Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.18785927_18785945delinsTGGCCCCGCCCCCACCGCACA2326525465COMPc.1489+20_1489+38delinsTGCGGTGGGGGCGGGGCCA (n.1489+20_1489+38delinsTGCGGTGGGGGCGGGGCCA)
c.1330+20_1330+38delinsTGCGGTGGGGGCGGGGCCA (n.1330+20_1330+38delinsTGCGGTGGGGGCGGGGCCA)
c.1390+20_1390+38delinsTGCGGTGGGGGCGGGGCCA (n.1390+20_1390+38delinsTGCGGTGGGGGCGGGGCCA)
19g.18785929_18785943dupCA994241263COMPc.1489+23_1489+37dup (n.1489+23_1489+37dup)
c.1330+23_1330+37dup (n.1330+23_1330+37dup)
c.1390+23_1390+37dup (n.1390+23_1390+37dup)
 gnomAD v3 gnomAD v4
19g.18785940_18785957dupCA632626626COMPc.1489+20_1489+37dup (n.1489+20_1489+37dup)
c.1330+20_1330+37dup (n.1330+20_1330+37dup)
c.1390+20_1390+37dup (n.1390+20_1390+37dup)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18785940_18785957delCA9316395COMPc.1489+20_1489+37del (n.1489+20_1489+37del)
c.1330+20_1330+37del (n.1330+20_1330+37del)
c.1390+20_1390+37del (n.1390+20_1390+37del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18785933dupCA2583621925COMPc.1489+35dup (n.1489+35dup)
c.1330+35dup (n.1330+35dup)
c.1390+35dup (n.1390+35dup)
 gnomAD v4
19g.18785931_18785933dupCA2583621926COMPc.1489+33_1489+35dup (n.1489+33_1489+35dup)
c.1330+33_1330+35dup (n.1330+33_1330+35dup)
c.1390+33_1390+35dup (n.1390+33_1390+35dup)
 gnomAD v4
19g.18785930_18785933dupCA2583621927COMPc.1489+32_1489+35dup (n.1489+32_1489+35dup)
c.1330+32_1330+35dup (n.1330+32_1330+35dup)
c.1390+32_1390+35dup (n.1390+32_1390+35dup)
 gnomAD v4
19g.18785933delCA2813847212COMPc.1489+35del (n.1489+35del)
c.1330+35del (n.1330+35del)
c.1390+35del (n.1390+35del)
19g.18785931C>ACA2583621929COMPc.1489+34G>T (n.1489+34G>T)
c.1330+34G>T (n.1330+34G>T)
c.1390+34G>T (n.1390+34G>T)
 gnomAD v4
19g.18785931C=CA2326525467COMPc.1489+34G= (n.1489+34G=)
c.1330+34G= (n.1330+34G=)
c.1390+34G= (n.1390+34G=)
19g.18785931C>TCA783972663COMPc.1489+34G>A (n.1489+34G>A)
c.1330+34G>A (n.1330+34G>A)
c.1390+34G>A (n.1390+34G>A)
 dbSNP gnomAD v3 gnomAD v4
19g.18785933C>ACA2583621930COMPc.1489+32G>T (n.1489+32G>T)
c.1330+32G>T (n.1330+32G>T)
c.1390+32G>T (n.1390+32G>T)
 gnomAD v4
19g.18785933C>TCA2583621931COMPc.1489+32G>A (n.1489+32G>A)
c.1330+32G>A (n.1330+32G>A)
c.1390+32G>A (n.1390+32G>A)
 gnomAD v4
19g.18785934G>ACA2583621933COMPc.1489+31C>T (n.1489+31C>T)
c.1330+31C>T (n.1330+31C>T)
c.1390+31C>T (n.1390+31C>T)
 gnomAD v4
19g.18785934G>CCA306254954COMPc.1489+31C>G (n.1489+31C>G)
c.1330+31C>G (n.1330+31C>G)
c.1390+31C>G (n.1390+31C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18785934G=CA2326525469COMPc.1489+31C= (n.1489+31C=)
c.1330+31C= (n.1330+31C=)
c.1390+31C= (n.1390+31C=)
19g.18785934G>TCA2583621934COMPc.1489+31C>A (n.1489+31C>A)
c.1330+31C>A (n.1330+31C>A)
c.1390+31C>A (n.1390+31C>A)
 gnomAD v4
19g.18785934_18785935delinsGCCA2326525468COMPc.1489+30_1489+31delinsGC (n.1489+30_1489+31delinsGC)
c.1330+30_1330+31delinsGC (n.1330+30_1330+31delinsGC)
c.1390+30_1390+31delinsGC (n.1390+30_1390+31delinsGC)
19g.18785934_18785935insGCCCA2583621935COMPc.1489+30_1489+31insGGC (n.1489+30_1489+31insGGC)
c.1330+30_1330+31insGGC (n.1330+30_1330+31insGGC)
c.1390+30_1390+31insGGC (n.1390+30_1390+31insGGC)
 gnomAD v4
19g.18785935C=CA2326525470COMPc.1489+30G= (n.1489+30G=)
c.1330+30G= (n.1330+30G=)
c.1390+30G= (n.1390+30G=)
19g.18785935C>TCA632626628COMPc.1489+30G>A (n.1489+30G>A)
c.1330+30G>A (n.1330+30G>A)
c.1390+30G>A (n.1390+30G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18785939delCA9316397COMPc.1489+30del (n.1489+30del)
c.1330+30del (n.1330+30del)
c.1390+30del (n.1390+30del)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18785936C=CA2326525471COMPc.1489+29G= (n.1489+29G=)
c.1330+29G= (n.1330+29G=)
c.1390+29G= (n.1390+29G=)
19g.18785936C>TCA306254958COMPc.1489+29G>A (n.1489+29G>A)
c.1330+29G>A (n.1330+29G>A)
c.1390+29G>A (n.1390+29G>A)
 dbSNP gnomAD v3 gnomAD v4
19g.18785937C>ACA2583621936COMPc.1489+28G>T (n.1489+28G>T)
c.1330+28G>T (n.1330+28G>T)
c.1390+28G>T (n.1390+28G>T)
 gnomAD v4
19g.18785937C>GCA2583621937COMPc.1489+28G>C (n.1489+28G>C)
c.1330+28G>C (n.1330+28G>C)
c.1390+28G>C (n.1390+28G>C)
 gnomAD v4
19g.18785937C>TCA2695228426COMPc.1489+28G>A (n.1489+28G>A)
c.1330+28G>A (n.1330+28G>A)
c.1390+28G>A (n.1390+28G>A)
19g.18785938C>ACA2583621938COMPc.1489+27G>T (n.1489+27G>T)
c.1330+27G>T (n.1330+27G>T)
c.1390+27G>T (n.1390+27G>T)
 gnomAD v4
19g.18785938C=CA2326525472COMPc.1489+27G= (n.1489+27G=)
c.1330+27G= (n.1330+27G=)
c.1390+27G= (n.1390+27G=)
19g.18785938C>TCA632626630COMPc.1489+27G>A (n.1489+27G>A)
c.1330+27G>A (n.1330+27G>A)
c.1390+27G>A (n.1390+27G>A)
 dbSNP gnomAD v2 gnomAD v4
19g.18785940A=CA2326525473COMPc.1489+25T= (n.1489+25T=)
c.1330+25T= (n.1330+25T=)
c.1390+25T= (n.1390+25T=)
19g.18785940A>CCA306254961COMPc.1489+25T>G (n.1489+25T>G)
c.1330+25T>G (n.1330+25T>G)
c.1390+25T>G (n.1390+25T>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18785940A>GCA9316398COMPc.1489+25T>C (n.1489+25T>C)
c.1330+25T>C (n.1330+25T>C)
c.1390+25T>C (n.1390+25T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18785941C=CA2326525474COMPc.1489+24G= (n.1489+24G=)
c.1330+24G= (n.1330+24G=)
c.1390+24G= (n.1390+24G=)
19g.18785941C>TCA9316399COMPc.1489+24G>A (n.1489+24G>A)
c.1330+24G>A (n.1330+24G>A)
c.1390+24G>A (n.1390+24G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18785942C>ACA632626632COMPc.1489+23G>T (n.1489+23G>T)
c.1330+23G>T (n.1330+23G>T)
c.1390+23G>T (n.1390+23G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18785942C=CA2326525475COMPc.1489+23G= (n.1489+23G=)
