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.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) | |
| 17 | g.42405026G>A | CA500215861 | CAVIN1 | c.834C>T (p.Gly278=) | dbSNP |
| 17 | g.42405026G>C | CA500215858 | CAVIN1 | c.834C>G (p.Gly278=) | |
| 17 | g.42405026G= | CA2260466925 | CAVIN1 | c.834C= (p.Gly278=) | |
| 17 | g.42405026G>T | CA500215860 | CAVIN1 | c.834C>A (p.Gly278=) | |
| 17 | g.42405027C>A | CA399583618 | CAVIN1 | c.833G>T (p.Gly278Val) | |
| 17 | g.42405027C>G | CA399583619 | CAVIN1 | c.833G>C (p.Gly278Ala) | |
| 17 | g.42405027C>T | CA399583622 | CAVIN1 | c.833G>A (p.Gly278Asp) | gnomAD v4 |
| 17 | g.42405028C>A | CA399583626 | CAVIN1 | c.832G>T (p.Gly278Cys) | |
| 17 | g.42405028C= | CA2260466926 | CAVIN1 | c.832G= (p.Gly278=) | |
| 17 | g.42405028C>G | CA399583627 | CAVIN1 | c.832G>C (p.Gly278Arg) | dbSNP |
| 17 | g.42405028C>T | CA399583630 | CAVIN1 | c.832G>A (p.Gly278Ser) | gnomAD v4 |
| 17 | g.42405029C>A | CA500215864 | CAVIN1 | c.831G>T (p.Leu277=) | |
| 17 | g.42405029C>G | CA500215862 | CAVIN1 | c.831G>C (p.Leu277=) | |
| 17 | g.42405029C>T | CA500215867 | CAVIN1 | c.831G>A (p.Leu277=) | |
| 17 | g.42405030A>C | CA399583633 | CAVIN1 | c.830T>G (p.Leu277Arg) | |
| 17 | g.42405030A>G | CA399583638 | CAVIN1 | c.830T>C (p.Leu277Pro) | |
| 17 | g.42405030A>T | CA399583636 | CAVIN1 | c.830T>A (p.Leu277Gln) | |
| 17 | g.42405031G>A | CA8575795 | CAVIN1 | c.829C>T (p.Leu277=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42405031G>C | CA290750652 | CAVIN1 | c.829C>G (p.Leu277Val) | dbSNP gnomAD v4 |
| 17 | g.42405031G= | CA2260466927 | CAVIN1 | c.829C= (p.Leu277=) | |
| 17 | g.42405031G>T | CA399583645 | CAVIN1 | c.829C>A (p.Leu277Met) | |
| 17 | g.42405032C>A | CA399583648 | CAVIN1 | c.828G>T (p.Lys276Asn) | |
| 17 | g.42405032C>G | CA399583651 | CAVIN1 | c.828G>C (p.Lys276Asn) | |
| 17 | g.42405032C>T | CA500215876 | CAVIN1 | c.828G>A (p.Lys276=) | |
| 17 | g.42405033T>A | CA399583654 | CAVIN1 | c.827A>T (p.Lys276Met) | |
| 17 | g.42405033T>C | CA399583656 | CAVIN1 | c.827A>G (p.Lys276Arg) | dbSNP |
| 17 | g.42405033T>G | CA399583659 | CAVIN1 | c.827A>C (p.Lys276Thr) | |
| 17 | g.42405033T= | CA2260466928 | CAVIN1 | c.827A= (p.Lys276=) | |
| 17 | g.42405034T>A | CA399583664 | CAVIN1 | c.826A>T (p.Lys276Ter) | |
| 17 | g.42405034T>C | CA399583666 | CAVIN1 | c.826A>G (p.Lys276Glu) | |
| 17 | g.42405034T>G | CA399583669 | CAVIN1 | c.826A>C (p.Lys276Gln) | |
| 17 | g.42405035G>A | CA8575796 | CAVIN1 | c.825C>T (p.Asn275=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.42405035G>C | CA399583674 | CAVIN1 | c.825C>G (p.Asn275Lys) | |
| 17 | g.42405035G= | CA2260466929 | CAVIN1 | c.825C= (p.Asn275=) | |
| 17 | g.42405035G>T | CA399583672 | CAVIN1 | c.825C>A (p.Asn275Lys) | |
| 17 | g.42405036T>A | CA399583679 | CAVIN1 | c.824A>T (p.Asn275Ile) | dbSNP |
| 17 | g.42405036T>C | CA399583682 | CAVIN1 | c.824A>G (p.Asn275Ser) | |
| 17 | g.42405036T>G | CA399583685 | CAVIN1 | c.824A>C (p.Asn275Thr) | |
| 17 | g.42405036T= | CA2260466930 | CAVIN1 | c.824A= (p.Asn275=) | |
| 17 | g.42405037T>A | CA399583690 | CAVIN1 | c.823A>T (p.Asn275Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42405037T>C | CA399583693 | CAVIN1 | c.823A>G (p.Asn275Asp) | |
