Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.7184640_7184642delinsGGA | CA2573050353 | INSR | c.653-5_653-3delinsTCC (n.653-5_653-3delinsTCC) n.628-5_628-3delinsTCC c.731-5_731-3delinsTCC (n.731-5_731-3delinsTCC) | |
19 | g.7184640_7184643del | CA2587926232 | INSR | c.653-6_653-3del (n.653-6_653-3del) n.628-6_628-3del c.731-6_731-3del (n.731-6_731-3del) | gnomAD v4 |
19 | g.7184640_7184643dup | CA9136039 | INSR | c.653-6_653-3dup (n.653-6_653-3dup) n.628-6_628-3dup c.731-6_731-3dup (n.731-6_731-3dup) | dbSNP ExAC |
19 | g.7184640_7184652delinsGGAGAGAGAGAGA | CA2320795939 | INSR | c.653-15_653-3delinsTCTCTCTCTCTCC (n.653-15_653-3delinsTCTCTCTCTCTCC) n.628-15_628-3delinsTCTCTCTCTCTCC c.731-15_731-3delinsTCTCTCTCTCTCC (n.731-15_731-3delinsTCTCTCTCTCTCC) | |
19 | g.7184641_7184642delinsGA | CA2320795953 | INSR | c.653-5_653-4delinsTC (n.653-5_653-4delinsTC) n.628-5_628-4delinsTC c.731-5_731-4delinsTC (n.731-5_731-4delinsTC) | |
19 | g.7184661_7184662insAGAGAGAGAGAGAGAGAGAGAG | CA884188302 | INSR | c.653-4_653-3insTCTCTCTCTCTCTCTCTCTCTC (n.653-4_653-3insTCTCTCTCTCTCTCTCTCTCTC) n.628-4_628-3insTCTCTCTCTCTCTCTCTCTCTC c.731-4_731-3insTCTCTCTCTCTCTCTCTCTCTC (n.731-4_731-3insTCTCTCTCTCTCTCTCTCTCTC) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.7184661_7184662insAGAGAGAGAGAGAGAGAGAGAGAG | CA884188303 | INSR | c.653-4_653-3insTCTCTCTCTCTCTCTCTCTCTCTC (n.653-4_653-3insTCTCTCTCTCTCTCTCTCTCTCTC) n.628-4_628-3insTCTCTCTCTCTCTCTCTCTCTCTC c.731-4_731-3insTCTCTCTCTCTCTCTCTCTCTCTC (n.731-4_731-3insTCTCTCTCTCTCTCTCTCTCTCTC) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.7184661_7184662insAGAGAGAGAGAGAGAGAGAGAGAGAGAG | CA993124747 | INSR | c.653-4_653-3insTCTCTCTCTCTCTCTCTCTCTCTCTCTC (n.653-4_653-3insTCTCTCTCTCTCTCTCTCTCTCTCTCTC) n.628-4_628-3insTCTCTCTCTCTCTCTCTCTCTCTCTCTC c.731-4_731-3insTCTCTCTCTCTCTCTCTCTCTCTCTCTC (n.731-4_731-3insTCTCTCTCTCTCTCTCTCTCTCTCTCTC) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.7184661_7184662insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG | CA993124751 | INSR | c.653-4_653-3insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC (n.653-4_653-3insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC) n.628-4_628-3insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC c.731-4_731-3insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC (n.731-4_731-3insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.7184660_7184661dup | CA209282 | INSR | c.653-5_653-4dup (n.653-5_653-4dup) n.628-5_628-4dup c.731-5_731-4dup (n.731-5_731-4dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7184658_7184661dup | CA9136040 | INSR | c.653-7_653-4dup (n.653-7_653-4dup) n.628-7_628-4dup c.731-7_731-4dup (n.731-7_731-4dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7184656_7184661dup | CA9136043 | INSR | c.653-9_653-4dup (n.653-9_653-4dup) n.628-9_628-4dup c.731-9_731-4dup (n.731-9_731-4dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7184654_7184661dup | CA9136042 | INSR | c.653-11_653-4dup (n.653-11_653-4dup) n.628-11_628-4dup c.731-11_731-4dup (n.731-11_731-4dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7184652_7184661dup | CA884188296 | INSR | c.653-13_653-4dup (n.653-13_653-4dup) n.628-13_628-4dup c.731-13_731-4dup (n.731-13_731-4dup) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.7184650_7184661dup | CA884188297 | INSR | c.653-15_653-4dup (n.653-15_653-4dup) n.628-15_628-4dup c.731-15_731-4dup (n.731-15_731-4dup) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.7184648_7184661dup | CA884188298 | INSR | c.653-17_653-4dup (n.653-17_653-4dup) n.628-17_628-4dup c.731-17_731-4dup (n.731-17_731-4dup) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.7184646_7184661dup | CA884188299 | INSR | c.653-19_653-4dup (n.653-19_653-4dup) n.628-19_628-4dup c.731-19_731-4dup (n.731-19_731-4dup) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.7184644_7184661dup | CA993124760 | INSR | c.653-21_653-4dup (n.653-21_653-4dup) n.628-21_628-4dup c.731-21_731-4dup (n.731-21_731-4dup) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.7184642_7184661dup | CA631723710 | INSR | c.653-23_653-4dup (n.653-23_653-4dup) n.628-23_628-4dup c.731-23_731-4dup (n.731-23_731-4dup) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7184660_7184661del | CA248797 | INSR | c.653-5_653-4del (n.653-5_653-4del) n.628-5_628-4del c.731-5_731-4del (n.731-5_731-4del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.7184658_7184661del | CA9136041 | INSR | c.653-7_653-4del (n.653-7_653-4del) n.628-7_628-4del c.731-7_731-4del (n.731-7_731-4del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7184656_7184661del | CA304866810 | INSR | c.653-9_653-4del (n.653-9_653-4del) n.628-9_628-4del c.731-9_731-4del (n.731-9_731-4del) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.7184654_7184661del | CA884188307 | INSR | c.653-11_653-4del (n.653-11_653-4del) n.628-11_628-4del c.731-11_731-4del (n.731-11_731-4del) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.7184652_7184661del | CA2580613034 | INSR | c.653-13_653-4del (n.653-13_653-4del) n.628-13_628-4del c.731-13_731-4del (n.731-13_731-4del) | ClinVar gnomAD v4 |
19 | g.7184650_7184661del | CA2320795969 | INSR | c.653-15_653-4del (n.653-15_653-4del) n.628-15_628-4del c.731-15_731-4del (n.731-15_731-4del) | dbSNP gnomAD v4 |
19 | g.7184642del | CA920049411 | INSR | c.653-5del (n.653-5del) n.628-5del c.731-5del (n.731-5del) | dbSNP gnomAD v4 |
19 | g.7184642A= | CA2320795977 | INSR | c.653-5T= (n.653-5T=) n.628-5T= c.731-5T= (n.731-5T=) | |
19 | g.7184642A>G | CA2320795978 | INSR | c.653-5T>C (n.653-5T>C) n.628-5T>C c.731-5T>C (n.731-5T>C) | dbSNP |
19 | g.7184642_7184644del | CA2587926293 | INSR | c.653-7_653-5del (n.653-7_653-5del) n.628-7_628-5del c.731-7_731-5del (n.731-7_731-5del) | gnomAD v4 |
