Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.56902494_56902517del | CA2633375672 | SLC12A3 | c.2842_2856+9del c.2839_2853+9del c.2869_2883+9del c.2866_2880+9del n.273_287+9del | gnomAD v4 |
16 | g.56902510_56902515del | CA977655771 | SLC12A3 | c.2856+2_2856+7del (n.2856+2_2856+7del) c.2853+2_2853+7del (n.2853+2_2853+7del) c.2883+2_2883+7del (n.2883+2_2883+7del) c.2880+2_2880+7del (n.2880+2_2880+7del) n.287+2_287+7del | gnomAD v3 gnomAD v4 |
16 | g.56902511_56902513delinsGCA | CA2224364856 | SLC12A3 | c.2856+3_2856+5delinsGCA (n.2856+3_2856+5delinsGCA) c.2853+3_2853+5delinsGCA (n.2853+3_2853+5delinsGCA) c.2883+3_2883+5delinsGCA (n.2883+3_2883+5delinsGCA) c.2880+3_2880+5delinsGCA (n.2880+3_2880+5delinsGCA) n.287+3_287+5delinsGCA | |
16 | g.56902512_56902513del | CA622341852 | SLC12A3 | c.2856+4_2856+5del (n.2856+4_2856+5del) c.2853+4_2853+5del (n.2853+4_2853+5del) c.2883+4_2883+5del (n.2883+4_2883+5del) c.2880+4_2880+5del (n.2880+4_2880+5del) n.287+4_287+5del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56902512_56902515del | CA2633375690 | SLC12A3 | c.2856+4_2856+7del (n.2856+4_2856+7del) c.2853+4_2853+7del (n.2853+4_2853+7del) c.2883+4_2883+7del (n.2883+4_2883+7del) c.2880+4_2880+7del (n.2880+4_2880+7del) n.287+4_287+7del | gnomAD v4 |
16 | g.56902512_56902517del | CA2633375689 | SLC12A3 | c.2856+4_2856+9del (n.2856+4_2856+9del) c.2853+4_2853+9del (n.2853+4_2853+9del) c.2883+4_2883+9del (n.2883+4_2883+9del) c.2880+4_2880+9del (n.2880+4_2880+9del) n.287+4_287+9del | gnomAD v4 |
16 | g.56902513del | CA622341860 | SLC12A3 | c.2856+5del (n.2856+5del) c.2853+5del (n.2853+5del) c.2883+5del (n.2883+5del) c.2880+5del (n.2880+5del) n.287+5del | gnomAD v2 gnomAD v4 |
16 | g.56902513A= | CA2224364859 | SLC12A3 | c.2856+5A= (n.2856+5A=) c.2853+5A= (n.2853+5A=) c.2883+5A= (n.2883+5A=) c.2880+5A= (n.2880+5A=) n.287+5A= | |
16 | g.56902513A>C | CA721949580 | SLC12A3 | c.2856+5A>C (n.2856+5A>C) c.2853+5A>C (n.2853+5A>C) c.2883+5A>C (n.2883+5A>C) c.2880+5A>C (n.2880+5A>C) n.287+5A>C | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56902513A>G | CA622341861 | SLC12A3 | c.2856+5A>G (n.2856+5A>G) c.2853+5A>G (n.2853+5A>G) c.2883+5A>G (n.2883+5A>G) c.2880+5A>G (n.2880+5A>G) n.287+5A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56902513A>T | CA977655780 | SLC12A3 | c.2856+5A>T (n.2856+5A>T) c.2853+5A>T (n.2853+5A>T) c.2883+5A>T (n.2883+5A>T) c.2880+5A>T (n.2880+5A>T) n.287+5A>T | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56902514G>A | CA622341865 | SLC12A3 | c.2856+6G>A (n.2856+6G>A) c.2853+6G>A (n.2853+6G>A) c.2883+6G>A (n.2883+6G>A) c.2880+6G>A (n.2880+6G>A) n.287+6G>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56902514G= | CA2224364860 | SLC12A3 | c.2856+6G= (n.2856+6G=) c.2853+6G= (n.2853+6G=) c.2883+6G= (n.2883+6G=) c.2880+6G= (n.2880+6G=) n.287+6G= | |