| 17 | g.42405037T>G | CA399583696 | CAVIN1 | c.823A>C (p.Asn275His) | |
| 17 | g.42405037T= | CA2260466931 | CAVIN1 | c.823A= (p.Asn275=) | |
| 17 | g.42405038C>A | CA399583699 | CAVIN1 | c.822G>T (p.Met274Ile) | |
| 17 | g.42405038C>G | CA399583701 | CAVIN1 | c.822G>C (p.Met274Ile) | |
| 17 | g.42405038C>T | CA399583705 | CAVIN1 | c.822G>A (p.Met274Ile) | |
| 17 | g.42405039A>C | CA399583706 | CAVIN1 | c.821T>G (p.Met274Arg) | |
| 17 | g.42405039A>G | CA399583708 | CAVIN1 | c.821T>C (p.Met274Thr) | gnomAD v4 |
| 17 | g.42405039A>T | CA399583711 | CAVIN1 | c.821T>A (p.Met274Lys) | |
| 17 | g.42405040T>A | CA399583716 | CAVIN1 | c.820A>T (p.Met274Leu) | |
| 17 | g.42405040T>C | CA399583714 | CAVIN1 | c.820A>G (p.Met274Val) | gnomAD v4 |
| 17 | g.42405040T>G | CA399583712 | CAVIN1 | c.820A>C (p.Met274Leu) | |
| 17 | g.42405041G>A | CA290750665 | CAVIN1 | c.819C>T (p.Arg273=) | dbSNP gnomAD v4 |
| 17 | g.42405041G>C | CA500215896 | CAVIN1 | c.819C>G (p.Arg273=) | |
| 17 | g.42405041G= | CA2260466932 | CAVIN1 | c.819C= (p.Arg273=) | |
| 17 | g.42405041G>T | CA500215897 | CAVIN1 | c.819C>A (p.Arg273=) | |
| 17 | g.42405041dup | CA2637956472 | CAVIN1 | c.819dup (p.Met274HisfsTer?) | gnomAD v4 |
| 17 | g.42405042C>A | CA399583724 | CAVIN1 | c.818G>T (p.Arg273Leu) | |
| 17 | g.42405042C>G | CA399583729 | CAVIN1 | c.818G>C (p.Arg273Pro) | |
| 17 | g.42405042C>T | CA399583727 | CAVIN1 | c.818G>A (p.Arg273His) | |
| 17 | g.42405043G>A | CA399583733 | CAVIN1 | c.817C>T (p.Arg273Cys) | dbSNP |
| 17 | g.42405043G>C | CA399583737 | CAVIN1 | c.817C>G (p.Arg273Gly) | dbSNP |
| 17 | g.42405043G= | CA2260466933 | CAVIN1 | c.817C= (p.Arg273=) | |
| 17 | g.42405043G>T | CA8575797 | CAVIN1 | c.817C>A (p.Arg273Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42405043_42405064delinsGCTTCTCCAGGGTGTGCCGCGT | CA2260466934 | CAVIN1 | c.796_817delinsACGCGGCACACCCTGGAGAAGC (p.Thr266=) | |
| 17 | g.42405044C>A | CA399583740 | CAVIN1 | c.816G>T (p.Lys272Asn) | |
| 17 | g.42405044C>G | CA399583743 | CAVIN1 | c.816G>C (p.Lys272Asn) | |
| 17 | g.42405044C>T | CA500215905 | CAVIN1 | c.816G>A (p.Lys272=) | |
| 17 | g.42405054_42405074del | CA626218352 | CAVIN1 | c.796_816del (p.Thr266_Lys272del) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42405045T>A | CA399583746 | CAVIN1 | c.815A>T (p.Lys272Met) | |
| 17 | g.42405045T>C | CA8575798 | CAVIN1 | c.815A>G (p.Lys272Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.42405045T>G | CA399583748 | CAVIN1 | c.815A>C (p.Lys272Thr) | |
| 17 | g.42405045T= | CA2260466935 | CAVIN1 | c.815A= (p.Lys272=) | |
| 17 | g.42405046T>A | CA399583752 | CAVIN1 | c.814A>T (p.Lys272Ter) | |
| 17 | g.42405046T>C | CA399583754 | CAVIN1 | c.814A>G (p.Lys272Glu) | |
| 17 | g.42405046T>G | CA399583757 | CAVIN1 | c.814A>C (p.Lys272Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42405046T= | CA2260466936 | CAVIN1 | c.814A= (p.Lys272=) | |
| 17 | g.42405047C>A | CA399583759 | CAVIN1 | c.813G>T (p.Glu271Asp) | |
| 17 | g.42405047C>G | CA399583762 | CAVIN1 | c.813G>C (p.Glu271Asp) | |
| 17 | g.42405047C>T | CA500215906 | CAVIN1 | c.813G>A (p.Glu271=) | gnomAD v4 |
| 17 | g.42405048T>A | CA399583767 | CAVIN1 | c.812A>T (p.Glu271Val) | |
| 17 | g.42405048T>C | CA399583768 | CAVIN1 | c.812A>G (p.Glu271Gly) | |
