Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.37084675C>G | CA2656466785 | TMPRSS6 | c.1086+52G>C (n.1086+52G>C) c.1113+52G>C (n.1113+52G>C) c.99+52G>C (n.99+52G>C) c.654+52G>C (n.654+52G>C) | gnomAD v4 |
22 | g.37084675C>T | CA2656466786 | TMPRSS6 | c.1086+52G>A (n.1086+52G>A) c.1113+52G>A (n.1113+52G>A) c.99+52G>A (n.99+52G>A) c.654+52G>A (n.654+52G>A) | gnomAD v4 |
22 | g.37084676T>A | CA2656466789 | TMPRSS6 | c.1086+51A>T (n.1086+51A>T) c.1113+51A>T (n.1113+51A>T) c.99+51A>T (n.99+51A>T) c.654+51A>T (n.654+51A>T) | gnomAD v4 |
22 | g.37084676T>C | CA2656466788 | TMPRSS6 | c.1086+51A>G (n.1086+51A>G) c.1113+51A>G (n.1113+51A>G) c.99+51A>G (n.99+51A>G) c.654+51A>G (n.654+51A>G) | gnomAD v4 |
22 | g.37084679_37084683del | CA2656466787 | TMPRSS6 | c.1086+47_1086+51del (n.1086+47_1086+51del) c.1113+47_1113+51del (n.1113+47_1113+51del) c.99+47_99+51del (n.99+47_99+51del) c.654+47_654+51del (n.654+47_654+51del) | gnomAD v4 |
22 | g.37084677G>A | CA2577705960 | TMPRSS6 | c.1086+50C>T (n.1086+50C>T) c.1113+50C>T (n.1113+50C>T) c.99+50C>T (n.99+50C>T) c.654+50C>T (n.654+50C>T) | gnomAD v4 |
22 | g.37084677G>T | CA2656466790 | TMPRSS6 | c.1086+50C>A (n.1086+50C>A) c.1113+50C>A (n.1113+50C>A) c.99+50C>A (n.99+50C>A) c.654+50C>A (n.654+50C>A) | gnomAD v4 |
22 | g.37084678T>C | CA10215789 | TMPRSS6 | c.1086+49A>G (n.1086+49A>G) c.1113+49A>G (n.1113+49A>G) c.99+49A>G (n.99+49A>G) c.654+49A>G (n.654+49A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.37084678T>G | CA2656466791 | TMPRSS6 | c.1086+49A>C (n.1086+49A>C) c.1113+49A>C (n.1113+49A>C) c.99+49A>C (n.99+49A>C) c.654+49A>C (n.654+49A>C) | gnomAD v4 |
22 | g.37084678T= | CA2404176043 | TMPRSS6 | c.1086+49A= (n.1086+49A=) c.1113+49A= (n.1113+49A=) c.99+49A= (n.99+49A=) c.654+49A= (n.654+49A=) | |
22 | g.37084680G>A | CA639393677 | TMPRSS6 | c.1086+47C>T (n.1086+47C>T) c.1113+47C>T (n.1113+47C>T) c.99+47C>T (n.99+47C>T) c.654+47C>T (n.654+47C>T) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.37084680G>C | CA2656466792 | TMPRSS6 | c.1086+47C>G (n.1086+47C>G) c.1113+47C>G (n.1113+47C>G) c.99+47C>G (n.99+47C>G) c.654+47C>G (n.654+47C>G) | gnomAD v4 |
22 | g.37084680G= | CA2404176044 | TMPRSS6 | c.1086+47C= (n.1086+47C=) c.1113+47C= (n.1113+47C=) c.99+47C= (n.99+47C=) c.654+47C= (n.654+47C=) | |
22 | g.37084680G>T | CA639393678 | TMPRSS6 | c.1086+47C>A (n.1086+47C>A) c.1113+47C>A (n.1113+47C>A) c.99+47C>A (n.99+47C>A) c.654+47C>A (n.654+47C>A) | dbSNP gnomAD v2 |
22 | g.37084681T>A | CA2404176046 | TMPRSS6 | c.1086+46A>T (n.1086+46A>T) c.1113+46A>T (n.1113+46A>T) c.99+46A>T (n.99+46A>T) c.654+46A>T (n.654+46A>T) | dbSNP |
22 | g.37084681T>C | CA2577705961 | TMPRSS6 | c.1086+46A>G (n.1086+46A>G) c.1113+46A>G (n.1113+46A>G) c.99+46A>G (n.99+46A>G) c.654+46A>G (n.654+46A>G) | |
22 | g.37084681T= | CA2404176045 | TMPRSS6 | c.1086+46A= (n.1086+46A=) c.1113+46A= (n.1113+46A=) c.99+46A= (n.99+46A=) c.654+46A= (n.654+46A=) | |
22 | g.37084682G>A | CA2656466793 | TMPRSS6 | c.1086+45C>T (n.1086+45C>T) c.1113+45C>T (n.1113+45C>T) c.99+45C>T (n.99+45C>T) c.654+45C>T (n.654+45C>T) | gnomAD v4 |
22 | g.37084682G>T | CA2577705962 | TMPRSS6 | c.1086+45C>A (n.1086+45C>A) c.1113+45C>A (n.1113+45C>A) c.99+45C>A (n.99+45C>A) c.654+45C>A (n.654+45C>A) | gnomAD v4 |
22 | g.37084684G>A | CA2656466794 | TMPRSS6 | c.1086+43C>T (n.1086+43C>T) c.1113+43C>T (n.1113+43C>T) c.99+43C>T (n.99+43C>T) c.654+43C>T (n.654+43C>T) | gnomAD v4 |
22 | g.37084684G>T | CA2656466795 | TMPRSS6 | c.1086+43C>A (n.1086+43C>A) c.1113+43C>A (n.1113+43C>A) c.99+43C>A (n.99+43C>A) c.654+43C>A (n.654+43C>A) | gnomAD v4 |
22 | g.37084685C>A | CA2656466796 | TMPRSS6 | c.1086+42G>T (n.1086+42G>T) c.1113+42G>T (n.1113+42G>T) c.99+42G>T (n.99+42G>T) c.654+42G>T (n.654+42G>T) | gnomAD v4 |
22 | g.37084685C= | CA2404176047 | TMPRSS6 | c.1086+42G= (n.1086+42G=) c.1113+42G= (n.1113+42G=) c.99+42G= (n.99+42G=) c.654+42G= (n.654+42G=) | |
22 | g.37084685C>T | CA639393679 | TMPRSS6 | c.1086+42G>A (n.1086+42G>A) c.1113+42G>A (n.1113+42G>A) c.99+42G>A (n.99+42G>A) c.654+42G>A (n.654+42G>A) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.37084686T>A | CA2656466797 | TMPRSS6 | c.1086+41A>T (n.1086+41A>T) c.1113+41A>T (n.1113+41A>T) c.99+41A>T (n.99+41A>T) c.654+41A>T (n.654+41A>T) | gnomAD v4 |
22 | g.37084686T>C | CA752893655 | TMPRSS6 | c.1086+41A>G (n.1086+41A>G) c.1113+41A>G (n.1113+41A>G) c.99+41A>G (n.99+41A>G) c.654+41A>G (n.654+41A>G) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.37084686T= | CA2404176048 | TMPRSS6 | c.1086+41A= (n.1086+41A=) c.1113+41A= (n.1113+41A=) c.99+41A= (n.99+41A=) c.654+41A= (n.654+41A=) | |
22 | g.37084687T>C | CA2656466798 | TMPRSS6 | c.1086+40A>G (n.1086+40A>G) c.1113+40A>G (n.1113+40A>G) c.99+40A>G (n.99+40A>G) c.654+40A>G (n.654+40A>G) | gnomAD v4 |
22 | g.37084688G= | CA2404176049 | TMPRSS6 | c.1086+39C= (n.1086+39C=) c.1113+39C= (n.1113+39C=) c.99+39C= (n.99+39C=) c.654+39C= (n.654+39C=) | |
22 | g.37084688G>T | CA639393680 | TMPRSS6 | c.1086+39C>A (n.1086+39C>A) c.1113+39C>A (n.1113+39C>A) c.99+39C>A (n.99+39C>A) c.654+39C>A (n.654+39C>A) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.37084689C>A | CA639393681 | TMPRSS6 | c.1086+38G>T (n.1086+38G>T) c.1113+38G>T (n.1113+38G>T) c.99+38G>T (n.99+38G>T) c.654+38G>T (n.654+38G>T) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.37084689C= | CA2404176050 | TMPRSS6 | c.1086+38G= (n.1086+38G=) c.1113+38G= (n.1113+38G=) c.99+38G= (n.99+38G=) c.654+38G= (n.654+38G=) | |
22 | g.37084689C>T | CA639393682 | TMPRSS6 | c.1086+38G>A (n.1086+38G>A) c.1113+38G>A (n.1113+38G>A) c.99+38G>A (n.99+38G>A) c.654+38G>A (n.654+38G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.37084690G>A | CA10215790 | TMPRSS6 | c.1086+37C>T (n.1086+37C>T) c.1113+37C>T (n.1113+37C>T) c.99+37C>T (n.99+37C>T) c.654+37C>T (n.654+37C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.37084690G= | CA2404176051 | TMPRSS6 | c.1086+37C= (n.1086+37C=) c.1113+37C= (n.1113+37C=) c.99+37C= (n.99+37C=) c.654+37C= (n.654+37C=) | |
22 | g.37084690G>T | CA2656466799 | TMPRSS6 | c.1086+37C>A (n.1086+37C>A) c.1113+37C>A (n.1113+37C>A) c.99+37C>A (n.99+37C>A) c.654+37C>A (n.654+37C>A) | gnomAD v4 |