16 | g.56902514G>T | CA2633375696 | SLC12A3 | c.2856+6G>T (n.2856+6G>T) c.2853+6G>T (n.2853+6G>T) c.2883+6G>T (n.2883+6G>T) c.2880+6G>T (n.2880+6G>T) n.287+6G>T | gnomAD v4 |
16 | g.56902514_56902515insGG | CA977655792 | SLC12A3 | c.2856+6_2856+7insGG (n.2856+6_2856+7insGG) c.2853+6_2853+7insGG (n.2853+6_2853+7insGG) c.2883+6_2883+7insGG (n.2883+6_2883+7insGG) c.2880+6_2880+7insGG (n.2880+6_2880+7insGG) n.287+6_287+7insGG | gnomAD v3 gnomAD v4 |
16 | g.56902514_56902515insGGGG | CA2633375697 | SLC12A3 | c.2856+6_2856+7insGGGG (n.2856+6_2856+7insGGGG) c.2853+6_2853+7insGGGG (n.2853+6_2853+7insGGGG) c.2883+6_2883+7insGGGG (n.2883+6_2883+7insGGGG) c.2880+6_2880+7insGGGG (n.2880+6_2880+7insGGGG) n.287+6_287+7insGGGG | gnomAD v4 |
16 | g.56902514_56902515insGGGGG | CA977655790 | SLC12A3 | c.2856+6_2856+7insGGGGG (n.2856+6_2856+7insGGGGG) c.2853+6_2853+7insGGGGG (n.2853+6_2853+7insGGGGG) c.2883+6_2883+7insGGGGG (n.2883+6_2883+7insGGGGG) c.2880+6_2880+7insGGGGG (n.2880+6_2880+7insGGGGG) n.287+6_287+7insGGGGG | gnomAD v3 gnomAD v4 |
16 | g.56902514_56902515insGGGGGG | CA622341864 | SLC12A3 | c.2856+6_2856+7insGGGGGG (n.2856+6_2856+7insGGGGGG) c.2853+6_2853+7insGGGGGG (n.2853+6_2853+7insGGGGGG) c.2883+6_2883+7insGGGGGG (n.2883+6_2883+7insGGGGGG) c.2880+6_2880+7insGGGGGG (n.2880+6_2880+7insGGGGGG) n.287+6_287+7insGGGGGG | gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56902514_56902515insGGGGGGG | CA977655788 | SLC12A3 | c.2856+6_2856+7insGGGGGGG (n.2856+6_2856+7insGGGGGGG) c.2853+6_2853+7insGGGGGGG (n.2853+6_2853+7insGGGGGGG) c.2883+6_2883+7insGGGGGGG (n.2883+6_2883+7insGGGGGGG) c.2880+6_2880+7insGGGGGGG (n.2880+6_2880+7insGGGGGGG) n.287+6_287+7insGGGGGGG | gnomAD v3 gnomAD v4 |
16 | g.56902514_56902515insGGGGGGGG | CA977655786 | SLC12A3 | c.2856+6_2856+7insGGGGGGGG (n.2856+6_2856+7insGGGGGGGG) c.2853+6_2853+7insGGGGGGGG (n.2853+6_2853+7insGGGGGGGG) c.2883+6_2883+7insGGGGGGGG (n.2883+6_2883+7insGGGGGGGG) c.2880+6_2880+7insGGGGGGGG (n.2880+6_2880+7insGGGGGGGG) n.287+6_287+7insGGGGGGGG | |
16 | g.56902514_56902515insGGGGGGGGGG | CA2633375698 | SLC12A3 | c.2856+6_2856+7insGGGGGGGGGG (n.2856+6_2856+7insGGGGGGGGGG) c.2853+6_2853+7insGGGGGGGGGG (n.2853+6_2853+7insGGGGGGGGGG) c.2883+6_2883+7insGGGGGGGGGG (n.2883+6_2883+7insGGGGGGGGGG) c.2880+6_2880+7insGGGGGGGGGG (n.2880+6_2880+7insGGGGGGGGGG) n.287+6_287+7insGGGGGGGGGG | gnomAD v4 |