| 17 | g.42405048T>G | CA399583770 | CAVIN1 | c.812A>C (p.Glu271Ala) | |
| 17 | g.42405049C>A | CA399583774 | CAVIN1 | c.811G>T (p.Glu271Ter) | |
| 17 | g.42405049C= | CA2260466937 | CAVIN1 | c.811G= (p.Glu271=) | |
| 17 | g.42405049C>G | CA399583776 | CAVIN1 | c.811G>C (p.Glu271Gln) | |
| 17 | g.42405049C>T | CA399583779 | CAVIN1 | c.811G>A (p.Glu271Lys) | dbSNP gnomAD v4 |
| 17 | g.42405050C>A | CA500215919 | CAVIN1 | c.810G>T (p.Leu270=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42405050C= | CA2260466938 | CAVIN1 | c.810G= (p.Leu270=) | |
| 17 | g.42405050C>G | CA500215921 | CAVIN1 | c.810G>C (p.Leu270=) | |
| 17 | g.42405050C>T | CA500215917 | CAVIN1 | c.810G>A (p.Leu270=) | |
| 17 | g.42405051A>C | CA399583786 | CAVIN1 | c.809T>G (p.Leu270Arg) | |
| 17 | g.42405051A>G | CA399583782 | CAVIN1 | c.809T>C (p.Leu270Pro) | |
| 17 | g.42405051A>T | CA399583783 | CAVIN1 | c.809T>A (p.Leu270Gln) | |
| 17 | g.42405052G>A | CA500215922 | CAVIN1 | c.808C>T (p.Leu270=) | gnomAD v4 |
| 17 | g.42405052G>C | CA399583789 | CAVIN1 | c.808C>G (p.Leu270Val) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42405052G= | CA2260466939 | CAVIN1 | c.808C= (p.Leu270=) | |
| 17 | g.42405052G>T | CA399583791 | CAVIN1 | c.808C>A (p.Leu270Met) | |
| 17 | g.42405053G>A | CA500215925 | CAVIN1 | c.807C>T (p.Thr269=) | |
| 17 | g.42405053G>C | CA500215928 | CAVIN1 | c.807C>G (p.Thr269=) | |
| 17 | g.42405053G>T | CA500215931 | CAVIN1 | c.807C>A (p.Thr269=) | |
| 17 | g.42405053_42405055delinsGGT | CA2260466940 | CAVIN1 | c.805_807delinsACC (p.Thr269=) | |
| 17 | g.42405054G>A | CA399583795 | CAVIN1 | c.806C>T (p.Thr269Ile) | |
| 17 | g.42405054G>C | CA399583797 | CAVIN1 | c.806C>G (p.Thr269Ser) | |
| 17 | g.42405054G>T | CA399583800 | CAVIN1 | c.806C>A (p.Thr269Asn) | |
| 17 | g.42405057_42405058del | CA983833806 | CAVIN1 | c.805_806del (p.Thr269ProfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42405055T>A | CA399583805 | CAVIN1 | c.805A>T (p.Thr269Ser) | gnomAD v4 |
| 17 | g.42405055T>C | CA399583808 | CAVIN1 | c.805A>G (p.Thr269Ala) | |
| 17 | g.42405055T>G | CA399583811 | CAVIN1 | c.805A>C (p.Thr269Pro) | |
| 17 | g.42405056G>A | CA500215936 | CAVIN1 | c.804C>T (p.His268=) | gnomAD v4 |
| 17 | g.42405056G>C | CA399583814 | CAVIN1 | c.804C>G (p.His268Gln) | |
| 17 | g.42405056G>T | CA399583817 | CAVIN1 | c.804C>A (p.His268Gln) | gnomAD v4 |
| 17 | g.42405057T>A | CA399583822 | CAVIN1 | c.803A>T (p.His268Leu) | |
| 17 | g.42405057T>C | CA399583825 | CAVIN1 | c.803A>G (p.His268Arg) | |
| 17 | g.42405057T>G | CA399583820 | CAVIN1 | c.803A>C (p.His268Pro) | |
| 17 | g.42405058G>A | CA399583829 | CAVIN1 | c.802C>T (p.His268Tyr) | dbSNP gnomAD v4 |
| 17 | g.42405058G>C | CA399583835 | CAVIN1 | c.802C>G (p.His268Asp) | |
| 17 | g.42405058G= | CA2260466941 | CAVIN1 | c.802C= (p.His268=) | |
| 17 | g.42405058G>T | CA399583837 | CAVIN1 | c.802C>A (p.His268Asn) | |
| 17 | g.42405059C>A | CA500215946 | CAVIN1 | c.801G>T (p.Arg267=) | |
| 17 | g.42405059C>G | CA500215944 | CAVIN1 | c.801G>C (p.Arg267=) | |
| 17 | g.42405059C>T | CA500215945 | CAVIN1 | c.801G>A (p.Arg267=) | |
| 17 | g.42405060C>A | CA399583841 | CAVIN1 | c.800G>T (p.Arg267Leu) | |
| 17 | g.42405060C>G | CA399583842 | CAVIN1 | c.800G>C (p.Arg267Pro) | |
