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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allow us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.173234536G>A | CA807696991 | NKX2-5 | c.334+214C>T (n.334+214C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.173234536G= | CA1601616832 | NKX2-5 | c.334+214C= (n.334+214C=) | |
| 5 | g.173234537C= | CA1601616833 | NKX2-5 | c.334+213G= (n.334+213G=) | |
| 5 | g.173234537C>T | CA1084496646 | NKX2-5 | c.334+213G>A (n.334+213G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.173234539_173234541dup | CA132260224 | NKX2-5 | c.334+211_334+213dup (n.334+211_334+213dup) | dbSNP |
| 5 | g.173234538_173234541dup | CA132260227 | NKX2-5 | c.334+209_334+212dup (n.334+209_334+212dup) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173234540C>T | CA2543744383 | NKX2-5 | c.334+210G>A (n.334+210G>A) | |
| 5 | g.173234542G>A | CA2710699833 | NKX2-5 | c.334+208C>T (n.334+208C>T) | dbSNP |
| 5 | g.173234544T>A | CA807696994 | NKX2-5 | c.334+206A>T (n.334+206A>T) | dbSNP |
| 5 | g.173234544T>C | CA132260229 | NKX2-5 | c.334+206A>G (n.334+206A>G) | dbSNP |
| 5 | g.173234544T>G | CA1601616835 | NKX2-5 | c.334+206A>C (n.334+206A>C) | dbSNP |
| 5 | g.173234544T= | CA1601616834 | NKX2-5 | c.334+206A= (n.334+206A=) | |
| 5 | g.173234546C= | CA1601616836 | NKX2-5 | c.334+204G= (n.334+204G=) | |
| 5 | g.173234546C>G | CA1084496648 | NKX2-5 | c.334+204G>C (n.334+204G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.173234547T>C | CA1601616838 | NKX2-5 | c.334+203A>G (n.334+203A>G) | dbSNP |
| 5 | g.173234547T= | CA1601616837 | NKX2-5 | c.334+203A= (n.334+203A=) | |
| 5 | g.173234548T>G | CA564687765 | NKX2-5 | c.334+202A>C (n.334+202A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173234548T= | CA1601616839 | NKX2-5 | c.334+202A= (n.334+202A=) | |
| 5 | g.173234550C= | CA1601616840 | NKX2-5 | c.334+200G= (n.334+200G=) | |
| 5 | g.173234550C>G | CA1084496652 | NKX2-5 | c.334+200G>C (n.334+200G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.173234553T>C | CA807697000 | NKX2-5 | c.334+197A>G (n.334+197A>G) | dbSNP |
| 5 | g.173234553T= | CA1601616841 | NKX2-5 | c.334+197A= (n.334+197A=) | |
| 5 | g.173234553_173234554delinsTC | CA1601616842 | NKX2-5 | c.334+196_334+197delinsGA (n.334+196_334+197delinsGA) | |
| 5 | g.173234555del | CA807697002 | NKX2-5 | c.334+196del (n.334+196del) | dbSNP |
| 5 | g.173234555C= | CA1601616843 | NKX2-5 | c.334+195G= (n.334+195G=) | |
| 5 | g.173234555C>G | CA1084496655 | NKX2-5 | c.334+195G>C (n.334+195G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.173234555C>T | CA807697003 | NKX2-5 | c.334+195G>A (n.334+195G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.173234556G>A | CA1084496656 | NKX2-5 | c.334+194C>T (n.334+194C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.173234556G= | CA1601616844 | NKX2-5 | c.334+194C= (n.334+194C=) | |
| 5 | g.173234558C>A | CA1601616845 | NKX2-5 | c.334+192G>T (n.334+192G>T) | dbSNP |
| 5 | g.173234558C= | CA1601616846 | NKX2-5 | c.334+192G= (n.334+192G=) | |
| 5 | g.173234569A= | CA1601616847 | NKX2-5 | c.334+181T= (n.334+181T=) | |