c.1330+23G= (n.1330+23G=)
c.1390+23G= (n.1390+23G=)
19g.18785942C>TCA306254991COMPc.1489+23G>A (n.1489+23G>A)
c.1330+23G>A (n.1330+23G>A)
c.1390+23G>A (n.1390+23G>A)
 dbSNP gnomAD v2 gnomAD v4
19g.18785942_18785947delinsCGCAGGCA2326525476COMPc.1489+18_1489+23delinsCCTGCG (n.1489+18_1489+23delinsCCTGCG)
c.1330+18_1330+23delinsCCTGCG (n.1330+18_1330+23delinsCCTGCG)
c.1390+18_1390+23delinsCCTGCG (n.1390+18_1390+23delinsCCTGCG)
19g.18785943G>ACA783972671COMPc.1489+22C>T (n.1489+22C>T)
c.1330+22C>T (n.1330+22C>T)
c.1390+22C>T (n.1390+22C>T)
 dbSNP gnomAD v4
19g.18785943G>CCA632626633COMPc.1489+22C>G (n.1489+22C>G)
c.1330+22C>G (n.1330+22C>G)
c.1390+22C>G (n.1390+22C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18785943G=CA2326525477COMPc.1489+22C= (n.1489+22C=)
c.1330+22C= (n.1330+22C=)
c.1390+22C= (n.1390+22C=)
19g.18785943G>TCA2583621941COMPc.1489+22C>A (n.1489+22C>A)
c.1330+22C>A (n.1330+22C>A)
c.1390+22C>A (n.1390+22C>A)
 gnomAD v4
19g.18785943_18785947delCA994241279COMPc.1489+18_1489+22del (n.1489+18_1489+22del)
c.1330+18_1330+22del (n.1330+18_1330+22del)
c.1390+18_1390+22del (n.1390+18_1390+22del)
 dbSNP gnomAD v3 gnomAD v4
19g.18785944C=CA2326525478COMPc.1489+21G= (n.1489+21G=)
c.1330+21G= (n.1330+21G=)
c.1390+21G= (n.1390+21G=)
19g.18785944C>TCA2326525479COMPc.1489+21G>A (n.1489+21G>A)
c.1330+21G>A (n.1330+21G>A)
c.1390+21G>A (n.1390+21G>A)
 dbSNP gnomAD v4
19g.18785945A=CA2326525480COMPc.1489+20T= (n.1489+20T=)
c.1330+20T= (n.1330+20T=)
c.1390+20T= (n.1390+20T=)
19g.18785945A>CCA632626635COMPc.1489+20T>G (n.1489+20T>G)
c.1330+20T>G (n.1330+20T>G)
c.1390+20T>G (n.1390+20T>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18785945A>GCA2583621943COMPc.1489+20T>C (n.1489+20T>C)
c.1330+20T>C (n.1330+20T>C)
c.1390+20T>C (n.1390+20T>C)
 gnomAD v4
19g.18785945_18785947delCA2583621942COMPc.1489+18_1489+20del (n.1489+18_1489+20del)
c.1330+18_1330+20del (n.1330+18_1330+20del)
c.1390+18_1390+20del (n.1390+18_1390+20del)
 gnomAD v4
19g.18785945_18785946insCCA2583621944COMPc.1489+19_1489+20insG (n.1489+19_1489+20insG)
c.1330+19_1330+20insG (n.1330+19_1330+20insG)
c.1390+19_1390+20insG (n.1390+19_1390+20insG)
 gnomAD v4
19g.18785946G>ACA2583621945COMPc.1489+19C>T (n.1489+19C>T)
c.1330+19C>T (n.1330+19C>T)
c.1390+19C>T (n.1390+19C>T)
 gnomAD v4
19g.18785946G>CCA632626637COMPc.1489+19C>G (n.1489+19C>G)
c.1330+19C>G (n.1330+19C>G)
c.1390+19C>G (n.1390+19C>G)
 dbSNP gnomAD v2 gnomAD v4
19g.18785946G=CA2326525481COMPc.1489+19C= (n.1489+19C=)
c.1330+19C= (n.1330+19C=)
c.1390+19C= (n.1390+19C=)
19g.18785947G>ACA2326525483COMPc.1489+18C>T (n.1489+18C>T)
c.1330+18C>T (n.1330+18C>T)
c.1390+18C>T (n.1390+18C>T)
 dbSNP
19g.18785947G>CCA306255005COMPc.1489+18C>G (n.1489+18C>G)
c.1330+18C>G (n.1330+18C>G)
c.1390+18C>G (n.1390+18C>G)
 dbSNP
19g.18785947G=CA2326525482COMPc.1489+18C= (n.1489+18C=)
c.1330+18C= (n.1330+18C=)
c.1390+18C= (n.1390+18C=)
19g.18785947G>TCA2583621946COMPc.1489+18C>A (n.1489+18C>A)
c.1330+18C>A (n.1330+18C>A)
c.1390+18C>A (n.1390+18C>A)
 gnomAD v4
19g.18785948C>ACA2583621948COMPc.1489+17G>T (n.1489+17G>T)
c.1330+17G>T (n.1330+17G>T)
c.1390+17G>T (n.1390+17G>T)
 gnomAD v4
19g.18785951dupCA2583621947COMPc.1489+17dup (n.1489+17dup)
c.1330+17dup (n.1330+17dup)
c.1390+17dup (n.1390+17dup)
 gnomAD v4
19g.18785949C>TCA994241284COMPc.1489+16G>A (n.1489+16G>A)
c.1330+16G>A (n.1330+16G>A)
c.1390+16G>A (n.1390+16G>A)
 gnomAD v3 gnomAD v4
19g.18785950C>GCA994241286COMPc.1489+15G>C (n.1489+15G>C)
c.1330+15G>C (n.1330+15G>C)
c.1390+15G>C (n.1390+15G>C)
 gnomAD v3 gnomAD v4
19g.18785951C>ACA2583621949COMPc.1489+14G>T (n.1489+14G>T)
c.1330+14G>T (n.1330+14G>T)
c.1390+14G>T (n.1390+14G>T)
 gnomAD v4
19g.18785951C>GCA2583621950COMPc.1489+14G>C (n.1489+14G>C)
c.1330+14G>C (n.1330+14G>C)
c.1390+14G>C (n.1390+14G>C)
 gnomAD v4
19g.18785951C>TCA2583621951COMPc.1489+14G>A (n.1489+14G>A)
c.1330+14G>A (n.1330+14G>A)
c.1390+14G>A (n.1390+14G>A)
 gnomAD v4
19g.18785952delCA2576725774COMPc.1489+13del (n.1489+13del)
c.1330+13del (n.1330+13del)
c.1390+13del (n.1390+13del)
19g.18785952G>ACA2576725775COMPc.1489+13C>T (n.1489+13C>T)
c.1330+13C>T (n.1330+13C>T)
c.1390+13C>T (n.1390+13C>T)
 gnomAD v4
19g.18785952G>CCA306255014COMPc.1489+13C>G (n.1489+13C>G)
c.1330+13C>G (n.1330+13C>G)
c.1390+13C>G (n.1390+13C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18785952G=CA2326525484COMPc.1489+13C= (n.1489+13C=)
c.1330+13C= (n.1330+13C=)
c.1390+13C= (n.1390+13C=)
19g.18785952G>TCA9316400COMPc.1489+13C>A (n.1489+13C>A)
c.1330+13C>A (n.1330+13C>A)
c.1390+13C>A (n.1390+13C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18785953C>ACA9316401COMPc.1489+12G>T (n.1489+12G>T)
c.1330+12G>T (n.1330+12G>T)
c.1390+12G>T (n.1390+12G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18785953C=CA2326525485COMPc.1489+12G= (n.1489+12G=)
c.1330+12G= (n.1330+12G=)
c.1390+12G= (n.1390+12G=)
19g.18785953C>TCA2583621953COMPc.1489+12G>A (n.1489+12G>A)
c.1330+12G>A (n.1330+12G>A)
c.1390+12G>A (n.1390+12G>A)
 gnomAD v4
19g.18785957delCA2576725776COMPc.1489+12del (n.1489+12del)
c.1330+12del (n.1330+12del)
c.1390+12del (n.1390+12del)
 gnomAD v4
19g.18785954C>ACA2583621954COMPc.1489+11G>T (n.1489+11G>T)
c.1330+11G>T (n.1330+11G>T)
c.1390+11G>T (n.1390+11G>T)
 gnomAD v4
19g.18785954C=CA2326525486COMPc.1489+11G= (n.1489+11G=)
c.1330+11G= (n.1330+11G=)
c.1390+11G= (n.1390+11G=)
19g.18785954C>GCA2813847217COMPc.1489+11G>C (n.1489+11G>C)