| 17 | g.42405060C>T | CA399583843 | CAVIN1 | c.800G>A (p.Arg267Gln) | gnomAD v4 COSMIC |
| 17 | g.42405077_42405109del | CA2637956473 | CAVIN1 | c.768_800del (p.Leu257_Arg267del) | gnomAD v4 |
| 17 | g.42405061G>A | CA399583844 | CAVIN1 | c.799C>T (p.Arg267Trp) | dbSNP COSMIC |
| 17 | g.42405061G>C | CA399583845 | CAVIN1 | c.799C>G (p.Arg267Gly) | |
| 17 | g.42405061G= | CA2260466942 | CAVIN1 | c.799C= (p.Arg267=) | |
| 17 | g.42405061G>T | CA500215947 | CAVIN1 | c.799C>A (p.Arg267=) | |
| 17 | g.42405062C>A | CA500215949 | CAVIN1 | c.798G>T (p.Thr266=) | |
| 17 | g.42405062C= | CA2260466943 | CAVIN1 | c.798G= (p.Thr266=) | |
| 17 | g.42405062C>G | CA500215950 | CAVIN1 | c.798G>C (p.Thr266=) | |
| 17 | g.42405062C>T | CA500215948 | CAVIN1 | c.798G>A (p.Thr266=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42405063G>A | CA399583848 | CAVIN1 | c.797C>T (p.Thr266Met) | dbSNP COSMIC |
| 17 | g.42405063G>C | CA399583851 | CAVIN1 | c.797C>G (p.Thr266Arg) | |
| 17 | g.42405063G= | CA2260466944 | CAVIN1 | c.797C= (p.Thr266=) | |
| 17 | g.42405063G>T | CA399583854 | CAVIN1 | c.797C>A (p.Thr266Lys) | |
| 17 | g.42405064T>A | CA399583856 | CAVIN1 | c.796A>T (p.Thr266Ser) | |
| 17 | g.42405064T>C | CA399583858 | CAVIN1 | c.796A>G (p.Thr266Ala) | |
| 17 | g.42405064T>G | CA399583860 | CAVIN1 | c.796A>C (p.Thr266Pro) | |
| 17 | g.42405065C>A | CA399583863 | CAVIN1 | c.795G>T (p.Lys265Asn) | |
| 17 | g.42405065C>G | CA399583866 | CAVIN1 | c.795G>C (p.Lys265Asn) | |
| 17 | g.42405065C>T | CA500215956 | CAVIN1 | c.795G>A (p.Lys265=) | |
| 17 | g.42405066T>A | CA399583868 | CAVIN1 | c.794A>T (p.Lys265Met) | |
| 17 | g.42405066T>C | CA399583871 | CAVIN1 | c.794A>G (p.Lys265Arg) | |
| 17 | g.42405066T>G | CA399583872 | CAVIN1 | c.794A>C (p.Lys265Thr) | |
| 17 | g.42405067T>A | CA399583874 | CAVIN1 | c.793A>T (p.Lys265Ter) | |
| 17 | g.42405067T>C | CA399583877 | CAVIN1 | c.793A>G (p.Lys265Glu) | |
| 17 | g.42405067T>G | CA399583883 | CAVIN1 | c.793A>C (p.Lys265Gln) | |
| 17 | g.42405068C>A | CA399583886 | CAVIN1 | c.792G>T (p.Glu264Asp) | |
| 17 | g.42405068C= | CA2260466945 | CAVIN1 | c.792G= (p.Glu264=) | |
| 17 | g.42405068C>G | CA399583889 | CAVIN1 | c.792G>C (p.Glu264Asp) | |
| 17 | g.42405068C>T | CA8575799 | CAVIN1 | c.792G>A (p.Glu264=) | dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.42405069T>A | CA399583896 | CAVIN1 | c.791A>T (p.Glu264Val) | |
| 17 | g.42405069T>C | CA399583897 | CAVIN1 | c.791A>G (p.Glu264Gly) | |
| 17 | g.42405069T>G | CA399583900 | CAVIN1 | c.791A>C (p.Glu264Ala) | |
| 17 | g.42405070C>A | CA399583914 | CAVIN1 | c.790G>T (p.Glu264Ter) | |
| 17 | g.42405070C>G | CA399583912 | CAVIN1 | c.790G>C (p.Glu264Gln) | |
| 17 | g.42405070C>T | CA399583909 | CAVIN1 | c.790G>A (p.Glu264Lys) | gnomAD v4 |
| 17 | g.42405071C>A | CA500215974 | CAVIN1 | c.789G>T (p.Leu263=) | |
| 17 | g.42405071C>G | CA500215975 | CAVIN1 | c.789G>C (p.Leu263=) | |
| 17 | g.42405071C>T | CA500215973 | CAVIN1 | c.789G>A (p.Leu263=) | |
| 17 | g.42405072A>C | CA399583918 | CAVIN1 | c.788T>G (p.Leu263Arg) | |
| 17 | g.42405072A>G | CA399583921 | CAVIN1 | c.788T>C (p.Leu263Pro) | |
| 17 | g.42405072A>T | CA399583924 | CAVIN1 | c.788T>A (p.Leu263Gln) | |