22 | g.37084691G>A | CA639393683 | TMPRSS6 | c.1086+36C>T (n.1086+36C>T) c.1113+36C>T (n.1113+36C>T) c.99+36C>T (n.99+36C>T) c.654+36C>T (n.654+36C>T) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.37084691G= | CA2404176052 | TMPRSS6 | c.1086+36C= (n.1086+36C=) c.1113+36C= (n.1113+36C=) c.99+36C= (n.99+36C=) c.654+36C= (n.654+36C=) | |
22 | g.37084691G>T | CA2656466800 | TMPRSS6 | c.1086+36C>A (n.1086+36C>A) c.1113+36C>A (n.1113+36C>A) c.99+36C>A (n.99+36C>A) c.654+36C>A (n.654+36C>A) | gnomAD v4 |
22 | g.37084692C>A | CA2656466801 | TMPRSS6 | c.1086+35G>T (n.1086+35G>T) c.1113+35G>T (n.1113+35G>T) c.99+35G>T (n.99+35G>T) c.654+35G>T (n.654+35G>T) | gnomAD v4 |
22 | g.37084692C>T | CA2656466802 | TMPRSS6 | c.1086+35G>A (n.1086+35G>A) c.1113+35G>A (n.1113+35G>A) c.99+35G>A (n.99+35G>A) c.654+35G>A (n.654+35G>A) | gnomAD v4 |
22 | g.37084693A= | CA2404176053 | TMPRSS6 | c.1086+34T= (n.1086+34T=) c.1113+34T= (n.1113+34T=) c.99+34T= (n.99+34T=) c.654+34T= (n.654+34T=) | |
22 | g.37084693A>G | CA639393684 | TMPRSS6 | c.1086+34T>C (n.1086+34T>C) c.1113+34T>C (n.1113+34T>C) c.99+34T>C (n.99+34T>C) c.654+34T>C (n.654+34T>C) | dbSNP gnomAD v2 |
22 | g.37084694G>A | CA639393685 | TMPRSS6 | c.1086+33C>T (n.1086+33C>T) c.1113+33C>T (n.1113+33C>T) c.99+33C>T (n.99+33C>T) c.654+33C>T (n.654+33C>T) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.37084694G= | CA2404176054 | TMPRSS6 | c.1086+33C= (n.1086+33C=) c.1113+33C= (n.1113+33C=) c.99+33C= (n.99+33C=) c.654+33C= (n.654+33C=) | |
22 | g.37084694G>T | CA2656466803 | TMPRSS6 | c.1086+33C>A (n.1086+33C>A) c.1113+33C>A (n.1113+33C>A) c.99+33C>A (n.99+33C>A) c.654+33C>A (n.654+33C>A) | gnomAD v4 |
22 | g.37084695A>G | CA2656466804 | TMPRSS6 | c.1086+32T>C (n.1086+32T>C) c.1113+32T>C (n.1113+32T>C) c.99+32T>C (n.99+32T>C) c.654+32T>C (n.654+32T>C) | gnomAD v4 |
22 | g.37084696G>A | CA324060439 | TMPRSS6 | c.1086+31C>T (n.1086+31C>T) c.1113+31C>T (n.1113+31C>T) c.99+31C>T (n.99+31C>T) c.654+31C>T (n.654+31C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.37084696G= | CA2404176055 | TMPRSS6 | c.1086+31C= (n.1086+31C=) c.1113+31C= (n.1113+31C=) c.99+31C= (n.99+31C=) c.654+31C= (n.654+31C=) | |
22 | g.37084696G>T | CA2656466805 | TMPRSS6 | c.1086+31C>A (n.1086+31C>A) c.1113+31C>A (n.1113+31C>A) c.99+31C>A (n.99+31C>A) c.654+31C>A (n.654+31C>A) | gnomAD v4 |
22 | g.37084703_37084710del | CA2577705963 | TMPRSS6 | c.1086+24_1086+31del (n.1086+24_1086+31del) c.1113+24_1113+31del (n.1113+24_1113+31del) c.99+24_99+31del (n.99+24_99+31del) c.654+24_654+31del (n.654+24_654+31del) | |
22 | g.37084697G>A | CA639393686 | TMPRSS6 | c.1086+30C>T (n.1086+30C>T) c.1113+30C>T (n.1113+30C>T) c.99+30C>T (n.99+30C>T) c.654+30C>T (n.654+30C>T) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.37084697G>C | CA2656466806 | TMPRSS6 | c.1086+30C>G (n.1086+30C>G) c.1113+30C>G (n.1113+30C>G) c.99+30C>G (n.99+30C>G) c.654+30C>G (n.654+30C>G) | gnomAD v4 |
22 | g.37084697G= | CA2404176056 | TMPRSS6 | c.1086+30C= (n.1086+30C=) c.1113+30C= (n.1113+30C=) c.99+30C= (n.99+30C=) c.654+30C= (n.654+30C=) | |
22 | g.37084698G>A | CA2656466807 | TMPRSS6 | c.1086+29C>T (n.1086+29C>T) c.1113+29C>T (n.1113+29C>T) c.99+29C>T (n.99+29C>T) c.654+29C>T (n.654+29C>T) | gnomAD v4 |
22 | g.37084699C= | CA2404176057 | TMPRSS6 | c.1086+28G= (n.1086+28G=) c.1113+28G= (n.1113+28G=) c.99+28G= (n.99+28G=) c.654+28G= (n.654+28G=) | |
22 | g.37084699C>T | CA639393687 | TMPRSS6 | c.1086+28G>A (n.1086+28G>A) c.1113+28G>A (n.1113+28G>A) c.99+28G>A (n.99+28G>A) c.654+28G>A (n.654+28G>A) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.37084700A>G | CA2656466808 | TMPRSS6 | c.1086+27T>C (n.1086+27T>C) c.1113+27T>C (n.1113+27T>C) c.99+27T>C (n.99+27T>C) c.654+27T>C (n.654+27T>C) | gnomAD v4 |
22 | g.37084700A>T | CA2656466809 | TMPRSS6 | c.1086+27T>A (n.1086+27T>A) c.1113+27T>A (n.1113+27T>A) c.99+27T>A (n.99+27T>A) c.654+27T>A (n.654+27T>A) | gnomAD v4 |
22 | g.37084701G>A | CA639393688 | TMPRSS6 | c.1086+26C>T (n.1086+26C>T) c.1113+26C>T (n.1113+26C>T) c.99+26C>T (n.99+26C>T) c.654+26C>T (n.654+26C>T) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.37084701G= | CA2404176058 | TMPRSS6 | c.1086+26C= (n.1086+26C=) c.1113+26C= (n.1113+26C=) c.99+26C= (n.99+26C=) c.654+26C= (n.654+26C=) | |
22 | g.37084701G>T | CA2656466810 | TMPRSS6 | c.1086+26C>A (n.1086+26C>A) c.1113+26C>A (n.1113+26C>A) c.99+26C>A (n.99+26C>A) c.654+26C>A (n.654+26C>A) | gnomAD v4 |
22 | g.37084702G>A | CA2656466811 | TMPRSS6 | c.1086+25C>T (n.1086+25C>T) c.1113+25C>T (n.1113+25C>T) c.99+25C>T (n.99+25C>T) c.654+25C>T (n.654+25C>T) | gnomAD v4 |
22 | g.37084702G= | CA2404176059 | TMPRSS6 | c.1086+25C= (n.1086+25C=) c.1113+25C= (n.1113+25C=) c.99+25C= (n.99+25C=) c.654+25C= (n.654+25C=) | |
22 | g.37084703T>C | CA10215791 | TMPRSS6 | c.1086+24A>G (n.1086+24A>G) c.1113+24A>G (n.1113+24A>G) c.99+24A>G (n.99+24A>G) c.654+24A>G (n.654+24A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.37084703T= | CA2404176060 | TMPRSS6 | c.1086+24A= (n.1086+24A=) c.1113+24A= (n.1113+24A=) c.99+24A= (n.99+24A=) c.654+24A= (n.654+24A=) | |
22 | g.37084703dup | CA752893693 | TMPRSS6 | c.1086+24dup (n.1086+24dup) c.1113+24dup (n.1113+24dup) c.99+24dup (n.99+24dup) c.654+24dup (n.654+24dup) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.37084704G>A | CA2656466813 | TMPRSS6 | c.1086+23C>T (n.1086+23C>T) c.1113+23C>T (n.1113+23C>T) c.99+23C>T (n.99+23C>T) c.654+23C>T (n.654+23C>T) | gnomAD v4 |
22 | g.37084704G>T | CA2656466814 | TMPRSS6 | c.1086+23C>A (n.1086+23C>A) c.1113+23C>A (n.1113+23C>A) c.99+23C>A (n.99+23C>A) c.654+23C>A (n.654+23C>A) | gnomAD v4 |
22 | g.37084706del | CA2656466812 | TMPRSS6 | c.1086+23del (n.1086+23del) c.1113+23del (n.1113+23del) c.99+23del (n.99+23del) c.654+23del (n.654+23del) | gnomAD v4 |
22 | g.37084705G>A | CA2656466816 | TMPRSS6 | c.1086+22C>T (n.1086+22C>T) c.1113+22C>T (n.1113+22C>T) c.99+22C>T (n.99+22C>T) c.654+22C>T (n.654+22C>T) | gnomAD v4 |
22 | g.37084705G>T | CA2656466815 | TMPRSS6 | c.1086+22C>A (n.1086+22C>A) c.1113+22C>A (n.1113+22C>A) c.99+22C>A (n.99+22C>A) c.654+22C>A (n.654+22C>A) | gnomAD v4 |
22 | g.37084706G>A | CA2656466817 | TMPRSS6 | c.1086+21C>T (n.1086+21C>T) c.1113+21C>T (n.1113+21C>T) c.99+21C>T (n.99+21C>T) c.654+21C>T (n.654+21C>T) | gnomAD v4 |
22 | g.37084706G>T | CA2656466818 | TMPRSS6 | c.1086+21C>A (n.1086+21C>A) c.1113+21C>A (n.1113+21C>A) c.99+21C>A (n.99+21C>A) c.654+21C>A (n.654+21C>A) | gnomAD v4 |