c.1330+11G>C (n.1330+11G>C)
c.1390+11G>C (n.1390+11G>C)
19g.18785954C>TCA632626638COMPc.1489+11G>A (n.1489+11G>A)
c.1330+11G>A (n.1330+11G>A)
c.1390+11G>A (n.1390+11G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18785955C>ACA2576725777COMPc.1489+10G>T (n.1489+10G>T)
c.1330+10G>T (n.1330+10G>T)
c.1390+10G>T (n.1390+10G>T)
19g.18785955C>TCA2583621955COMPc.1489+10G>A (n.1489+10G>A)
c.1330+10G>A (n.1330+10G>A)
c.1390+10G>A (n.1390+10G>A)
 gnomAD v4
19g.18785956C>ACA2583621957COMPc.1489+9G>T (n.1489+9G>T)
c.1330+9G>T (n.1330+9G>T)
c.1390+9G>T (n.1390+9G>T)
 gnomAD v4
19g.18785956C=CA2326525487COMPc.1489+9G= (n.1489+9G=)
c.1330+9G= (n.1330+9G=)
c.1390+9G= (n.1390+9G=)
19g.18785956C>TCA2326525488COMPc.1489+9G>A (n.1489+9G>A)
c.1330+9G>A (n.1330+9G>A)
c.1390+9G>A (n.1390+9G>A)
 dbSNP gnomAD v4
19g.18785957C>ACA2583621958COMPc.1489+8G>T (n.1489+8G>T)
c.1330+8G>T (n.1330+8G>T)
c.1390+8G>T (n.1390+8G>T)
 gnomAD v4
19g.18785957C=CA2326525489COMPc.1489+8G= (n.1489+8G=)
c.1330+8G= (n.1330+8G=)
c.1390+8G= (n.1390+8G=)
19g.18785957C>TCA9316402COMPc.1489+8G>A (n.1489+8G>A)
c.1330+8G>A (n.1330+8G>A)
c.1390+8G>A (n.1390+8G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18785958G>ACA632626639COMPc.1489+7C>T (n.1489+7C>T)
c.1330+7C>T (n.1330+7C>T)
c.1390+7C>T (n.1390+7C>T)
 dbSNP gnomAD v2 gnomAD v4
19g.18785958G>CCA2326525491COMPc.1489+7C>G (n.1489+7C>G)
c.1330+7C>G (n.1330+7C>G)
c.1390+7C>G (n.1390+7C>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.18785958G=CA2326525490COMPc.1489+7C= (n.1489+7C=)
c.1330+7C= (n.1330+7C=)
c.1390+7C= (n.1390+7C=)
19g.18785958G>TCA2583621960COMPc.1489+7C>A (n.1489+7C>A)
c.1330+7C>A (n.1330+7C>A)
c.1390+7C>A (n.1390+7C>A)
 gnomAD v4
19g.18785959C>ACA306255041COMPc.1489+6G>T (n.1489+6G>T)
c.1330+6G>T (n.1330+6G>T)
c.1390+6G>T (n.1390+6G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18785959C=CA2326525492COMPc.1489+6G= (n.1489+6G=)
c.1330+6G= (n.1330+6G=)
c.1390+6G= (n.1390+6G=)
19g.18785959C>GCA9316403COMPc.1489+6G>C (n.1489+6G>C)
c.1330+6G>C (n.1330+6G>C)
c.1390+6G>C (n.1390+6G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18785959_18785970delinsCCGTACTGTCCGCA2326525493COMPc.1484_1489+6delinsCGGACAGTACGG
c.1325_1330+6delinsCGGACAGTACGG
c.1385_1390+6delinsCGGACAGTACGG
19g.18785960C>ACA2583621962COMPc.1489+5G>T (n.1489+5G>T)
c.1330+5G>T (n.1330+5G>T)
c.1390+5G>T (n.1390+5G>T)
 gnomAD v4
19g.18785960C=CA2326525494COMPc.1489+5G= (n.1489+5G=)
c.1330+5G= (n.1330+5G=)
c.1390+5G= (n.1390+5G=)
19g.18785960C>TCA306255043COMPc.1489+5G>A (n.1489+5G>A)
c.1330+5G>A (n.1330+5G>A)
c.1390+5G>A (n.1390+5G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18785963_18785973delCA632626640COMPc.1484_1489+5del
c.1325_1330+5del
c.1385_1390+5del
 dbSNP gnomAD v2 gnomAD v4
19g.18785961G>ACA632626641COMPc.1489+4C>T (n.1489+4C>T)
c.1330+4C>T (n.1330+4C>T)
c.1390+4C>T (n.1390+4C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18785961G>CCA2583621964COMPc.1489+4C>G (n.1489+4C>G)
c.1330+4C>G (n.1330+4C>G)
c.1390+4C>G (n.1390+4C>G)
 gnomAD v4
19g.18785961G=CA2326525495COMPc.1489+4C= (n.1489+4C=)
c.1330+4C= (n.1330+4C=)
c.1390+4C= (n.1390+4C=)
19g.18785961G>TCA2576725778COMPc.1489+4C>A (n.1489+4C>A)
c.1330+4C>A (n.1330+4C>A)
c.1390+4C>A (n.1390+4C>A)
 gnomAD v4
19g.18785962T>GCA2583621965COMPc.1489+3A>C (n.1489+3A>C)
c.1330+3A>C (n.1330+3A>C)
c.1390+3A>C (n.1390+3A>C)
 gnomAD v4
19g.18785963A=CA2326525496COMPc.1489+2T= (n.1489+2T=)
c.1330+2T= (n.1330+2T=)
c.1390+2T= (n.1390+2T=)
19g.18785963A>CCA404884023COMPc.1489+2T>G (n.1489+2T>G)
c.1330+2T>G (n.1330+2T>G)
c.1390+2T>G (n.1390+2T>G)
19g.18785963A>GCA404884025COMPc.1489+2T>C (n.1489+2T>C)
c.1330+2T>C (n.1330+2T>C)
c.1390+2T>C (n.1390+2T>C)
19g.18785963A>TCA404884029COMPc.1489+2T>A (n.1489+2T>A)
c.1330+2T>A (n.1330+2T>A)
c.1390+2T>A (n.1390+2T>A)
 ClinVar dbSNP
19g.18785964C>ACA306255048COMPc.1489+1G>T (n.1489+1G>T)
c.1330+1G>T (n.1330+1G>T)
c.1390+1G>T (n.1390+1G>T)
 dbSNP gnomAD v4
19g.18785964C=CA2326525497COMPc.1489+1G= (n.1489+1G=)
c.1330+1G= (n.1330+1G=)
c.1390+1G= (n.1390+1G=)
19g.18785964C>GCA9316404COMPc.1489+1G>C (n.1489+1G>C)
c.1330+1G>C (n.1330+1G>C)
c.1390+1G>C (n.1390+1G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18785964C>TCA404884037COMPc.1489+1G>A (n.1489+1G>A)
c.1330+1G>A (n.1330+1G>A)
c.1390+1G>A (n.1390+1G>A)
19g.18785965T>ACA404884043COMPc.1489A>T (p.Arg497Trp)
c.1330A>T (p.Arg444Trp)
c.1390A>T (p.Arg464Trp)
 gnomAD v4
19g.18785965T>CCA404884046COMPc.1489A>G (p.Arg497Gly)
c.1330A>G (p.Arg444Gly)
c.1390A>G (p.Arg464Gly)
19g.18785965T>GCA506117277COMPc.1489A>C (p.Arg497=)
c.1330A>C (p.Arg444=)
c.1390A>C (p.Arg464=)
19g.18785966G>ACA506117280COMPc.1488C>T (p.Asp496=)
c.1329C>T (p.Asp443=)
c.1389C>T (p.Asp463=)
19g.18785966G>CCA404884050COMPc.1488C>G (p.Asp496Glu)
c.1329C>G (p.Asp443Glu)
c.1389C>G (p.Asp463Glu)
 gnomAD v4
19g.18785966G=CA2326525498COMPc.1488C= (p.Asp496=)
c.1329C= (p.Asp443=)
c.1389C= (p.Asp463=)
19g.18785966G>TCA9316405COMPc.1488C>A (p.Asp496Glu)
c.1329C>A (p.Asp443Glu)
c.1389C>A (p.Asp463Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18785967T>ACA404884058COMPc.1487A>T (p.Asp496Val)
c.1328A>T (p.Asp443Val)
c.1388A>T (p.Asp463Val)
19g.18785967T>CCA9316406COMPc.1487A>G (p.Asp496Gly)
c.1328A>G (p.Asp443Gly)
c.1388A>G (p.Asp463Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18785967T>GCA404884062COMPc.1487A>C (p.Asp496Ala)
c.1328A>C (p.Asp443Ala)
c.1388A>C (p.Asp463Ala)
19g.18785967T=CA2326525499COMPc.1487A= (p.Asp496=)