| 17 | g.42405073G>A | CA500215978 | CAVIN1 | c.787C>T (p.Leu263=) | |
| 17 | g.42405073G>C | CA399583927 | CAVIN1 | c.787C>G (p.Leu263Val) | |
| 17 | g.42405073G>T | CA399583938 | CAVIN1 | c.787C>A (p.Leu263Met) | |
| 17 | g.42405074G>A | CA500215979 | CAVIN1 | c.786C>T (p.Asn262=) | gnomAD v4 |
| 17 | g.42405074G>C | CA399583943 | CAVIN1 | c.786C>G (p.Asn262Lys) | gnomAD v4 |
| 17 | g.42405074G>T | CA399583950 | CAVIN1 | c.786C>A (p.Asn262Lys) | COSMIC |
| 17 | g.42405075T>A | CA399583962 | CAVIN1 | c.785A>T (p.Asn262Ile) | |
| 17 | g.42405075T>C | CA399583955 | CAVIN1 | c.785A>G (p.Asn262Ser) | |
| 17 | g.42405075T>G | CA399583959 | CAVIN1 | c.785A>C (p.Asn262Thr) | |
| 17 | g.42405076T>A | CA399583968 | CAVIN1 | c.784A>T (p.Asn262Tyr) | |
| 17 | g.42405076T>C | CA399583970 | CAVIN1 | c.784A>G (p.Asn262Asp) | |
| 17 | g.42405076T>G | CA399583971 | CAVIN1 | c.784A>C (p.Asn262His) | |
| 17 | g.42405077T>A | CA399583974 | CAVIN1 | c.783A>T (p.Glu261Asp) | |
| 17 | g.42405077T>C | CA500215985 | CAVIN1 | c.783A>G (p.Glu261=) | gnomAD v4 |
| 17 | g.42405077T>G | CA399583975 | CAVIN1 | c.783A>C (p.Glu261Asp) | |
| 17 | g.42405078T>A | CA399583976 | CAVIN1 | c.782A>T (p.Glu261Val) | |
| 17 | g.42405078T>C | CA399583979 | CAVIN1 | c.782A>G (p.Glu261Gly) | |
| 17 | g.42405078T>G | CA399583977 | CAVIN1 | c.782A>C (p.Glu261Ala) | |
| 17 | g.42405079C>A | CA399583982 | CAVIN1 | c.781G>T (p.Glu261Ter) | |
| 17 | g.42405079C= | CA2260466946 | CAVIN1 | c.781G= (p.Glu261=) | |
| 17 | g.42405079C>G | CA399583984 | CAVIN1 | c.781G>C (p.Glu261Gln) | |
| 17 | g.42405079C>T | CA290750705 | CAVIN1 | c.781G>A (p.Glu261Lys) | dbSNP |
| 17 | g.42405080C>A | CA399583990 | CAVIN1 | c.780G>T (p.Lys260Asn) | gnomAD v4 |
| 17 | g.42405080C= | CA2260466947 | CAVIN1 | c.780G= (p.Lys260=) | |
| 17 | g.42405080C>G | CA399583992 | CAVIN1 | c.780G>C (p.Lys260Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42405080C>T | CA500215995 | CAVIN1 | c.780G>A (p.Lys260=) | gnomAD v4 |
| 17 | g.42405081T>A | CA399583995 | CAVIN1 | c.779A>T (p.Lys260Met) | |
| 17 | g.42405081T>C | CA8575800 | CAVIN1 | c.779A>G (p.Lys260Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.42405081T>G | CA399583996 | CAVIN1 | c.779A>C (p.Lys260Thr) | |
| 17 | g.42405081T= | CA2260466948 | CAVIN1 | c.779A= (p.Lys260=) | |
| 17 | g.42405082T>A | CA399583998 | CAVIN1 | c.778A>T (p.Lys260Ter) | |
| 17 | g.42405082T>C | CA399584001 | CAVIN1 | c.778A>G (p.Lys260Glu) | |
| 17 | g.42405082T>G | CA399584006 | CAVIN1 | c.778A>C (p.Lys260Gln) | |
| 17 | g.42405083G>A | CA290750730 | CAVIN1 | c.777C>T (p.Thr259=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42405083G>C | CA500216001 | CAVIN1 | c.777C>G (p.Thr259=) | gnomAD v4 |
| 17 | g.42405083G= | CA2260466949 | CAVIN1 | c.777C= (p.Thr259=) | |
| 17 | g.42405083G>T | CA500216002 | CAVIN1 | c.777C>A (p.Thr259=) | |
| 17 | g.42405084G>A | CA399584008 | CAVIN1 | c.776C>T (p.Thr259Ile) | |
| 17 | g.42405084G>C | CA399584013 | CAVIN1 | c.776C>G (p.Thr259Ser) | |
| 17 | g.42405084G>T | CA399584011 | CAVIN1 | c.776C>A (p.Thr259Asn) | |
| 17 | g.42405085T>A | CA399584015 | CAVIN1 | c.775A>T (p.Thr259Ser) | |
| 17 | g.42405085T>C | CA399584016 | CAVIN1 | c.775A>G (p.Thr259Ala) | |