22 | g.37084707C>A | CA2404176061 | TMPRSS6 | c.1086+20G>T (n.1086+20G>T) c.1113+20G>T (n.1113+20G>T) c.99+20G>T (n.99+20G>T) c.654+20G>T (n.654+20G>T) | dbSNP gnomAD v4 |
22 | g.37084707C= | CA2404176062 | TMPRSS6 | c.1086+20G= (n.1086+20G=) c.1113+20G= (n.1113+20G=) c.99+20G= (n.99+20G=) c.654+20G= (n.654+20G=) | |
22 | g.37084707C>T | CA639393689 | TMPRSS6 | c.1086+20G>A (n.1086+20G>A) c.1113+20G>A (n.1113+20G>A) c.99+20G>A (n.99+20G>A) c.654+20G>A (n.654+20G>A) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.37084708A>G | CA2656466819 | TMPRSS6 | c.1086+19T>C (n.1086+19T>C) c.1113+19T>C (n.1113+19T>C) c.99+19T>C (n.99+19T>C) c.654+19T>C (n.654+19T>C) | gnomAD v4 |
22 | g.37084708A>T | CA2656466820 | TMPRSS6 | c.1086+19T>A (n.1086+19T>A) c.1113+19T>A (n.1113+19T>A) c.99+19T>A (n.99+19T>A) c.654+19T>A (n.654+19T>A) | gnomAD v4 |
22 | g.37084709G>A | CA324060448 | TMPRSS6 | c.1086+18C>T (n.1086+18C>T) c.1113+18C>T (n.1113+18C>T) c.99+18C>T (n.99+18C>T) c.654+18C>T (n.654+18C>T) | dbSNP gnomAD v4 |
22 | g.37084709G= | CA2404176063 | TMPRSS6 | c.1086+18C= (n.1086+18C=) c.1113+18C= (n.1113+18C=) c.99+18C= (n.99+18C=) c.654+18C= (n.654+18C=) | |
22 | g.37084709G>T | CA2656466821 | TMPRSS6 | c.1086+18C>A (n.1086+18C>A) c.1113+18C>A (n.1113+18C>A) c.99+18C>A (n.99+18C>A) c.654+18C>A (n.654+18C>A) | gnomAD v4 |
22 | g.37084710G>A | CA2404176065 | TMPRSS6 | c.1086+17C>T (n.1086+17C>T) c.1113+17C>T (n.1113+17C>T) c.99+17C>T (n.99+17C>T) c.654+17C>T (n.654+17C>T) | dbSNP gnomAD v4 |
22 | g.37084710G= | CA2404176064 | TMPRSS6 | c.1086+17C= (n.1086+17C=) c.1113+17C= (n.1113+17C=) c.99+17C= (n.99+17C=) c.654+17C= (n.654+17C=) | |
22 | g.37084710G>T | CA2656466822 | TMPRSS6 | c.1086+17C>A (n.1086+17C>A) c.1113+17C>A (n.1113+17C>A) c.99+17C>A (n.99+17C>A) c.654+17C>A (n.654+17C>A) | gnomAD v4 |
22 | g.37084711C>A | CA2656466823 | TMPRSS6 | c.1086+16G>T (n.1086+16G>T) c.1113+16G>T (n.1113+16G>T) c.99+16G>T (n.99+16G>T) c.654+16G>T (n.654+16G>T) | gnomAD v4 |
22 | g.37084711C= | CA2404176066 | TMPRSS6 | c.1086+16G= (n.1086+16G=) c.1113+16G= (n.1113+16G=) c.99+16G= (n.99+16G=) c.654+16G= (n.654+16G=) | |
22 | g.37084711C>G | CA2656466824 | TMPRSS6 | c.1086+16G>C (n.1086+16G>C) c.1113+16G>C (n.1113+16G>C) c.99+16G>C (n.99+16G>C) c.654+16G>C (n.654+16G>C) | gnomAD v4 |
22 | g.37084711C>T | CA639393690 | TMPRSS6 | c.1086+16G>A (n.1086+16G>A) c.1113+16G>A (n.1113+16G>A) c.99+16G>A (n.99+16G>A) c.654+16G>A (n.654+16G>A) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.37084712A= | CA2404176067 | TMPRSS6 | c.1086+15T= (n.1086+15T=) c.1113+15T= (n.1113+15T=) c.99+15T= (n.99+15T=) c.654+15T= (n.654+15T=) | |
22 | g.37084712A>G | CA2656466825 | TMPRSS6 | c.1086+15T>C (n.1086+15T>C) c.1113+15T>C (n.1113+15T>C) c.99+15T>C (n.99+15T>C) c.654+15T>C (n.654+15T>C) | gnomAD v4 |
22 | g.37084712A>T | CA2656466826 | TMPRSS6 | c.1086+15T>A (n.1086+15T>A) c.1113+15T>A (n.1113+15T>A) c.99+15T>A (n.99+15T>A) c.654+15T>A (n.654+15T>A) | gnomAD v4 |
22 | g.37084713G>A | CA639393691 | TMPRSS6 | c.1086+14C>T (n.1086+14C>T) c.1113+14C>T (n.1113+14C>T) c.99+14C>T (n.99+14C>T) c.654+14C>T (n.654+14C>T) | dbSNP gnomAD v2 |
22 | g.37084713G>C | CA2404176069 | TMPRSS6 | c.1086+14C>G (n.1086+14C>G) c.1113+14C>G (n.1113+14C>G) c.99+14C>G (n.99+14C>G) c.654+14C>G (n.654+14C>G) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.37084713G= | CA2404176068 | TMPRSS6 | c.1086+14C= (n.1086+14C=) c.1113+14C= (n.1113+14C=) c.99+14C= (n.99+14C=) c.654+14C= (n.654+14C=) | |
22 | g.37084713G>T | CA2656466827 | TMPRSS6 | c.1086+14C>A (n.1086+14C>A) c.1113+14C>A (n.1113+14C>A) c.99+14C>A (n.99+14C>A) c.654+14C>A (n.654+14C>A) | gnomAD v4 |
22 | g.37084716_37084719dup | CA324060455 | TMPRSS6 | c.1086+11_1086+14dup (n.1086+11_1086+14dup) c.1113+11_1113+14dup (n.1113+11_1113+14dup) c.99+11_99+14dup (n.99+11_99+14dup) c.654+11_654+14dup (n.654+11_654+14dup) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.37084714G>C | CA2577705964 | TMPRSS6 | c.1086+13C>G (n.1086+13C>G) c.1113+13C>G (n.1113+13C>G) c.99+13C>G (n.99+13C>G) c.654+13C>G (n.654+13C>G) | gnomAD v4 |
22 | g.37084714G= | CA2404176070 | TMPRSS6 | c.1086+13C= (n.1086+13C=) c.1113+13C= (n.1113+13C=) c.99+13C= (n.99+13C=) c.654+13C= (n.654+13C=) | |
22 | g.37084714G>T | CA639393692 | TMPRSS6 | c.1086+13C>A (n.1086+13C>A) c.1113+13C>A (n.1113+13C>A) c.99+13C>A (n.99+13C>A) c.654+13C>A (n.654+13C>A) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.37084715G>A | CA752893715 | TMPRSS6 | c.1086+12C>T (n.1086+12C>T) c.1113+12C>T (n.1113+12C>T) c.99+12C>T (n.99+12C>T) c.654+12C>T (n.654+12C>T) | dbSNP gnomAD v4 |
22 | g.37084715G= | CA2404176071 | TMPRSS6 | c.1086+12C= (n.1086+12C=) c.1113+12C= (n.1113+12C=) c.99+12C= (n.99+12C=) c.654+12C= (n.654+12C=) | |
22 | g.37084715G>T | CA2656466828 | TMPRSS6 | c.1086+12C>A (n.1086+12C>A) c.1113+12C>A (n.1113+12C>A) c.99+12C>A (n.99+12C>A) c.654+12C>A (n.654+12C>A) | gnomAD v4 |
22 | g.37084716T>G | CA10215792 | TMPRSS6 | c.1086+11A>C (n.1086+11A>C) c.1113+11A>C (n.1113+11A>C) c.99+11A>C (n.99+11A>C) c.654+11A>C (n.654+11A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.37084716T= | CA2404176072 | TMPRSS6 | c.1086+11A= (n.1086+11A=) c.1113+11A= (n.1113+11A=) c.99+11A= (n.99+11A=) c.654+11A= (n.654+11A=) | |
22 | g.37084717G>A | CA639393693 | TMPRSS6 | c.1086+10C>T (n.1086+10C>T) c.1113+10C>T (n.1113+10C>T) c.99+10C>T (n.99+10C>T) c.654+10C>T (n.654+10C>T) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.37084717G= | CA2404176073 | TMPRSS6 | c.1086+10C= (n.1086+10C=) c.1113+10C= (n.1113+10C=) c.99+10C= (n.99+10C=) c.654+10C= (n.654+10C=) | |
22 | g.37084717G>T | CA2656466830 | TMPRSS6 | c.1086+10C>A (n.1086+10C>A) c.1113+10C>A (n.1113+10C>A) c.99+10C>A (n.99+10C>A) c.654+10C>A (n.654+10C>A) | gnomAD v4 |
22 | g.37084720del | CA2656466829 | TMPRSS6 | c.1086+10del (n.1086+10del) c.1113+10del (n.1113+10del) c.99+10del (n.99+10del) c.654+10del (n.654+10del) | gnomAD v4 |
22 | g.37084718G>A | CA2656466831 | TMPRSS6 | c.1086+9C>T (n.1086+9C>T) c.1113+9C>T (n.1113+9C>T) c.99+9C>T (n.99+9C>T) c.654+9C>T (n.654+9C>T) | gnomAD v4 |
22 | g.37084718G>T | CA2577705965 | TMPRSS6 | c.1086+9C>A (n.1086+9C>A) c.1113+9C>A (n.1113+9C>A) c.99+9C>A (n.99+9C>A) c.654+9C>A (n.654+9C>A) | dbSNP gnomAD v4 |