16 | g.56902515del | CA2633375703 | SLC12A3 | c.2856+7del (n.2856+7del) c.2853+7del (n.2853+7del) c.2883+7del (n.2883+7del) c.2880+7del (n.2880+7del) n.287+7del | gnomAD v4 |
16 | g.56902515A= | CA2224364861 | SLC12A3 | c.2856+7A= (n.2856+7A=) c.2853+7A= (n.2853+7A=) c.2883+7A= (n.2883+7A=) c.2880+7A= (n.2880+7A=) n.287+7A= | |
16 | g.56902515A>C | CA2633375702 | SLC12A3 | c.2856+7A>C (n.2856+7A>C) c.2853+7A>C (n.2853+7A>C) c.2883+7A>C (n.2883+7A>C) c.2880+7A>C (n.2880+7A>C) n.287+7A>C | gnomAD v4 |
16 | g.56902515A>G | CA622341867 | SLC12A3 | c.2856+7A>G (n.2856+7A>G) c.2853+7A>G (n.2853+7A>G) c.2883+7A>G (n.2883+7A>G) c.2880+7A>G (n.2880+7A>G) n.287+7A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56902515A>T | CA977655797 | SLC12A3 | c.2856+7A>T (n.2856+7A>T) c.2853+7A>T (n.2853+7A>T) c.2883+7A>T (n.2883+7A>T) c.2880+7A>T (n.2880+7A>T) n.287+7A>T | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56902515_56902517del | CA2633375704 | SLC12A3 | c.2856+7_2856+9del (n.2856+7_2856+9del) c.2853+7_2853+9del (n.2853+7_2853+9del) c.2883+7_2883+9del (n.2883+7_2883+9del) c.2880+7_2880+9del (n.2880+7_2880+9del) n.287+7_287+9del | gnomAD v4 |
16 | g.56902515_56902516insAGG | CA2633375715 | SLC12A3 | c.2856+7_2856+8insAGG (n.2856+7_2856+8insAGG) c.2853+7_2853+8insAGG (n.2853+7_2853+8insAGG) c.2883+7_2883+8insAGG (n.2883+7_2883+8insAGG) c.2880+7_2880+8insAGG (n.2880+7_2880+8insAGG) n.287+7_287+8insAGG | gnomAD v4 |
16 | g.56902515_56902516insCAGGG | CA2633375708 | SLC12A3 | c.2856+7_2856+8insCAGGG (n.2856+7_2856+8insCAGGG) c.2853+7_2853+8insCAGGG (n.2853+7_2853+8insCAGGG) c.2883+7_2883+8insCAGGG (n.2883+7_2883+8insCAGGG) c.2880+7_2880+8insCAGGG (n.2880+7_2880+8insCAGGG) n.287+7_287+8insCAGGG | gnomAD v4 |
16 | g.56902515_56902516insAGGGGGG | CA2633375710 | SLC12A3 | c.2856+7_2856+8insAGGGGGG (n.2856+7_2856+8insAGGGGGG) c.2853+7_2853+8insAGGGGGG (n.2853+7_2853+8insAGGGGGG) c.2883+7_2883+8insAGGGGGG (n.2883+7_2883+8insAGGGGGG) c.2880+7_2880+8insAGGGGGG (n.2880+7_2880+8insAGGGGGG) n.287+7_287+8insAGGGGGG | gnomAD v4 |
16 | g.56902516G>T | CA2633375711 | SLC12A3 | c.2856+8G>T (n.2856+8G>T) c.2853+8G>T (n.2853+8G>T) c.2883+8G>T (n.2883+8G>T) c.2880+8G>T (n.2880+8G>T) n.287+8G>T | gnomAD v4 |
16 | g.56902516_56902517insGG | CA622341874 | SLC12A3 | c.2856+8_2856+9insGG (n.2856+8_2856+9insGG) c.2853+8_2853+9insGG (n.2853+8_2853+9insGG) c.2883+8_2883+9insGG (n.2883+8_2883+9insGG) c.2880+8_2880+9insGG (n.2880+8_2880+9insGG) n.287+8_287+9insGG | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56902516_56902517insGGG | CA2633375726 | SLC12A3 | c.2856+8_2856+9insGGG (n.2856+8_2856+9insGGG) c.2853+8_2853+9insGGG (n.2853+8_2853+9insGGG) c.2883+8_2883+9insGGG (n.2883+8_2883+9insGGG) c.2880+8_2880+9insGGG (n.2880+8_2880+9insGGG) n.287+8_287+9insGGG | gnomAD v4 |
16 | g.56902516_56902517insGGGG | CA622341877 | SLC12A3 | c.2856+8_2856+9insGGGG (n.2856+8_2856+9insGGGG) c.2853+8_2853+9insGGGG (n.2853+8_2853+9insGGGG) c.2883+8_2883+9insGGGG (n.2883+8_2883+9insGGGG) c.2880+8_2880+9insGGGG (n.2880+8_2880+9insGGGG) n.287+8_287+9insGGGG | gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56902516_56902517insCGGGG | CA2633375723 | SLC12A3 | c.2856+8_2856+9insCGGGG (n.2856+8_2856+9insCGGGG) c.2853+8_2853+9insCGGGG (n.2853+8_2853+9insCGGGG) c.2883+8_2883+9insCGGGG (n.2883+8_2883+9insCGGGG) c.2880+8_2880+9insCGGGG (n.2880+8_2880+9insCGGGG) n.287+8_287+9insCGGGG | gnomAD v4 |
16 | g.56902516_56902517insGGGGG | CA2633375728 | SLC12A3 | c.2856+8_2856+9insGGGGG (n.2856+8_2856+9insGGGGG) c.2853+8_2853+9insGGGGG (n.2853+8_2853+9insGGGGG) c.2883+8_2883+9insGGGGG (n.2883+8_2883+9insGGGGG) c.2880+8_2880+9insGGGGG (n.2880+8_2880+9insGGGGG) n.287+8_287+9insGGGGG | gnomAD v4 |
16 | g.56902516_56902517insCGGGGG | CA2633375725 | SLC12A3 | c.2856+8_2856+9insCGGGGG (n.2856+8_2856+9insCGGGGG) c.2853+8_2853+9insCGGGGG (n.2853+8_2853+9insCGGGGG) c.2883+8_2883+9insCGGGGG (n.2883+8_2883+9insCGGGGG) c.2880+8_2880+9insCGGGGG (n.2880+8_2880+9insCGGGGG) n.287+8_287+9insCGGGGG | gnomAD v4 |
16 | g.56902516_56902517insGGGGGG | CA622341869 | SLC12A3 | c.2856+8_2856+9insGGGGGG (n.2856+8_2856+9insGGGGGG) c.2853+8_2853+9insGGGGGG (n.2853+8_2853+9insGGGGGG) c.2883+8_2883+9insGGGGGG (n.2883+8_2883+9insGGGGGG) c.2880+8_2880+9insGGGGGG (n.2880+8_2880+9insGGGGGG) n.287+8_287+9insGGGGGG | gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56902516_56902517insGGGGGGG | CA2633375722 | SLC12A3 | c.2856+8_2856+9insGGGGGGG (n.2856+8_2856+9insGGGGGGG) c.2853+8_2853+9insGGGGGGG (n.2853+8_2853+9insGGGGGGG) c.2883+8_2883+9insGGGGGGG (n.2883+8_2883+9insGGGGGGG) c.2880+8_2880+9insGGGGGGG (n.2880+8_2880+9insGGGGGGG) n.287+8_287+9insGGGGGGG | gnomAD v4 |
16 | g.56902516_56902517insGGGGGGGG | CA622341871 | SLC12A3 | c.2856+8_2856+9insGGGGGGGG (n.2856+8_2856+9insGGGGGGGG) c.2853+8_2853+9insGGGGGGGG (n.2853+8_2853+9insGGGGGGGG) c.2883+8_2883+9insGGGGGGGG (n.2883+8_2883+9insGGGGGGGG) c.2880+8_2880+9insGGGGGGGG (n.2880+8_2880+9insGGGGGGGG) n.287+8_287+9insGGGGGGGG | gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56902516_56902517insGGGGGGGGG | CA622341868 | SLC12A3 | c.2856+8_2856+9insGGGGGGGGG (n.2856+8_2856+9insGGGGGGGGG) c.2853+8_2853+9insGGGGGGGGG (n.2853+8_2853+9insGGGGGGGGG) c.2883+8_2883+9insGGGGGGGGG (n.2883+8_2883+9insGGGGGGGGG) c.2880+8_2880+9insGGGGGGGGG (n.2880+8_2880+9insGGGGGGGGG) n.287+8_287+9insGGGGGGGGG | gnomAD v2 gnomAD v4 |
