Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.50543806G>C | CA839353230 | DDC | c.201+79C>G (n.201+79C>G) c.98+79C>G | dbSNP |
7 | g.50543806G= | CA1706650719 | DDC | c.201+79C= (n.201+79C=) c.98+79C= | |
7 | g.50543806G>T | CA2682813252 | DDC | c.201+79C>A (n.201+79C>A) c.98+79C>A | gnomAD v4 |
7 | g.50543807T>C | CA2714495498 | DDC | c.201+78A>G (n.201+78A>G) c.98+78A>G | dbSNP |
7 | g.50543808A= | CA1706650722 | DDC | c.201+77T= (n.201+77T=) c.98+77T= | |
7 | g.50543808A>G | CA158234558 | DDC | c.201+77T>C (n.201+77T>C) c.98+77T>C | dbSNP gnomAD v3 gnomAD v4 |
7 | g.50543808_50543809insG | CA1706650728 | DDC | c.201+76_201+77insC (n.201+76_201+77insC) c.98+76_98+77insC | dbSNP |
7 | g.50543809T>C | CA2714258791 | DDC | c.201+76A>G (n.201+76A>G) c.98+76A>G | dbSNP |
7 | g.50543809T>G | CA1706650725 | DDC | c.201+76A>C (n.201+76A>C) c.98+76A>C | dbSNP |
7 | g.50543809T= | CA1706650729 | DDC | c.201+76A= (n.201+76A=) c.98+76A= | |
7 | g.50543810G>A | CA1706650733 | DDC | c.201+75C>T (n.201+75C>T) c.98+75C>T | dbSNP gnomAD v4 |
7 | g.50543810G= | CA1706650732 | DDC | c.201+75C= (n.201+75C=) c.98+75C= | |
7 | g.50543810G>T | CA2682813253 | DDC | c.201+75C>A (n.201+75C>A) c.98+75C>A | gnomAD v4 |
7 | g.50543812G>A | CA651109402 | DDC | c.201+73C>T (n.201+73C>T) c.98+73C>T | COSMIC |
7 | g.50543812G>C | CA2682813254 | DDC | c.201+73C>G (n.201+73C>G) c.98+73C>G | gnomAD v4 |
7 | g.50543812G>T | CA2578891635 | DDC | c.201+73C>A (n.201+73C>A) c.98+73C>A | gnomAD v4 |
7 | g.50543813A= | CA1706650735 | DDC | c.201+72T= (n.201+72T=) c.98+72T= | |
7 | g.50543813A>G | CA158234559 | DDC | c.201+72T>C (n.201+72T>C) c.98+72T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.50543813A>T | CA2839289268 | DDC | c.201+72T>A (n.201+72T>A) c.98+72T>A | |
7 | g.50543816T>C | CA2682813255 | DDC | c.201+69A>G (n.201+69A>G) c.98+69A>G | gnomAD v4 |
7 | g.50543817G>A | CA2682813256 | DDC | c.201+68C>T (n.201+68C>T) c.98+68C>T | gnomAD v4 |
7 | g.50543817G>T | CA2578891636 | DDC | c.201+68C>A (n.201+68C>A) c.98+68C>A | gnomAD v4 |
7 | g.50543818C>A | CA2682813257 | DDC | c.201+67G>T (n.201+67G>T) c.98+67G>T | gnomAD v4 |
7 | g.50543819T>A | CA839353236 | DDC | c.201+66A>T (n.201+66A>T) c.98+66A>T | dbSNP gnomAD v3 gnomAD v4 |
7 | g.50543819T= | CA1706650737 | DDC | c.201+66A= (n.201+66A=) c.98+66A= | |
7 | g.50543820C>A | CA2578891637 | DDC | c.201+65G>T (n.201+65G>T) c.98+65G>T | |
7 | g.50543820C= | CA1706650741 | DDC | c.201+65G= (n.201+65G=) c.98+65G= | |
7 | g.50543820C>T | CA1706650742 | DDC | c.201+65G>A (n.201+65G>A) c.98+65G>A | dbSNP gnomAD v4 |
7 | g.50543822G>T | CA2682813258 | DDC | c.201+63C>A (n.201+63C>A) c.98+63C>A | gnomAD v4 |