| 5 | g.173234569A>T | CA807697005 | NKX2-5 | c.334+181T>A (n.334+181T>A) | dbSNP |
| 5 | g.173234570A= | CA1601616848 | NKX2-5 | c.334+180T= (n.334+180T=) | |
| 5 | g.173234570A>C | CA1601616849 | NKX2-5 | c.334+180T>G (n.334+180T>G) | dbSNP |
| 5 | g.173234571C>A | CA1601616851 | NKX2-5 | c.334+179G>T (n.334+179G>T) | dbSNP |
| 5 | g.173234571C= | CA1601616850 | NKX2-5 | c.334+179G= (n.334+179G=) | |
| 5 | g.173234572C= | CA1601616852 | NKX2-5 | c.334+178G= (n.334+178G=) | |
| 5 | g.173234572C>T | CA564687767 | NKX2-5 | c.334+178G>A (n.334+178G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173234573_173234574delinsTC | CA1601616853 | NKX2-5 | c.334+176_334+177delinsGA (n.334+176_334+177delinsGA) | |
| 5 | g.173234575del | CA1084496658 | NKX2-5 | c.334+176del (n.334+176del) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.173234575_173234582delinsCGATTGGA | CA1601616854 | NKX2-5 | c.334+168_334+175delinsTCCAATCG (n.334+168_334+175delinsTCCAATCG) | |
| 5 | g.173234576G>A | CA1601616856 | NKX2-5 | c.334+174C>T (n.334+174C>T) | dbSNP |
| 5 | g.173234576G= | CA1601616855 | NKX2-5 | c.334+174C= (n.334+174C=) | |
| 5 | g.173234576G>T | CA1601616857 | NKX2-5 | c.334+174C>A (n.334+174C>A) | dbSNP |
| 5 | g.173234576_173234582del | CA807697008 | NKX2-5 | c.334+168_334+174del (n.334+168_334+174del) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.173234577A= | CA1601616858 | NKX2-5 | c.334+173T= (n.334+173T=) | |
| 5 | g.173234577A>G | CA132260230 | NKX2-5 | c.334+173T>C (n.334+173T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.173234578T>C | CA1084496662 | NKX2-5 | c.334+172A>G (n.334+172A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.173234578T= | CA1601616859 | NKX2-5 | c.334+172A= (n.334+172A=) | |
| 5 | g.173234581G>C | CA132260231 | NKX2-5 | c.334+169C>G (n.334+169C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173234581G= | CA1601616860 | NKX2-5 | c.334+169C= (n.334+169C=) | |
| 5 | g.173234583C= | CA1601616861 | NKX2-5 | c.334+167G= (n.334+167G=) | |
| 5 | g.173234583C>T | CA132260233 | NKX2-5 | c.334+167G>A (n.334+167G>A) | dbSNP |
| 5 | g.173234586G>A | CA564687769 | NKX2-5 | c.334+164C>T (n.334+164C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173234586G= | CA1601616862 | NKX2-5 | c.334+164C= (n.334+164C=) | |
| 5 | g.173234587G>A | CA1601616864 | NKX2-5 | c.334+163C>T (n.334+163C>T) | dbSNP |
| 5 | g.173234587G= | CA1601616863 | NKX2-5 | c.334+163C= (n.334+163C=) | |
| 5 | g.173234588G>A | CA1601616866 | NKX2-5 | c.334+162C>T (n.334+162C>T) | dbSNP |
| 5 | g.173234588G= | CA1601616865 | NKX2-5 | c.334+162C= (n.334+162C=) | |
| 5 | g.173234589G>A | CA2740708249 | NKX2-5 | c.334+161C>T (n.334+161C>T) | |
| 5 | g.173234590C= | CA1601616867 | NKX2-5 | c.334+160G= (n.334+160G=) | |
| 5 | g.173234590C>T | CA132260234 | NKX2-5 | c.334+160G>A (n.334+160G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.173234591G>A | CA1601616869 | NKX2-5 | c.334+159C>T (n.334+159C>T) | dbSNP |
| 5 | g.173234591G= | CA1601616868 | NKX2-5 | c.334+159C= (n.334+159C=) | |
