Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.18785927_18785945delinsTGGCCCCGCCCCCACCGCA | CA2326525465 | COMP | c.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) | |
19 | g.18785929_18785943dup | CA994241263 | COMP | c.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 |
19 | g.18785940_18785957dup | CA632626626 | COMP | c.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 |
19 | g.18785940_18785957del | CA9316395 | COMP | c.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 |
19 | g.18785930C>G | CA2583621928 | COMP | c.1489+35G>C (n.1489+35G>C) c.1330+35G>C (n.1330+35G>C) c.1390+35G>C (n.1390+35G>C) | gnomAD v4 |
19 | g.18785933dup | CA2583621925 | COMP | c.1489+35dup (n.1489+35dup) c.1330+35dup (n.1330+35dup) c.1390+35dup (n.1390+35dup) | gnomAD v4 |
19 | g.18785931_18785933dup | CA2583621926 | COMP | c.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 |
19 | g.18785930_18785933dup | CA2583621927 | COMP | c.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 |
19 | g.18785933del | CA2813847212 | COMP | c.1489+35del (n.1489+35del) c.1330+35del (n.1330+35del) c.1390+35del (n.1390+35del) | |
19 | g.18785931C>A | CA2583621929 | COMP | c.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 |
19 | g.18785931C= | CA2326525467 | COMP | c.1489+34G= (n.1489+34G=) c.1330+34G= (n.1330+34G=) c.1390+34G= (n.1390+34G=) | |
19 | g.18785931C>T | CA783972663 | COMP | c.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 |
19 | g.18785933C>A | CA2583621930 | COMP | c.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 |
19 | g.18785933C>T | CA2583621931 | COMP | c.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 |
19 | g.18785934G>A | CA2583621933 | COMP | c.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 |
19 | g.18785934G>C | CA306254954 | COMP | c.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 |
19 | g.18785934G= | CA2326525469 | COMP | c.1489+31C= (n.1489+31C=) c.1330+31C= (n.1330+31C=) c.1390+31C= (n.1390+31C=) | |
19 | g.18785934G>T | CA2583621934 | COMP | c.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 |
19 | g.18785934_18785935delinsGC | CA2326525468 | COMP | c.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) | |
19 | g.18785934_18785935insGCC | CA2583621935 | COMP | c.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 |
19 | g.18785935C= | CA2326525470 | COMP | c.1489+30G= (n.1489+30G=) c.1330+30G= (n.1330+30G=) c.1390+30G= (n.1390+30G=) | |
19 | g.18785935C>T | CA632626628 | COMP | c.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 |
19 | g.18785939del | CA9316397 | COMP | c.1489+30del (n.1489+30del) c.1330+30del (n.1330+30del) c.1390+30del (n.1390+30del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18785936C= | CA2326525471 | COMP | c.1489+29G= (n.1489+29G=) c.1330+29G= (n.1330+29G=) c.1390+29G= (n.1390+29G=) | |
19 | g.18785936C>T | CA306254958 | COMP | c.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 |
19 | g.18785937C>A | CA2583621936 | COMP | c.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 |
19 | g.18785937C>G | CA2583621937 | COMP | c.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 |
19 | g.18785937C>T | CA2695228426 | COMP | c.1489+28G>A (n.1489+28G>A) c.1330+28G>A (n.1330+28G>A) c.1390+28G>A (n.1390+28G>A) | |
19 | g.18785938C>A | CA2583621938 | COMP | c.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 |
19 | g.18785938C= | CA2326525472 | COMP | c.1489+27G= (n.1489+27G=) c.1330+27G= (n.1330+27G=) c.1390+27G= (n.1390+27G=) | |
19 | g.18785938C>T | CA632626630 | COMP | c.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 |
19 | g.18785940A= | CA2326525473 | COMP | c.1489+25T= (n.1489+25T=) c.1330+25T= (n.1330+25T=) c.1390+25T= (n.1390+25T=) | |
19 | g.18785940A>C | CA306254961 | COMP | c.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 |
19 | g.18785940A>G | CA9316398 | COMP | c.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 |
19 | g.18785941C= | CA2326525474 | COMP | c.1489+24G= (n.1489+24G=) c.1330+24G= (n.1330+24G=) c.1390+24G= (n.1390+24G=) | |
19 | g.18785941C>T | CA9316399 | COMP | c.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 |
19 | g.18785942C>A | CA632626632 | COMP | c.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 |
19 | g.18785942C= | CA2326525475 | COMP | c.1489+23G= (n.1489+23G=) c.1330+23G= (n.1330+23G=) c.1390+23G= (n.1390+23G=) | |
19 | g.18785942C>T | CA306254991 | COMP | c.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 |
19 | g.18785942_18785947delinsCGCAGG | CA2326525476 | COMP | c.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) | |
19 | g.18785943G>A | CA783972671 | COMP | c.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 |
19 | g.18785943G>C | CA632626633 | COMP | c.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 |
19 | g.18785943G= | CA2326525477 | COMP | c.1489+22C= (n.1489+22C=) c.1330+22C= (n.1330+22C=) c.1390+22C= (n.1390+22C=) | |
19 | g.18785943G>T | CA2583621941 | COMP | c.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 |
19 | g.18785943_18785947del | CA994241279 | COMP | c.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 |
19 | g.18785944C= | CA2326525478 | COMP | c.1489+21G= (n.1489+21G=) c.1330+21G= (n.1330+21G=) c.1390+21G= (n.1390+21G=) | |
19 | g.18785944C>T | CA2326525479 | COMP | c.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 |