c.1328A= (p.Asp443=)
c.1388A= (p.Asp463=)
19g.18785968C>ACA9316407COMPc.1486G>T (p.Asp496Tyr)
c.1327G>T (p.Asp443Tyr)
c.1387G>T (p.Asp463Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18785968C=CA2326525500COMPc.1486G= (p.Asp496=)
c.1327G= (p.Asp443=)
c.1387G= (p.Asp463=)
19g.18785968C>GCA404884068COMPc.1486G>C (p.Asp496His)
c.1327G>C (p.Asp443His)
c.1387G>C (p.Asp463His)
19g.18785968C>TCA404884071COMPc.1486G>A (p.Asp496Asn)
c.1327G>A (p.Asp443Asn)
c.1387G>A (p.Asp463Asn)
19g.18785969C>ACA506117293COMPc.1485G>T (p.Ala495=)
c.1326G>T (p.Ala442=)
c.1386G>T (p.Ala462=)
19g.18785969C=CA2326525501COMPc.1485G= (p.Ala495=)
c.1326G= (p.Ala442=)
c.1386G= (p.Ala462=)
19g.18785969C>GCA506117288COMPc.1485G>C (p.Ala495=)
c.1326G>C (p.Ala442=)
c.1386G>C (p.Ala462=)
 gnomAD v4
19g.18785969C>TCA9316408COMPc.1485G>A (p.Ala495=)
c.1326G>A (p.Ala442=)
c.1386G>A (p.Ala462=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18785970G>ACA9316409COMPc.1484C>T (p.Ala495Val)
c.1325C>T (p.Ala442Val)
c.1385C>T (p.Ala462Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18785970G>CCA404884081COMPc.1484C>G (p.Ala495Gly)
c.1325C>G (p.Ala442Gly)
c.1385C>G (p.Ala462Gly)
19g.18785970G=CA2326525502COMPc.1484C= (p.Ala495=)
c.1325C= (p.Ala442=)
c.1385C= (p.Ala462=)
19g.18785970G>TCA9316410COMPc.1484C>A (p.Ala495Glu)
c.1325C>A (p.Ala442Glu)
c.1385C>A (p.Ala462Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18785971C>ACA404884092COMPc.1483G>T (p.Ala495Ser)
c.1324G>T (p.Ala442Ser)
c.1384G>T (p.Ala462Ser)
 gnomAD v4
19g.18785971C=CA2326525503COMPc.1483G= (p.Ala495=)
c.1324G= (p.Ala442=)
c.1384G= (p.Ala462=)
19g.18785971C>GCA404884085COMPc.1483G>C (p.Ala495Pro)
c.1324G>C (p.Ala442Pro)
c.1384G>C (p.Ala462Pro)
 gnomAD v4
19g.18785971C>TCA9316411COMPc.1483G>A (p.Ala495Thr)
c.1324G>A (p.Ala442Thr)
c.1384G>A (p.Ala462Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18785972G>ACA506117298COMPc.1482C>T (p.Asp494=)
c.1323C>T (p.Asp441=)
c.1383C>T (p.Asp461=)
19g.18785972G>CCA404884093COMPc.1482C>G (p.Asp494Glu)
c.1323C>G (p.Asp441Glu)
c.1383C>G (p.Asp461Glu)
19g.18785972G>TCA404884095COMPc.1482C>A (p.Asp494Glu)
c.1323C>A (p.Asp441Glu)
c.1383C>A (p.Asp461Glu)
19g.18785972_18785975delinsGTCCCA2326525504COMPc.1479_1482delinsGGAC (p.Glu493=)
c.1320_1323delinsGGAC (p.Glu440=)
c.1380_1383delinsGGAC (p.Glu460=)
19g.18785973T>ACA404884099COMPc.1481A>T (p.Asp494Val)
c.1322A>T (p.Asp441Val)
c.1382A>T (p.Asp461Val)
19g.18785973T>CCA404884101COMPc.1481A>G (p.Asp494Gly)
c.1322A>G (p.Asp441Gly)
c.1382A>G (p.Asp461Gly)
 ClinVar dbSNP
19g.18785973T>GCA404884104COMPc.1481A>C (p.Asp494Ala)
c.1322A>C (p.Asp441Ala)
c.1382A>C (p.Asp461Ala)
19g.18785977_18785979delCA9316412COMPc.1479_1481del (p.Glu493del)
c.1320_1322del (p.Glu440del)
c.1380_1382del (p.Glu460del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18785974C>ACA404884108COMPc.1480G>T (p.Asp494Tyr)
c.1321G>T (p.Asp441Tyr)
c.1381G>T (p.Asp461Tyr)
 gnomAD v4
19g.18785974C>GCA404884110COMPc.1480G>C (p.Asp494His)
c.1321G>C (p.Asp441His)
c.1381G>C (p.Asp461His)
19g.18785974C>TCA404884113COMPc.1480G>A (p.Asp494Asn)
c.1321G>A (p.Asp441Asn)
c.1381G>A (p.Asp461Asn)
19g.18785975C>ACA404884115COMPc.1479G>T (p.Glu493Asp)
c.1320G>T (p.Glu440Asp)
c.1380G>T (p.Glu460Asp)
19g.18785975C>GCA404884117COMPc.1479G>C (p.Glu493Asp)
c.1320G>C (p.Glu440Asp)
c.1380G>C (p.Glu460Asp)
19g.18785975C>TCA506117306COMPc.1479G>A (p.Glu493=)
c.1320G>A (p.Glu440=)
c.1380G>A (p.Glu460=)
 gnomAD v4
19g.18785976T>ACA404884127COMPc.1478A>T (p.Glu493Val)
c.1319A>T (p.Glu440Val)
c.1379A>T (p.Glu460Val)
19g.18785976T>CCA404884122COMPc.1478A>G (p.Glu493Gly)
c.1319A>G (p.Glu440Gly)
c.1379A>G (p.Glu460Gly)
 dbSNP
19g.18785976T>GCA404884124COMPc.1478A>C (p.Glu493Ala)
c.1319A>C (p.Glu440Ala)
c.1379A>C (p.Glu460Ala)
19g.18785976T=CA2326525505COMPc.1478A= (p.Glu493=)
c.1319A= (p.Glu440=)
c.1379A= (p.Glu460=)
19g.18785977C>ACA404884133COMPc.1477G>T (p.Glu493Ter)
c.1318G>T (p.Glu440Ter)
c.1378G>T (p.Glu460Ter)
19g.18785977C>GCA404884135COMPc.1477G>C (p.Glu493Gln)
c.1318G>C (p.Glu440Gln)
c.1378G>C (p.Glu460Gln)
19g.18785977C>TCA404884137COMPc.1477G>A (p.Glu493Lys)
c.1318G>A (p.Glu440Lys)
c.1378G>A (p.Glu460Lys)
19g.18785978C>ACA404884141COMPc.1476G>T (p.Gln492His)
c.1317G>T (p.Gln439His)
c.1377G>T (p.Gln459His)
19g.18785978C>GCA404884153COMPc.1476G>C (p.Gln492His)
c.1317G>C (p.Gln439His)
c.1377G>C (p.Gln459His)
19g.18785978C>TCA506117312COMPc.1476G>A (p.Gln492=)
c.1317G>A (p.Gln439=)
c.1377G>A (p.Gln459=)
19g.18785979T>ACA404884156COMPc.1475A>T (p.Gln492Leu)
c.1316A>T (p.Gln439Leu)
c.1376A>T (p.Gln459Leu)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
19g.18785979T>CCA404884158COMPc.1475A>G (p.Gln492Arg)
c.1316A>G (p.Gln439Arg)
c.1376A>G (p.Gln459Arg)
 gnomAD v4
19g.18785979T>GCA404884162COMPc.1475A>C (p.Gln492Pro)
c.1316A>C (p.Gln439Pro)
c.1376A>C (p.Gln459Pro)
 ClinVar dbSNP gnomAD v4
19g.18785979T=CA2326525506COMPc.1475A= (p.Gln492=)
c.1316A= (p.Gln439=)
c.1376A= (p.Gln459=)
19g.18785980G>ACA404884164COMPc.1474C>T (p.Gln492Ter)
c.1315C>T (p.Gln439Ter)
c.1375C>T (p.Gln459Ter)
 dbSNP
19g.18785980G>CCA404884167COMPc.1474C>G (p.Gln492Glu)
c.1315C>G (p.Gln439Glu)
c.1375C>G (p.Gln459Glu)
19g.18785980G=CA2326525507COMPc.1474C= (p.Gln492=)
c.1315C= (p.Gln439=)
c.1375C= (p.Gln459=)
19g.18785980G>TCA404884170COMPc.1474C>A (p.Gln492Lys)
c.1315C>A (p.Gln439Lys)
c.1375C>A (p.Gln459Lys)
19g.18785981G>ACA506117317COMPc.1473C>T (p.Gly491=)
c.1314C>T (p.Gly438=)