| 17 | g.42405085T>G | CA399584020 | CAVIN1 | c.775A>C (p.Thr259Pro) | |
| 17 | g.42405086C>A | CA399584023 | CAVIN1 | c.774G>T (p.Lys258Asn) | |
| 17 | g.42405086C>G | CA399584025 | CAVIN1 | c.774G>C (p.Lys258Asn) | |
| 17 | g.42405086C>T | CA500216008 | CAVIN1 | c.774G>A (p.Lys258=) | |
| 17 | g.42405087T>A | CA399584027 | CAVIN1 | c.773A>T (p.Lys258Met) | |
| 17 | g.42405087T>C | CA399584029 | CAVIN1 | c.773A>G (p.Lys258Arg) | dbSNP |
| 17 | g.42405087T>G | CA399584031 | CAVIN1 | c.773A>C (p.Lys258Thr) | |
| 17 | g.42405087T= | CA2260466950 | CAVIN1 | c.773A= (p.Lys258=) | |
| 17 | g.42405088T>A | CA399584032 | CAVIN1 | c.772A>T (p.Lys258Ter) | |
| 17 | g.42405088T>C | CA399584034 | CAVIN1 | c.772A>G (p.Lys258Glu) | |
| 17 | g.42405088T>G | CA399584042 | CAVIN1 | c.772A>C (p.Lys258Gln) | |
| 17 | g.42405089G>A | CA500216019 | CAVIN1 | c.771C>T (p.Leu257=) | COSMIC |
| 17 | g.42405089G>C | CA500216017 | CAVIN1 | c.771C>G (p.Leu257=) | |
| 17 | g.42405089G>T | CA500216018 | CAVIN1 | c.771C>A (p.Leu257=) | |
| 17 | g.42405090del | CA2637956474 | CAVIN1 | c.770del (p.Leu257ProfsTer18) | gnomAD v4 |
| 17 | g.42405090A= | CA2260466951 | CAVIN1 | c.770T= (p.Leu257=) | |
| 17 | g.42405090A>C | CA399584049 | CAVIN1 | c.770T>G (p.Leu257Arg) | |
| 17 | g.42405090A>G | CA399584046 | CAVIN1 | c.770T>C (p.Leu257Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42405090A>T | CA399584044 | CAVIN1 | c.770T>A (p.Leu257His) | |
| 17 | g.42405091G>A | CA399584050 | CAVIN1 | c.769C>T (p.Leu257Phe) | |
| 17 | g.42405091G>C | CA399584051 | CAVIN1 | c.769C>G (p.Leu257Val) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42405091G= | CA2260466952 | CAVIN1 | c.769C= (p.Leu257=) | |
| 17 | g.42405091G>T | CA399584053 | CAVIN1 | c.769C>A (p.Leu257Ile) | |
| 17 | g.42405092G>A | CA500216025 | CAVIN1 | c.768C>T (p.Arg256=) | |
| 17 | g.42405092G>C | CA500216027 | CAVIN1 | c.768C>G (p.Arg256=) | |
| 17 | g.42405092G>T | CA500216026 | CAVIN1 | c.768C>A (p.Arg256=) | |
| 17 | g.42405093C>A | CA399584058 | CAVIN1 | c.767G>T (p.Arg256Leu) | |
| 17 | g.42405093C= | CA2260466953 | CAVIN1 | c.767G= (p.Arg256=) | |
| 17 | g.42405093C>G | CA399584061 | CAVIN1 | c.767G>C (p.Arg256Pro) | |
| 17 | g.42405093C>T | CA8575801 | CAVIN1 | c.767G>A (p.Arg256His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.42405094G>A | CA399584069 | CAVIN1 | c.766C>T (p.Arg256Cys) | gnomAD v4 COSMIC |
| 17 | g.42405094G>C | CA399584072 | CAVIN1 | c.766C>G (p.Arg256Gly) | |
| 17 | g.42405094G>T | CA399584079 | CAVIN1 | c.766C>A (p.Arg256Ser) | gnomAD v4 |
| 17 | g.42405095C>A | CA500216032 | CAVIN1 | c.765G>T (p.Thr255=) | |
| 17 | g.42405095C= | CA2260466954 | CAVIN1 | c.765G= (p.Thr255=) | |
| 17 | g.42405095C>G | CA500216034 | CAVIN1 | c.765G>C (p.Thr255=) | |
| 17 | g.42405095C>T | CA290750748 | CAVIN1 | c.765G>A (p.Thr255=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42405096G>A | CA399584080 | CAVIN1 | c.764C>T (p.Thr255Met) | dbSNP gnomAD v4 COSMIC |
| 17 | g.42405096G>C | CA399584082 | CAVIN1 | c.764C>G (p.Thr255Arg) | |
| 17 | g.42405096G= | CA2260466955 | CAVIN1 | c.764C= (p.Thr255=) | |
| 17 | g.42405096G>T | CA399584084 | CAVIN1 | c.764C>A (p.Thr255Lys) | |
| 17 | g.42405097T>A | CA399584097 | CAVIN1 | c.763A>T (p.Thr255Ser) | gnomAD v4 |