19 | g.18785945A= | CA2326525480 | COMP | c.1489+20T= (n.1489+20T=) c.1330+20T= (n.1330+20T=) c.1390+20T= (n.1390+20T=) | |
19 | g.18785945A>C | CA632626635 | COMP | c.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 |
19 | g.18785945A>G | CA2583621943 | COMP | c.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 |
19 | g.18785945_18785947del | CA2583621942 | COMP | c.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 |
19 | g.18785945_18785946insC | CA2583621944 | COMP | c.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 |
19 | g.18785946G>A | CA2583621945 | COMP | c.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 |
19 | g.18785946G>C | CA632626637 | COMP | c.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 |
19 | g.18785946G= | CA2326525481 | COMP | c.1489+19C= (n.1489+19C=) c.1330+19C= (n.1330+19C=) c.1390+19C= (n.1390+19C=) | |
19 | g.18785947G>A | CA2326525483 | COMP | c.1489+18C>T (n.1489+18C>T) c.1330+18C>T (n.1330+18C>T) c.1390+18C>T (n.1390+18C>T) | dbSNP |
19 | g.18785947G>C | CA306255005 | COMP | c.1489+18C>G (n.1489+18C>G) c.1330+18C>G (n.1330+18C>G) c.1390+18C>G (n.1390+18C>G) | dbSNP |
19 | g.18785947G= | CA2326525482 | COMP | c.1489+18C= (n.1489+18C=) c.1330+18C= (n.1330+18C=) c.1390+18C= (n.1390+18C=) | |
19 | g.18785947G>T | CA2583621946 | COMP | c.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 |
19 | g.18785948C>A | CA2583621948 | COMP | c.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 |
19 | g.18785948C>G | CA2842543162 | COMP | c.1489+17G>C (n.1489+17G>C) c.1330+17G>C (n.1330+17G>C) c.1390+17G>C (n.1390+17G>C) | |
19 | g.18785951dup | CA2583621947 | COMP | c.1489+17dup (n.1489+17dup) c.1330+17dup (n.1330+17dup) c.1390+17dup (n.1390+17dup) | gnomAD v4 |
19 | g.18785949C>T | CA994241284 | COMP | c.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 |
19 | g.18785950C>A | CA2842543163 | COMP | c.1489+15G>T (n.1489+15G>T) c.1330+15G>T (n.1330+15G>T) c.1390+15G>T (n.1390+15G>T) | |
19 | g.18785950C>G | CA994241286 | COMP | c.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 |
19 | g.18785951C>A | CA2583621949 | COMP | c.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 |
19 | g.18785951C>G | CA2583621950 | COMP | c.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 |
19 | g.18785951C>T | CA2583621951 | COMP | c.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 |
19 | g.18785952del | CA2576725774 | COMP | c.1489+13del (n.1489+13del) c.1330+13del (n.1330+13del) c.1390+13del (n.1390+13del) | |
19 | g.18785952G>A | CA2576725775 | COMP | c.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 |
19 | g.18785952G>C | CA306255014 | COMP | c.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 |
19 | g.18785952G= | CA2326525484 | COMP | c.1489+13C= (n.1489+13C=) c.1330+13C= (n.1330+13C=) c.1390+13C= (n.1390+13C=) | |
19 | g.18785952G>T | CA9316400 | COMP | c.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 |
19 | g.18785953C>A | CA9316401 | COMP | c.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 |
19 | g.18785953C= | CA2326525485 | COMP | c.1489+12G= (n.1489+12G=) c.1330+12G= (n.1330+12G=) c.1390+12G= (n.1390+12G=) | |
19 | g.18785953C>T | CA2583621953 | COMP | c.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 |
19 | g.18785957del | CA2576725776 | COMP | c.1489+12del (n.1489+12del) c.1330+12del (n.1330+12del) c.1390+12del (n.1390+12del) | gnomAD v4 |
19 | g.18785954C>A | CA2583621954 | COMP | c.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 |
19 | g.18785954C= | CA2326525486 | COMP | c.1489+11G= (n.1489+11G=) c.1330+11G= (n.1330+11G=) c.1390+11G= (n.1390+11G=) | |
19 | g.18785954C>G | CA2813847217 | COMP | c.1489+11G>C (n.1489+11G>C) c.1330+11G>C (n.1330+11G>C) c.1390+11G>C (n.1390+11G>C) | |
19 | g.18785954C>T | CA632626638 | COMP | c.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 |
19 | g.18785955C>A | CA2576725777 | COMP | c.1489+10G>T (n.1489+10G>T) c.1330+10G>T (n.1330+10G>T) c.1390+10G>T (n.1390+10G>T) | |
19 | g.18785955C>T | CA2583621955 | COMP | c.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 |
19 | g.18785956C>A | CA2583621957 | COMP | c.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 |
19 | g.18785956C= | CA2326525487 | COMP | c.1489+9G= (n.1489+9G=) c.1330+9G= (n.1330+9G=) c.1390+9G= (n.1390+9G=) | |
19 | g.18785956C>T | CA2326525488 | COMP | c.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 |
19 | g.18785957C>A | CA2583621958 | COMP | c.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 |
19 | g.18785957C= | CA2326525489 | COMP | c.1489+8G= (n.1489+8G=) c.1330+8G= (n.1330+8G=) c.1390+8G= (n.1390+8G=) | |
19 | g.18785957C>T | CA9316402 | COMP | c.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 |
19 | g.18785958G>A | CA632626639 | COMP | c.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 |
19 | g.18785958G>C | CA2326525491 | COMP | c.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 |
19 | g.18785958G= | CA2326525490 | COMP | c.1489+7C= (n.1489+7C=) c.1330+7C= (n.1330+7C=) c.1390+7C= (n.1390+7C=) | |
19 | g.18785958G>T | CA2583621960 | COMP | c.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 |
19 | g.18785959C>A | CA306255041 | COMP | c.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 |
19 | g.18785959C= | CA2326525492 | COMP | c.1489+6G= (n.1489+6G=) c.1330+6G= (n.1330+6G=) c.1390+6G= (n.1390+6G=) | |