| 5 | g.173234591G>T | CA807697013 | NKX2-5 | c.334+159C>A (n.334+159C>A) | dbSNP |
| 5 | g.173234592C>A | CA1601616871 | NKX2-5 | c.334+158G>T (n.334+158G>T) | dbSNP |
| 5 | g.173234592C= | CA1601616870 | NKX2-5 | c.334+158G= (n.334+158G=) | |
| 5 | g.173234592C>T | CA1601616872 | NKX2-5 | c.334+158G>A (n.334+158G>A) | dbSNP |
| 5 | g.173234597G>A | CA564687770 | NKX2-5 | c.334+153C>T (n.334+153C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173234597G= | CA1601616873 | NKX2-5 | c.334+153C= (n.334+153C=) | |
| 5 | g.173234598C= | CA1601616874 | NKX2-5 | c.334+152G= (n.334+152G=) | |
| 5 | g.173234598C>T | CA1601616875 | NKX2-5 | c.334+152G>A (n.334+152G>A) | dbSNP gnomAD v4 |
| 5 | g.173234599C>A | CA2676542863 | NKX2-5 | c.334+151G>T (n.334+151G>T) | gnomAD v4 |
| 5 | g.173234600T>C | CA2676542864 | NKX2-5 | c.334+150A>G (n.334+150A>G) | gnomAD v4 |
| 5 | g.173234601G>A | CA132260237 | NKX2-5 | c.334+149C>T (n.334+149C>T) | dbSNP gnomAD v4 |
| 5 | g.173234601G= | CA1601616876 | NKX2-5 | c.334+149C= (n.334+149C=) | |
| 5 | g.173234602G>A | CA807697017 | NKX2-5 | c.334+148C>T (n.334+148C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.173234602G= | CA1601616877 | NKX2-5 | c.334+148C= (n.334+148C=) | |
| 5 | g.173234602G>T | CA2676542865 | NKX2-5 | c.334+148C>A (n.334+148C>A) | gnomAD v4 |
| 5 | g.173234603C>A | CA2676542866 | NKX2-5 | c.334+147G>T (n.334+147G>T) | gnomAD v4 |
| 5 | g.173234603C= | CA1601616878 | NKX2-5 | c.334+147G= (n.334+147G=) | |
| 5 | g.173234603C>G | CA1601616879 | NKX2-5 | c.334+147G>C (n.334+147G>C) | dbSNP gnomAD v4 |
| 5 | g.173234603C>T | CA564687771 | NKX2-5 | c.334+147G>A (n.334+147G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173234604G>A | CA2676542868 | NKX2-5 | c.334+146C>T (n.334+146C>T) | gnomAD v4 |
| 5 | g.173234604G>C | CA1601616882 | NKX2-5 | c.334+146C>G (n.334+146C>G) | dbSNP gnomAD v4 |
| 5 | g.173234604G= | CA1601616881 | NKX2-5 | c.334+146C= (n.334+146C=) | |
| 5 | g.173234604G>T | CA2676542867 | NKX2-5 | c.334+146C>A (n.334+146C>A) | gnomAD v4 |
| 5 | g.173234604_173234607delinsGACA | CA1601616880 | NKX2-5 | c.334+143_334+146delinsTGTC (n.334+143_334+146delinsTGTC) | |
| 5 | g.173234605A>G | CA2676542869 | NKX2-5 | c.334+145T>C (n.334+145T>C) | gnomAD v4 |
| 5 | g.173234605A>T | CA2676542870 | NKX2-5 | c.334+145T>A (n.334+145T>A) | gnomAD v4 |
| 5 | g.173234608_173234610del | CA807697021 | NKX2-5 | c.334+143_334+145del (n.334+143_334+145del) | dbSNP gnomAD v4 |
| 5 | g.173234606C>A | CA2676542871 | NKX2-5 | c.334+144G>T (n.334+144G>T) | gnomAD v4 |
| 5 | g.173234606C>T | CA2676542872 | NKX2-5 | c.334+144G>A (n.334+144G>A) | gnomAD v4 |
| 5 | g.173234608A= | CA1601616883 | NKX2-5 | c.334+142T= (n.334+142T=) | |
| 5 | g.173234608A>C | CA132260239 | NKX2-5 | c.334+142T>G (n.334+142T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173234608A>G | CA2676542873 | NKX2-5 | c.334+142T>C (n.334+142T>C) | gnomAD v4 |
| 5 | g.173234609C>A | CA2676542874 | NKX2-5 | c.334+141G>T (n.334+141G>T) | gnomAD v4 |
| 5 | g.173234609C= | CA1601616884 | NKX2-5 | c.334+141G= (n.334+141G=) | |