| 17 | g.42405097T>C | CA399584092 | CAVIN1 | c.763A>G (p.Thr255Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42405097T>G | CA399584088 | CAVIN1 | c.763A>C (p.Thr255Pro) | |
| 17 | g.42405097T= | CA2260466956 | CAVIN1 | c.763A= (p.Thr255=) | |
| 17 | g.42405098C>A | CA399584103 | CAVIN1 | c.762G>T (p.Lys254Asn) | |
| 17 | g.42405098C>G | CA399584105 | CAVIN1 | c.762G>C (p.Lys254Asn) | |
| 17 | g.42405098C>T | CA500216038 | CAVIN1 | c.762G>A (p.Lys254=) | |
| 17 | g.42405099T>A | CA399584106 | CAVIN1 | c.761A>T (p.Lys254Met) | |
| 17 | g.42405099T>C | CA399584108 | CAVIN1 | c.761A>G (p.Lys254Arg) | |
| 17 | g.42405099T>G | CA290750766 | CAVIN1 | c.761A>C (p.Lys254Thr) | dbSNP |
| 17 | g.42405099T= | CA2260466957 | CAVIN1 | c.761A= (p.Lys254=) | |
| 17 | g.42405100T>A | CA399584112 | CAVIN1 | c.760A>T (p.Lys254Ter) | |
| 17 | g.42405100T>C | CA399584116 | CAVIN1 | c.760A>G (p.Lys254Glu) | |
| 17 | g.42405100T>G | CA399584121 | CAVIN1 | c.760A>C (p.Lys254Gln) | |
| 17 | g.42405101C>A | CA399584135 | CAVIN1 | c.759G>T (p.Glu253Asp) | |
| 17 | g.42405101C>G | CA399584124 | CAVIN1 | c.759G>C (p.Glu253Asp) | gnomAD v4 |
| 17 | g.42405101C>T | CA500216043 | CAVIN1 | c.759G>A (p.Glu253=) | gnomAD v4 |
| 17 | g.42405102T>A | CA399584138 | CAVIN1 | c.758A>T (p.Glu253Val) | |
| 17 | g.42405102T>C | CA399584140 | CAVIN1 | c.758A>G (p.Glu253Gly) | gnomAD v4 |
| 17 | g.42405102T>G | CA399584146 | CAVIN1 | c.758A>C (p.Glu253Ala) | |
| 17 | g.42405103C>A | CA399584149 | CAVIN1 | c.757G>T (p.Glu253Ter) | |
| 17 | g.42405103C= | CA2260466958 | CAVIN1 | c.757G= (p.Glu253=) | |
| 17 | g.42405103C>G | CA8575803 | CAVIN1 | c.757G>C (p.Glu253Gln) | dbSNP ExAC |
| 17 | g.42405103C>T | CA8575802 | CAVIN1 | c.757G>A (p.Glu253Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42405104C>A | CA500216047 | CAVIN1 | c.756G>T (p.Leu252=) | |
| 17 | g.42405104C>G | CA500216050 | CAVIN1 | c.756G>C (p.Leu252=) | |
| 17 | g.42405104C>T | CA500216048 | CAVIN1 | c.756G>A (p.Leu252=) | |
| 17 | g.42405105A>C | CA399584158 | CAVIN1 | c.755T>G (p.Leu252Arg) | |
| 17 | g.42405105A>G | CA399584155 | CAVIN1 | c.755T>C (p.Leu252Pro) | |
| 17 | g.42405105A>T | CA399584157 | CAVIN1 | c.755T>A (p.Leu252Gln) | |
| 17 | g.42405106G>A | CA500216054 | CAVIN1 | c.754C>T (p.Leu252=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42405106G>C | CA399584159 | CAVIN1 | c.754C>G (p.Leu252Val) | |
| 17 | g.42405106G= | CA2260466959 | CAVIN1 | c.754C= (p.Leu252=) | |
| 17 | g.42405106G>T | CA399584160 | CAVIN1 | c.754C>A (p.Leu252Met) | |
| 17 | g.42405107del | CA2733865873 | CAVIN1 | c.754del (p.Leu252TrpfsTer23) | dbSNP |
| 17 | g.42405107G>A | CA500216057 | CAVIN1 | c.753C>T (p.Asn251=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42405107G>C | CA399584161 | CAVIN1 | c.753C>G (p.Asn251Lys) | |
| 17 | g.42405107G= | CA2260466960 | CAVIN1 | c.753C= (p.Asn251=) | |
| 17 | g.42405107G>T | CA290750799 | CAVIN1 | c.753C>A (p.Asn251Lys) | dbSNP |
| 17 | g.42405108T>A | CA399584165 | CAVIN1 | c.752A>T (p.Asn251Ile) | |
| 17 | g.42405108T>C | CA399584171 | CAVIN1 | c.752A>G (p.Asn251Ser) | |
| 17 | g.42405108T>G | CA399584173 | CAVIN1 | c.752A>C (p.Asn251Thr) | |
| 17 | g.42405109T>A | CA399584178 | CAVIN1 | c.751A>T (p.Asn251Tyr) | |