19 | g.18785959C>G | CA9316403 | COMP | c.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 |
19 | g.18785959_18785970delinsCCGTACTGTCCG | CA2326525493 | COMP | c.1484_1489+6delinsCGGACAGTACGG c.1325_1330+6delinsCGGACAGTACGG c.1385_1390+6delinsCGGACAGTACGG | |
19 | g.18785960C>A | CA2583621962 | COMP | c.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 |
19 | g.18785960C= | CA2326525494 | COMP | c.1489+5G= (n.1489+5G=) c.1330+5G= (n.1330+5G=) c.1390+5G= (n.1390+5G=) | |
19 | g.18785960C>T | CA306255043 | COMP | c.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 |
19 | g.18785963_18785973del | CA632626640 | COMP | c.1484_1489+5del c.1325_1330+5del c.1385_1390+5del | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18785961G>A | CA632626641 | COMP | c.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 |
19 | g.18785961G>C | CA2583621964 | COMP | c.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 |
19 | g.18785961G= | CA2326525495 | COMP | c.1489+4C= (n.1489+4C=) c.1330+4C= (n.1330+4C=) c.1390+4C= (n.1390+4C=) | |
19 | g.18785961G>T | CA2576725778 | COMP | c.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 |
19 | g.18785962T>G | CA2583621965 | COMP | c.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 |
19 | g.18785963A= | CA2326525496 | COMP | c.1489+2T= (n.1489+2T=) c.1330+2T= (n.1330+2T=) c.1390+2T= (n.1390+2T=) | |
19 | g.18785963A>C | CA404884023 | COMP | c.1489+2T>G (n.1489+2T>G) c.1330+2T>G (n.1330+2T>G) c.1390+2T>G (n.1390+2T>G) | |
19 | g.18785963A>G | CA404884025 | COMP | c.1489+2T>C (n.1489+2T>C) c.1330+2T>C (n.1330+2T>C) c.1390+2T>C (n.1390+2T>C) | |
19 | g.18785963A>T | CA404884029 | COMP | c.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 |
19 | g.18785964C>A | CA306255048 | COMP | c.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 |
19 | g.18785964C= | CA2326525497 | COMP | c.1489+1G= (n.1489+1G=) c.1330+1G= (n.1330+1G=) c.1390+1G= (n.1390+1G=) | |
19 | g.18785964C>G | CA9316404 | COMP | c.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 |
19 | g.18785964C>T | CA404884037 | COMP | c.1489+1G>A (n.1489+1G>A) c.1330+1G>A (n.1330+1G>A) c.1390+1G>A (n.1390+1G>A) | |
19 | g.18785965T>A | CA404884043 | COMP | c.1489A>T (p.Arg497Trp) c.1330A>T (p.Arg444Trp) c.1390A>T (p.Arg464Trp) | gnomAD v4 |
19 | g.18785965T>C | CA404884046 | COMP | c.1489A>G (p.Arg497Gly) c.1330A>G (p.Arg444Gly) c.1390A>G (p.Arg464Gly) | |
19 | g.18785965T>G | CA506117277 | COMP | c.1489A>C (p.Arg497=) c.1330A>C (p.Arg444=) c.1390A>C (p.Arg464=) | |
19 | g.18785966G>A | CA506117280 | COMP | c.1488C>T (p.Asp496=) c.1329C>T (p.Asp443=) c.1389C>T (p.Asp463=) | |
19 | g.18785966G>C | CA404884050 | COMP | c.1488C>G (p.Asp496Glu) c.1329C>G (p.Asp443Glu) c.1389C>G (p.Asp463Glu) | gnomAD v4 |
19 | g.18785966G= | CA2326525498 | COMP | c.1488C= (p.Asp496=) c.1329C= (p.Asp443=) c.1389C= (p.Asp463=) | |
19 | g.18785966G>T | CA9316405 | COMP | c.1488C>A (p.Asp496Glu) c.1329C>A (p.Asp443Glu) c.1389C>A (p.Asp463Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18785967T>A | CA404884058 | COMP | c.1487A>T (p.Asp496Val) c.1328A>T (p.Asp443Val) c.1388A>T (p.Asp463Val) | |
19 | g.18785967T>C | CA9316406 | COMP | c.1487A>G (p.Asp496Gly) c.1328A>G (p.Asp443Gly) c.1388A>G (p.Asp463Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18785967T>G | CA404884062 | COMP | c.1487A>C (p.Asp496Ala) c.1328A>C (p.Asp443Ala) c.1388A>C (p.Asp463Ala) | |
19 | g.18785967T= | CA2326525499 | COMP | c.1487A= (p.Asp496=) c.1328A= (p.Asp443=) c.1388A= (p.Asp463=) | |
19 | g.18785968C>A | CA9316407 | COMP | c.1486G>T (p.Asp496Tyr) c.1327G>T (p.Asp443Tyr) c.1387G>T (p.Asp463Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18785968C= | CA2326525500 | COMP | c.1486G= (p.Asp496=) c.1327G= (p.Asp443=) c.1387G= (p.Asp463=) | |
19 | g.18785968C>G | CA404884068 | COMP | c.1486G>C (p.Asp496His) c.1327G>C (p.Asp443His) c.1387G>C (p.Asp463His) | |
19 | g.18785968C>T | CA404884071 | COMP | c.1486G>A (p.Asp496Asn) c.1327G>A (p.Asp443Asn) c.1387G>A (p.Asp463Asn) | |
19 | g.18785969C>A | CA506117293 | COMP | c.1485G>T (p.Ala495=) c.1326G>T (p.Ala442=) c.1386G>T (p.Ala462=) | |
19 | g.18785969C= | CA2326525501 | COMP | c.1485G= (p.Ala495=) c.1326G= (p.Ala442=) c.1386G= (p.Ala462=) | |
19 | g.18785969C>G | CA506117288 | COMP | c.1485G>C (p.Ala495=) c.1326G>C (p.Ala442=) c.1386G>C (p.Ala462=) | gnomAD v4 |
19 | g.18785969C>T | CA9316408 | COMP | c.1485G>A (p.Ala495=) c.1326G>A (p.Ala442=) c.1386G>A (p.Ala462=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18785970G>A | CA9316409 | COMP | c.1484C>T (p.Ala495Val) c.1325C>T (p.Ala442Val) c.1385C>T (p.Ala462Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18785970G>C | CA404884081 | COMP | c.1484C>G (p.Ala495Gly) c.1325C>G (p.Ala442Gly) c.1385C>G (p.Ala462Gly) | |
19 | g.18785970G= | CA2326525502 | COMP | c.1484C= (p.Ala495=) c.1325C= (p.Ala442=) c.1385C= (p.Ala462=) | |
19 | g.18785970G>T | CA9316410 | COMP | c.1484C>A (p.Ala495Glu) c.1325C>A (p.Ala442Glu) c.1385C>A (p.Ala462Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18785971C>A | CA404884092 | COMP | c.1483G>T (p.Ala495Ser) c.1324G>T (p.Ala442Ser) c.1384G>T (p.Ala462Ser) | gnomAD v4 |
19 | g.18785971C= | CA2326525503 | COMP | c.1483G= (p.Ala495=) c.1324G= (p.Ala442=) c.1384G= (p.Ala462=) | |
19 | g.18785971C>G | CA404884085 | COMP | c.1483G>C (p.Ala495Pro) c.1324G>C (p.Ala442Pro) c.1384G>C (p.Ala462Pro) | gnomAD v4 |
19 | g.18785971C>T | CA9316411 | COMP | c.1483G>A (p.Ala495Thr) c.1324G>A (p.Ala442Thr) c.1384G>A (p.Ala462Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18785972G>A | CA506117298 | COMP | c.1482C>T (p.Asp494=) c.1323C>T (p.Asp441=) c.1383C>T (p.Asp461=) | |
19 | g.18785972G>C | CA404884093 | COMP | c.1482C>G (p.Asp494Glu) c.1323C>G (p.Asp441Glu) c.1383C>G (p.Asp461Glu) | |
19 | g.18785972G>T | CA404884095 | COMP | c.1482C>A (p.Asp494Glu) c.1323C>A (p.Asp441Glu) c.1383C>A (p.Asp461Glu) | |
19 | g.18785972_18785975delinsGTCC | CA2326525504 | COMP | c.1479_1482delinsGGAC (p.Glu493=) c.1320_1323delinsGGAC (p.Glu440=) c.1380_1383delinsGGAC (p.Glu460=) | |
19 | g.18785973T>A | CA404884099 | COMP | c.1481A>T (p.Asp494Val) c.1322A>T (p.Asp441Val) c.1382A>T (p.Asp461Val) | |
19 | g.18785973T>C | CA404884101 | COMP | c.1481A>G (p.Asp494Gly) c.1322A>G (p.Asp441Gly) c.1382A>G (p.Asp461Gly) | ClinVar dbSNP |
19 | g.18785973T>G | CA404884104 | COMP | c.1481A>C (p.Asp494Ala) c.1322A>C (p.Asp441Ala) c.1382A>C (p.Asp461Ala) | |
19 | g.18785977_18785979del | CA9316412 | COMP | c.1479_1481del (p.Glu493del) c.1320_1322del (p.Glu440del) c.1380_1382del (p.Glu460del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18785974C>A | CA404884108 | COMP | c.1480G>T (p.Asp494Tyr) c.1321G>T (p.Asp441Tyr) c.1381G>T (p.Asp461Tyr) | gnomAD v4 |
19 | g.18785974C>G | CA404884110 | COMP | c.1480G>C (p.Asp494His) c.1321G>C (p.Asp441His) c.1381G>C (p.Asp461His) | |
19 | g.18785974C>T | CA404884113 | COMP | c.1480G>A (p.Asp494Asn) c.1321G>A (p.Asp441Asn) c.1381G>A (p.Asp461Asn) | |
19 | g.18785975C>A | CA404884115 | COMP | c.1479G>T (p.Glu493Asp) c.1320G>T (p.Glu440Asp) c.1380G>T (p.Glu460Asp) | |
19 | g.18785975C>G | CA404884117 | COMP | c.1479G>C (p.Glu493Asp) c.1320G>C (p.Glu440Asp) c.1380G>C (p.Glu460Asp) | |
19 | g.18785975C>T | CA506117306 | COMP | c.1479G>A (p.Glu493=) c.1320G>A (p.Glu440=) c.1380G>A (p.Glu460=) | gnomAD v4 |
19 | g.18785976T>A | CA404884127 | COMP | c.1478A>T (p.Glu493Val) c.1319A>T (p.Glu440Val) c.1379A>T (p.Glu460Val) | |
19 | g.18785976T>C | CA404884122 | COMP | c.1478A>G (p.Glu493Gly) c.1319A>G (p.Glu440Gly) c.1379A>G (p.Glu460Gly) | dbSNP |
19 | g.18785976T>G | CA404884124 | COMP | c.1478A>C (p.Glu493Ala) c.1319A>C (p.Glu440Ala) c.1379A>C (p.Glu460Ala) | |
19 | g.18785976T= | CA2326525505 | COMP | c.1478A= (p.Glu493=) c.1319A= (p.Glu440=) c.1379A= (p.Glu460=) | |
19 | g.18785977C>A | CA404884133 | COMP | c.1477G>T (p.Glu493Ter) c.1318G>T (p.Glu440Ter) c.1378G>T (p.Glu460Ter) | |
19 | g.18785977C>G | CA404884135 | COMP | c.1477G>C (p.Glu493Gln) c.1318G>C (p.Glu440Gln) c.1378G>C (p.Glu460Gln) | |
19 | g.18785977C>T | CA404884137 | COMP | c.1477G>A (p.Glu493Lys) c.1318G>A (p.Glu440Lys) c.1378G>A (p.Glu460Lys) | |
19 | g.18785978C>A | CA404884141 | COMP | c.1476G>T (p.Gln492His) c.1317G>T (p.Gln439His) c.1377G>T (p.Gln459His) | |
19 | g.18785978C>G | CA404884153 | COMP | c.1476G>C (p.Gln492His) c.1317G>C (p.Gln439His) c.1377G>C (p.Gln459His) | |
19 | g.18785978C>T | CA506117312 | COMP | c.1476G>A (p.Gln492=) c.1317G>A (p.Gln439=) c.1377G>A (p.Gln459=) | |
19 | g.18785979T>A | CA404884156 | COMP | c.1475A>T (p.Gln492Leu) c.1316A>T (p.Gln439Leu) c.1376A>T (p.Gln459Leu) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
19 | g.18785979T>C | CA404884158 | COMP | c.1475A>G (p.Gln492Arg) c.1316A>G (p.Gln439Arg) c.1376A>G (p.Gln459Arg) | gnomAD v4 |
19 | g.18785979T>G | CA404884162 | COMP | c.1475A>C (p.Gln492Pro) c.1316A>C (p.Gln439Pro) c.1376A>C (p.Gln459Pro) | ClinVar dbSNP gnomAD v4 |
19 | g.18785979T= | CA2326525506 | COMP | c.1475A= (p.Gln492=) c.1316A= (p.Gln439=) c.1376A= (p.Gln459=) | |
19 | g.18785980G>A | CA404884164 | COMP | c.1474C>T (p.Gln492Ter) c.1315C>T (p.Gln439Ter) c.1375C>T (p.Gln459Ter) | dbSNP |
19 | g.18785980G>C | CA404884167 | COMP | c.1474C>G (p.Gln492Glu) c.1315C>G (p.Gln439Glu) c.1375C>G (p.Gln459Glu) | |
19 | g.18785980G= | CA2326525507 | COMP | c.1474C= (p.Gln492=) c.1315C= (p.Gln439=) c.1375C= (p.Gln459=) | |
19 | g.18785980G>T | CA404884170 | COMP | c.1474C>A (p.Gln492Lys) c.1315C>A (p.Gln439Lys) c.1375C>A (p.Gln459Lys) | |
19 | g.18785981G>A | CA506117317 | COMP | c.1473C>T (p.Gly491=) c.1314C>T (p.Gly438=) c.1374C>T (p.Gly458=) | |
19 | g.18785981G>C | CA506117318 | COMP | c.1473C>G (p.Gly491=) c.1314C>G (p.Gly438=) c.1374C>G (p.Gly458=) | |
19 | g.18785981G>T | CA506117319 | COMP | c.1473C>A (p.Gly491=) c.1314C>A (p.Gly438=) c.1374C>A (p.Gly458=) | |
19 | g.18785982C>A | CA404884177 | COMP | c.1472G>T (p.Gly491Val) c.1313G>T (p.Gly438Val) c.1373G>T (p.Gly458Val) | |
19 | g.18785982C>G | CA404884174 | COMP | c.1472G>C (p.Gly491Ala) c.1313G>C (p.Gly438Ala) c.1373G>C (p.Gly458Ala) | |
19 | g.18785982C>T | CA404884173 | COMP | c.1472G>A (p.Gly491Asp) c.1313G>A (p.Gly438Asp) c.1373G>A (p.Gly458Asp) | |
19 | g.18785983del | CA2842543166 | COMP | c.1472del (p.Gly491AlafsTer24) c.1313del (p.Gly438AlafsTer24) c.1373del (p.Gly458AlafsTer24) | |
19 | g.18785983C>A | CA404884187 | COMP | c.1471G>T (p.Gly491Cys) c.1312G>T (p.Gly438Cys) c.1372G>T (p.Gly458Cys) | |
19 | g.18785983C= | CA2326525508 | COMP | c.1471G= (p.Gly491=) c.1312G= (p.Gly438=) c.1372G= (p.Gly458=) | |