19 | g.7184643del | CA2587926296 | INSR | c.653-6del (n.653-6del) n.628-6del c.731-6del (n.731-6del) | gnomAD v4 |
19 | g.7184643G>A | CA9136046 | INSR | c.653-6C>T (n.653-6C>T) n.628-6C>T c.731-6C>T (n.731-6C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7184643G>C | CA9136045 | INSR | c.653-6C>G (n.653-6C>G) n.628-6C>G c.731-6C>G (n.731-6C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7184643G= | CA2320795990 | INSR | c.653-6C= (n.653-6C=) n.628-6C= c.731-6C= (n.731-6C=) | |
19 | g.7184643_7184644insGG | CA631723711 | INSR | c.653-6_653-5insCC (n.653-6_653-5insCC) n.628-6_628-5insCC c.731-6_731-5insCC (n.731-6_731-5insCC) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7184643_7184644delinsGA | CA2320795991 | INSR | c.653-7_653-6delinsTC (n.653-7_653-6delinsTC) n.628-7_628-6delinsTC c.731-7_731-6delinsTC (n.731-7_731-6delinsTC) | |
19 | g.7184643_7184646delinsGAGA | CA2320795988 | INSR | c.653-9_653-6delinsTCTC (n.653-9_653-6delinsTCTC) n.628-9_628-6delinsTCTC c.731-9_731-6delinsTCTC (n.731-9_731-6delinsTCTC) | |
19 | g.7184643_7184644insGA | CA645373220 | INSR | c.653-7_653-6insTC (n.653-7_653-6insTC) n.628-7_628-6insTC c.731-7_731-6insTC (n.731-7_731-6insTC) | ClinVar dbSNP |
19 | g.7184644del | CA9136044 | INSR | c.653-7del (n.653-7del) n.628-7del c.731-7del (n.731-7del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7184644A= | CA2320796001 | INSR | c.653-7T= (n.653-7T=) n.628-7T= c.731-7T= (n.731-7T=) | |
19 | g.7184644A>G | CA9136047 | INSR | c.653-7T>C (n.653-7T>C) n.628-7T>C c.731-7T>C (n.731-7T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7184644_7184646delinsG | CA913190457 | INSR | c.653-9_653-7delinsC (n.653-9_653-7delinsC) n.628-9_628-7delinsC c.731-9_731-7delinsC (n.731-9_731-7delinsC) | ClinVar dbSNP |
19 | g.7184645del | CA403670826 | INSR | c.653-8del (n.653-8del) n.628-8del c.731-8del (n.731-8del) | gnomAD v4 |
19 | g.7184645G>A | CA2587926299 | INSR | c.653-8C>T (n.653-8C>T) n.628-8C>T c.731-8C>T (n.731-8C>T) | gnomAD v4 |
19 | g.7184645G>C | CA2587926300 | INSR | c.653-8C>G (n.653-8C>G) n.628-8C>G c.731-8C>G (n.731-8C>G) | gnomAD v4 |
19 | g.7184645G>T | CA2587926298 | INSR | c.653-8C>A (n.653-8C>A) n.628-8C>A c.731-8C>A (n.731-8C>A) | gnomAD v4 |
19 | g.7184645_7184646delinsGA | CA2320796009 | INSR | c.653-9_653-8delinsTC (n.653-9_653-8delinsTC) n.628-9_628-8delinsTC c.731-9_731-8delinsTC (n.731-9_731-8delinsTC) | |
19 | g.7184645_7184648delinsGAGA | CA2320796011 | INSR | c.653-11_653-8delinsTCTC (n.653-11_653-8delinsTCTC) n.628-11_628-8delinsTCTC c.731-11_731-8delinsTCTC (n.731-11_731-8delinsTCTC) | |
19 | g.7184646del | CA9136048 | INSR | c.653-9del (n.653-9del) n.628-9del c.731-9del (n.731-9del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7184646A= | CA2320796016 | INSR | c.653-9T= (n.653-9T=) n.628-9T= c.731-9T= (n.731-9T=) | |
19 | g.7184646A>G | CA304866835 | INSR | c.653-9T>C (n.653-9T>C) n.628-9T>C c.731-9T>C (n.731-9T>C) | ClinVar dbSNP gnomAD v4 |