22 | g.37084719G>A | CA2404176075 | TMPRSS6 | c.1086+8C>T (n.1086+8C>T) c.1113+8C>T (n.1113+8C>T) c.99+8C>T (n.99+8C>T) c.654+8C>T (n.654+8C>T) | dbSNP gnomAD v4 |
22 | g.37084719G= | CA2404176074 | TMPRSS6 | c.1086+8C= (n.1086+8C=) c.1113+8C= (n.1113+8C=) c.99+8C= (n.99+8C=) c.654+8C= (n.654+8C=) | |
22 | g.37084719G>T | CA2656466832 | TMPRSS6 | c.1086+8C>A (n.1086+8C>A) c.1113+8C>A (n.1113+8C>A) c.99+8C>A (n.99+8C>A) c.654+8C>A (n.654+8C>A) | gnomAD v4 |
22 | g.37084720G>A | CA639393694 | TMPRSS6 | c.1086+7C>T (n.1086+7C>T) c.1113+7C>T (n.1113+7C>T) c.99+7C>T (n.99+7C>T) c.654+7C>T (n.654+7C>T) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.37084720G= | CA2404176076 | TMPRSS6 | c.1086+7C= (n.1086+7C=) c.1113+7C= (n.1113+7C=) c.99+7C= (n.99+7C=) c.654+7C= (n.654+7C=) | |
22 | g.37084720G>T | CA2656466833 | TMPRSS6 | c.1086+7C>A (n.1086+7C>A) c.1113+7C>A (n.1113+7C>A) c.99+7C>A (n.99+7C>A) c.654+7C>A (n.654+7C>A) | gnomAD v4 |
22 | g.37084721T>C | CA2656466834 | TMPRSS6 | c.1086+6A>G (n.1086+6A>G) c.1113+6A>G (n.1113+6A>G) c.99+6A>G (n.99+6A>G) c.654+6A>G (n.654+6A>G) | gnomAD v4 |
22 | g.37084721T>G | CA2404176078 | TMPRSS6 | c.1086+6A>C (n.1086+6A>C) c.1113+6A>C (n.1113+6A>C) c.99+6A>C (n.99+6A>C) c.654+6A>C (n.654+6A>C) | dbSNP gnomAD v4 |
22 | g.37084721T= | CA2404176077 | TMPRSS6 | c.1086+6A= (n.1086+6A=) c.1113+6A= (n.1113+6A=) c.99+6A= (n.99+6A=) c.654+6A= (n.654+6A=) | |
22 | g.37084722C>A | CA2656466835 | TMPRSS6 | c.1086+5G>T (n.1086+5G>T) c.1113+5G>T (n.1113+5G>T) c.99+5G>T (n.99+5G>T) c.654+5G>T (n.654+5G>T) | gnomAD v4 |
22 | g.37084722C>T | CA2656466836 | TMPRSS6 | c.1086+5G>A (n.1086+5G>A) c.1113+5G>A (n.1113+5G>A) c.99+5G>A (n.99+5G>A) c.654+5G>A (n.654+5G>A) | gnomAD v4 |
22 | g.37084723T>C | CA10215793 | TMPRSS6 | c.1086+4A>G (n.1086+4A>G) c.1113+4A>G (n.1113+4A>G) c.99+4A>G (n.99+4A>G) c.654+4A>G (n.654+4A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.37084723T= | CA2404176079 | TMPRSS6 | c.1086+4A= (n.1086+4A=) c.1113+4A= (n.1113+4A=) c.99+4A= (n.99+4A=) c.654+4A= (n.654+4A=) | |
22 | g.37084724C>A | CA2656466837 | TMPRSS6 | c.1086+3G>T (n.1086+3G>T) c.1113+3G>T (n.1113+3G>T) c.99+3G>T (n.99+3G>T) c.654+3G>T (n.654+3G>T) | gnomAD v4 |
22 | g.37084724C>T | CA2656466838 | TMPRSS6 | c.1086+3G>A (n.1086+3G>A) c.1113+3G>A (n.1113+3G>A) c.99+3G>A (n.99+3G>A) c.654+3G>A (n.654+3G>A) | gnomAD v4 |
22 | g.37084725A>C | CA411424584 | TMPRSS6 | c.1086+2T>G (n.1086+2T>G) c.1113+2T>G (n.1113+2T>G) c.99+2T>G (n.99+2T>G) c.654+2T>G (n.654+2T>G) | |
22 | g.37084725A>G | CA411424586 | TMPRSS6 | c.1086+2T>C (n.1086+2T>C) c.1113+2T>C (n.1113+2T>C) c.99+2T>C (n.99+2T>C) c.654+2T>C (n.654+2T>C) | gnomAD v4 |
22 | g.37084725A>T | CA411424588 | TMPRSS6 | c.1086+2T>A (n.1086+2T>A) c.1113+2T>A (n.1113+2T>A) c.99+2T>A (n.99+2T>A) c.654+2T>A (n.654+2T>A) | |
22 | g.37084726C>A | CA411424590 | TMPRSS6 | c.1086+1G>T (n.1086+1G>T) c.1113+1G>T (n.1113+1G>T) c.99+1G>T (n.99+1G>T) c.654+1G>T (n.654+1G>T) | gnomAD v4 |
22 | g.37084726C= | CA2404176080 | TMPRSS6 | c.1086+1G= (n.1086+1G=) c.1113+1G= (n.1113+1G=) c.99+1G= (n.99+1G=) c.654+1G= (n.654+1G=) | |
22 | g.37084726C>G | CA411424591 | TMPRSS6 | c.1086+1G>C (n.1086+1G>C) c.1113+1G>C (n.1113+1G>C) c.99+1G>C (n.99+1G>C) c.654+1G>C (n.654+1G>C) | gnomAD v4 |
22 | g.37084726C>T | CA411424593 | TMPRSS6 | c.1086+1G>A (n.1086+1G>A) c.1113+1G>A (n.1113+1G>A) c.99+1G>A (n.99+1G>A) c.654+1G>A (n.654+1G>A) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.37084727C>A | CA514485999 | TMPRSS6 | c.1086G>T (p.Thr362=) c.1113G>T (p.Thr371=) c.99G>T (p.Thr33=) c.654G>T (p.Thr218=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.37084727C= | CA2404176081 | TMPRSS6 | c.1086G= (p.Thr362=) c.1113G= (p.Thr371=) c.99G= (p.Thr33=) c.654G= (p.Thr218=) | |
22 | g.37084727C>G | CA514486002 | TMPRSS6 | c.1086G>C (p.Thr362=) c.1113G>C (p.Thr371=) c.99G>C (p.Thr33=) c.654G>C (p.Thr218=) | |
22 | g.37084727C>T | CA324060462 | TMPRSS6 | c.1086G>A (p.Thr362=) c.1113G>A (p.Thr371=) c.99G>A (p.Thr33=) c.654G>A (p.Thr218=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.37084728G>A | CA10215794 | TMPRSS6 | c.1085C>T (p.Thr362Met) c.1112C>T (p.Thr371Met) c.98C>T (p.Thr33Met) c.653C>T (p.Thr218Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.37084728G>C | CA411424597 | TMPRSS6 | c.1085C>G (p.Thr362Arg) c.1112C>G (p.Thr371Arg) c.98C>G (p.Thr33Arg) c.653C>G (p.Thr218Arg) | gnomAD v4 |
22 | g.37084728G= | CA2404176082 | TMPRSS6 | c.1085C= (p.Thr362=) c.1112C= (p.Thr371=) c.98C= (p.Thr33=) c.653C= (p.Thr218=) | |
22 | g.37084728G>T | CA411424595 | TMPRSS6 | c.1085C>A (p.Thr362Lys) c.1112C>A (p.Thr371Lys) c.98C>A (p.Thr33Lys) c.653C>A (p.Thr218Lys) | gnomAD v4 |
22 | g.37084729T>A | CA411424600 | TMPRSS6 | c.1084A>T (p.Thr362Ser) c.1111A>T (p.Thr371Ser) c.97A>T (p.Thr33Ser) c.652A>T (p.Thr218Ser) | |
22 | g.37084729T>C | CA411424602 | TMPRSS6 | c.1084A>G (p.Thr362Ala) c.1111A>G (p.Thr371Ala) c.97A>G (p.Thr33Ala) c.652A>G (p.Thr218Ala) | gnomAD v4 |
22 | g.37084729T>G | CA411424603 | TMPRSS6 | c.1084A>C (p.Thr362Pro) c.1111A>C (p.Thr371Pro) c.97A>C (p.Thr33Pro) c.652A>C (p.Thr218Pro) | gnomAD v4 |
22 | g.37084730G>A | CA514486017 | TMPRSS6 | c.1083C>T (p.Leu361=) c.1110C>T (p.Leu370=) c.96C>T (p.Leu32=) c.651C>T (p.Leu217=) | |
22 | g.37084730G>C | CA514486018 | TMPRSS6 | c.1083C>G (p.Leu361=) c.1110C>G (p.Leu370=) c.96C>G (p.Leu32=) c.651C>G (p.Leu217=) | |
22 | g.37084730G>T | CA514486020 | TMPRSS6 | c.1083C>A (p.Leu361=) c.1110C>A (p.Leu370=) c.96C>A (p.Leu32=) c.651C>A (p.Leu217=) | gnomAD v4 |
22 | g.37084731A= | CA2404176083 | TMPRSS6 | c.1082T= (p.Leu361=) c.1109T= (p.Leu370=) c.95T= (p.Leu32=) c.650T= (p.Leu217=) | |
22 | g.37084731A>C | CA411424604 | TMPRSS6 | c.1082T>G (p.Leu361Arg) c.1109T>G (p.Leu370Arg) c.95T>G (p.Leu32Arg) c.650T>G (p.Leu217Arg) | dbSNP |
22 | g.37084731A>G | CA411424606 | TMPRSS6 | c.1082T>C (p.Leu361Pro) c.1109T>C (p.Leu370Pro) c.95T>C (p.Leu32Pro) c.650T>C (p.Leu217Pro) | gnomAD v4 |
22 | g.37084731A>T | CA411424607 | TMPRSS6 | c.1082T>A (p.Leu361His) c.1109T>A (p.Leu370His) c.95T>A (p.Leu32His) c.650T>A (p.Leu217His) | |
22 | g.37084732G>A | CA411424609 | TMPRSS6 | c.1081C>T (p.Leu361Phe) c.1108C>T (p.Leu370Phe) c.94C>T (p.Leu32Phe) c.649C>T (p.Leu217Phe) | gnomAD v4 |
22 | g.37084732G>C | CA411424611 | TMPRSS6 | c.1081C>G (p.Leu361Val) c.1108C>G (p.Leu370Val) c.94C>G (p.Leu32Val) c.649C>G (p.Leu217Val) | |