c.1374C>T (p.Gly458=)
19g.18785981G>CCA506117318COMPc.1473C>G (p.Gly491=)
c.1314C>G (p.Gly438=)
c.1374C>G (p.Gly458=)
19g.18785981G>TCA506117319COMPc.1473C>A (p.Gly491=)
c.1314C>A (p.Gly438=)
c.1374C>A (p.Gly458=)
19g.18785982C>ACA404884177COMPc.1472G>T (p.Gly491Val)
c.1313G>T (p.Gly438Val)
c.1373G>T (p.Gly458Val)
19g.18785982C>GCA404884174COMPc.1472G>C (p.Gly491Ala)
c.1313G>C (p.Gly438Ala)
c.1373G>C (p.Gly458Ala)
19g.18785982C>TCA404884173COMPc.1472G>A (p.Gly491Asp)
c.1313G>A (p.Gly438Asp)
c.1373G>A (p.Gly458Asp)
19g.18785983C>ACA404884187COMPc.1471G>T (p.Gly491Cys)
c.1312G>T (p.Gly438Cys)
c.1372G>T (p.Gly458Cys)
19g.18785983C=CA2326525508COMPc.1471G= (p.Gly491=)
c.1312G= (p.Gly438=)
c.1372G= (p.Gly458=)
19g.18785983C>GCA404884190COMPc.1471G>C (p.Gly491Arg)
c.1312G>C (p.Gly438Arg)
c.1372G>C (p.Gly458Arg)
19g.18785983C>TCA9316413COMPc.1471G>A (p.Gly491Ser)
c.1312G>A (p.Gly438Ser)
c.1372G>A (p.Gly458Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18785984G>ACA506117328COMPc.1470C>T (p.Pro490=)
c.1311C>T (p.Pro437=)
c.1371C>T (p.Pro457=)
 dbSNP gnomAD v2 gnomAD v4
19g.18785984G>CCA9316415COMPc.1470C>G (p.Pro490=)
c.1311C>G (p.Pro437=)
c.1371C>G (p.Pro457=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18785984G=CA2326525509COMPc.1470C= (p.Pro490=)
c.1311C= (p.Pro437=)
c.1371C= (p.Pro457=)
19g.18785984G>TCA9316414COMPc.1470C>A (p.Pro490=)
c.1311C>A (p.Pro437=)
c.1371C>A (p.Pro457=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18785987delCA2576725779COMPc.1470del (p.Gly491AlafsTer24)
c.1311del (p.Gly438AlafsTer24)
c.1371del (p.Gly458AlafsTer24)
 gnomAD v4
19g.18785985G>ACA9316416COMPc.1469C>T (p.Pro490Leu)
c.1310C>T (p.Pro437Leu)
c.1370C>T (p.Pro457Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18785985G>CCA306255118COMPc.1469C>G (p.Pro490Arg)
c.1310C>G (p.Pro437Arg)
c.1370C>G (p.Pro457Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18785985G=CA2326525510COMPc.1469C= (p.Pro490=)
c.1310C= (p.Pro437=)
c.1370C= (p.Pro457=)
19g.18785985G>TCA404884202COMPc.1469C>A (p.Pro490His)
c.1310C>A (p.Pro437His)
c.1370C>A (p.Pro457His)
 dbSNP gnomAD v2 gnomAD v4
19g.18785986G>ACA404884211COMPc.1468C>T (p.Pro490Ser)
c.1309C>T (p.Pro437Ser)
c.1369C>T (p.Pro457Ser)
 dbSNP gnomAD v2 gnomAD v4
19g.18785986G>CCA404884214COMPc.1468C>G (p.Pro490Ala)
c.1309C>G (p.Pro437Ala)
c.1369C>G (p.Pro457Ala)
 gnomAD v4
19g.18785986G=CA2326525511COMPc.1468C= (p.Pro490=)
c.1309C= (p.Pro437=)
c.1369C= (p.Pro457=)
19g.18785986G>TCA306255123COMPc.1468C>A (p.Pro490Thr)
c.1309C>A (p.Pro437Thr)
c.1369C>A (p.Pro457Thr)
 ClinVar dbSNP gnomAD v4
19g.18785987G>ACA9316417COMPc.1467C>T (p.Asn489=)
c.1308C>T (p.Asn436=)
c.1368C>T (p.Asn456=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18785987G>CCA404884222COMPc.1467C>G (p.Asn489Lys)
c.1308C>G (p.Asn436Lys)
c.1368C>G (p.Asn456Lys)
19g.18785987G=CA2326525512COMPc.1467C= (p.Asn489=)
c.1308C= (p.Asn436=)
c.1368C= (p.Asn456=)
19g.18785987G>TCA404884223COMPc.1467C>A (p.Asn489Lys)
c.1308C>A (p.Asn436Lys)
c.1368C>A (p.Asn456Lys)
 ClinVar dbSNP
19g.18785988T>ACA404884228COMPc.1466A>T (p.Asn489Ile)
c.1307A>T (p.Asn436Ile)
c.1367A>T (p.Asn456Ile)
19g.18785988T>CCA404884233COMPc.1466A>G (p.Asn489Ser)
c.1307A>G (p.Asn436Ser)
c.1367A>G (p.Asn456Ser)
19g.18785988T>GCA404884230COMPc.1466A>C (p.Asn489Thr)
c.1307A>C (p.Asn436Thr)
c.1367A>C (p.Asn456Thr)
 dbSNP
19g.18785988T=CA2326525513COMPc.1466A= (p.Asn489=)
c.1307A= (p.Asn436=)
c.1367A= (p.Asn456=)
19g.18785989T>ACA404884236COMPc.1465A>T (p.Asn489Tyr)
c.1306A>T (p.Asn436Tyr)
c.1366A>T (p.Asn456Tyr)
19g.18785989T>CCA404884238COMPc.1465A>G (p.Asn489Asp)
c.1306A>G (p.Asn436Asp)
c.1366A>G (p.Asn456Asp)
19g.18785989T>GCA404884241COMPc.1465A>C (p.Asn489His)
c.1306A>C (p.Asn436His)
c.1366A>C (p.Asn456His)
19g.18785990A=CA2326525514COMPc.1464T= (p.Pro488=)
c.1305T= (p.Pro435=)
c.1365T= (p.Pro455=)
19g.18785990A>CCA506117342COMPc.1464T>G (p.Pro488=)
c.1305T>G (p.Pro435=)
c.1365T>G (p.Pro455=)
19g.18785990A>GCA506117344COMPc.1464T>C (p.Pro488=)
c.1305T>C (p.Pro435=)
c.1365T>C (p.Pro455=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.18785990A>TCA506117345COMPc.1464T>A (p.Pro488=)
c.1305T>A (p.Pro435=)
c.1365T>A (p.Pro455=)
 gnomAD v4
19g.18785991G>ACA404884247COMPc.1463C>T (p.Pro488Leu)
c.1304C>T (p.Pro435Leu)
c.1364C>T (p.Pro455Leu)
19g.18785991G>CCA404884249COMPc.1463C>G (p.Pro488Arg)
c.1304C>G (p.Pro435Arg)
c.1364C>G (p.Pro455Arg)
19g.18785991G=CA2326525515COMPc.1463C= (p.Pro488=)
c.1304C= (p.Pro435=)
c.1364C= (p.Pro455=)
19g.18785991G>TCA9316418COMPc.1463C>A (p.Pro488His)
c.1304C>A (p.Pro435His)
c.1364C>A (p.Pro455His)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18785992G>ACA404884252COMPc.1462C>T (p.Pro488Ser)
c.1303C>T (p.Pro435Ser)
c.1363C>T (p.Pro455Ser)
 COSMIC
19g.18785992G>CCA404884253COMPc.1462C>G (p.Pro488Ala)
c.1303C>G (p.Pro435Ala)
c.1363C>G (p.Pro455Ala)
19g.18785992G=CA2326525516COMPc.1462C= (p.Pro488=)
c.1303C= (p.Pro435=)
c.1363C= (p.Pro455=)
19g.18785992G>TCA404884254COMPc.1462C>A (p.Pro488Thr)
c.1303C>A (p.Pro435Thr)
c.1363C>A (p.Pro455Thr)
 dbSNP gnomAD v3 gnomAD v4
19g.18785993C>ACA506117348COMPc.1461G>T (p.Val487=)
c.1302G>T (p.Val434=)
c.1362G>T (p.Val454=)
19g.18785993C>GCA506117349COMPc.1461G>C (p.Val487=)
c.1302G>C (p.Val434=)
c.1362G>C (p.Val454=)
19g.18785993C>TCA506117350COMPc.1461G>A (p.Val487=)
c.1302G>A (p.Val434=)
c.1362G>A (p.Val454=)
19g.18785994A>CCA404884256COMPc.1460T>G (p.Val487Gly)
c.1301T>G (p.Val434Gly)
c.1361T>G (p.Val454Gly)
