Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.56863765_56872392del | CA1139664706 | ClinVar | ||
16 | g.56869935C>A | CA2633370570 | SLC12A3 | c.601+111C>A (n.601+111C>A) c.598+111C>A (n.598+111C>A) | gnomAD v4 |
16 | g.56869935C= | CA2224349178 | SLC12A3 | c.601+111C= (n.601+111C=) c.598+111C= (n.598+111C=) | |
16 | g.56869935C>T | CA281496719 | SLC12A3 | c.601+111C>T (n.601+111C>T) c.598+111C>T (n.598+111C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56869936G>A | CA622333591 | SLC12A3 | c.601+112G>A (n.601+112G>A) c.598+112G>A (n.598+112G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56869936G>C | CA2633370578 | SLC12A3 | c.601+112G>C (n.601+112G>C) c.598+112G>C (n.598+112G>C) | gnomAD v4 |
16 | g.56869936G= | CA2224349179 | SLC12A3 | c.601+112G= (n.601+112G=) c.598+112G= (n.598+112G=) | |
16 | g.56869936G>T | CA2633370579 | SLC12A3 | c.601+112G>T (n.601+112G>T) c.598+112G>T (n.598+112G>T) | gnomAD v4 |
16 | g.56869938del | CA2633370574 | SLC12A3 | c.601+114del (n.601+114del) c.598+114del (n.598+114del) | gnomAD v4 |
16 | g.56869937G>C | CA2633370582 | SLC12A3 | c.601+113G>C (n.601+113G>C) c.598+113G>C (n.598+113G>C) | gnomAD v4 |
16 | g.56869937G>T | CA2633370583 | SLC12A3 | c.601+113G>T (n.601+113G>T) c.598+113G>T (n.598+113G>T) | gnomAD v4 |
16 | g.56869937_56869939delinsGGA | CA2224349180 | SLC12A3 | c.601+113_601+115delinsGGA (n.601+113_601+115delinsGGA) c.598+113_598+115delinsGGA (n.598+113_598+115delinsGGA) | |
16 | g.56869941_56869942del | CA2224349181 | SLC12A3 | c.601+117_601+118del (n.601+117_601+118del) c.598+117_598+118del (n.598+117_598+118del) | dbSNP |
16 | g.56869939A= | CA2224349182 | SLC12A3 | c.601+115A= (n.601+115A=) c.598+115A= (n.598+115A=) | |
16 | g.56869939A>G | CA722004839 | SLC12A3 | c.601+115A>G (n.601+115A>G) c.598+115A>G (n.598+115A>G) | dbSNP |
16 | g.56869940G>A | CA2224349184 | SLC12A3 | c.601+116G>A (n.601+116G>A) c.598+116G>A (n.598+116G>A) | dbSNP |
16 | g.56869940G= | CA2224349183 | SLC12A3 | c.601+116G= (n.601+116G=) c.598+116G= (n.598+116G=) | |
16 | g.56869942G>A | CA2633370585 | SLC12A3 | c.601+118G>A (n.601+118G>A) c.598+118G>A (n.598+118G>A) | gnomAD v4 |
16 | g.56869943G>A | CA2633370589 | SLC12A3 | c.601+119G>A (n.601+119G>A) c.598+119G>A (n.598+119G>A) | gnomAD v4 |
16 | g.56869946_56869976del | CA2633370587 | SLC12A3 | c.601+122_602-120del (n.601+122_602-120del) c.598+122_599-120del (n.598+122_599-120del) | gnomAD v4 |
16 | g.56869944G>A | CA2633370591 | SLC12A3 | c.601+120G>A (n.601+120G>A) c.598+120G>A (n.598+120G>A) | gnomAD v4 |
16 | g.56869944G= | CA2224349185 | SLC12A3 | c.601+120G= (n.601+120G=) c.598+120G= (n.598+120G=) | |
16 | g.56869944G>T | CA2633370593 | SLC12A3 | c.601+120G>T (n.601+120G>T) c.598+120G>T (n.598+120G>T) | gnomAD v4 |
16 | g.56869945C>A | CA2633370596 | SLC12A3 | c.601+121C>A (n.601+121C>A) c.598+121C>A (n.598+121C>A) | gnomAD v4 |
16 | g.56869945C= | CA2224349187 | SLC12A3 | c.601+121C= (n.601+121C=) c.598+121C= (n.598+121C=) | |