| 17 | g.42405109T>C | CA399584180 | CAVIN1 | c.751A>G (p.Asn251Asp) | |
| 17 | g.42405109T>G | CA399584181 | CAVIN1 | c.751A>C (p.Asn251His) | |
| 17 | g.42405110C>A | CA399584186 | CAVIN1 | c.750G>T (p.Glu250Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42405110C= | CA2260466961 | CAVIN1 | c.750G= (p.Glu250=) | |
| 17 | g.42405110C>G | CA399584192 | CAVIN1 | c.750G>C (p.Glu250Asp) | |
| 17 | g.42405110C>T | CA500216062 | CAVIN1 | c.750G>A (p.Glu250=) | |
| 17 | g.42405111T>A | CA399584194 | CAVIN1 | c.749A>T (p.Glu250Val) | |
| 17 | g.42405111T>C | CA399584202 | CAVIN1 | c.749A>G (p.Glu250Gly) | |
| 17 | g.42405111T>G | CA399584196 | CAVIN1 | c.749A>C (p.Glu250Ala) | |
| 17 | g.42405112C>A | CA399584205 | CAVIN1 | c.748G>T (p.Glu250Ter) | |
| 17 | g.42405112C>G | CA399584207 | CAVIN1 | c.748G>C (p.Glu250Gln) | |
| 17 | g.42405112C>T | CA399584208 | CAVIN1 | c.748G>A (p.Glu250Lys) | |
| 17 | g.42405113G>A | CA500216069 | CAVIN1 | c.747C>T (p.Arg249=) | gnomAD v4 |
| 17 | g.42405113G>C | CA500216068 | CAVIN1 | c.747C>G (p.Arg249=) | |
| 17 | g.42405113G>T | CA500216070 | CAVIN1 | c.747C>A (p.Arg249=) | |
| 17 | g.42405114C>A | CA399584210 | CAVIN1 | c.746G>T (p.Arg249Leu) | gnomAD v4 |
| 17 | g.42405114C>G | CA399584211 | CAVIN1 | c.746G>C (p.Arg249Pro) | |
| 17 | g.42405114C>T | CA399584213 | CAVIN1 | c.746G>A (p.Arg249His) | |
| 17 | g.42405115G>A | CA399584215 | CAVIN1 | c.745C>T (p.Arg249Cys) | |
| 17 | g.42405115G>C | CA399584218 | CAVIN1 | c.745C>G (p.Arg249Gly) | gnomAD v4 |
| 17 | g.42405115G>T | CA399584222 | CAVIN1 | c.745C>A (p.Arg249Ser) | gnomAD v4 |
| 17 | g.42405116G>A | CA500216076 | CAVIN1 | c.744C>T (p.Thr248=) | |
| 17 | g.42405116G>C | CA500216079 | CAVIN1 | c.744C>G (p.Thr248=) | |
| 17 | g.42405116G>T | CA500216078 | CAVIN1 | c.744C>A (p.Thr248=) | |
| 17 | g.42405117G>A | CA399584224 | CAVIN1 | c.743C>T (p.Thr248Ile) | |
| 17 | g.42405117G>C | CA399584225 | CAVIN1 | c.743C>G (p.Thr248Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42405117G= | CA2260466962 | CAVIN1 | c.743C= (p.Thr248=) | |
| 17 | g.42405117G>T | CA399584226 | CAVIN1 | c.743C>A (p.Thr248Asn) | |
| 17 | g.42405118T>A | CA399584235 | CAVIN1 | c.742A>T (p.Thr248Ser) | |
| 17 | g.42405118T>C | CA399584228 | CAVIN1 | c.742A>G (p.Thr248Ala) | gnomAD v4 |
| 17 | g.42405118T>G | CA399584231 | CAVIN1 | c.742A>C (p.Thr248Pro) | |
| 17 | g.42405119A>C | CA500216083 | CAVIN1 | c.741T>G (p.Arg247=) | |
| 17 | g.42405119A>G | CA500216082 | CAVIN1 | c.741T>C (p.Arg247=) | gnomAD v4 |
| 17 | g.42405119A>T | CA500216084 | CAVIN1 | c.741T>A (p.Arg247=) | |
| 17 | g.42405120C>A | CA399584236 | CAVIN1 | c.740G>T (p.Arg247Leu) | gnomAD v4 |
| 17 | g.42405120C= | CA2260466963 | CAVIN1 | c.740G= (p.Arg247=) | |
| 17 | g.42405120C>G | CA399584239 | CAVIN1 | c.740G>C (p.Arg247Pro) | |
| 17 | g.42405120C>T | CA399584244 | CAVIN1 | c.740G>A (p.Arg247His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.42405121G>A | CA399584247 | CAVIN1 | c.739C>T (p.Arg247Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42405121G>C | CA399584248 | CAVIN1 | c.739C>G (p.Arg247Gly) | |
| 17 | g.42405121G= | CA2260466964 | CAVIN1 | c.739C= (p.Arg247=) | |
| 17 | g.42405121G>T | CA399584249 | CAVIN1 | c.739C>A (p.Arg247Ser) |