19 | g.18785983C>G | CA404884190 | COMP | c.1471G>C (p.Gly491Arg) c.1312G>C (p.Gly438Arg) c.1372G>C (p.Gly458Arg) | |
19 | g.18785983C>T | CA9316413 | COMP | c.1471G>A (p.Gly491Ser) c.1312G>A (p.Gly438Ser) c.1372G>A (p.Gly458Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18785984G>A | CA506117328 | COMP | c.1470C>T (p.Pro490=) c.1311C>T (p.Pro437=) c.1371C>T (p.Pro457=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18785984G>C | CA9316415 | COMP | c.1470C>G (p.Pro490=) c.1311C>G (p.Pro437=) c.1371C>G (p.Pro457=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18785984G= | CA2326525509 | COMP | c.1470C= (p.Pro490=) c.1311C= (p.Pro437=) c.1371C= (p.Pro457=) | |
19 | g.18785984G>T | CA9316414 | COMP | c.1470C>A (p.Pro490=) c.1311C>A (p.Pro437=) c.1371C>A (p.Pro457=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18785987del | CA2576725779 | COMP | c.1470del (p.Gly491AlafsTer24) c.1311del (p.Gly438AlafsTer24) c.1371del (p.Gly458AlafsTer24) | gnomAD v4 |
19 | g.18785985G>A | CA9316416 | COMP | c.1469C>T (p.Pro490Leu) c.1310C>T (p.Pro437Leu) c.1370C>T (p.Pro457Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18785985G>C | CA306255118 | COMP | c.1469C>G (p.Pro490Arg) c.1310C>G (p.Pro437Arg) c.1370C>G (p.Pro457Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18785985G= | CA2326525510 | COMP | c.1469C= (p.Pro490=) c.1310C= (p.Pro437=) c.1370C= (p.Pro457=) | |
19 | g.18785985G>T | CA404884202 | COMP | c.1469C>A (p.Pro490His) c.1310C>A (p.Pro437His) c.1370C>A (p.Pro457His) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18785986G>A | CA404884211 | COMP | c.1468C>T (p.Pro490Ser) c.1309C>T (p.Pro437Ser) c.1369C>T (p.Pro457Ser) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18785986G>C | CA404884214 | COMP | c.1468C>G (p.Pro490Ala) c.1309C>G (p.Pro437Ala) c.1369C>G (p.Pro457Ala) | gnomAD v4 |
19 | g.18785986G= | CA2326525511 | COMP | c.1468C= (p.Pro490=) c.1309C= (p.Pro437=) c.1369C= (p.Pro457=) | |
19 | g.18785986G>T | CA306255123 | COMP | c.1468C>A (p.Pro490Thr) c.1309C>A (p.Pro437Thr) c.1369C>A (p.Pro457Thr) | ClinVar dbSNP gnomAD v4 |
19 | g.18785987G>A | CA9316417 | COMP | c.1467C>T (p.Asn489=) c.1308C>T (p.Asn436=) c.1368C>T (p.Asn456=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18785987G>C | CA404884222 | COMP | c.1467C>G (p.Asn489Lys) c.1308C>G (p.Asn436Lys) c.1368C>G (p.Asn456Lys) | |
19 | g.18785987G= | CA2326525512 | COMP | c.1467C= (p.Asn489=) c.1308C= (p.Asn436=) c.1368C= (p.Asn456=) | |
19 | g.18785987G>T | CA404884223 | COMP | c.1467C>A (p.Asn489Lys) c.1308C>A (p.Asn436Lys) c.1368C>A (p.Asn456Lys) | ClinVar dbSNP |
19 | g.18785988T>A | CA404884228 | COMP | c.1466A>T (p.Asn489Ile) c.1307A>T (p.Asn436Ile) c.1367A>T (p.Asn456Ile) | |
19 | g.18785988T>C | CA404884233 | COMP | c.1466A>G (p.Asn489Ser) c.1307A>G (p.Asn436Ser) c.1367A>G (p.Asn456Ser) | |
19 | g.18785988T>G | CA404884230 | COMP | c.1466A>C (p.Asn489Thr) c.1307A>C (p.Asn436Thr) c.1367A>C (p.Asn456Thr) | dbSNP |
19 | g.18785988T= | CA2326525513 | COMP | c.1466A= (p.Asn489=) c.1307A= (p.Asn436=) c.1367A= (p.Asn456=) | |
19 | g.18785989T>A | CA404884236 | COMP | c.1465A>T (p.Asn489Tyr) c.1306A>T (p.Asn436Tyr) c.1366A>T (p.Asn456Tyr) | |
19 | g.18785989T>C | CA404884238 | COMP | c.1465A>G (p.Asn489Asp) c.1306A>G (p.Asn436Asp) c.1366A>G (p.Asn456Asp) | |
19 | g.18785989T>G | CA404884241 | COMP | c.1465A>C (p.Asn489His) c.1306A>C (p.Asn436His) c.1366A>C (p.Asn456His) | |
19 | g.18785990A= | CA2326525514 | COMP | c.1464T= (p.Pro488=) c.1305T= (p.Pro435=) c.1365T= (p.Pro455=) | |
19 | g.18785990A>C | CA506117342 | COMP | c.1464T>G (p.Pro488=) c.1305T>G (p.Pro435=) c.1365T>G (p.Pro455=) | |
19 | g.18785990A>G | CA506117344 | COMP | c.1464T>C (p.Pro488=) c.1305T>C (p.Pro435=) c.1365T>C (p.Pro455=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.18785990A>T | CA506117345 | COMP | c.1464T>A (p.Pro488=) c.1305T>A (p.Pro435=) c.1365T>A (p.Pro455=) | gnomAD v4 |
19 | g.18785991G>A | CA404884247 | COMP | c.1463C>T (p.Pro488Leu) c.1304C>T (p.Pro435Leu) c.1364C>T (p.Pro455Leu) | |
19 | g.18785991G>C | CA404884249 | COMP | c.1463C>G (p.Pro488Arg) c.1304C>G (p.Pro435Arg) c.1364C>G (p.Pro455Arg) | |
19 | g.18785991G= | CA2326525515 | COMP | c.1463C= (p.Pro488=) c.1304C= (p.Pro435=) c.1364C= (p.Pro455=) | |
19 | g.18785991G>T | CA9316418 | COMP | c.1463C>A (p.Pro488His) c.1304C>A (p.Pro435His) c.1364C>A (p.Pro455His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18785992G>A | CA404884252 | COMP | c.1462C>T (p.Pro488Ser) c.1303C>T (p.Pro435Ser) c.1363C>T (p.Pro455Ser) | COSMIC |
19 | g.18785992G>C | CA404884253 | COMP | c.1462C>G (p.Pro488Ala) c.1303C>G (p.Pro435Ala) c.1363C>G (p.Pro455Ala) | |
19 | g.18785992G= | CA2326525516 | COMP | c.1462C= (p.Pro488=) c.1303C= (p.Pro435=) c.1363C= (p.Pro455=) | |
19 | g.18785992G>T | CA404884254 | COMP | c.1462C>A (p.Pro488Thr) c.1303C>A (p.Pro435Thr) c.1363C>A (p.Pro455Thr) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18785993C>A | CA506117348 | COMP | c.1461G>T (p.Val487=) c.1302G>T (p.Val434=) c.1362G>T (p.Val454=) | |
19 | g.18785993C>G | CA506117349 | COMP | c.1461G>C (p.Val487=) c.1302G>C (p.Val434=) c.1362G>C (p.Val454=) | |
19 | g.18785993C>T | CA506117350 | COMP | c.1461G>A (p.Val487=) c.1302G>A (p.Val434=) c.1362G>A (p.Val454=) | |
19 | g.18785994A>C | CA404884256 | COMP | c.1460T>G (p.Val487Gly) c.1301T>G (p.Val434Gly) c.1361T>G (p.Val454Gly) | |
19 | g.18785994A>G | CA404884259 | COMP | c.1460T>C (p.Val487Ala) c.1301T>C (p.Val434Ala) c.1361T>C (p.Val454Ala) | |
19 | g.18785994A>T | CA404884263 | COMP | c.1460T>A (p.Val487Glu) c.1301T>A (p.Val434Glu) c.1361T>A (p.Val454Glu) | |
19 | g.18785995C>A | CA404884265 | COMP | c.1459G>T (p.Val487Leu) c.1300G>T (p.Val434Leu) c.1360G>T (p.Val454Leu) | COSMIC |
19 | g.18785995C>G | CA404884266 | COMP | c.1459G>C (p.Val487Leu) c.1300G>C (p.Val434Leu) c.1360G>C (p.Val454Leu) | |
19 | g.18785995C>T | CA404884264 | COMP | c.1459G>A (p.Val487Met) c.1300G>A (p.Val434Met) c.1360G>A (p.Val454Met) | COSMIC |
19 | g.18785996C>A | CA506117355 | COMP | c.1458G>T (p.Leu486=) c.1299G>T (p.Leu433=) c.1359G>T (p.Leu453=) | |
19 | g.18785996C>G | CA506117356 | COMP | c.1458G>C (p.Leu486=) c.1299G>C (p.Leu433=) c.1359G>C (p.Leu453=) | |
19 | g.18785996C>T | CA506117358 | COMP | c.1458G>A (p.Leu486=) c.1299G>A (p.Leu433=) c.1359G>A (p.Leu453=) | |
19 | g.18785997A= | CA2326525517 | COMP | c.1457T= (p.Leu486=) c.1298T= (p.Leu433=) c.1358T= (p.Leu453=) | |
19 | g.18785997A>C | CA404884270 | COMP | c.1457T>G (p.Leu486Arg) c.1298T>G (p.Leu433Arg) c.1358T>G (p.Leu453Arg) | |
19 | g.18785997A>G | CA306255165 | COMP | c.1457T>C (p.Leu486Pro) c.1298T>C (p.Leu433Pro) c.1358T>C (p.Leu453Pro) | dbSNP |
19 | g.18785997A>T | CA404884272 | COMP | c.1457T>A (p.Leu486Gln) c.1298T>A (p.Leu433Gln) c.1358T>A (p.Leu453Gln) | |
19 | g.18785998G>A | CA506117360 | COMP | c.1456C>T (p.Leu486=) c.1297C>T (p.Leu433=) c.1357C>T (p.Leu453=) | |
19 | g.18785998G>C | CA404884276 | COMP | c.1456C>G (p.Leu486Val) c.1297C>G (p.Leu433Val) c.1357C>G (p.Leu453Val) | dbSNP |
19 | g.18785998G= | CA2326525518 | COMP | c.1456C= (p.Leu486=) c.1297C= (p.Leu433=) c.1357C= (p.Leu453=) | |
19 | g.18785998G>T | CA306255187 | COMP | c.1456C>A (p.Leu486Met) c.1297C>A (p.Leu433Met) c.1357C>A (p.Leu453Met) | dbSNP |
19 | g.18785999G>A | CA506117361 | COMP | c.1455C>T (p.Arg485=) c.1296C>T (p.Arg432=) c.1356C>T (p.Arg452=) | |
19 | g.18785999G>C | CA506117363 | COMP | c.1455C>G (p.Arg485=) c.1296C>G (p.Arg432=) c.1356C>G (p.Arg452=) | gnomAD v4 |
19 | g.18785999G>T | CA506117366 | COMP | c.1455C>A (p.Arg485=) c.1296C>A (p.Arg432=) c.1356C>A (p.Arg452=) | |
19 | g.18786000C>A | CA404884278 | COMP | c.1454G>T (p.Arg485Leu) c.1295G>T (p.Arg432Leu) c.1355G>T (p.Arg452Leu) | |
19 | g.18786000C= | CA2326525519 | COMP | c.1454G= (p.Arg485=) c.1295G= (p.Arg432=) c.1355G= (p.Arg452=) | |
19 | g.18786000C>G | CA404884280 | COMP | c.1454G>C (p.Arg485Pro) c.1295G>C (p.Arg432Pro) c.1355G>C (p.Arg452Pro) | |
19 | g.18786000C>T | CA404884282 | COMP | c.1454G>A (p.Arg485His) c.1295G>A (p.Arg432His) c.1355G>A (p.Arg452His) | ClinVar dbSNP |
19 | g.18786001G>A | CA404884284 | COMP | c.1453C>T (p.Arg485Cys) c.1294C>T (p.Arg432Cys) c.1354C>T (p.Arg452Cys) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18786001G>C | CA9316419 | COMP | c.1453C>G (p.Arg485Gly) c.1294C>G (p.Arg432Gly) c.1354C>G (p.Arg452Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18786001G= | CA2326525520 | COMP | c.1453C= (p.Arg485=) c.1294C= (p.Arg432=) c.1354C= (p.Arg452=) | |
19 | g.18786001G>T | CA404884287 | COMP | c.1453C>A (p.Arg485Ser) c.1294C>A (p.Arg432Ser) c.1354C>A (p.Arg452Ser) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18786002G>A | CA506117370 | COMP | c.1452C>T (p.Cys484=) c.1293C>T (p.Cys431=) c.1353C>T (p.Cys451=) | dbSNP |
19 | g.18786002G>C | CA404884289 | COMP | c.1452C>G (p.Cys484Trp) c.1293C>G (p.Cys431Trp) c.1353C>G (p.Cys451Trp) | |
19 | g.18786002G= | CA2326525521 | COMP | c.1452C= (p.Cys484=) c.1293C= (p.Cys431=) c.1353C= (p.Cys451=) | |
19 | g.18786002G>T | CA404884290 | COMP | c.1452C>A (p.Cys484Ter) c.1293C>A (p.Cys431Ter) c.1353C>A (p.Cys451Ter) | dbSNP gnomAD v4 |
19 | g.18786003C>A | CA404884293 | COMP | c.1451G>T (p.Cys484Phe) c.1292G>T (p.Cys431Phe) c.1352G>T (p.Cys451Phe) | ClinVar |
19 | g.18786003C>G | CA404884295 | COMP | c.1451G>C (p.Cys484Ser) c.1292G>C (p.Cys431Ser) c.1352G>C (p.Cys451Ser) | |
19 | g.18786003C>T | CA404884296 | COMP | c.1451G>A (p.Cys484Tyr) c.1292G>A (p.Cys431Tyr) c.1352G>A (p.Cys451Tyr) | |
19 | g.18786004A>C | CA404884299 | COMP | c.1450T>G (p.Cys484Gly) c.1291T>G (p.Cys431Gly) c.1351T>G (p.Cys451Gly) | |
19 | g.18786004A>G | CA404884302 | COMP | c.1450T>C (p.Cys484Arg) c.1291T>C (p.Cys431Arg) c.1351T>C (p.Cys451Arg) | |
19 | g.18786004A>T | CA404884301 | COMP | c.1450T>A (p.Cys484Ser) c.1291T>A (p.Cys431Ser) c.1351T>A (p.Cys451Ser) | |
19 | g.18786005G>A | CA506117376 | COMP | c.1449C>T (p.Asn483=) c.1290C>T (p.Asn430=) c.1350C>T (p.Asn450=) | |
19 | g.18786005G>C | CA404884304 | COMP | c.1449C>G (p.Asn483Lys) c.1290C>G (p.Asn430Lys) c.1350C>G (p.Asn450Lys) | |
19 | g.18786005G>T | CA404884306 | COMP | c.1449C>A (p.Asn483Lys) c.1290C>A (p.Asn430Lys) c.1350C>A (p.Asn450Lys) | |
19 | g.18786006T>A | CA404884307 | COMP | c.1448A>T (p.Asn483Ile) c.1289A>T (p.Asn430Ile) c.1349A>T (p.Asn450Ile) | |
19 | g.18786006T>C | CA404884310 | COMP | c.1448A>G (p.Asn483Ser) c.1289A>G (p.Asn430Ser) c.1349A>G (p.Asn450Ser) | |
19 | g.18786006T>G | CA404884312 | COMP | c.1448A>C (p.Asn483Thr) c.1289A>C (p.Asn430Thr) c.1349A>C (p.Asn450Thr) | |
19 | g.18786007T>A | CA404884313 | COMP | c.1447A>T (p.Asn483Tyr) c.1288A>T (p.Asn430Tyr) c.1348A>T (p.Asn450Tyr) | |
19 | g.18786007T>C | CA404884314 | COMP | c.1447A>G (p.Asn483Asp) c.1288A>G (p.Asn430Asp) c.1348A>G (p.Asn450Asp) | |
19 | g.18786007T>G | CA404884315 | COMP | c.1447A>C (p.Asn483His) c.1288A>C (p.Asn430His) c.1348A>C (p.Asn450His) | |
19 | g.18786008G>A | CA9316420 | COMP | c.1446C>T (p.Asp482=) c.1287C>T (p.Asp429=) c.1347C>T (p.Asp449=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18786008G>C | CA404884316 | COMP | c.1446C>G (p.Asp482Glu) c.1287C>G (p.Asp429Glu) c.1347C>G (p.Asp449Glu) | |
19 | g.18786008G= | CA2326525522 | COMP | c.1446C= (p.Asp482=) c.1287C= (p.Asp429=) c.1347C= (p.Asp449=) | |
19 | g.18786008G>T | CA404884317 | COMP | c.1446C>A (p.Asp482Glu) c.1287C>A (p.Asp429Glu) c.1347C>A (p.Asp449Glu) | gnomAD v4 |
19 | g.18786008_18786009delinsGT | CA2326525523 | COMP | c.1445_1446delinsAC (p.Asp482=) c.1286_1287delinsAC (p.Asp429=) c.1346_1347delinsAC (p.Asp449=) | |
19 | g.18786009del | CA306255220 | COMP | c.1445del (p.Asp482AlafsTer?) c.1286del (p.Asp429AlafsTer?) c.1346del (p.Asp449AlafsTer?) | dbSNP gnomAD v4 |
19 | g.18786009T>A | CA404884323 | COMP | c.1445A>T (p.Asp482Val) c.1286A>T (p.Asp429Val) c.1346A>T (p.Asp449Val) | ClinVar dbSNP |
19 | g.18786009T>C | CA404884319 | COMP | c.1445A>G (p.Asp482Gly) c.1286A>G (p.Asp429Gly) c.1346A>G (p.Asp449Gly) | |
19 | g.18786009T>G | CA404884318 | COMP | c.1445A>C (p.Asp482Ala) c.1286A>C (p.Asp429Ala) c.1346A>C (p.Asp449Ala) | |
19 | g.18786009T= | CA2326525524 | COMP | c.1445A= (p.Asp482=) c.1286A= (p.Asp429=) c.1346A= (p.Asp449=) | |
19 | g.18786010C>A | CA404884331 | COMP | c.1444G>T (p.Asp482Tyr) c.1285G>T (p.Asp429Tyr) c.1345G>T (p.Asp449Tyr) | |
19 | g.18786010C>G | CA404884326 | COMP | c.1444G>C (p.Asp482His) c.1285G>C (p.Asp429His) c.1345G>C (p.Asp449His) | |
19 | g.18786010C>T | CA404884328 | COMP | c.1444G>A (p.Asp482Asn) c.1285G>A (p.Asp429Asn) c.1345G>A (p.Asp449Asn) | ClinVar dbSNP |
19 | g.18786011C>A | CA506117383 | COMP | c.1443G>T (p.Arg481=) c.1284G>T (p.Arg428=) c.1344G>T (p.Arg448=) | dbSNP gnomAD v4 |
19 | g.18786011C= | CA2326525525 | COMP | c.1443G= (p.Arg481=) c.1284G= (p.Arg428=) c.1344G= (p.Arg448=) | |
19 | g.18786011C>G | CA506117385 | COMP | c.1443G>C (p.Arg481=) c.1284G>C (p.Arg428=) c.1344G>C (p.Arg448=) | |
19 | g.18786011C>T | CA506117384 | COMP | c.1443G>A (p.Arg481=) c.1284G>A (p.Arg428=) c.1344G>A (p.Arg448=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18786012C>A | CA404884337 | COMP | c.1442G>T (p.Arg481Leu) c.1283G>T (p.Arg428Leu) c.1343G>T (p.Arg448Leu) | |
19 | g.18786012C= | CA2326525526 | COMP | c.1442G= (p.Arg481=) c.1283G= (p.Arg428=) c.1343G= (p.Arg448=) | |
19 | g.18786012C>G | CA404884340 | COMP | c.1442G>C (p.Arg481Pro) c.1283G>C (p.Arg428Pro) c.1343G>C (p.Arg448Pro) | gnomAD v4 |
19 | g.18786012C>T | CA9316421 | COMP | c.1442G>A (p.Arg481Gln) c.1283G>A (p.Arg428Gln) c.1343G>A (p.Arg448Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18786013G>A | CA9316422 | COMP | c.1441C>T (p.Arg481Trp) c.1282C>T (p.Arg428Trp) c.1342C>T (p.Arg448Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18786013G>C | CA404884351 | COMP | c.1441C>G (p.Arg481Gly) c.1282C>G (p.Arg428Gly) c.1342C>G (p.Arg448Gly) | gnomAD v4 |
19 | g.18786013G= | CA2326525527 | COMP | c.1441C= (p.Arg481=) c.1282C= (p.Arg428=) c.1342C= (p.Arg448=) | |
19 | g.18786013G>T | CA506117389 | COMP | c.1441C>A (p.Arg481=) c.1282C>A (p.Arg428=) c.1342C>A (p.Arg448=) | gnomAD v4 |
19 | g.18786014A>C | CA404884354 | COMP | c.1440T>G (p.Ser480Arg) c.1281T>G (p.Ser427Arg) c.1341T>G (p.Ser447Arg) | |
19 | g.18786014A>G | CA506117391 | COMP | c.1440T>C (p.Ser480=) c.1281T>C (p.Ser427=) c.1341T>C (p.Ser447=) | |
19 | g.18786014A>T | CA404884356 | COMP | c.1440T>A (p.Ser480Arg) c.1281T>A (p.Ser427Arg) c.1341T>A (p.Ser447Arg) | |
19 | g.18786015C>A | CA404884360 | COMP | c.1439G>T (p.Ser480Ile) c.1280G>T (p.Ser427Ile) c.1340G>T (p.Ser447Ile) | |
19 | g.18786015C>G | CA404884364 | COMP | c.1439G>C (p.Ser480Thr) c.1280G>C (p.Ser427Thr) c.1340G>C (p.Ser447Thr) | |
19 | g.18786015C>T | CA404884365 | COMP | c.1439G>A (p.Ser480Asn) c.1280G>A (p.Ser427Asn) c.1340G>A (p.Ser447Asn) | gnomAD v4 |
19 | g.18786016T>A | CA404884367 | COMP | c.1438A>T (p.Ser480Cys) c.1279A>T (p.Ser427Cys) c.1339A>T (p.Ser447Cys) | |
19 | g.18786016T>C | CA404884368 | COMP | c.1438A>G (p.Ser480Gly) c.1279A>G (p.Ser427Gly) c.1339A>G (p.Ser447Gly) | |
19 | g.18786016T>G | CA404884366 | COMP | c.1438A>C (p.Ser480Arg) c.1279A>C (p.Ser427Arg) c.1339A>C (p.Ser447Arg) | |
19 | g.18786017G>A | CA506117394 | COMP | c.1437C>T (p.Asp479=) c.1278C>T (p.Asp426=) c.1338C>T (p.Asp446=) | dbSNP |
19 | g.18786017G>C | CA404884371 | COMP | c.1437C>G (p.Asp479Glu) c.1278C>G (p.Asp426Glu) c.1338C>G (p.Asp446Glu) | |
19 | g.18786017G= | CA2326525528 | COMP | c.1437C= (p.Asp479=) c.1278C= (p.Asp426=) c.1338C= (p.Asp446=) | |
19 | g.18786017G>T | CA404884373 | COMP | c.1437C>A (p.Asp479Glu) c.1278C>A (p.Asp426Glu) c.1338C>A (p.Asp446Glu) | |
19 | g.18786021_18786032del | CA915940661 | COMP | c.1426_1437del (p.Gly476_Asp479del) c.1267_1278del (p.Gly423_Asp426del) c.1327_1338del (p.Gly443_Asp446del) | |
19 | g.18786018T>A | CA404884376 | COMP | c.1436A>T (p.Asp479Val) c.1277A>T (p.Asp426Val) c.1337A>T (p.Asp446Val) | ClinVar |
19 | g.18786018T>C | CA404884379 | COMP | c.1436A>G (p.Asp479Gly) c.1277A>G (p.Asp426Gly) c.1337A>G (p.Asp446Gly) | |
19 | g.18786018T>G | CA404884381 | COMP | c.1436A>C (p.Asp479Ala) c.1277A>C (p.Asp426Ala) c.1337A>C (p.Asp446Ala) | |
19 | g.18786019C>A | CA404884390 | COMP | c.1435G>T (p.Asp479Tyr) c.1276G>T (p.Asp426Tyr) c.1336G>T (p.Asp446Tyr) | |
19 | g.18786019C>G | CA404884385 | COMP | c.1435G>C (p.Asp479His) c.1276G>C (p.Asp426His) c.1336G>C (p.Asp446His) | ClinVar dbSNP |
19 | g.18786019C>T | CA404884387 | COMP | c.1435G>A (p.Asp479Asn) c.1276G>A (p.Asp426Asn) c.1336G>A (p.Asp446Asn) | |
19 | g.18786020A>C | CA506117400 | COMP | c.1434T>G (p.Pro478=) c.1275T>G (p.Pro425=) c.1335T>G (p.Pro445=) | gnomAD v4 |
19 | g.18786020A>G | CA506117401 | COMP | c.1434T>C (p.Pro478=) c.1275T>C (p.Pro425=) c.1335T>C (p.Pro445=) | |
19 | g.18786020A>T | CA506117403 | COMP | c.1434T>A (p.Pro478=) c.1275T>A (p.Pro425=) c.1335T>A (p.Pro445=) | |
19 | g.18786021G>A | CA404884394 | COMP | c.1433C>T (p.Pro478Leu) c.1274C>T (p.Pro425Leu) c.1334C>T (p.Pro445Leu) | |
19 | g.18786021G>C | CA404884396 | COMP | c.1433C>G (p.Pro478Arg) c.1274C>G (p.Pro425Arg) c.1334C>G (p.Pro445Arg) | |
19 | g.18786021G= | CA2326525529 | COMP | c.1433C= (p.Pro478=) c.1274C= (p.Pro425=) c.1334C= (p.Pro445=) | |
19 | g.18786021G>T | CA9316423 | COMP | c.1433C>A (p.Pro478His) c.1274C>A (p.Pro425His) c.1334C>A (p.Pro445His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18786022G>A | CA404884402 | COMP | c.1432C>T (p.Pro478Ser) c.1273C>T (p.Pro425Ser) c.1333C>T (p.Pro445Ser) | COSMIC |
19 | g.18786022G>C | CA404884406 | COMP | c.1432C>G (p.Pro478Ala) c.1273C>G (p.Pro425Ala) c.1333C>G (p.Pro445Ala) | |
19 | g.18786022G>T | CA404884408 | COMP | c.1432C>A (p.Pro478Thr) c.1273C>A (p.Pro425Thr) c.1333C>A (p.Pro445Thr) | |
19 | g.18786023G>A | CA506117410 | COMP | c.1431C>T (p.Val477=) c.1272C>T (p.Val424=) c.1332C>T (p.Val444=) | |
19 | g.18786023G>C | CA506117411 | COMP | c.1431C>G (p.Val477=) c.1272C>G (p.Val424=) c.1332C>G (p.Val444=) | |
19 | g.18786023G= | CA2326525530 | COMP | c.1431C= (p.Val477=) c.1272C= (p.Val424=) c.1332C= (p.Val444=) | |
19 | g.18786023G>T | CA506117412 | COMP | c.1431C>A (p.Val477=) c.1272C>A (p.Val424=) c.1332C>A (p.Val444=) | dbSNP gnomAD v4 |
19 | g.18786024A= | CA2326525531 | COMP | c.1430T= (p.Val477=) c.1271T= (p.Val424=) c.1331T= (p.Val444=) | |
19 | g.18786024A>C | CA404884411 | COMP | c.1430T>G (p.Val477Gly) c.1271T>G (p.Val424Gly) c.1331T>G (p.Val444Gly) | |
19 | g.18786024A>G | CA404884412 | COMP | c.1430T>C (p.Val477Ala) c.1271T>C (p.Val424Ala) c.1331T>C (p.Val444Ala) | dbSNP |
19 | g.18786024A>T | CA404884410 | COMP | c.1430T>A (p.Val477Asp) c.1271T>A (p.Val424Asp) c.1331T>A (p.Val444Asp) | |
19 | g.18786025C>A | CA404884414 | COMP | c.1429G>T (p.Val477Phe) c.1270G>T (p.Val424Phe) c.1330G>T (p.Val444Phe) | |
19 | g.18786025C= | CA2326525532 | COMP | c.1429G= (p.Val477=) c.1270G= (p.Val424=) c.1330G= (p.Val444=) | |
19 | g.18786025C>G | CA404884415 | COMP | c.1429G>C (p.Val477Leu) c.1270G>C (p.Val424Leu) c.1330G>C (p.Val444Leu) | |
19 | g.18786025C>T | CA404884418 | COMP | c.1429G>A (p.Val477Ile) c.1270G>A (p.Val424Ile) c.1330G>A (p.Val444Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18786026T>A | CA506117417 | COMP | c.1428A>T (p.Gly476=) c.1269A>T (p.Gly423=) c.1329A>T (p.Gly443=) | |
19 | g.18786026T>C | CA506117418 | COMP | c.1428A>G (p.Gly476=) c.1269A>G (p.Gly423=) c.1329A>G (p.Gly443=) | |
19 | g.18786026T>G | CA506117419 | COMP | c.1428A>C (p.Gly476=) c.1269A>C (p.Gly423=) c.1329A>C (p.Gly443=) | gnomAD v4 |
19 | g.18786027C>A | CA404884421 | COMP | c.1427G>T (p.Gly476Val) c.1268G>T (p.Gly423Val) c.1328G>T (p.Gly443Val) | gnomAD v4 |
19 | g.18786027C>G | CA404884424 | COMP | c.1427G>C (p.Gly476Ala) c.1268G>C (p.Gly423Ala) c.1328G>C (p.Gly443Ala) | |
19 | g.18786027C>T | CA404884427 | COMP | c.1427G>A (p.Gly476Glu) c.1268G>A (p.Gly423Glu) c.1328G>A (p.Gly443Glu) | |
19 | g.18786028C>A | CA404884430 | COMP | c.1426G>T (p.Gly476Ter) c.1267G>T (p.Gly423Ter) c.1327G>T (p.Gly443Ter) | |
19 | g.18786028C= | CA2326525533 | COMP | c.1426G= (p.Gly476=) c.1267G= (p.Gly423=) c.1327G= (p.Gly443=) | |
19 | g.18786028C>G | CA404884432 | COMP | c.1426G>C (p.Gly476Arg) c.1267G>C (p.Gly423Arg) c.1327G>C (p.Gly443Arg) | |
19 | g.18786028C>T | CA404884435 | COMP | c.1426G>A (p.Gly476Arg) c.1267G>A (p.Gly423Arg) c.1327G>A (p.Gly443Arg) | dbSNP gnomAD v2 |
19 | g.18786029G>A | CA506117421 | COMP | c.1425C>T (p.Asp475=) c.1266C>T (p.Asp422=) c.1326C>T (p.Asp442=) | dbSNP |
19 | g.18786029G>C | CA404884436 | COMP | c.1425C>G (p.Asp475Glu) c.1266C>G (p.Asp422Glu) c.1326C>G (p.Asp442Glu) | |
19 | g.18786029G= | CA2326525534 | COMP | c.1425C= (p.Asp475=) c.1266C= (p.Asp422=) c.1326C= (p.Asp442=) | |
19 | g.18786029G>T | CA404884437 | COMP | c.1425C>A (p.Asp475Glu) c.1266C>A (p.Asp422Glu) c.1326C>A (p.Asp442Glu) | gnomAD v4 |
19 | g.18786032_18786037dup | CA2695228427 | COMP | c.1420_1425dup (p.Asp475_Gly476insAsnAsp) c.1261_1266dup (p.Asp422_Gly423insAsnAsp) c.1321_1326dup (p.Asp442_Gly443insAsnAsp) | ClinVar |
19 | g.18786030T>A | CA404884442 | COMP | c.1424A>T (p.Asp475Val) c.1265A>T (p.Asp422Val) c.1325A>T (p.Asp442Val) | COSMIC |
19 | g.18786030T>C | CA404884441 | COMP | c.1424A>G (p.Asp475Gly) c.1265A>G (p.Asp422Gly) c.1325A>G (p.Asp442Gly) | |
19 | g.18786030T>G | CA404884439 | COMP | c.1424A>C (p.Asp475Ala) c.1265A>C (p.Asp422Ala) c.1325A>C (p.Asp442Ala) |