16 | g.56869945C>T | CA977638003 | SLC12A3 | c.601+121C>T (n.601+121C>T) c.598+121C>T (n.598+121C>T) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56869947_56869948dup | CA2224349186 | SLC12A3 | c.601+123_601+124dup (n.601+123_601+124dup) c.598+123_598+124dup (n.598+123_598+124dup) | dbSNP |
16 | g.56869947C>A | CA2633370603 | SLC12A3 | c.601+123C>A (n.601+123C>A) c.598+123C>A (n.598+123C>A) | gnomAD v4 |
16 | g.56869947C= | CA2224349188 | SLC12A3 | c.601+123C= (n.601+123C=) c.598+123C= (n.598+123C=) | |
16 | g.56869947C>T | CA2224349189 | SLC12A3 | c.601+123C>T (n.601+123C>T) c.598+123C>T (n.598+123C>T) | dbSNP gnomAD v4 |
16 | g.56869948del | CA2633370605 | SLC12A3 | c.601+124del (n.601+124del) c.598+124del (n.598+124del) | gnomAD v4 |
16 | g.56869948T>C | CA2633370606 | SLC12A3 | c.601+124T>C (n.601+124T>C) c.598+124T>C (n.598+124T>C) | gnomAD v4 |
16 | g.56869949A= | CA2224349191 | SLC12A3 | c.601+125A= (n.601+125A=) c.598+125A= (n.598+125A=) | |
16 | g.56869949A>C | CA2224349190 | SLC12A3 | c.601+125A>C (n.601+125A>C) c.598+125A>C (n.598+125A>C) | dbSNP gnomAD v4 |
16 | g.56869949A>G | CA2633370607 | SLC12A3 | c.601+125A>G (n.601+125A>G) c.598+125A>G (n.598+125A>G) | gnomAD v4 |
16 | g.56869949A>T | CA2633370608 | SLC12A3 | c.601+125A>T (n.601+125A>T) c.598+125A>T (n.598+125A>T) | gnomAD v4 |
16 | g.56869951G>T | CA2633370609 | SLC12A3 | c.601+127G>T (n.601+127G>T) c.598+127G>T (n.598+127G>T) | gnomAD v4 |
16 | g.56869952C>A | CA2633370612 | SLC12A3 | c.601+128C>A (n.601+128C>A) c.598+128C>A (n.598+128C>A) | gnomAD v4 |
16 | g.56869952C= | CA2224349192 | SLC12A3 | c.601+128C= (n.601+128C=) c.598+128C= (n.598+128C=) | |
16 | g.56869952C>G | CA2633370613 | SLC12A3 | c.601+128C>G (n.601+128C>G) c.598+128C>G (n.598+128C>G) | gnomAD v4 |
16 | g.56869952C>T | CA2224349193 | SLC12A3 | c.601+128C>T (n.601+128C>T) c.598+128C>T (n.598+128C>T) | dbSNP gnomAD v4 |
16 | g.56869953A>G | CA2633370614 | SLC12A3 | c.601+129A>G (n.601+129A>G) c.598+129A>G (n.598+129A>G) | gnomAD v4 |
16 | g.56869954G>A | CA722004841 | SLC12A3 | c.601+130G>A (n.601+130G>A) c.598+130G>A (n.598+130G>A) | dbSNP gnomAD v4 |
16 | g.56869954G= | CA2224349194 | SLC12A3 | c.601+130G= (n.601+130G=) c.598+130G= (n.598+130G=) | |
16 | g.56869955G>A | CA2633370617 | SLC12A3 | c.601+131G>A (n.601+131G>A) c.598+131G>A (n.598+131G>A) | gnomAD v4 |
16 | g.56869955G>C | CA2224349196 | SLC12A3 | c.601+131G>C (n.601+131G>C) c.598+131G>C (n.598+131G>C) | dbSNP |
16 | g.56869955G= | CA2224349195 | SLC12A3 | c.601+131G= (n.601+131G=) c.598+131G= (n.598+131G=) | |
16 | g.56869955G>T | CA2224349197 | SLC12A3 | c.601+131G>T (n.601+131G>T) c.598+131G>T (n.598+131G>T) | dbSNP gnomAD v4 |
16 | g.56869956C>A | CA2633370619 | SLC12A3 | c.601+132C>A (n.601+132C>A) c.598+132C>A (n.598+132C>A) | gnomAD v4 |
16 | g.56869956C>T | CA2633370620 | SLC12A3 | c.601+132C>T (n.601+132C>T) c.598+132C>T (n.598+132C>T) | gnomAD v4 |