7 | g.50543823A>G | CA2578891638 | DDC | c.201+62T>C (n.201+62T>C) c.98+62T>C | gnomAD v4 |
7 | g.50543824G>A | CA1706650745 | DDC | c.201+61C>T (n.201+61C>T) c.98+61C>T | dbSNP gnomAD v4 |
7 | g.50543824G= | CA1706650744 | DDC | c.201+61C= (n.201+61C=) c.98+61C= | |
7 | g.50543824G>T | CA2682813259 | DDC | c.201+61C>A (n.201+61C>A) c.98+61C>A | gnomAD v4 |
7 | g.50543825C>A | CA2682813260 | DDC | c.201+60G>T (n.201+60G>T) c.98+60G>T | gnomAD v4 |
7 | g.50543825C>T | CA2682813261 | DDC | c.201+60G>A (n.201+60G>A) c.98+60G>A | gnomAD v4 |
7 | g.50543828A>G | CA2682813262 | DDC | c.201+57T>C (n.201+57T>C) c.98+57T>C | gnomAD v4 |
7 | g.50543829G>T | CA2682813263 | DDC | c.201+56C>A (n.201+56C>A) c.98+56C>A | gnomAD v4 |
7 | g.50543830T>C | CA839353238 | DDC | c.201+55A>G (n.201+55A>G) c.98+55A>G | dbSNP |
7 | g.50543830T= | CA1706650748 | DDC | c.201+55A= (n.201+55A=) c.98+55A= | |
7 | g.50543833G>A | CA158234560 | DDC | c.201+52C>T (n.201+52C>T) c.98+52C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.50543833G= | CA1706650751 | DDC | c.201+52C= (n.201+52C=) c.98+52C= | |
7 | g.50543833G>T | CA2578891639 | DDC | c.201+52C>A (n.201+52C>A) c.98+52C>A | gnomAD v4 |
7 | g.50543834T>C | CA2682813264 | DDC | c.201+51A>G (n.201+51A>G) c.98+51A>G | gnomAD v4 |
7 | g.50543834T>G | CA2714495502 | DDC | c.201+51A>C (n.201+51A>C) c.98+51A>C | dbSNP |
7 | g.50543835G>T | CA2682813265 | DDC | c.201+50C>A (n.201+50C>A) c.98+50C>A | gnomAD v4 |
7 | g.50543836C>A | CA2682813266 | DDC | c.201+49G>T (n.201+49G>T) c.98+49G>T | gnomAD v4 |
7 | g.50543836C= | CA1706650753 | DDC | c.201+49G= (n.201+49G=) c.98+49G= | |
7 | g.50543836C>T | CA4262458 | DDC | c.201+49G>A (n.201+49G>A) c.98+49G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.50543838A= | CA1706650755 | DDC | c.201+47T= (n.201+47T=) c.98+47T= | |
7 | g.50543838A>G | CA158234561 | DDC | c.201+47T>C (n.201+47T>C) c.98+47T>C | dbSNP gnomAD v3 gnomAD v4 |
7 | g.50543839T>C | CA1706650760 | DDC | c.201+46A>G (n.201+46A>G) c.98+46A>G | dbSNP gnomAD v4 |
7 | g.50543839T= | CA1706650758 | DDC | c.201+46A= (n.201+46A=) c.98+46A= | |
7 | g.50543840G>A | CA4262459 | DDC | c.201+45C>T (n.201+45C>T) c.98+45C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.50543840G= | CA1706650762 | DDC | c.201+45C= (n.201+45C=) c.98+45C= | |
7 | g.50543840G>T | CA2682813267 | DDC | c.201+45C>A (n.201+45C>A) c.98+45C>A | gnomAD v4 |
7 | g.50543842G>T | CA2525128767 | DDC | c.201+43C>A (n.201+43C>A) c.98+43C>A | gnomAD v4 |
7 | g.50543843A= | CA1706650766 | DDC | c.201+42T= (n.201+42T=) c.98+42T= | |