16 | g.56902516_56902517insGGGGGGGGGG | CA2633375720 | SLC12A3 | c.2856+8_2856+9insGGGGGGGGGG (n.2856+8_2856+9insGGGGGGGGGG) c.2853+8_2853+9insGGGGGGGGGG (n.2853+8_2853+9insGGGGGGGGGG) c.2883+8_2883+9insGGGGGGGGGG (n.2883+8_2883+9insGGGGGGGGGG) c.2880+8_2880+9insGGGGGGGGGG (n.2880+8_2880+9insGGGGGGGGGG) n.287+8_287+9insGGGGGGGGGG | gnomAD v4 |
16 | g.56902516_56902517insGGGGGGGGGGG | CA2633375718 | SLC12A3 | c.2856+8_2856+9insGGGGGGGGGGG (n.2856+8_2856+9insGGGGGGGGGGG) c.2853+8_2853+9insGGGGGGGGGGG (n.2853+8_2853+9insGGGGGGGGGGG) c.2883+8_2883+9insGGGGGGGGGGG (n.2883+8_2883+9insGGGGGGGGGGG) c.2880+8_2880+9insGGGGGGGGGGG (n.2880+8_2880+9insGGGGGGGGGGG) n.287+8_287+9insGGGGGGGGGGG | gnomAD v4 |
16 | g.56902516_56902517insGGGGGGGGGGGG | CA2633375716 | SLC12A3 | c.2856+8_2856+9insGGGGGGGGGGGG (n.2856+8_2856+9insGGGGGGGGGGGG) c.2853+8_2853+9insGGGGGGGGGGGG (n.2853+8_2853+9insGGGGGGGGGGGG) c.2883+8_2883+9insGGGGGGGGGGGG (n.2883+8_2883+9insGGGGGGGGGGGG) c.2880+8_2880+9insGGGGGGGGGGGG (n.2880+8_2880+9insGGGGGGGGGGGG) n.287+8_287+9insGGGGGGGGGGGG | gnomAD v4 |
16 | g.56902516_56902517delinsGA | CA2224364862 | SLC12A3 | c.2856+8_2856+9delinsGA (n.2856+8_2856+9delinsGA) c.2853+8_2853+9delinsGA (n.2853+8_2853+9delinsGA) c.2883+8_2883+9delinsGA (n.2883+8_2883+9delinsGA) c.2880+8_2880+9delinsGA (n.2880+8_2880+9delinsGA) n.287+8_287+9delinsGA | |
16 | g.56902517del | CA622341879 | SLC12A3 | c.2856+9del (n.2856+9del) c.2853+9del (n.2853+9del) c.2883+9del (n.2883+9del) c.2880+9del (n.2880+9del) n.287+9del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56902517A= | CA2224364863 | SLC12A3 | c.2856+9A= (n.2856+9A=) c.2853+9A= (n.2853+9A=) c.2883+9A= (n.2883+9A=) c.2880+9A= (n.2880+9A=) n.287+9A= | |
16 | g.56902517A>C | CA2633375732 | SLC12A3 | c.2856+9A>C (n.2856+9A>C) c.2853+9A>C (n.2853+9A>C) c.2883+9A>C (n.2883+9A>C) c.2880+9A>C (n.2880+9A>C) n.287+9A>C | gnomAD v4 |
16 | g.56902517A>G | CA8070078 | SLC12A3 | c.2856+9A>G (n.2856+9A>G) c.2853+9A>G (n.2853+9A>G) c.2883+9A>G (n.2883+9A>G) c.2880+9A>G (n.2880+9A>G) n.287+9A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56902517A>T | CA915949277 | SLC12A3 | c.2856+9A>T (n.2856+9A>T) c.2853+9A>T (n.2853+9A>T) c.2883+9A>T (n.2883+9A>T) c.2880+9A>T (n.2880+9A>T) n.287+9A>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |