583493 | CAVIN1 | c.855G>C (p.Glu285Asp) | |
| 17 | g.42405005C>T | CA8575788 | CAVIN1 | c.855G>A (p.Glu285=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.42405006T>A | CA399583498 | CAVIN1 | c.854A>T (p.Glu285Val) | |
| 17 | g.42405006T>C | CA8575789 | CAVIN1 | c.854A>G (p.Glu285Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.42405006T>G | CA399583502 | CAVIN1 | c.854A>C (p.Glu285Ala) | |
| 17 | g.42405006T= | CA2260466912 | CAVIN1 | c.854A= (p.Glu285=) | |
| 17 | g.42405007C>A | CA399583511 | CAVIN1 | c.853G>T (p.Glu285Ter) | gnomAD v4 |
| 17 | g.42405007C>G | CA399583509 | CAVIN1 | c.853G>C (p.Glu285Gln) | |
| 17 | g.42405007C>T | CA399583506 | CAVIN1 | c.853G>A (p.Glu285Lys) | gnomAD v4 COSMIC |
| 17 | g.42405008G>A | CA500215796 | CAVIN1 | c.852C>T (p.Ala284=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42405008G>C | CA500215809 | CAVIN1 | c.852C>G (p.Ala284=) | gnomAD v4 |
| 17 | g.42405008G= | CA2260466913 | CAVIN1 | c.852C= (p.Ala284=) | |
| 17 | g.42405008G>T | CA500215797 | CAVIN1 | c.852C>A (p.Ala284=) | |
| 17 | g.42405009G>A | CA399583514 | CAVIN1 | c.851C>T (p.Ala284Val) | gnomAD v4 |
| 17 | g.42405009G>C | CA399583516 | CAVIN1 | c.851C>G (p.Ala284Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42405009G= | CA2260466914 | CAVIN1 | c.851C= (p.Ala284=) | |
| 17 | g.42405009G>T | CA399583518 | CAVIN1 | c.851C>A (p.Ala284Asp) | |
| 17 | g.42405010C>A | CA399583521 | CAVIN1 | c.850G>T (p.Ala284Ser) | gnomAD v4 |
| 17 | g.42405010C= | CA2260466915 | CAVIN1 | c.850G= (p.Ala284=) | |
| 17 | g.42405010C>G | CA399583525 | CAVIN1 | c.850G>C (p.Ala284Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42405010C>T | CA399583528 | CAVIN1 | c.850G>A (p.Ala284Thr) | |
| 17 | g.42405011G>A | CA500215817 | CAVIN1 | c.849C>T (p.Pro283=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42405011G>C | CA500215814 | CAVIN1 | c.849C>G (p.Pro283=) | |
| 17 | g.42405011G= | CA2260466916 | CAVIN1 | c.849C= (p.Pro283=) | |
| 17 | g.42405011G>T | CA8575790 | CAVIN1 | c.849C>A (p.Pro283=) | dbSNP ExAC gnomAD v2 |
| 17 | g.42405012G>A | CA399583534 | CAVIN1 | c.848C>T (p.Pro283Leu) | |
| 17 | g.42405012G>C | CA399583535 | CAVIN1 | c.848C>G (p.Pro283Arg) | |
| 17 | g.42405012G>T | CA399583540 | CAVIN1 | c.848C>A (p.Pro283His) | |
| 17 | g.42405013G>A | CA8575791 | CAVIN1 | c.847C>T (p.Pro283Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.42405013G>C | CA399583545 | CAVIN1 | c.847C>G (p.Pro283Ala) | |
| 17 | g.42405013G= | CA2260466917 | CAVIN1 | c.847C= (p.Pro283=) | |
| 17 | g.42405013G>T | CA399583546 | CAVIN1 | c.847C>A (p.Pro283Thr) | |
| 17 | g.42405014C>A | CA500215824 | CAVIN1 | c.846G>T (p.Val282=) | |
| 17 | g.42405014C= | CA2260466918 | CAVIN1 | c.846G= (p.Val282=) | |
| 17 | g.42405014C>G | CA500215823 | CAVIN1 | c.846G>C (p.Val282=) | |
| 17 | g.42405014C>T | CA8575792 | CAVIN1 | c.846G>A (p.Val282=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42405015A>C | CA399583556 | CAVIN1 | c.845T>G (p.Val282Gly) | gnomAD v4 |
| 17 | g.42405015A>G | CA399583550 | CAVIN1 | c.845T>C (p.Val282Ala) | gnomAD v4 |
| 17 | g.42405015A>T | CA399583554 | CAVIN1 | c.845T>A (p.Val282Glu) | |
| 17 | g.42405016C>A | CA399583559 | CAVIN1 | c.844G>T (p.Val282Leu) | gnomAD v4 |
| 17 | g.42405016C= | CA2260466919 | CAVIN1 | c.844G= (p.Val282=) | |
| 17 | g.42405016C>G | CA290750634 | CAVIN1 | c.844G>C (p.Val282Leu) | dbSNP |
| 17 | g.42405016C>T | CA399583564 | CAVIN1 | c.844G>A (p.Val282Met) | |
| 17 | g.42405017C>A | CA500215830 | CAVIN1 | c.843G>T (p.Leu281=) | |
| 17 | g.42405017C= | CA2260466920 | CAVIN1 | c.843G= (p.Leu281=) | |
| 17 | g.42405017C>G | CA500215829 | CAVIN1 | c.843G>C (p.Leu281=) | |
| 17 | g.42405017C>T | CA154817 | CAVIN1 | c.843G>A (p.Leu281=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42405018A= | CA2260466921 | CAVIN1 | c.842T= (p.Leu281=) | |
| 17 | g.42405018A>C | CA399583574 | CAVIN1 | c.842T>G (p.Leu281Arg) | dbSNP |
| 17 | g.42405018A>G | CA399583572 | CAVIN1 | c.842T>C (p.Leu281Pro) | |
| 17 | g.42405018A>T | CA399583571 | CAVIN1 | c.842T>A (p.Leu281Gln) | |
| 17 | g.42405019G>A | CA8575793 | CAVIN1 | c.841C>T (p.Leu281=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42405019G>C | CA399583581 | CAVIN1 | c.841C>G (p.Leu281Val) | COSMIC |
| 17 | g.42405019G= | CA2260466922 | CAVIN1 | c.841C= (p.Leu281=) | |
| 17 | g.42405019G>T | CA399583582 | CAVIN1 | c.841C>A (p.Leu281Met) | |
| 17 | g.42405020G>A | CA500215837 | CAVIN1 | c.840C>T (p.Arg280=) | |
| 17 | g.42405020G>C | CA500215843 | CAVIN1 | c.840C>G (p.Arg280=) | |
| 17 | g.42405020G>T | CA500215840 | CAVIN1 | c.840C>A (p.Arg280=) | |
| 17 | g.42405021C>A | CA399583585 | CAVIN1 | c.839G>T (p.Arg280Leu) | |
| 17 | g.42405021C>G | CA399583591 | CAVIN1 | c.839G>C (p.Arg280Pro) | |
| 17 | g.42405021C>T | CA399583593 | CAVIN1 | c.839G>A (p.Arg280His) | |
| 17 | g.42405022G>A | CA399583596 | CAVIN1 | c.838C>T (p.Arg280Cys) | gnomAD v4 |
| 17 | g.42405022G>C | CA399583600 | CAVIN1 | c.838C>G (p.Arg280Gly) | gnomAD v4 |
| 17 | g.42405022G>T | CA399583597 | CAVIN1 | c.838C>A (p.Arg280Ser) | |
| 17 | g.42405023C>A | CA500215849 | CAVIN1 | c.837G>T (p.Thr279=) | |
| 17 | g.42405023C= | CA2260466923 | CAVIN1 | c.837G= (p.Thr279=) | |
| 17 | g.42405023C>G | CA500215847 | CAVIN1 | c.837G>C (p.Thr279=) | dbSNP |
| 17 | g.42405023C>T | CA500215851 | CAVIN1 | c.837G>A (p.Thr279=) | |
| 17 | g.42405024G>A | CA399583602 | CAVIN1 | c.836C>T (p.Thr279Met) | |
| 17 | g.42405024G>C | CA8575794 | CAVIN1 | c.836C>G (p.Thr279Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.42405024G= | CA2260466924 | CAVIN1 | c.836C= (p.Thr279=) | |
| 17 | g.42405024G>T | CA399583607 | CAVIN1 | c.836C>A (p.Thr279Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42405025T>A | CA399583611 | CAVIN1 | c.835A>T (p.Thr279Ser) | |
| 17 | g.42405025T>C | CA399583612 | CAVIN1 | c.835A>G (p.Thr279Ala) | |
| 17 | g.42405025T>G | CA399583615 | CAVIN1 | c.835A>C (p.Thr279Pro) |