7 | g.50543843A>C | CA4262460 | DDC | c.201+42T>G (n.201+42T>G) c.98+42T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.50543843A>T | CA574299006 | DDC | c.201+42T>A (n.201+42T>A) c.98+42T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.50543844G>A | CA4262461 | DDC | c.201+41C>T (n.201+41C>T) c.98+41C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.50543844G= | CA1706650770 | DDC | c.201+41C= (n.201+41C=) c.98+41C= | |
7 | g.50543844G>T | CA2682813268 | DDC | c.201+41C>A (n.201+41C>A) c.98+41C>A | gnomAD v4 |
7 | g.50543846T>C | CA4262462 | DDC | c.201+39A>G (n.201+39A>G) c.98+39A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.50543846T= | CA1706650772 | DDC | c.201+39A= (n.201+39A=) c.98+39A= | |
7 | g.50543847C>A | CA1101206598 | DDC | c.201+38G>T (n.201+38G>T) c.98+38G>T | dbSNP gnomAD v3 gnomAD v4 |
7 | g.50543847C= | CA1706650774 | DDC | c.201+38G= (n.201+38G=) c.98+38G= | |
7 | g.50543847C>G | CA2714258792 | DDC | c.201+38G>C (n.201+38G>C) c.98+38G>C | dbSNP |
7 | g.50543848T>A | CA2844639958 | DDC | c.201+37A>T (n.201+37A>T) c.98+37A>T | |
7 | g.50543848T>C | CA4262463 | DDC | c.201+37A>G (n.201+37A>G) c.98+37A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.50543848T>G | CA2844639957 | DDC | c.201+37A>C (n.201+37A>C) c.98+37A>C | |
7 | g.50543848T= | CA1706650776 | DDC | c.201+37A= (n.201+37A=) c.98+37A= | |
7 | g.50543850G>C | CA2682813269 | DDC | c.201+35C>G (n.201+35C>G) c.98+35C>G | gnomAD v4 |
7 | g.50543850G= | CA1706650777 | DDC | c.201+35C= (n.201+35C=) c.98+35C= | |
7 | g.50543850G>T | CA4262464 | DDC | c.201+35C>A (n.201+35C>A) c.98+35C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.50543853del | CA2682813270 | DDC | c.201+34del (n.201+34del) c.98+34del | gnomAD v4 |
7 | g.50543852C>A | CA2682813271 | DDC | c.201+33G>T (n.201+33G>T) c.98+33G>T | gnomAD v4 |
7 | g.50543853C= | CA1706650780 | DDC | c.201+32G= (n.201+32G=) c.98+32G= | |
7 | g.50543853C>T | CA4262465 | DDC | c.201+32G>A (n.201+32G>A) c.98+32G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.50543855_50543882del | CA2682813272 | DDC | c.201+4_201+31del (n.201+4_201+31del) c.98+4_98+31del | gnomAD v4 |
7 | g.50543857T>C | CA1101206605 | DDC | c.201+28A>G (n.201+28A>G) c.98+28A>G | dbSNP gnomAD v3 gnomAD v4 |
7 | g.50543857T= | CA1706650782 | DDC | c.201+28A= (n.201+28A=) c.98+28A= | |
7 | g.50543858G>C | CA574695443 | DDC | c.201+27C>G (n.201+27C>G) c.98+27C>G | dbSNP gnomAD v2 gnomAD v4 |
7 | g.50543858G= | CA1706650784 | DDC | c.201+27C= (n.201+27C=) c.98+27C= | |
7 | g.50543859T>C | CA1706650788 | DDC | c.201+26A>G (n.201+26A>G) c.98+26A>G | dbSNP |
7 | g.50543859T= | CA1706650787 | DDC | c.201+26A= (n.201+26A=) c.98+26A= | |
7 | g.50543862T>C | CA574695444 | DDC | c.201+23A>G (n.201+23A>G) c.98+23A>G | dbSNP gnomAD v2 gnomAD v4 |
7 | g.50543862T= | CA1706650790 | DDC | c.201+23A= (n.201+23A=) c.98+23A= | |
7 | g.50543863C>T | CA2682813273 | DDC | c.201+22G>A (n.201+22G>A) c.98+22G>A | gnomAD v4 |
7 | g.50543864T>C | CA2682813274 | DDC | c.201+21A>G (n.201+21A>G) c.98+21A>G | gnomAD v4 |
7 | g.50543865G>A | CA574695445 | DDC | c.201+20C>T (n.201+20C>T) c.98+20C>T | dbSNP gnomAD v2 gnomAD v4 |
7 | g.50543865G= | CA1706650792 | DDC | c.201+20C= (n.201+20C=) c.98+20C= | |
7 | g.50543865G>T | CA2578891648 | DDC | c.201+20C>A (n.201+20C>A) c.98+20C>A | gnomAD v4 |
7 | g.50543866A>G | CA2682813275 | DDC | c.201+19T>C (n.201+19T>C) c.98+19T>C | gnomAD v4 |
7 | g.50543868C>A | CA2682813276 | DDC | c.201+17G>T (n.201+17G>T) c.98+17G>T | gnomAD v4 |
7 | g.50543868C= | CA1706650795 | DDC | c.201+17G= (n.201+17G=) c.98+17G= | |
7 | g.50543868C>G | CA4262466 | DDC | c.201+17G>C (n.201+17G>C) c.98+17G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.50543868C>T | CA2682813277 | DDC | c.201+17G>A (n.201+17G>A) c.98+17G>A | gnomAD v4 |
7 | g.50543870dup | CA2682813278 | DDC | c.201+16dup (n.201+16dup) c.98+16dup | gnomAD v4 |
7 | g.50543870T>G | CA2682813279 | DDC | c.201+15A>C (n.201+15A>C) c.98+15A>C | gnomAD v4 |
7 | g.50543871G>C | CA2682813280 | DDC | c.201+14C>G (n.201+14C>G) c.98+14C>G | gnomAD v4 |
7 | g.50543871G= | CA1706650798 | DDC | c.201+14C= (n.201+14C=) c.98+14C= | |
7 | g.50543871G>T | CA1101206610 | DDC | c.201+14C>A (n.201+14C>A) c.98+14C>A | dbSNP gnomAD v3 gnomAD v4 |
7 | g.50543872G>T | CA2682813281 | DDC | c.201+13C>A (n.201+13C>A) c.98+13C>A | gnomAD v4 |
7 | g.50543874T>C | CA839353255 | DDC | c.201+11A>G (n.201+11A>G) c.98+11A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.50543874T= | CA1706650800 | DDC | c.201+11A= (n.201+11A=) c.98+11A= | |
7 | g.50543877A= | CA1706650806 | DDC | c.201+8T= (n.201+8T=) c.98+8T= | |
7 | g.50543877A>C | CA4262467 | DDC | c.201+8T>G (n.201+8T>G) c.98+8T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.50543877A>G | CA4262468 | DDC | c.201+8T>C (n.201+8T>C) c.98+8T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.50543878C>A | CA574695446 | DDC | c.201+7G>T (n.201+7G>T) c.98+7G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.50543878C= | CA1706650811 | DDC | c.201+7G= (n.201+7G=) c.98+7G= | |
7 | g.50543878C>T | CA1101206615 | DDC | c.201+7G>A (n.201+7G>A) c.98+7G>A | dbSNP gnomAD v3 gnomAD v4 |
7 | g.50543878_50543882delinsCACTT | CA1706650809 | DDC | c.201+3_201+7delinsAAGTG (n.201+3_201+7delinsAAGTG) c.98+3_98+7delinsAAGTG | |
7 | g.50543879A>C | CA2682813282 | DDC | c.201+6T>G (n.201+6T>G) c.98+6T>G | gnomAD v4 |
7 | g.50543881_50543884del | CA574695447 | DDC | c.201+3_201+6del (n.201+3_201+6del) c.98+3_98+6del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.50543880C= | CA1706650812 | DDC | c.201+5G= (n.201+5G=) c.98+5G= | |
7 | g.50543880C>G | CA1706650813 | DDC | c.201+5G>C (n.201+5G>C) c.98+5G>C | ClinVar dbSNP gnomAD v4 |
7 | g.50543880C>T | CA2682813283 | DDC | c.201+5G>A (n.201+5G>A) c.98+5G>A | gnomAD v4 |
7 | g.50543881T>C | CA1706650815 | DDC | c.201+4A>G (n.201+4A>G) c.98+4A>G | ClinVar dbSNP gnomAD v4 |
7 | g.50543881T= | CA1706650814 | DDC | c.201+4A= (n.201+4A=) c.98+4A= | |
7 | g.50543883A= | CA1706650817 | DDC | c.201+2T= (n.201+2T=) c.98+2T= | |
7 | g.50543883A>C | CA367531216 | DDC | c.201+2T>G (n.201+2T>G) c.98+2T>G | |
7 | g.50543883A>G | CA4262469 | DDC | c.201+2T>C (n.201+2T>C) c.98+2T>C | dbSNP ExAC |
7 | g.50543883A>T | CA367531219 | DDC | c.201+2T>A (n.201+2T>A) c.98+2T>A | |
7 | g.50543884C>A | CA367531223 | DDC | c.201+1G>T (n.201+1G>T) c.98+1G>T | |
7 | g.50543884C= | CA1706650820 | DDC | c.201+1G= (n.201+1G=) c.98+1G= | |
7 | g.50543884C>G | CA367531226 | DDC | c.201+1G>C (n.201+1G>C) c.98+1G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.50543884C>T | CA367531228 | DDC | c.201+1G>A (n.201+1G>A) c.98+1G>A | |
7 | g.50543887del | CA2682813284 | DDC | c.201+1del c.98+1del | gnomAD v4 |
7 | g.50543885C>A | CA454943281 | DDC | c.201G>T (p.Gly67=) c.98G>T | |
7 | g.50543885C= | CA1706650822 | DDC | c.201G= (p.Gly67=) c.98G= | |
7 | g.50543885C>G | CA454943282 | DDC | c.201G>C (p.Gly67=) c.98G>C | |
7 | g.50543885C>T | CA4262470 | DDC | c.201G>A (p.Gly67=) c.98G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.50543886C>A | CA367531234 | DDC | c.200G>T (p.Gly67Val) c.97G>T | gnomAD v4 |
7 | g.50543886C= | CA1706650825 | DDC | c.200G= (p.Gly67=) c.97G= | |
7 | g.50543886C>G | CA367531235 | DDC | c.200G>C (p.Gly67Ala) c.97G>C | |
7 | g.50543886C>T | CA4262471 | DDC | c.200G>A (p.Gly67Glu) c.97G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.50543887C>A | CA367531243 | DDC | c.199G>T (p.Gly67Trp) c.96G>T | |
7 | g.50543887C= | CA1706650829 | DDC | c.199G= (p.Gly67=) c.96G= | |
7 | g.50543887C>G | CA367531244 | DDC | c.199G>C (p.Gly67Arg) c.96G>C | |
7 | g.50543887C>T | CA367531248 | DDC | c.199G>A (p.Gly67Arg) c.96G>A | dbSNP |
7 | g.50543888del | CA2838563780 | DDC | c.198del (p.Val68Ter) c.198del (p.Gly68GlufsTer18) c.95del c.198del (p.Ala68ArgfsTer12) | |
7 | g.50543888A>C | CA454943283 | DDC | c.198T>G (p.Pro66=) c.95T>G | |
7 | g.50543888A>G | CA454943285 | DDC | c.198T>C (p.Pro66=) c.95T>C | |
7 | g.50543888A>T | CA454943284 | DDC | c.198T>A (p.Pro66=) c.95T>A | |
7 | g.50543889G>A | CA367531251 | DDC | c.197C>T (p.Pro66Leu) c.94C>T | |
7 | g.50543889G>C | CA367531254 | DDC | c.197C>G (p.Pro66Arg) c.94C>G | dbSNP gnomAD v4 |
7 | g.50543889G= | CA1706650831 | DDC | c.197C= (p.Pro66=) c.94C= | |
7 | g.50543889G>T | CA367531256 | DDC | c.197C>A (p.Pro66His) c.94C>A | |
7 | g.50543890G>A | CA4262472 | DDC | c.196C>T (p.Pro66Ser) c.93C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.50543890G>C | CA367531262 | DDC | c.196C>G (p.Pro66Ala) c.93C>G | |
7 | g.50543890G= | CA1706650833 | DDC | c.196C= (p.Pro66=) c.93C= | |
7 | g.50543890G>T | CA367531267 | DDC | c.196C>A (p.Pro66Thr) c.93C>A | |
7 | g.50543890_50543891dup | CA2682813285 | DDC | c.195_196dup (p.Pro66ArgfsTer4) c.195_196dup (p.Pro66ArgfsTer21) c.92_93dup c.195_196dup (p.Pro66ArgfsTer15) | gnomAD v4 |
7 | g.50543891C>A | CA367531276 | DDC | c.195G>T (p.Met65Ile) c.92G>T | gnomAD v4 |
7 | g.50543891C= | CA1706650835 | DDC | c.195G= (p.Met65=) c.92G= | |
7 | g.50543891C>G | CA367531273 | DDC | c.195G>C (p.Met65Ile) c.92G>C | |
7 | g.50543891C>T | CA367531269 | DDC | c.195G>A (p.Met65Ile) c.92G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.50543892A= | CA1706650837 | DDC | c.194T= (p.Met65=) c.91T= | |
7 | g.50543892A>C | CA367531280 | DDC | c.194T>G (p.Met65Arg) c.91T>G | |
7 | g.50543892A>G | CA367531283 | DDC | c.194T>C (p.Met65Thr) c.91T>C | |
7 | g.50543892A>T | CA158234562 | DDC | c.194T>A (p.Met65Lys) c.91T>A | dbSNP gnomAD v4 |
7 | g.50543892_50543893insGGGACTGAGTCTCAGGGGACCTGGGGGAAAGAGCCTCACTGCCCTTGGATTTGGATTTTAATCC | CA2682813286 | DDC | c.193_194insGGATTAAAATCCAAATCCAAGGGCAGTGAGGCTCTTTCCCCCAGGTCCCCTGAGACTCAGTCCC (p.Met65ArgfsTer10) c.90_91insGGATTAAAATCCAAATCCAAGGGCAGTGAGGCTCTTTCCCCCAGGTCCCCTGAGACTCAGTCCC | gnomAD v4 |
7 | g.50543893T>A | CA367531289 | DDC | c.193A>T (p.Met65Leu) c.90A>T | |
7 | g.50543893T>C | CA367531293 | DDC | c.193A>G (p.Met65Val) c.90A>G | |
7 | g.50543893T>G | CA367531298 | DDC | c.193A>C (p.Met65Leu) c.90A>C | |
7 | g.50543894G>A | CA454943286 | DDC | c.192C>T (p.Ile64=) c.89C>T | |
7 | g.50543894G>C | CA367531300 | DDC | c.192C>G (p.Ile64Met) c.89C>G | |
7 | g.50543894G>T | CA454943287 | DDC | c.192C>A (p.Ile64=) c.89C>A | gnomAD v4 |
7 | g.50543895A= | CA1706650843 | DDC | c.191T= (p.Ile64=) c.88T= | |
7 | g.50543895A>C | CA367531303 | DDC | c.191T>G (p.Ile64Ser) c.88T>G | |
7 | g.50543895A>G | CA367531311 | DDC | c.191T>C (p.Ile64Thr) c.88T>C | dbSNP gnomAD v4 |
7 | g.50543895A>T | CA367531307 | DDC | c.191T>A (p.Ile64Asn) c.88T>A | |
7 | g.50543896T>A | CA367531314 | DDC | c.190A>T (p.Ile64Phe) c.87A>T | |
7 | g.50543896T>C | CA367531318 | DDC | c.190A>G (p.Ile64Val) c.87A>G | dbSNP |
7 | g.50543896T>G | CA367531321 | DDC | c.190A>C (p.Ile64Leu) c.87A>C | |
7 | g.50543896T= | CA1706650850 | DDC | c.190A= (p.Ile64=) c.87A= | |
7 | g.50543897T>A | CA454943289 | DDC | c.189A>T (p.Ile63=) c.86A>T | |
7 | g.50543897T>C | CA367531325 | DDC | c.189A>G (p.Ile63Met) c.86A>G | |
7 | g.50543897T>G | CA454943288 | DDC | c.189A>C (p.Ile63=) c.86A>C | |
7 | g.50543898A>C | CA367531329 | DDC | c.188T>G (p.Ile63Arg) c.85T>G | |
7 | g.50543898A>G | CA367531336 | DDC | c.188T>C (p.Ile63Thr) c.85T>C | |
7 | g.50543898A>T | CA367531333 | DDC | c.188T>A (p.Ile63Lys) c.85T>A | |
7 | g.50543899T>A | CA367531341 | DDC | c.187A>T (p.Ile63Leu) c.84A>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.50543899T>C | CA4262473 | DDC | c.187A>G (p.Ile63Val) c.84A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.50543899T>G | CA367531347 | DDC | c.187A>C (p.Ile63Leu) c.84A>C | |
7 | g.50543899T= | CA1706653847 | DDC | c.187A= (p.Ile63=) c.84A= | |
7 | g.50543900C>A | CA367531349 | DDC | c.186G>T (p.Lys62Asn) c.83G>T | |
7 | g.50543900C= | CA1706653848 | DDC | c.186G= (p.Lys62=) c.83G= | |
7 | g.50543900C>G | CA4262474 | DDC | c.186G>C (p.Lys62Asn) c.83G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.50543900C>T | CA454943290 | DDC | c.186G>A (p.Lys62=) c.83G>A | gnomAD v4 |
7 | g.50543901T>A | CA367531354 | DDC | c.185A>T (p.Lys62Met) c.82A>T | |
7 | g.50543901T>C | CA367531356 | DDC | c.185A>G (p.Lys62Arg) c.82A>G | |
7 | g.50543901T>G | CA367531364 | DDC | c.185A>C (p.Lys62Thr) c.82A>C | |
7 | g.50543902T>A | CA367531372 | DDC | c.184A>T (p.Lys62Ter) c.81A>T | |
7 | g.50543902T>C | CA367531376 | DDC | c.184A>G (p.Lys62Glu) c.81A>G | |
7 | g.50543902T>G | CA367531378 | DDC | c.184A>C (p.Lys62Gln) c.81A>C | |
7 | g.50543903C>A | CA4262475 | DDC | c.183G>T (p.Glu61Asp) c.80G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.50543903C= | CA1706653849 | DDC | c.183G= (p.Glu61=) c.80G= | |
7 | g.50543903C>G | CA367531381 | DDC | c.183G>C (p.Glu61Asp) c.80G>C | |
7 | g.50543903C>T | CA454943291 | DDC | c.183G>A (p.Glu61=) c.80G>A | dbSNP gnomAD v3 gnomAD v4 |
7 | g.50543904T>A | CA367531382 | DDC | c.182A>T (p.Glu61Val) c.79A>T | gnomAD v4 |
7 | g.50543904T>C | CA367531383 | DDC | c.182A>G (p.Glu61Gly) c.79A>G | |
7 | g.50543904T>G | CA367531385 | DDC | c.182A>C (p.Glu61Ala) c.79A>C | |
7 | g.50543905C>A | CA367531387 | DDC | c.181G>T (p.Glu61Ter) c.78G>T | |
7 | g.50543905C>G | CA367531402 | DDC | c.181G>C (p.Glu61Gln) c.78G>C | |
7 | g.50543905C>T | CA367531405 | DDC | c.181G>A (p.Glu61Lys) c.78G>A | |
7 | g.50543906A>C | CA454943293 | DDC | c.180T>G (p.Val60=) c.77T>G | gnomAD v4 |
7 | g.50543906A>G | CA454943294 | DDC | c.180T>C (p.Val60=) c.77T>C | ClinVar dbSNP |
7 | g.50543906A>T | CA454943295 | DDC | c.180T>A (p.Val60=) c.77T>A |