22 | g.37084732G>T | CA411424612 | TMPRSS6 | c.1081C>A (p.Leu361Ile) c.1108C>A (p.Leu370Ile) c.94C>A (p.Leu32Ile) c.649C>A (p.Leu217Ile) | gnomAD v4 |
22 | g.37084733G>A | CA514486500 | TMPRSS6 | c.1080C>T (p.His360=) c.1107C>T (p.His369=) c.93C>T (p.His31=) c.648C>T (p.His216=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.37084733G>C | CA411424614 | TMPRSS6 | c.1080C>G (p.His360Gln) c.1107C>G (p.His369Gln) c.93C>G (p.His31Gln) c.648C>G (p.His216Gln) | |
22 | g.37084733G= | CA2404176084 | TMPRSS6 | c.1080C= (p.His360=) c.1107C= (p.His369=) c.93C= (p.His31=) c.648C= (p.His216=) | |
22 | g.37084733G>T | CA411424615 | TMPRSS6 | c.1080C>A (p.His360Gln) c.1107C>A (p.His369Gln) c.93C>A (p.His31Gln) c.648C>A (p.His216Gln) | |
22 | g.37084734T>A | CA411424616 | TMPRSS6 | c.1079A>T (p.His360Leu) c.1106A>T (p.His369Leu) c.92A>T (p.His31Leu) c.647A>T (p.His216Leu) | |
22 | g.37084734T>C | CA324060464 | TMPRSS6 | c.1079A>G (p.His360Arg) c.1106A>G (p.His369Arg) c.92A>G (p.His31Arg) c.647A>G (p.His216Arg) | dbSNP gnomAD v4 |
22 | g.37084734T>G | CA411424617 | TMPRSS6 | c.1079A>C (p.His360Pro) c.1106A>C (p.His369Pro) c.92A>C (p.His31Pro) c.647A>C (p.His216Pro) | |
22 | g.37084734T= | CA2404176085 | TMPRSS6 | c.1079A= (p.His360=) c.1106A= (p.His369=) c.92A= (p.His31=) c.647A= (p.His216=) | |
22 | g.37084735G>A | CA10215795 | TMPRSS6 | c.1078C>T (p.His360Tyr) c.1105C>T (p.His369Tyr) c.91C>T (p.His31Tyr) c.646C>T (p.His216Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.37084735G>C | CA411424622 | TMPRSS6 | c.1078C>G (p.His360Asp) c.1105C>G (p.His369Asp) c.91C>G (p.His31Asp) c.646C>G (p.His216Asp) | |
22 | g.37084735G= | CA2404176086 | TMPRSS6 | c.1078C= (p.His360=) c.1105C= (p.His369=) c.91C= (p.His31=) c.646C= (p.His216=) | |
22 | g.37084735G>T | CA411424619 | TMPRSS6 | c.1078C>A (p.His360Asn) c.1105C>A (p.His369Asn) c.91C>A (p.His31Asn) c.646C>A (p.His216Asn) | gnomAD v4 |
22 | g.37084736C>A | CA324060471 | TMPRSS6 | c.1077G>T (p.Trp359Cys) c.1104G>T (p.Trp368Cys) c.90G>T (p.Trp30Cys) c.645G>T (p.Trp215Cys) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.37084736C= | CA2404176087 | TMPRSS6 | c.1077G= (p.Trp359=) c.1104G= (p.Trp368=) c.90G= (p.Trp30=) c.645G= (p.Trp215=) | |
22 | g.37084736C>G | CA411424624 | TMPRSS6 | c.1077G>C (p.Trp359Cys) c.1104G>C (p.Trp368Cys) c.90G>C (p.Trp30Cys) c.645G>C (p.Trp215Cys) | |
22 | g.37084736C>T | CA411424626 | TMPRSS6 | c.1077G>A (p.Trp359Ter) c.1104G>A (p.Trp368Ter) c.90G>A (p.Trp30Ter) c.645G>A (p.Trp215Ter) | gnomAD v4 |
22 | g.37084736_37084737del | CA2818904296 | TMPRSS6 | c.1076_1077del (p.Trp359SerfsTer16) c.1103_1104del (p.Trp368SerfsTer16) c.89_90del (p.Trp30SerfsTer16) c.644_645del (p.Trp215SerfsTer16) | |
22 | g.37084737C>A | CA411424627 | TMPRSS6 | c.1076G>T (p.Trp359Leu) c.1103G>T (p.Trp368Leu) c.89G>T (p.Trp30Leu) c.644G>T (p.Trp215Leu) | gnomAD v4 |
22 | g.37084737C>G | CA411424628 | TMPRSS6 | c.1076G>C (p.Trp359Ser) c.1103G>C (p.Trp368Ser) c.89G>C (p.Trp30Ser) c.644G>C (p.Trp215Ser) | |
22 | g.37084737C>T | CA411424629 | TMPRSS6 | c.1076G>A (p.Trp359Ter) c.1103G>A (p.Trp368Ter) c.89G>A (p.Trp30Ter) c.644G>A (p.Trp215Ter) | gnomAD v4 |
22 | g.37084738A>C | CA411424631 | TMPRSS6 | c.1075T>G (p.Trp359Gly) c.1102T>G (p.Trp368Gly) c.88T>G (p.Trp30Gly) c.643T>G (p.Trp215Gly) | |
22 | g.37084738A>G | CA411424633 | TMPRSS6 | c.1075T>C (p.Trp359Arg) c.1102T>C (p.Trp368Arg) c.88T>C (p.Trp30Arg) c.643T>C (p.Trp215Arg) | gnomAD v4 |
22 | g.37084738A>T | CA411424635 | TMPRSS6 | c.1075T>A (p.Trp359Arg) c.1102T>A (p.Trp368Arg) c.88T>A (p.Trp30Arg) c.643T>A (p.Trp215Arg) | gnomAD v4 |
22 | g.37084739G>A | CA514486502 | TMPRSS6 | c.1074C>T (p.Ser358=) c.1101C>T (p.Ser367=) c.87C>T (p.Ser29=) c.642C>T (p.Ser214=) | gnomAD v4 |
22 | g.37084739G>C | CA514486503 | TMPRSS6 | c.1074C>G (p.Ser358=) c.1101C>G (p.Ser367=) c.87C>G (p.Ser29=) c.642C>G (p.Ser214=) | |
22 | g.37084739G>T | CA514486504 | TMPRSS6 | c.1074C>A (p.Ser358=) c.1101C>A (p.Ser367=) c.87C>A (p.Ser29=) c.642C>A (p.Ser214=) | gnomAD v4 |
22 | g.37084740G>A | CA411424637 | TMPRSS6 | c.1073C>T (p.Ser358Phe) c.1100C>T (p.Ser367Phe) c.86C>T (p.Ser29Phe) c.641C>T (p.Ser214Phe) | gnomAD v4 |
22 | g.37084740G>C | CA411424639 | TMPRSS6 | c.1073C>G (p.Ser358Cys) c.1100C>G (p.Ser367Cys) c.86C>G (p.Ser29Cys) c.641C>G (p.Ser214Cys) | gnomAD v4 |
22 | g.37084740G>T | CA411424640 | TMPRSS6 | c.1073C>A (p.Ser358Tyr) c.1100C>A (p.Ser367Tyr) c.86C>A (p.Ser29Tyr) c.641C>A (p.Ser214Tyr) | gnomAD v4 |
22 | g.37084741A= | CA2404176088 | TMPRSS6 | c.1072T= (p.Ser358=) c.1099T= (p.Ser367=) c.85T= (p.Ser29=) c.640T= (p.Ser214=) | |
22 | g.37084741A>C | CA411424646 | TMPRSS6 | c.1072T>G (p.Ser358Ala) c.1099T>G (p.Ser367Ala) c.85T>G (p.Ser29Ala) c.640T>G (p.Ser214Ala) | |
22 | g.37084741A>G | CA411424643 | TMPRSS6 | c.1072T>C (p.Ser358Pro) c.1099T>C (p.Ser367Pro) c.85T>C (p.Ser29Pro) c.640T>C (p.Ser214Pro) | dbSNP gnomAD v4 |
22 | g.37084741A>T | CA411424644 | TMPRSS6 | c.1072T>A (p.Ser358Thr) c.1099T>A (p.Ser367Thr) c.85T>A (p.Ser29Thr) c.640T>A (p.Ser214Thr) | |
22 | g.37084742G>A | CA10215796 | TMPRSS6 | c.1071C>T (p.Cys357=) c.1098C>T (p.Cys366=) c.84C>T (p.Cys28=) c.639C>T (p.Cys213=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.37084742G>C | CA411424648 | TMPRSS6 | c.1071C>G (p.Cys357Trp) c.1098C>G (p.Cys366Trp) c.84C>G (p.Cys28Trp) c.639C>G (p.Cys213Trp) | |
22 | g.37084742G= | CA2404176089 | TMPRSS6 | c.1071C= (p.Cys357=) c.1098C= (p.Cys366=) c.84C= (p.Cys28=) c.639C= (p.Cys213=) | |
22 | g.37084742G>T | CA411424649 | TMPRSS6 | c.1071C>A (p.Cys357Ter) c.1098C>A (p.Cys366Ter) c.84C>A (p.Cys28Ter) c.639C>A (p.Cys213Ter) | gnomAD v4 |
22 | g.37084743C>A | CA411424651 | TMPRSS6 | c.1070G>T (p.Cys357Phe) c.1097G>T (p.Cys366Phe) c.83G>T (p.Cys28Phe) c.638G>T (p.Cys213Phe) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.37084743C= | CA2404176090 | TMPRSS6 | c.1070G= (p.Cys357=) c.1097G= (p.Cys366=) c.83G= (p.Cys28=) c.638G= (p.Cys213=) | |
22 | g.37084743C>G | CA411424652 | TMPRSS6 | c.1070G>C (p.Cys357Ser) c.1097G>C (p.Cys366Ser) c.83G>C (p.Cys28Ser) c.638G>C (p.Cys213Ser) | |
22 | g.37084743C>T | CA411424654 | TMPRSS6 | c.1070G>A (p.Cys357Tyr) c.1097G>A (p.Cys366Tyr) c.83G>A (p.Cys28Tyr) c.638G>A (p.Cys213Tyr) | gnomAD v4 |