19g.18785994A>GCA404884259COMPc.1460T>C (p.Val487Ala)
c.1301T>C (p.Val434Ala)
c.1361T>C (p.Val454Ala)
19g.18785994A>TCA404884263COMPc.1460T>A (p.Val487Glu)
c.1301T>A (p.Val434Glu)
c.1361T>A (p.Val454Glu)
19g.18785995C>ACA404884265COMPc.1459G>T (p.Val487Leu)
c.1300G>T (p.Val434Leu)
c.1360G>T (p.Val454Leu)
 COSMIC
19g.18785995C>GCA404884266COMPc.1459G>C (p.Val487Leu)
c.1300G>C (p.Val434Leu)
c.1360G>C (p.Val454Leu)
19g.18785995C>TCA404884264COMPc.1459G>A (p.Val487Met)
c.1300G>A (p.Val434Met)
c.1360G>A (p.Val454Met)
 COSMIC
19g.18785996C>ACA506117355COMPc.1458G>T (p.Leu486=)
c.1299G>T (p.Leu433=)
c.1359G>T (p.Leu453=)
19g.18785996C>GCA506117356COMPc.1458G>C (p.Leu486=)
c.1299G>C (p.Leu433=)
c.1359G>C (p.Leu453=)
19g.18785996C>TCA506117358COMPc.1458G>A (p.Leu486=)
c.1299G>A (p.Leu433=)
c.1359G>A (p.Leu453=)
19g.18785997A=CA2326525517COMPc.1457T= (p.Leu486=)
c.1298T= (p.Leu433=)
c.1358T= (p.Leu453=)
19g.18785997A>CCA404884270COMPc.1457T>G (p.Leu486Arg)
c.1298T>G (p.Leu433Arg)
c.1358T>G (p.Leu453Arg)
19g.18785997A>GCA306255165COMPc.1457T>C (p.Leu486Pro)
c.1298T>C (p.Leu433Pro)
c.1358T>C (p.Leu453Pro)
 dbSNP
19g.18785997A>TCA404884272COMPc.1457T>A (p.Leu486Gln)
c.1298T>A (p.Leu433Gln)
c.1358T>A (p.Leu453Gln)
19g.18785998G>ACA506117360COMPc.1456C>T (p.Leu486=)
c.1297C>T (p.Leu433=)
c.1357C>T (p.Leu453=)
19g.18785998G>CCA404884276COMPc.1456C>G (p.Leu486Val)
c.1297C>G (p.Leu433Val)
c.1357C>G (p.Leu453Val)
 dbSNP
19g.18785998G=CA2326525518COMPc.1456C= (p.Leu486=)
c.1297C= (p.Leu433=)
c.1357C= (p.Leu453=)
19g.18785998G>TCA306255187COMPc.1456C>A (p.Leu486Met)
c.1297C>A (p.Leu433Met)
c.1357C>A (p.Leu453Met)
 dbSNP
19g.18785999G>ACA506117361COMPc.1455C>T (p.Arg485=)
c.1296C>T (p.Arg432=)
c.1356C>T (p.Arg452=)
19g.18785999G>CCA506117363COMPc.1455C>G (p.Arg485=)
c.1296C>G (p.Arg432=)
c.1356C>G (p.Arg452=)
 gnomAD v4
19g.18785999G>TCA506117366COMPc.1455C>A (p.Arg485=)
c.1296C>A (p.Arg432=)
c.1356C>A (p.Arg452=)
19g.18786000C>ACA404884278COMPc.1454G>T (p.Arg485Leu)
c.1295G>T (p.Arg432Leu)
c.1355G>T (p.Arg452Leu)
19g.18786000C=CA2326525519COMPc.1454G= (p.Arg485=)
c.1295G= (p.Arg432=)
c.1355G= (p.Arg452=)
19g.18786000C>GCA404884280COMPc.1454G>C (p.Arg485Pro)
c.1295G>C (p.Arg432Pro)
c.1355G>C (p.Arg452Pro)
19g.18786000C>TCA404884282COMPc.1454G>A (p.Arg485His)
c.1295G>A (p.Arg432His)
c.1355G>A (p.Arg452His)
 ClinVar dbSNP
19g.18786001G>ACA404884284COMPc.1453C>T (p.Arg485Cys)
c.1294C>T (p.Arg432Cys)
c.1354C>T (p.Arg452Cys)
 dbSNP gnomAD v2 gnomAD v4
19g.18786001G>CCA9316419COMPc.1453C>G (p.Arg485Gly)
c.1294C>G (p.Arg432Gly)
c.1354C>G (p.Arg452Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18786001G=CA2326525520COMPc.1453C= (p.Arg485=)
c.1294C= (p.Arg432=)
c.1354C= (p.Arg452=)
19g.18786001G>TCA404884287COMPc.1453C>A (p.Arg485Ser)
c.1294C>A (p.Arg432Ser)
c.1354C>A (p.Arg452Ser)
 dbSNP gnomAD v2 gnomAD v4
19g.18786002G>ACA506117370COMPc.1452C>T (p.Cys484=)
c.1293C>T (p.Cys431=)
c.1353C>T (p.Cys451=)
 dbSNP
19g.18786002G>CCA404884289COMPc.1452C>G (p.Cys484Trp)
c.1293C>G (p.Cys431Trp)
c.1353C>G (p.Cys451Trp)
19g.18786002G=CA2326525521COMPc.1452C= (p.Cys484=)
c.1293C= (p.Cys431=)
c.1353C= (p.Cys451=)
19g.18786002G>TCA404884290COMPc.1452C>A (p.Cys484Ter)
c.1293C>A (p.Cys431Ter)
c.1353C>A (p.Cys451Ter)
 dbSNP gnomAD v4
19g.18786003C>ACA404884293COMPc.1451G>T (p.Cys484Phe)
c.1292G>T (p.Cys431Phe)
c.1352G>T (p.Cys451Phe)
 ClinVar
19g.18786003C>GCA404884295COMPc.1451G>C (p.Cys484Ser)
c.1292G>C (p.Cys431Ser)
c.1352G>C (p.Cys451Ser)
19g.18786003C>TCA404884296COMPc.1451G>A (p.Cys484Tyr)
c.1292G>A (p.Cys431Tyr)
c.1352G>A (p.Cys451Tyr)
19g.18786004A>CCA404884299COMPc.1450T>G (p.Cys484Gly)
c.1291T>G (p.Cys431Gly)
c.1351T>G (p.Cys451Gly)
19g.18786004A>GCA404884302COMPc.1450T>C (p.Cys484Arg)
c.1291T>C (p.Cys431Arg)
c.1351T>C (p.Cys451Arg)
19g.18786004A>TCA404884301COMPc.1450T>A (p.Cys484Ser)
c.1291T>A (p.Cys431Ser)
c.1351T>A (p.Cys451Ser)
19g.18786005G>ACA506117376COMPc.1449C>T (p.Asn483=)
c.1290C>T (p.Asn430=)
c.1350C>T (p.Asn450=)
19g.18786005G>CCA404884304COMPc.1449C>G (p.Asn483Lys)
c.1290C>G (p.Asn430Lys)
c.1350C>G (p.Asn450Lys)
19g.18786005G>TCA404884306COMPc.1449C>A (p.Asn483Lys)
c.1290C>A (p.Asn430Lys)
c.1350C>A (p.Asn450Lys)
19g.18786006T>ACA404884307COMPc.1448A>T (p.Asn483Ile)
c.1289A>T (p.Asn430Ile)
c.1349A>T (p.Asn450Ile)
19g.18786006T>CCA404884310COMPc.1448A>G (p.Asn483Ser)
c.1289A>G (p.Asn430Ser)
c.1349A>G (p.Asn450Ser)
19g.18786006T>GCA404884312COMPc.1448A>C (p.Asn483Thr)
c.1289A>C (p.Asn430Thr)
c.1349A>C (p.Asn450Thr)
19g.18786007T>ACA404884313COMPc.1447A>T (p.Asn483Tyr)
c.1288A>T (p.Asn430Tyr)
c.1348A>T (p.Asn450Tyr)
19g.18786007T>CCA404884314COMPc.1447A>G (p.Asn483Asp)
c.1288A>G (p.Asn430Asp)
c.1348A>G (p.Asn450Asp)
19g.18786007T>GCA404884315COMPc.1447A>C (p.Asn483His)
c.1288A>C (p.Asn430His)
c.1348A>C (p.Asn450His)
19g.18786008G>ACA9316420COMPc.1446C>T (p.Asp482=)
c.1287C>T (p.Asp429=)
c.1347C>T (p.Asp449=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18786008G>CCA404884316COMPc.1446C>G (p.Asp482Glu)
c.1287C>G (p.Asp429Glu)
c.1347C>G (p.Asp449Glu)
19g.18786008G=CA2326525522COMPc.1446C= (p.Asp482=)
c.1287C= (p.Asp429=)
c.1347C= (p.Asp449=)
19g.18786008G>TCA404884317COMPc.1446C>A (p.Asp482Glu)
c.1287C>A (p.Asp429Glu)
c.1347C>A (p.Asp449Glu)
 gnomAD v4
19g.18786008_18786009delinsGTCA2326525523COMPc.1445_1446delinsAC (p.Asp482=)
c.1286_1287delinsAC (p.Asp429=)
c.1346_1347delinsAC (p.Asp449=)
19g.18786009delCA306255220COMPc.1445del (p.Asp482AlafsTer?)