| 5 | g.173234609C>T | CA132260241 | NKX2-5 | c.334+141G>A (n.334+141G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173234610A>C | CA2676542875 | NKX2-5 | c.334+140T>G (n.334+140T>G) | gnomAD v4 |
| 5 | g.173234610A>T | CA2676542876 | NKX2-5 | c.334+140T>A (n.334+140T>A) | gnomAD v4 |
| 5 | g.173234611C>A | CA564904266 | NKX2-5 | c.334+139G>T (n.334+139G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.173234611C= | CA1601616885 | NKX2-5 | c.334+139G= (n.334+139G=) | |
| 5 | g.173234611C>T | CA132260251 | NKX2-5 | c.334+139G>A (n.334+139G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173234612C>A | CA2676542878 | NKX2-5 | c.334+138G>T (n.334+138G>T) | gnomAD v4 |
| 5 | g.173234612C>T | CA2676542877 | NKX2-5 | c.334+138G>A (n.334+138G>A) | gnomAD v4 |
| 5 | g.173234613A>G | CA2676542879 | NKX2-5 | c.334+137T>C (n.334+137T>C) | gnomAD v4 |
| 5 | g.173234613A>T | CA2676542880 | NKX2-5 | c.334+137T>A (n.334+137T>A) | gnomAD v4 |
| 5 | g.173234614G>A | CA564904267 | NKX2-5 | c.334+136C>T (n.334+136C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173234614G= | CA1601616886 | NKX2-5 | c.334+136C= (n.334+136C=) | |
| 5 | g.173234614G>T | CA2676542881 | NKX2-5 | c.334+136C>A (n.334+136C>A) | gnomAD v4 |
| 5 | g.173234615G>A | CA2676542882 | NKX2-5 | c.334+135C>T (n.334+135C>T) | gnomAD v4 |
| 5 | g.173234615G>T | CA2676542883 | NKX2-5 | c.334+135C>A (n.334+135C>A) | gnomAD v4 |
| 5 | g.173234616C>A | CA2676542884 | NKX2-5 | c.334+134G>T (n.334+134G>T) | gnomAD v4 |
| 5 | g.173234616C>T | CA2676542885 | NKX2-5 | c.334+134G>A (n.334+134G>A) | gnomAD v4 |
| 5 | g.173234617A>G | CA2676542886 | NKX2-5 | c.334+133T>C (n.334+133T>C) | gnomAD v4 |
| 5 | g.173234619C>A | CA2676542887 | NKX2-5 | c.334+131G>T (n.334+131G>T) | gnomAD v4 |
| 5 | g.173234619C= | CA1601616887 | NKX2-5 | c.334+131G= (n.334+131G=) | |
| 5 | g.173234619C>G | CA1601616888 | NKX2-5 | c.334+131G>C (n.334+131G>C) | dbSNP |
| 5 | g.173234620T>A | CA807697030 | NKX2-5 | c.334+130A>T (n.334+130A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.173234620T>C | CA2676542888 | NKX2-5 | c.334+130A>G (n.334+130A>G) | gnomAD v4 |
| 5 | g.173234620T>G | CA2676542889 | NKX2-5 | c.334+130A>C (n.334+130A>C) | gnomAD v4 |
| 5 | g.173234620T= | CA1601616889 | NKX2-5 | c.334+130A= (n.334+130A=) | |
| 5 | g.173234621T>C | CA2676542890 | NKX2-5 | c.334+129A>G (n.334+129A>G) | gnomAD v4 |
| 5 | g.173234622A>G | CA2676542891 | NKX2-5 | c.334+128T>C (n.334+128T>C) | gnomAD v4 |
| 5 | g.173234622A>T | CA2676542892 | NKX2-5 | c.334+128T>A (n.334+128T>A) | gnomAD v4 |
| 5 | g.173234623C>A | CA807697035 | NKX2-5 | c.334+127G>T (n.334+127G>T) | dbSNP |
| 5 | g.173234623C= | CA1601616890 | NKX2-5 | c.334+127G= (n.334+127G=) | |
| 5 | g.173234623C>T | CA1601616891 | NKX2-5 | c.334+127G>A (n.334+127G>A) | dbSNP |
| 5 | g.173234624A= | CA1601616892 | NKX2-5 | c.334+126T= (n.334+126T=) | |
| 5 | g.173234625T>G | CA2676542893 | NKX2-5 | c.334+125A>C (n.334+125A>C) | gnomAD v4 |
| 5 | g.173234626_173234628dup | CA807697037 | NKX2-5 | c.334+123_334+125dup (n.334+123_334+125dup) | dbSNP |
| 5 | g.173234625_173234651delinsTTCTGAACCCCCCGCCGCAGCCCAGCC | CA1601616893 | NKX2-5 | c.334+99_334+125delinsGGCTGGGCTGCGGCGGGGGGTTCAGAA (n.334+99_334+125delinsGGCTGGGCTGCGGCGGGGGGTTCAGAA) | |
| 5 | g.173234626T>G | CA1601616895 | NKX2-5 | c.334+124A>C (n.334+124A>C) | dbSNP |
| 5 | g.173234626T= | CA1601616894 | NKX2-5 | c.334+124A= (n.334+124A=) | |
| 5 | g.173234626_173234651del | CA807697039 | NKX2-5 | c.334+99_334+124del (n.334+99_334+124del) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.173234627C>A | CA2676542895 | NKX2-5 | c.334+123G>T (n.334+123G>T) | gnomAD v4 |
| 5 | g.173234627C>G | CA2676542894 | NKX2-5 | c.334+123G>C (n.334+123G>C) | gnomAD v4 |
| 5 | g.173234628T>C | CA2676542896 | NKX2-5 | c.334+122A>G (n.334+122A>G) | gnomAD v4 |
| 5 | g.173234629G= | CA1601616896 | NKX2-5 | c.334+121C= (n.334+121C=) | |
| 5 | g.173234629G>T | CA1601616897 | NKX2-5 | c.334+121C>A (n.334+121C>A) | dbSNP gnomAD v4 |
| 5 | g.173234631A= | CA1601616898 | NKX2-5 | c.334+119T= (n.334+119T=) | |
| 5 | g.173234631A>C | CA132260254 | NKX2-5 | c.334+119T>G (n.334+119T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173234631A>G | CA2676542897 | NKX2-5 | c.334+119T>C (n.334+119T>C) | gnomAD v4 |
| 5 | g.173234631A>T | CA2676542898 | NKX2-5 | c.334+119T>A (n.334+119T>A) | gnomAD v4 |
| 5 | g.173234631_173234632delinsAC | CA1601616899 | NKX2-5 | c.334+118_334+119delinsGT (n.334+118_334+119delinsGT) | |
| 5 | g.173234632C>A | CA2676542900 | NKX2-5 | c.334+118G>T (n.334+118G>T) | gnomAD v4 |
| 5 | g.173234632C= | CA1601616900 | NKX2-5 | c.334+118G= (n.334+118G=) | |
| 5 | g.173234632C>T | CA807697042 | NKX2-5 | c.334+118G>A (n.334+118G>A) | dbSNP gnomAD v4 |
| 5 | g.173234637dup | CA807697044 | NKX2-5 | c.334+118dup (n.334+118dup) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.173234637del | CA807697051 | NKX2-5 | c.334+118del (n.334+118del) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.173234635_173234647del | CA2676542899 | NKX2-5 | c.334+106_334+118del (n.334+106_334+118del) | gnomAD v4 |
| 5 | g.173234633C>A | CA2676542901 | NKX2-5 | c.334+117G>T (n.334+117G>T) | dbSNP gnomAD v4 |
| 5 | g.173234633C>G | CA2676542903 | NKX2-5 | c.334+117G>C (n.334+117G>C) | gnomAD v4 |
| 5 | g.173234633C>T | CA2676542902 | NKX2-5 | c.334+117G>A (n.334+117G>A) | gnomAD v4 |
| 5 | g.173234634C>A | CA2676542904 | NKX2-5 | c.334+116G>T (n.334+116G>T) | gnomAD v4 |
| 5 | g.173234634C= | CA1601616901 | NKX2-5 | c.334+116G= (n.334+116G=) | |
| 5 | g.173234634C>G | CA132260255 | NKX2-5 | c.334+116G>C (n.334+116G>C) | dbSNP gnomAD v4 |
| 5 | g.173234634C>T | CA2676542905 | NKX2-5 | c.334+116G>A (n.334+116G>A) | gnomAD v4 |
| 5 | g.173234635C= | CA1601616902 | NKX2-5 | c.334+115G= (n.334+115G=) | |
| 5 | g.173234635C>T | CA1084496673 | NKX2-5 | c.334+115G>A (n.334+115G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.173234636C>A | CA2676542906 | NKX2-5 | c.334+114G>T (n.334+114G>T) | gnomAD v4 |
| 5 | g.173234636C>G | CA2676542908 | NKX2-5 | c.334+114G>C (n.334+114G>C) | gnomAD v4 |
| 5 | g.173234636C>T | CA2676542907 | NKX2-5 | c.334+114G>A (n.334+114G>A) | gnomAD v4 |