22 | g.37084743_37084744delinsCA | CA2404176091 | TMPRSS6 | c.1069_1070delinsTG (p.Cys357=) c.1096_1097delinsTG (p.Cys366=) c.82_83delinsTG (p.Cys28=) c.637_638delinsTG (p.Cys213=) | |
22 | g.37084744del | CA1025533420 | TMPRSS6 | c.1069del (p.Cys357AlafsTer23) c.1096del (p.Cys366AlafsTer23) c.82del (p.Cys28AlafsTer23) c.637del (p.Cys213AlafsTer23) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.37084744A= | CA2404176092 | TMPRSS6 | c.1069T= (p.Cys357=) c.1096T= (p.Cys366=) c.82T= (p.Cys28=) c.637T= (p.Cys213=) | |
22 | g.37084744A>C | CA411424656 | TMPRSS6 | c.1069T>G (p.Cys357Gly) c.1096T>G (p.Cys366Gly) c.82T>G (p.Cys28Gly) c.637T>G (p.Cys213Gly) | |
22 | g.37084744A>G | CA10653485 | TMPRSS6 | c.1069T>C (p.Cys357Arg) c.1096T>C (p.Cys366Arg) c.82T>C (p.Cys28Arg) c.637T>C (p.Cys213Arg) | ClinVar dbSNP gnomAD v4 |
22 | g.37084744A>T | CA411424658 | TMPRSS6 | c.1069T>A (p.Cys357Ser) c.1096T>A (p.Cys366Ser) c.82T>A (p.Cys28Ser) c.637T>A (p.Cys213Ser) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.37084745G>A | CA514486506 | TMPRSS6 | c.1068C>T (p.His356=) c.1095C>T (p.His365=) c.81C>T (p.His27=) c.636C>T (p.His212=) | gnomAD v4 |
22 | g.37084745G>C | CA411424660 | TMPRSS6 | c.1068C>G (p.His356Gln) c.1095C>G (p.His365Gln) c.81C>G (p.His27Gln) c.636C>G (p.His212Gln) | |
22 | g.37084745G>T | CA411424661 | TMPRSS6 | c.1068C>A (p.His356Gln) c.1095C>A (p.His365Gln) c.81C>A (p.His27Gln) c.636C>A (p.His212Gln) | gnomAD v4 |
22 | g.37084746T>A | CA411424665 | TMPRSS6 | c.1067A>T (p.His356Leu) c.1094A>T (p.His365Leu) c.80A>T (p.His27Leu) c.635A>T (p.His212Leu) | |
22 | g.37084746T>C | CA411424663 | TMPRSS6 | c.1067A>G (p.His356Arg) c.1094A>G (p.His365Arg) c.80A>G (p.His27Arg) c.635A>G (p.His212Arg) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.37084746T>G | CA411424662 | TMPRSS6 | c.1067A>C (p.His356Pro) c.1094A>C (p.His365Pro) c.80A>C (p.His27Pro) c.635A>C (p.His212Pro) | |
22 | g.37084746T= | CA2404176093 | TMPRSS6 | c.1067A= (p.His356=) c.1094A= (p.His365=) c.80A= (p.His27=) c.635A= (p.His212=) | |
22 | g.37084747G>A | CA411424667 | TMPRSS6 | c.1066C>T (p.His356Tyr) c.1093C>T (p.His365Tyr) c.79C>T (p.His27Tyr) c.634C>T (p.His212Tyr) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.37084747G>C | CA411424669 | TMPRSS6 | c.1066C>G (p.His356Asp) c.1093C>G (p.His365Asp) c.79C>G (p.His27Asp) c.634C>G (p.His212Asp) | gnomAD v4 |
22 | g.37084747G= | CA2404176094 | TMPRSS6 | c.1066C= (p.His356=) c.1093C= (p.His365=) c.79C= (p.His27=) c.634C= (p.His212=) | |
22 | g.37084747G>T | CA411424671 | TMPRSS6 | c.1066C>A (p.His356Asn) c.1093C>A (p.His365Asn) c.79C>A (p.His27Asn) c.634C>A (p.His212Asn) | gnomAD v4 |
22 | g.37084749del | CA2656466839 | TMPRSS6 | c.1066del (p.His356ThrfsTer24) c.1093del (p.His365ThrfsTer24) c.79del (p.His27ThrfsTer24) c.634del (p.His212ThrfsTer24) | gnomAD v4 |
22 | g.37084748G>A | CA10215797 | TMPRSS6 | c.1065C>T (p.Thr355=) c.1092C>T (p.Thr364=) c.78C>T (p.Thr26=) c.633C>T (p.Thr211=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
22 | g.37084748G>C | CA514486512 | TMPRSS6 | c.1065C>G (p.Thr355=) c.1092C>G (p.Thr364=) c.78C>G (p.Thr26=) c.633C>G (p.Thr211=) | |
22 | g.37084748G= | CA2404176095 | TMPRSS6 | c.1065C= (p.Thr355=) c.1092C= (p.Thr364=) c.78C= (p.Thr26=) c.633C= (p.Thr211=) | |
22 | g.37084748G>T | CA514486513 | TMPRSS6 | c.1065C>A (p.Thr355=) c.1092C>A (p.Thr364=) c.78C>A (p.Thr26=) c.633C>A (p.Thr211=) | gnomAD v4 |
22 | g.37084749G>A | CA411424672 | TMPRSS6 | c.1064C>T (p.Thr355Ile) c.1091C>T (p.Thr364Ile) c.77C>T (p.Thr26Ile) c.632C>T (p.Thr211Ile) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.37084749G>C | CA411424674 | TMPRSS6 | c.1064C>G (p.Thr355Ser) c.1091C>G (p.Thr364Ser) c.77C>G (p.Thr26Ser) c.632C>G (p.Thr211Ser) | |
22 | g.37084749G= | CA2404176096 | TMPRSS6 | c.1064C= (p.Thr355=) c.1091C= (p.Thr364=) c.77C= (p.Thr26=) c.632C= (p.Thr211=) | |
22 | g.37084749G>T | CA411424676 | TMPRSS6 | c.1064C>A (p.Thr355Asn) c.1091C>A (p.Thr364Asn) c.77C>A (p.Thr26Asn) c.632C>A (p.Thr211Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.37084750T>A | CA411424677 | TMPRSS6 | c.1063A>T (p.Thr355Ser) c.1090A>T (p.Thr364Ser) c.76A>T (p.Thr26Ser) c.631A>T (p.Thr211Ser) | gnomAD v4 |
22 | g.37084750T>C | CA411424679 | TMPRSS6 | c.1063A>G (p.Thr355Ala) c.1090A>G (p.Thr364Ala) c.76A>G (p.Thr26Ala) c.631A>G (p.Thr211Ala) | gnomAD v4 |
22 | g.37084750T>G | CA411424681 | TMPRSS6 | c.1063A>C (p.Thr355Pro) c.1090A>C (p.Thr364Pro) c.76A>C (p.Thr26Pro) c.631A>C (p.Thr211Pro) | gnomAD v4 |
22 | g.37084752del | CA2656466840 | TMPRSS6 | c.1063del (p.Thr355ProfsTer25) c.1090del (p.Thr364ProfsTer25) c.76del (p.Thr26ProfsTer25) c.631del (p.Thr211ProfsTer25) | gnomAD v4 |
22 | g.37084751T>A | CA411424682 | TMPRSS6 | c.1062A>T (p.Gln354His) c.1089A>T (p.Gln363His) c.75A>T (p.Gln25His) c.630A>T (p.Gln210His) | |
22 | g.37084751T>C | CA10215798 | TMPRSS6 | c.1062A>G (p.Gln354=) c.1089A>G (p.Gln363=) c.75A>G (p.Gln25=) c.630A>G (p.Gln210=) | dbSNP ExAC gnomAD v4 |
22 | g.37084751T>G | CA411424683 | TMPRSS6 | c.1062A>C (p.Gln354His) c.1089A>C (p.Gln363His) c.75A>C (p.Gln25His) c.630A>C (p.Gln210His) | |
22 | g.37084751T= | CA2404176097 | TMPRSS6 | c.1062A= (p.Gln354=) c.1089A= (p.Gln363=) c.75A= (p.Gln25=) c.630A= (p.Gln210=) | |
22 | g.37084752T>A | CA411424686 | TMPRSS6 | c.1061A>T (p.Gln354Leu) c.1088A>T (p.Gln363Leu) c.74A>T (p.Gln25Leu) c.629A>T (p.Gln210Leu) | |
22 | g.37084752T>C | CA411424685 | TMPRSS6 | c.1061A>G (p.Gln354Arg) c.1088A>G (p.Gln363Arg) c.74A>G (p.Gln25Arg) c.629A>G (p.Gln210Arg) | gnomAD v4 |
22 | g.37084752T>G | CA411424684 | TMPRSS6 | c.1061A>C (p.Gln354Pro) c.1088A>C (p.Gln363Pro) c.74A>C (p.Gln25Pro) c.629A>C (p.Gln210Pro) | |
22 | g.37084753G>A | CA411424687 | TMPRSS6 | c.1060C>T (p.Gln354Ter) c.1087C>T (p.Gln363Ter) c.73C>T (p.Gln25Ter) c.628C>T (p.Gln210Ter) | gnomAD v4 |
22 | g.37084753G>C | CA411424688 | TMPRSS6 | c.1060C>G (p.Gln354Glu) c.1087C>G (p.Gln363Glu) c.73C>G (p.Gln25Glu) c.628C>G (p.Gln210Glu) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.37084753G= | CA2404176098 | TMPRSS6 | c.1060C= (p.Gln354=) c.1087C= (p.Gln363=) c.73C= (p.Gln25=) c.628C= (p.Gln210=) | |
22 | g.37084753G>T | CA411424689 | TMPRSS6 | c.1060C>A (p.Gln354Lys) c.1087C>A (p.Gln363Lys) c.73C>A (p.Gln25Lys) c.628C>A (p.Gln210Lys) | dbSNP gnomAD v4 |