c.1286del (p.Asp429AlafsTer?)
c.1346del (p.Asp449AlafsTer?)
 dbSNP gnomAD v4
19g.18786009T>ACA404884323COMPc.1445A>T (p.Asp482Val)
c.1286A>T (p.Asp429Val)
c.1346A>T (p.Asp449Val)
 ClinVar dbSNP
19g.18786009T>CCA404884319COMPc.1445A>G (p.Asp482Gly)
c.1286A>G (p.Asp429Gly)
c.1346A>G (p.Asp449Gly)
19g.18786009T>GCA404884318COMPc.1445A>C (p.Asp482Ala)
c.1286A>C (p.Asp429Ala)
c.1346A>C (p.Asp449Ala)
19g.18786009T=CA2326525524COMPc.1445A= (p.Asp482=)
c.1286A= (p.Asp429=)
c.1346A= (p.Asp449=)
19g.18786010C>ACA404884331COMPc.1444G>T (p.Asp482Tyr)
c.1285G>T (p.Asp429Tyr)
c.1345G>T (p.Asp449Tyr)
19g.18786010C>GCA404884326COMPc.1444G>C (p.Asp482His)
c.1285G>C (p.Asp429His)
c.1345G>C (p.Asp449His)
19g.18786010C>TCA404884328COMPc.1444G>A (p.Asp482Asn)
c.1285G>A (p.Asp429Asn)
c.1345G>A (p.Asp449Asn)
 ClinVar dbSNP
19g.18786011C>ACA506117383COMPc.1443G>T (p.Arg481=)
c.1284G>T (p.Arg428=)
c.1344G>T (p.Arg448=)
 dbSNP gnomAD v4
19g.18786011C=CA2326525525COMPc.1443G= (p.Arg481=)
c.1284G= (p.Arg428=)
c.1344G= (p.Arg448=)
19g.18786011C>GCA506117385COMPc.1443G>C (p.Arg481=)
c.1284G>C (p.Arg428=)
c.1344G>C (p.Arg448=)
19g.18786011C>TCA506117384COMPc.1443G>A (p.Arg481=)
c.1284G>A (p.Arg428=)
c.1344G>A (p.Arg448=)
 dbSNP gnomAD v3 gnomAD v4
19g.18786012C>ACA404884337COMPc.1442G>T (p.Arg481Leu)
c.1283G>T (p.Arg428Leu)
c.1343G>T (p.Arg448Leu)
19g.18786012C=CA2326525526COMPc.1442G= (p.Arg481=)
c.1283G= (p.Arg428=)
c.1343G= (p.Arg448=)
19g.18786012C>GCA404884340COMPc.1442G>C (p.Arg481Pro)
c.1283G>C (p.Arg428Pro)
c.1343G>C (p.Arg448Pro)
 gnomAD v4
19g.18786012C>TCA9316421COMPc.1442G>A (p.Arg481Gln)
c.1283G>A (p.Arg428Gln)
c.1343G>A (p.Arg448Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18786013G>ACA9316422COMPc.1441C>T (p.Arg481Trp)
c.1282C>T (p.Arg428Trp)
c.1342C>T (p.Arg448Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18786013G>CCA404884351COMPc.1441C>G (p.Arg481Gly)
c.1282C>G (p.Arg428Gly)
c.1342C>G (p.Arg448Gly)
 gnomAD v4
19g.18786013G=CA2326525527COMPc.1441C= (p.Arg481=)
c.1282C= (p.Arg428=)
c.1342C= (p.Arg448=)
19g.18786013G>TCA506117389COMPc.1441C>A (p.Arg481=)
c.1282C>A (p.Arg428=)
c.1342C>A (p.Arg448=)
 gnomAD v4
19g.18786014A>CCA404884354COMPc.1440T>G (p.Ser480Arg)
c.1281T>G (p.Ser427Arg)
c.1341T>G (p.Ser447Arg)
19g.18786014A>GCA506117391COMPc.1440T>C (p.Ser480=)
c.1281T>C (p.Ser427=)
c.1341T>C (p.Ser447=)
19g.18786014A>TCA404884356COMPc.1440T>A (p.Ser480Arg)
c.1281T>A (p.Ser427Arg)
c.1341T>A (p.Ser447Arg)
19g.18786015C>ACA404884360COMPc.1439G>T (p.Ser480Ile)
c.1280G>T (p.Ser427Ile)
c.1340G>T (p.Ser447Ile)
19g.18786015C>GCA404884364COMPc.1439G>C (p.Ser480Thr)
c.1280G>C (p.Ser427Thr)
c.1340G>C (p.Ser447Thr)
19g.18786015C>TCA404884365COMPc.1439G>A (p.Ser480Asn)
c.1280G>A (p.Ser427Asn)
c.1340G>A (p.Ser447Asn)
 gnomAD v4
19g.18786016T>ACA404884367COMPc.1438A>T (p.Ser480Cys)
c.1279A>T (p.Ser427Cys)
c.1339A>T (p.Ser447Cys)
19g.18786016T>CCA404884368COMPc.1438A>G (p.Ser480Gly)
c.1279A>G (p.Ser427Gly)
c.1339A>G (p.Ser447Gly)
19g.18786016T>GCA404884366COMPc.1438A>C (p.Ser480Arg)
c.1279A>C (p.Ser427Arg)
c.1339A>C (p.Ser447Arg)
19g.18786017G>ACA506117394COMPc.1437C>T (p.Asp479=)
c.1278C>T (p.Asp426=)
c.1338C>T (p.Asp446=)
 dbSNP
19g.18786017G>CCA404884371COMPc.1437C>G (p.Asp479Glu)
c.1278C>G (p.Asp426Glu)
c.1338C>G (p.Asp446Glu)
19g.18786017G=CA2326525528COMPc.1437C= (p.Asp479=)
c.1278C= (p.Asp426=)
c.1338C= (p.Asp446=)
19g.18786017G>TCA404884373COMPc.1437C>A (p.Asp479Glu)
c.1278C>A (p.Asp426Glu)
c.1338C>A (p.Asp446Glu)
19g.18786021_18786032delCA915940661COMPc.1426_1437del (p.Gly476_Asp479del)
c.1267_1278del (p.Gly423_Asp426del)
c.1327_1338del (p.Gly443_Asp446del)
19g.18786018T>ACA404884376COMPc.1436A>T (p.Asp479Val)
c.1277A>T (p.Asp426Val)
c.1337A>T (p.Asp446Val)
 ClinVar
19g.18786018T>CCA404884379COMPc.1436A>G (p.Asp479Gly)
c.1277A>G (p.Asp426Gly)
c.1337A>G (p.Asp446Gly)
19g.18786018T>GCA404884381COMPc.1436A>C (p.Asp479Ala)
c.1277A>C (p.Asp426Ala)
c.1337A>C (p.Asp446Ala)
19g.18786019C>ACA404884390COMPc.1435G>T (p.Asp479Tyr)
c.1276G>T (p.Asp426Tyr)
c.1336G>T (p.Asp446Tyr)
19g.18786019C>GCA404884385COMPc.1435G>C (p.Asp479His)
c.1276G>C (p.Asp426His)
c.1336G>C (p.Asp446His)
 ClinVar dbSNP
19g.18786019C>TCA404884387COMPc.1435G>A (p.Asp479Asn)
c.1276G>A (p.Asp426Asn)
c.1336G>A (p.Asp446Asn)
19g.18786020A>CCA506117400COMPc.1434T>G (p.Pro478=)
c.1275T>G (p.Pro425=)
c.1335T>G (p.Pro445=)
 gnomAD v4
19g.18786020A>GCA506117401COMPc.1434T>C (p.Pro478=)
c.1275T>C (p.Pro425=)
c.1335T>C (p.Pro445=)
19g.18786020A>TCA506117403COMPc.1434T>A (p.Pro478=)
c.1275T>A (p.Pro425=)
c.1335T>A (p.Pro445=)
19g.18786021G>ACA404884394COMPc.1433C>T (p.Pro478Leu)
c.1274C>T (p.Pro425Leu)
c.1334C>T (p.Pro445Leu)
19g.18786021G>CCA404884396COMPc.1433C>G (p.Pro478Arg)
c.1274C>G (p.Pro425Arg)
c.1334C>G (p.Pro445Arg)
19g.18786021G=CA2326525529COMPc.1433C= (p.Pro478=)
c.1274C= (p.Pro425=)
c.1334C= (p.Pro445=)
19g.18786021G>TCA9316423COMPc.1433C>A (p.Pro478His)
c.1274C>A (p.Pro425His)
c.1334C>A (p.Pro445His)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18786022G>ACA404884402COMPc.1432C>T (p.Pro478Ser)
c.1273C>T (p.Pro425Ser)
c.1333C>T (p.Pro445Ser)
 COSMIC
19g.18786022G>CCA404884406COMPc.1432C>G (p.Pro478Ala)
c.1273C>G (p.Pro425Ala)
c.1333C>G (p.Pro445Ala)
19g.18786022G>TCA404884408COMPc.1432C>A (p.Pro478Thr)
c.1273C>A (p.Pro425Thr)
c.1333C>A (p.Pro445Thr)
19g.18786023G>ACA506117410COMPc.1431C>T (p.Val477=)
c.1272C>T (p.Val424=)
c.1332C>T (p.Val444=)
19g.18786023G>CCA506117411COMPc.1431C>G (p.Val477=)
c.1272C>G (p.Val424=)
c.1332C>G (p.Val444=)
19g.18786023G=CA2326525530COMPc.1431C= (p.Val477=)
c.1272C= (p.Val424=)
c.1332C= (p.Val444=)
19g.18786023G>TCA506117412COMPc.1431C>A (p.Val477=)
c.1272C>A (p.Val424=)
c.1332C>A (p.Val444=)
 dbSNP gnomAD v4
19g.18786024A=CA2326525531COMPc.1430T= (p.Val477=)
c.1271T= (p.Val424=)
c.1331T= (p.Val444=)
19g.18786024A>CCA404884411COMPc.1430T>G (p.Val477Gly)
c.1271T>G (p.Val424Gly)
c.1331T>G (p.Val444Gly)
19g.18786024A>GCA404884412COMPc.1430T>C (p.Val477Ala)
c.1271T>C (p.Val424Ala)
c.1331T>C (p.Val444Ala)
 dbSNP
19g.18786024A>TCA404884410COMPc.1430T>A (p.Val477Asp)
c.1271T>A (p.Val424Asp)
c.1331T>A (p.Val444Asp)
19g.18786025C>ACA404884414COMPc.1429G>T (p.Val477Phe)
c.1270G>T (p.Val424Phe)
c.1330G>T (p.Val444Phe)
19g.18786025C=CA2326525532COMPc.1429G= (p.Val477=)
c.1270G= (p.Val424=)
c.1330G= (p.Val444=)
19g.18786025C>GCA404884415COMPc.1429G>C (p.Val477Leu)
c.1270G>C (p.Val424Leu)
c.1330G>C (p.Val444Leu)
19g.18786025C>TCA404884418COMPc.1429G>A (p.Val477Ile)
c.1270G>A (p.Val424Ile)
c.1330G>A (p.Val444Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18786026T>ACA506117417COMPc.1428A>T (p.Gly476=)
c.1269A>T (p.Gly423=)
c.1329A>T (p.Gly443=)
19g.18786026T>CCA506117418COMPc.1428A>G (p.Gly476=)
c.1269A>G (p.Gly423=)
c.1329A>G (p.Gly443=)
19g.18786026T>GCA506117419COMPc.1428A>C (p.Gly476=)
c.1269A>C (p.Gly423=)
c.1329A>C (p.Gly443=)
 gnomAD v4
19g.18786027C>ACA404884421COMPc.1427G>T (p.Gly476Val)
c.1268G>T (p.Gly423Val)
c.1328G>T (p.Gly443Val)
 gnomAD v4
19g.18786027C>GCA404884424COMPc.1427G>C (p.Gly476Ala)
c.1268G>C (p.Gly423Ala)
c.1328G>C (p.Gly443Ala)
19g.18786027C>TCA404884427COMPc.1427G>A (p.Gly476Glu)
c.1268G>A (p.Gly423Glu)
c.1328G>A (p.Gly443Glu)
19g.18786028C>ACA404884430COMPc.1426G>T (p.Gly476Ter)
c.1267G>T (p.Gly423Ter)
c.1327G>T (p.Gly443Ter)
19g.18786028C=CA2326525533COMPc.1426G= (p.Gly476=)
c.1267G= (p.Gly423=)
c.1327G= (p.Gly443=)
19g.18786028C>GCA404884432COMPc.1426G>C (p.Gly476Arg)
c.1267G>C (p.Gly423Arg)
c.1327G>C (p.Gly443Arg)
19g.18786028C>TCA404884435COMPc.1426G>A (p.Gly476Arg)
c.1267G>A (p.Gly423Arg)
c.1327G>A (p.Gly443Arg)
 dbSNP gnomAD v2
19g.18786029G>ACA506117421COMPc.1425C>T (p.Asp475=)
c.1266C>T (p.Asp422=)
c.1326C>T (p.Asp442=)
 dbSNP
19g.18786029G>CCA404884436COMPc.1425C>G (p.Asp475Glu)
c.1266C>G (p.Asp422Glu)
c.1326C>G (p.Asp442Glu)
19g.18786029G=CA2326525534COMPc.1425C= (p.Asp475=)
c.1266C= (p.Asp422=)
c.1326C= (p.Asp442=)
19g.18786029G>TCA404884437COMPc.1425C>A (p.Asp475Glu)
c.1266C>A (p.Asp422Glu)
c.1326C>A (p.Asp442Glu)
 gnomAD v4
19g.18786032_18786037dupCA2695228427COMPc.1420_1425dup (p.Asp475_Gly476insAsnAsp)
c.1261_1266dup (p.Asp422_Gly423insAsnAsp)
c.1321_1326dup (p.Asp442_Gly443insAsnAsp)
 ClinVar
19g.18786030T>ACA404884442COMPc.1424A>T (p.Asp475Val)
c.1265A>T (p.Asp422Val)
c.1325A>T (p.Asp442Val)
 COSMIC
19g.18786030T>CCA404884441COMPc.1424A>G (p.Asp475Gly)
c.1265A>G (p.Asp422Gly)
c.1325A>G (p.Asp442Gly)
19g.18786030T>GCA404884439COMPc.1424A>C (p.Asp475Ala)
c.1265A>C (p.Asp422Ala)
c.1325A>C (p.Asp442Ala)
19g.18786031C>ACA404884444COMPc.1423G>T (p.Asp475Tyr)
c.1264G>T (p.Asp422Tyr)
c.1324G>T (p.Asp442Tyr)
19g.18786031C>GCA404884447COMPc.1423G>C (p.Asp475His)
c.1264G>C (p.Asp422His)
c.1324G>C (p.Asp442His)
19g.18786031C>TCA404884452COMPc.1423G>A (p.Asp475Asn)
c.1264G>A (p.Asp422Asn)
c.1324G>A (p.Asp442Asn)
 ClinVar

Number of alleles fetched