Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.6870590G>A | CA2686022886 | DEFB1 | c.*91C>T (n.*91C>T) | gnomAD v4 |
8 | g.6870590G>C | CA2686022887 | DEFB1 | c.*91C>G (n.*91C>G) | gnomAD v4 |
8 | g.6870590G= | CA1761183401 | DEFB1 | c.*91C= (n.*91C=) | |
8 | g.6870590G>T | CA171472788 | DEFB1 | c.*91C>A (n.*91C>A) | dbSNP gnomAD v4 |
8 | g.6870591G>A | CA171472806 | DEFB1 | c.*90C>T (n.*90C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.6870591G= | CA1761183402 | DEFB1 | c.*90C= (n.*90C=) | |
8 | g.6870591G>T | CA2591890011 | DEFB1 | c.*90C>A (n.*90C>A) | gnomAD v3 gnomAD v4 |
8 | g.6870592T>C | CA1761183404 | DEFB1 | c.*89A>G (n.*89A>G) | dbSNP gnomAD v4 |
8 | g.6870592T= | CA1761183403 | DEFB1 | c.*89A= (n.*89A=) | |
8 | g.6870594_6870595dup | CA2591890012 | DEFB1 | c.*88_*89dup (n.*88_*89dup) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.6870593A>T | CA2579088504 | DEFB1 | c.*88T>A (n.*88T>A) | |
8 | g.6870594T>A | CA2580794836 | DEFB1 | c.*87A>T (n.*87A>T) | |
8 | g.6870594T>C | CA171472814 | DEFB1 | c.*87A>G (n.*87A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.6870594T>G | CA2580794835 | DEFB1 | c.*87A>C (n.*87A>C) | |
8 | g.6870594T= | CA1761183405 | DEFB1 | c.*87A= (n.*87A=) | |
8 | g.6870595A= | CA1761183406 | DEFB1 | c.*86T= (n.*86T=) | |
8 | g.6870595A>G | CA1110228351 | DEFB1 | c.*86T>C (n.*86T>C) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.6870596C>A | CA2686022888 | DEFB1 | c.*85G>T (n.*85G>T) | gnomAD v4 |
8 | g.6870596C= | CA1761183407 | DEFB1 | c.*85G= (n.*85G=) | |
8 | g.6870596C>G | CA2686022889 | DEFB1 | c.*85G>C (n.*85G>C) | gnomAD v4 |
8 | g.6870596C>T | CA854600453 | DEFB1 | c.*85G>A (n.*85G>A) | dbSNP |
8 | g.6870596_6870597insGTAAACCCATCCGCC | CA2570806724 | DEFB1 | c.*85_*86insGCGGATGGGTTTACG (n.*85_*86insGCGGATGGGTTTACG) | |
8 | g.6870598_6870599insTGCCAGCACATCCGAGGCCGTTGCCGCGCCGCTCCGTGCGATCTCCTCTGCTGTAATGGTGGTCGTCGCAGCCGGCACATCGACATCACGCTTCGTCGTCCGCGTCGCTGTGA | CA2513012573 | DEFB1 | c.*82_*83insTCACAGCGACGCGGACGACGAAGCGTGATGTCGATGTGCCGGCTGCGACGACCACCATTACAGCAGAGGAGATCGCACGGAGCGGCGCGGCAACGGCCTCGGATGTGCTGGCA (n.*82_*83insTCACAGCGACGCGGACGACGAAGCGTGATGTCGATGTGCCGGCTGCGACGACCACCATTACAGCAGAGGAGATCGCACGGAGCGGCGCGGCAACGGCCTCGGATGTGCTGGCA) | |
8 | g.6870599C>A | CA2686022890 | DEFB1 | c.*82G>T (n.*82G>T) | gnomAD v4 |
8 | g.6870599C= | CA1761183409 | DEFB1 | c.*82G= (n.*82G=) | |
8 | g.6870599C>G | CA2579088505 | DEFB1 | c.*82G>C (n.*82G>C) | gnomAD v4 |
8 | g.6870599C>T | CA1110228354 | DEFB1 | c.*82G>A (n.*82G>A) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.6870599_6870600delinsCA | CA1761183408 | DEFB1 | c.*81_*82delinsTG (n.*81_*82delinsTG) | |
8 | g.6870600A= | CA1761183410 | DEFB1 | c.*81T= (n.*81T=) | |
8 | g.6870600A>T | CA854600458 | DEFB1 | c.*81T>A (n.*81T>A) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.6870603del | CA854600460 | DEFB1 | c.*81del (n.*81del) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.6870601A= | CA1761183411 | DEFB1 | c.*80T= (n.*80T=) | |
8 | g.6870601A>G | CA854600463 | DEFB1 | c.*80T>C (n.*80T>C) | dbSNP |
8 | g.6870602A= | CA1761183413 | DEFB1 | c.*79T= (n.*79T=) | |
8 | g.6870602A>C | CA1761183412 | DEFB1 | c.*79T>G (n.*79T>G) | dbSNP gnomAD v4 |
8 | g.6870602A>G | CA2686022891 | DEFB1 | c.*79T>C (n.*79T>C) | gnomAD v4 |
8 | g.6870603A= | CA1761183414 | DEFB1 | c.*78T= (n.*78T=) | |
8 | g.6870603A>T | CA171472828 | DEFB1 | c.*78T>A (n.*78T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.6870604G>A | CA171472836 | DEFB1 | c.*77C>T (n.*77C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.6870604G>C | CA2579088506 | DEFB1 | c.*77C>G (n.*77C>G) | |
8 | g.6870604G= | CA1761183415 | DEFB1 | c.*77C= (n.*77C=) | |
8 | g.6870604G>T | CA2686022892 | DEFB1 | c.*77C>A (n.*77C>A) | gnomAD v4 |
8 | g.6870605C>A | CA2686022893 | DEFB1 | c.*76G>T (n.*76G>T) | gnomAD v4 |
8 | g.6870606A>C | CA2686022894 | DEFB1 | c.*75T>G (n.*75T>G) | gnomAD v4 |
8 | g.6870607A= | CA1761183416 | DEFB1 | c.*74T= (n.*74T=) | |
8 | g.6870607A>G | CA1110228370 | DEFB1 | c.*74T>C (n.*74T>C) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.6870607A>T | CA2686022895 | DEFB1 | c.*74T>A (n.*74T>A) | gnomAD v4 |
8 | g.6870608T>C | CA2686022897 | DEFB1 | c.*73A>G (n.*73A>G) | gnomAD v4 |
8 | g.6870608T>G | CA1110228380 | DEFB1 | c.*73A>C (n.*73A>C) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.6870608T= | CA1761183417 | DEFB1 | c.*73A= (n.*73A=) |