22 | g.37084755_37084756dup | CA2656466842 | TMPRSS6 | c.1059_1060dup (p.Gln354ProfsTer27) c.1086_1087dup (p.Gln363ProfsTer27) c.72_73dup (p.Gln25ProfsTer27) c.627_628dup (p.Gln210ProfsTer27) | gnomAD v4 |
22 | g.37084756del | CA2656466841 | TMPRSS6 | c.1060del (p.Gln354LysfsTer26) c.1087del (p.Gln363LysfsTer26) c.73del (p.Gln25LysfsTer26) c.628del (p.Gln210LysfsTer26) | gnomAD v4 |
22 | g.37084754G>A | CA514486520 | TMPRSS6 | c.1059C>T (p.Pro353=) c.1086C>T (p.Pro362=) c.72C>T (p.Pro24=) c.627C>T (p.Pro209=) | gnomAD v4 |
22 | g.37084754G>C | CA514486522 | TMPRSS6 | c.1059C>G (p.Pro353=) c.1086C>G (p.Pro362=) c.72C>G (p.Pro24=) c.627C>G (p.Pro209=) | gnomAD v4 |
22 | g.37084754G= | CA2404176099 | TMPRSS6 | c.1059C= (p.Pro353=) c.1086C= (p.Pro362=) c.72C= (p.Pro24=) c.627C= (p.Pro209=) | |
22 | g.37084754G>T | CA10215799 | TMPRSS6 | c.1059C>A (p.Pro353=) c.1086C>A (p.Pro362=) c.72C>A (p.Pro24=) c.627C>A (p.Pro209=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.37084755G>A | CA324060493 | TMPRSS6 | c.1058C>T (p.Pro353Leu) c.1085C>T (p.Pro362Leu) c.71C>T (p.Pro24Leu) c.626C>T (p.Pro209Leu) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.37084755G>C | CA411424690 | TMPRSS6 | c.1058C>G (p.Pro353Arg) c.1085C>G (p.Pro362Arg) c.71C>G (p.Pro24Arg) c.626C>G (p.Pro209Arg) | gnomAD v4 |
22 | g.37084755G= | CA2404176100 | TMPRSS6 | c.1058C= (p.Pro353=) c.1085C= (p.Pro362=) c.71C= (p.Pro24=) c.626C= (p.Pro209=) | |
22 | g.37084755G>T | CA411424691 | TMPRSS6 | c.1058C>A (p.Pro353His) c.1085C>A (p.Pro362His) c.71C>A (p.Pro24His) c.626C>A (p.Pro209His) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.37084756G>A | CA411424692 | TMPRSS6 | c.1057C>T (p.Pro353Ser) c.1084C>T (p.Pro362Ser) c.70C>T (p.Pro24Ser) c.625C>T (p.Pro209Ser) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.37084756G>C | CA411424693 | TMPRSS6 | c.1057C>G (p.Pro353Ala) c.1084C>G (p.Pro362Ala) c.70C>G (p.Pro24Ala) c.625C>G (p.Pro209Ala) | |
22 | g.37084756G= | CA2404176101 | TMPRSS6 | c.1057C= (p.Pro353=) c.1084C= (p.Pro362=) c.70C= (p.Pro24=) c.625C= (p.Pro209=) | |
22 | g.37084756G>T | CA411424694 | TMPRSS6 | c.1057C>A (p.Pro353Thr) c.1084C>A (p.Pro362Thr) c.70C>A (p.Pro24Thr) c.625C>A (p.Pro209Thr) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.37084757C>A | CA514486527 | TMPRSS6 | c.1056G>T (p.Ser352=) c.1083G>T (p.Ser361=) c.69G>T (p.Ser23=) c.624G>T (p.Ser208=) | gnomAD v4 |
22 | g.37084757C= | CA2404176102 | TMPRSS6 | c.1056G= (p.Ser352=) c.1083G= (p.Ser361=) c.69G= (p.Ser23=) c.624G= (p.Ser208=) | |
22 | g.37084757C>G | CA514486526 | TMPRSS6 | c.1056G>C (p.Ser352=) c.1083G>C (p.Ser361=) c.69G>C (p.Ser23=) c.624G>C (p.Ser208=) | dbSNP |
22 | g.37084757C>T | CA10215800 | TMPRSS6 | c.1056G>A (p.Ser352=) c.1083G>A (p.Ser361=) c.69G>A (p.Ser23=) c.624G>A (p.Ser208=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.37084758G>A | CA10215801 | TMPRSS6 | c.1055C>T (p.Ser352Leu) c.1082C>T (p.Ser361Leu) c.68C>T (p.Ser23Leu) c.623C>T (p.Ser208Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
22 | g.37084758G>C | CA411424703 | TMPRSS6 | c.1055C>G (p.Ser352Trp) c.1082C>G (p.Ser361Trp) c.68C>G (p.Ser23Trp) c.623C>G (p.Ser208Trp) | |
22 | g.37084758G= | CA2404176103 | TMPRSS6 | c.1055C= (p.Ser352=) c.1082C= (p.Ser361=) c.68C= (p.Ser23=) c.623C= (p.Ser208=) | |
22 | g.37084758G>T | CA411424705 | TMPRSS6 | c.1055C>A (p.Ser352Ter) c.1082C>A (p.Ser361Ter) c.68C>A (p.Ser23Ter) c.623C>A (p.Ser208Ter) | ClinVar gnomAD v4 |
22 | g.37084759A>C | CA411424707 | TMPRSS6 | c.1054T>G (p.Ser352Ala) c.1081T>G (p.Ser361Ala) c.67T>G (p.Ser23Ala) c.622T>G (p.Ser208Ala) | |
22 | g.37084759A>G | CA411424708 | TMPRSS6 | c.1054T>C (p.Ser352Pro) c.1081T>C (p.Ser361Pro) c.67T>C (p.Ser23Pro) c.622T>C (p.Ser208Pro) | |
22 | g.37084759A>T | CA411424706 | TMPRSS6 | c.1054T>A (p.Ser352Thr) c.1081T>A (p.Ser361Thr) c.67T>A (p.Ser23Thr) c.622T>A (p.Ser208Thr) | gnomAD v4 |
22 | g.37084760G>A | CA514486531 | TMPRSS6 | c.1053C>T (p.Tyr351=) c.1080C>T (p.Tyr360=) c.66C>T (p.Tyr22=) c.621C>T (p.Tyr207=) | gnomAD v4 |
22 | g.37084760G>C | CA411424710 | TMPRSS6 | c.1053C>G (p.Tyr351Ter) c.1080C>G (p.Tyr360Ter) c.66C>G (p.Tyr22Ter) c.621C>G (p.Tyr207Ter) | gnomAD v4 |
22 | g.37084760G= | CA2404176104 | TMPRSS6 | c.1053C= (p.Tyr351=) c.1080C= (p.Tyr360=) c.66C= (p.Tyr22=) c.621C= (p.Tyr207=) | |
22 | g.37084760G>T | CA411424711 | TMPRSS6 | c.1053C>A (p.Tyr351Ter) c.1080C>A (p.Tyr360Ter) c.66C>A (p.Tyr22Ter) c.621C>A (p.Tyr207Ter) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.37084761T>A | CA411424713 | TMPRSS6 | c.1052A>T (p.Tyr351Phe) c.1079A>T (p.Tyr360Phe) c.65A>T (p.Tyr22Phe) c.620A>T (p.Tyr207Phe) | |
22 | g.37084761T>C | CA411424714 | TMPRSS6 | c.1052A>G (p.Tyr351Cys) c.1079A>G (p.Tyr360Cys) c.65A>G (p.Tyr22Cys) c.620A>G (p.Tyr207Cys) | gnomAD v4 |
22 | g.37084761T>G | CA411424715 | TMPRSS6 | c.1052A>C (p.Tyr351Ser) c.1079A>C (p.Tyr360Ser) c.65A>C (p.Tyr22Ser) c.620A>C (p.Tyr207Ser) | |
22 | g.37084762del | CA2656466843 | TMPRSS6 | c.1051del (p.Tyr351ThrfsTer29) c.1078del (p.Tyr360ThrfsTer29) c.64del (p.Tyr22ThrfsTer29) c.619del (p.Tyr207ThrfsTer29) | gnomAD v4 |
22 | g.37084762A= | CA2404176105 | TMPRSS6 | c.1051T= (p.Tyr351=) c.1078T= (p.Tyr360=) c.64T= (p.Tyr22=) c.619T= (p.Tyr207=) | |
22 | g.37084762A>C | CA411424717 | TMPRSS6 | c.1051T>G (p.Tyr351Asp) c.1078T>G (p.Tyr360Asp) c.64T>G (p.Tyr22Asp) c.619T>G (p.Tyr207Asp) | |
22 | g.37084762A>G | CA411424718 | TMPRSS6 | c.1051T>C (p.Tyr351His) c.1078T>C (p.Tyr360His) c.64T>C (p.Tyr22His) c.619T>C (p.Tyr207His) | dbSNP gnomAD v2 |
22 | g.37084762A>T | CA411424720 | TMPRSS6 | c.1051T>A (p.Tyr351Asn) c.1078T>A (p.Tyr360Asn) c.64T>A (p.Tyr22Asn) c.619T>A (p.Tyr207Asn) | gnomAD v4 |
22 | g.37084763G>A | CA324060505 | TMPRSS6 | c.1050C>T (p.Tyr350=) c.1077C>T (p.Tyr359=) c.63C>T (p.Tyr21=) c.618C>T (p.Tyr206=) | dbSNP gnomAD v4 |
22 | g.37084763G>C | CA411424722 | TMPRSS6 | c.1050C>G (p.Tyr350Ter) c.1077C>G (p.Tyr359Ter) c.63C>G (p.Tyr21Ter) c.618C>G (p.Tyr206Ter) | |
22 | g.37084763G= | CA2404176106 | TMPRSS6 | c.1050C= (p.Tyr350=) c.1077C= (p.Tyr359=) c.63C= (p.Tyr21=) c.618C= (p.Tyr206=) | |
22 | g.37084763G>T | CA411424724 | TMPRSS6 | c.1050C>A (p.Tyr350Ter) c.1077C>A (p.Tyr359Ter) c.63C>A (p.Tyr21Ter) c.618C>A (p.Tyr206Ter) | gnomAD v4 |
22 | g.37084764T>A | CA411424725 | TMPRSS6 | c.1049A>T (p.Tyr350Phe) c.1076A>T (p.Tyr359Phe) c.62A>T (p.Tyr21Phe) c.617A>T (p.Tyr206Phe) | gnomAD v4 |
22 | g.37084764T>C | CA411424726 | TMPRSS6 | c.1049A>G (p.Tyr350Cys) c.1076A>G (p.Tyr359Cys) c.62A>G (p.Tyr21Cys) c.617A>G (p.Tyr206Cys) | gnomAD v4 |
22 | g.37084764T>G | CA411424727 | TMPRSS6 | c.1049A>C (p.Tyr350Ser) c.1076A>C (p.Tyr359Ser) c.62A>C (p.Tyr21Ser) c.617A>C (p.Tyr206Ser) | |
22 | g.37084765A>C | CA411424733 | TMPRSS6 | c.1048T>G (p.Tyr350Asp) c.1075T>G (p.Tyr359Asp) c.61T>G (p.Tyr21Asp) c.616T>G (p.Tyr206Asp) | |
22 | g.37084765A>G | CA411424729 | TMPRSS6 | c.1048T>C (p.Tyr350His) c.1075T>C (p.Tyr359His) c.61T>C (p.Tyr21His) c.616T>C (p.Tyr206His) | gnomAD v4 |
22 | g.37084765A>T | CA411424731 | TMPRSS6 | c.1048T>A (p.Tyr350Asn) c.1075T>A (p.Tyr359Asn) c.61T>A (p.Tyr21Asn) c.616T>A (p.Tyr206Asn) | |
22 | g.37084766G>A | CA514486537 | TMPRSS6 | c.1047C>T (p.Ser349=) c.1074C>T (p.Ser358=) c.60C>T (p.Ser20=) c.615C>T (p.Ser205=) | dbSNP gnomAD v2 |
22 | g.37084766G>C | CA411424735 | TMPRSS6 | c.1047C>G (p.Ser349Arg) c.1074C>G (p.Ser358Arg) c.60C>G (p.Ser20Arg) c.615C>G (p.Ser205Arg) | |
22 | g.37084766G= | CA2404176107 | TMPRSS6 | c.1047C= (p.Ser349=) c.1074C= (p.Ser358=) c.60C= (p.Ser20=) c.615C= (p.Ser205=) | |
22 | g.37084766G>T | CA10215802 | TMPRSS6 | c.1047C>A (p.Ser349Arg) c.1074C>A (p.Ser358Arg) c.60C>A (p.Ser20Arg) c.615C>A (p.Ser205Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.37084767C>A | CA411424738 | TMPRSS6 | c.1046G>T (p.Ser349Ile) c.1073G>T (p.Ser358Ile) c.59G>T (p.Ser20Ile) c.614G>T (p.Ser205Ile) | gnomAD v4 |
22 | g.37084767C= | CA2404176108 | TMPRSS6 | c.1046G= (p.Ser349=) c.1073G= (p.Ser358=) c.59G= (p.Ser20=) c.614G= (p.Ser205=) | |
22 | g.37084767C>G | CA411424740 | TMPRSS6 | c.1046G>C (p.Ser349Thr) c.1073G>C (p.Ser358Thr) c.59G>C (p.Ser20Thr) c.614G>C (p.Ser205Thr) | dbSNP |
22 | g.37084767C>T | CA411424741 | TMPRSS6 | c.1046G>A (p.Ser349Asn) c.1073G>A (p.Ser358Asn) c.59G>A (p.Ser20Asn) c.614G>A (p.Ser205Asn) | dbSNP gnomAD v4 |
22 | g.37084768T>A | CA411424742 | TMPRSS6 | c.1045A>T (p.Ser349Cys) c.1072A>T (p.Ser358Cys) c.58A>T (p.Ser20Cys) c.613A>T (p.Ser205Cys) | gnomAD v4 |
22 | g.37084768T>C | CA411424744 | TMPRSS6 | c.1045A>G (p.Ser349Gly) c.1072A>G (p.Ser358Gly) c.58A>G (p.Ser20Gly) c.613A>G (p.Ser205Gly) | gnomAD v4 |
22 | g.37084768T>G | CA411424746 | TMPRSS6 | c.1045A>C (p.Ser349Arg) c.1072A>C (p.Ser358Arg) c.58A>C (p.Ser20Arg) c.613A>C (p.Ser205Arg) | |
22 | g.37084769G>A | CA514486553 | TMPRSS6 | c.1044C>T (p.Pro348=) c.1071C>T (p.Pro357=) c.57C>T (p.Pro19=) c.612C>T (p.Pro204=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.37084769G>C | CA514486555 | TMPRSS6 | c.1044C>G (p.Pro348=) c.1071C>G (p.Pro357=) c.57C>G (p.Pro19=) c.612C>G (p.Pro204=) | |
22 | g.37084769G= | CA2404176109 | TMPRSS6 | c.1044C= (p.Pro348=) c.1071C= (p.Pro357=) c.57C= (p.Pro19=) c.612C= (p.Pro204=) | |
22 | g.37084769G>T | CA514486557 | TMPRSS6 | c.1044C>A (p.Pro348=) c.1071C>A (p.Pro357=) c.57C>A (p.Pro19=) c.612C>A (p.Pro204=) | gnomAD v4 |
22 | g.37084772del | CA2656466844 | TMPRSS6 | c.1044del (p.Ser349AlafsTer?) c.1071del (p.Ser358AlafsTer?) c.57del (p.Ser20AlafsTer?) c.612del (p.Ser205AlafsTer?) | gnomAD v4 |
22 | g.37084770G>A | CA411424748 | TMPRSS6 | c.1043C>T (p.Pro348Leu) c.1070C>T (p.Pro357Leu) c.56C>T (p.Pro19Leu) c.611C>T (p.Pro204Leu) | |
22 | g.37084770G>C | CA324060513 | TMPRSS6 | c.1043C>G (p.Pro348Arg) c.1070C>G (p.Pro357Arg) c.56C>G (p.Pro19Arg) c.611C>G (p.Pro204Arg) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.37084770G= | CA2404176110 | TMPRSS6 | c.1043C= (p.Pro348=) c.1070C= (p.Pro357=) c.56C= (p.Pro19=) c.611C= (p.Pro204=) | |
22 | g.37084770G>T | CA411424750 | TMPRSS6 | c.1043C>A (p.Pro348His) c.1070C>A (p.Pro357His) c.56C>A (p.Pro19His) c.611C>A (p.Pro204His) | gnomAD v4 |
22 | g.37084771G>A | CA411424751 | TMPRSS6 | c.1042C>T (p.Pro348Ser) c.1069C>T (p.Pro357Ser) c.55C>T (p.Pro19Ser) c.610C>T (p.Pro204Ser) | gnomAD v4 |
22 | g.37084771G>C | CA411424754 | TMPRSS6 | c.1042C>G (p.Pro348Ala) c.1069C>G (p.Pro357Ala) c.55C>G (p.Pro19Ala) c.610C>G (p.Pro204Ala) | |
22 | g.37084771G>T | CA411424753 | TMPRSS6 | c.1042C>A (p.Pro348Thr) c.1069C>A (p.Pro357Thr) c.55C>A (p.Pro19Thr) c.610C>A (p.Pro204Thr) | gnomAD v4 |
22 | g.37084772G>A | CA514486568 | TMPRSS6 | c.1041C>T (p.Phe347=) c.1068C>T (p.Phe356=) c.54C>T (p.Phe18=) c.609C>T (p.Phe203=) | |
22 | g.37084772G>C | CA411424756 | TMPRSS6 | c.1041C>G (p.Phe347Leu) c.1068C>G (p.Phe356Leu) c.54C>G (p.Phe18Leu) c.609C>G (p.Phe203Leu) | gnomAD v4 |
22 | g.37084772G>T | CA411424758 | TMPRSS6 | c.1041C>A (p.Phe347Leu) c.1068C>A (p.Phe356Leu) c.54C>A (p.Phe18Leu) c.609C>A (p.Phe203Leu) | gnomAD v4 |
22 | g.37084773A>C | CA411424760 | TMPRSS6 | c.1040T>G (p.Phe347Cys) c.1067T>G (p.Phe356Cys) c.53T>G (p.Phe18Cys) c.608T>G (p.Phe203Cys) | |
22 | g.37084773A>G | CA411424762 | TMPRSS6 | c.1040T>C (p.Phe347Ser) c.1067T>C (p.Phe356Ser) c.53T>C (p.Phe18Ser) c.608T>C (p.Phe203Ser) | gnomAD v4 |
22 | g.37084773A>T | CA411424761 | TMPRSS6 | c.1040T>A (p.Phe347Tyr) c.1067T>A (p.Phe356Tyr) c.53T>A (p.Phe18Tyr) c.608T>A (p.Phe203Tyr) | |
22 | g.37084774del | CA2656466845 | TMPRSS6 | c.1040del (p.Phe347SerfsTer?) c.1067del (p.Phe356SerfsTer?) c.53del (p.Phe18SerfsTer?) c.608del (p.Phe203SerfsTer?) | gnomAD v4 |
22 | g.37084774A>C | CA411424764 | TMPRSS6 | c.1039T>G (p.Phe347Val) c.1066T>G (p.Phe356Val) c.52T>G (p.Phe18Val) c.607T>G (p.Phe203Val) | |
22 | g.37084774A>G | CA411424768 | TMPRSS6 | c.1039T>C (p.Phe347Leu) c.1066T>C (p.Phe356Leu) c.52T>C (p.Phe18Leu) c.607T>C (p.Phe203Leu) | |
22 | g.37084774A>T | CA411424766 | TMPRSS6 | c.1039T>A (p.Phe347Ile) c.1066T>A (p.Phe356Ile) c.52T>A (p.Phe18Ile) c.607T>A (p.Phe203Ile) | gnomAD v4 |
22 | g.37084775G>A | CA514486585 | TMPRSS6 | c.1038C>T (p.Tyr346=) c.1065C>T (p.Tyr355=) c.51C>T (p.Tyr17=) c.606C>T (p.Tyr202=) | gnomAD v4 |
22 | g.37084775G>C | CA411424769 | TMPRSS6 | c.1038C>G (p.Tyr346Ter) c.1065C>G (p.Tyr355Ter) c.51C>G (p.Tyr17Ter) c.606C>G (p.Tyr202Ter) | |
22 | g.37084775G= | CA2404176111 | TMPRSS6 | c.1038C= (p.Tyr346=) c.1065C= (p.Tyr355=) c.51C= (p.Tyr17=) c.606C= (p.Tyr202=) | |
22 | g.37084775G>T | CA114991 | TMPRSS6 | c.1038C>A (p.Tyr346Ter) c.1065C>A (p.Tyr355Ter) c.51C>A (p.Tyr17Ter) c.606C>A (p.Tyr202Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |