Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.55269267T>C | CA826027453 | HCRTR2 | c.762+5445T>C (n.762+5445T>C) c.567+5445T>C (n.567+5445T>C) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.55269268A>G | CA826027456 | HCRTR2 | c.762+5446A>G (n.762+5446A>G) c.567+5446A>G (n.567+5446A>G) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.55269268A>T | CA2771135080 | HCRTR2 | c.762+5446A>T (n.762+5446A>T) c.567+5446A>T (n.567+5446A>T) | |
6 | g.55269269A>T | CA2771135081 | HCRTR2 | c.762+5447A>T (n.762+5447A>T) c.567+5447A>T (n.567+5447A>T) | |
6 | g.55269272T>C | CA2711608081 | HCRTR2 | c.762+5450T>C (n.762+5450T>C) c.567+5450T>C (n.567+5450T>C) | dbSNP |
6 | g.55269283_55269287del | CA567486692 | HCRTR2 | c.762+5461_762+5465del (n.762+5461_762+5465del) c.567+5461_567+5465del (n.567+5461_567+5465del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.55269279C>A | CA2711608082 | HCRTR2 | c.762+5457C>A (n.762+5457C>A) c.567+5457C>A (n.567+5457C>A) | dbSNP |
6 | g.55269283A>C | CA2711608083 | HCRTR2 | c.762+5461A>C (n.762+5461A>C) c.567+5461A>C (n.567+5461A>C) | dbSNP |
6 | g.55269284del | CA567486693 | HCRTR2 | c.762+5462del (n.762+5462del) c.567+5462del (n.567+5462del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.55269287G>A | CA1089235520 | HCRTR2 | c.762+5465G>A (n.762+5465G>A) c.567+5465G>A (n.567+5465G>A) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.55269290T>A | CA826027459 | HCRTR2 | c.762+5468T>A (n.762+5468T>A) c.567+5468T>A (n.567+5468T>A) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.55269291_55269292dup | CA2534538249 | HCRTR2 | c.762+5469_762+5470dup (n.762+5469_762+5470dup) c.567+5469_567+5470dup (n.567+5469_567+5470dup) | |
6 | g.55269291G>A | CA139610138 | HCRTR2 | c.762+5469G>A (n.762+5469G>A) c.567+5469G>A (n.567+5469G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.55269293C>T | CA1089235523 | HCRTR2 | c.762+5471C>T (n.762+5471C>T) c.567+5471C>T (n.567+5471C>T) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.55269296C>T | CA139610139 | HCRTR2 | c.762+5474C>T (n.762+5474C>T) c.567+5474C>T (n.567+5474C>T) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.55269297T>C | CA2711608087 | HCRTR2 | c.762+5475T>C (n.762+5475T>C) c.567+5475T>C (n.567+5475T>C) | dbSNP |
6 | g.55269298A>G | CA139610140 | HCRTR2 | c.762+5476A>G (n.762+5476A>G) c.567+5476A>G (n.567+5476A>G) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.55269302C>G | CA139610141 | HCRTR2 | c.762+5480C>G (n.762+5480C>G) c.567+5480C>G (n.567+5480C>G) | dbSNP |
6 | g.55269302C>T | CA1089235531 | HCRTR2 | c.762+5480C>T (n.762+5480C>T) c.567+5480C>T (n.567+5480C>T) | gnomAD v3 gnomAD v4 |
6 | g.55269304A>G | CA2711547683 | HCRTR2 | c.762+5482A>G (n.762+5482A>G) c.567+5482A>G (n.567+5482A>G) | dbSNP |
6 | g.55269307_55269308del | CA826027466 | HCRTR2 | c.762+5485_762+5486del (n.762+5485_762+5486del) c.567+5485_567+5486del (n.567+5485_567+5486del) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.55269314A>G | CA2711608088 | HCRTR2 | c.762+5492A>G (n.762+5492A>G) c.567+5492A>G (n.567+5492A>G) | dbSNP |
6 | g.55269315A>G | CA2711608089 | HCRTR2 | c.762+5493A>G (n.762+5493A>G) c.567+5493A>G (n.567+5493A>G) | dbSNP |
6 | g.55269317G>A | CA139610142 | HCRTR2 | c.762+5495G>A (n.762+5495G>A) c.567+5495G>A (n.567+5495G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.55269320G>A | CA2711608090 | HCRTR2 | c.762+5498G>A (n.762+5498G>A) c.567+5498G>A (n.567+5498G>A) | dbSNP |
6 | g.55269320_55269321del | CA2740746023 | HCRTR2 | c.762+5498_762+5499del (n.762+5498_762+5499del) c.567+5498_567+5499del (n.567+5498_567+5499del) | |
6 | g.55269323C>G | CA139610143 | HCRTR2 | c.762+5501C>G (n.762+5501C>G) c.567+5501C>G (n.567+5501C>G) | dbSNP |
6 | g.55269325G>A | CA139610144 | HCRTR2 | c.762+5503G>A (n.762+5503G>A) c.567+5503G>A (n.567+5503G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.55269328C>T | CA826027469 | HCRTR2 | c.762+5506C>T (n.762+5506C>T) c.567+5506C>T (n.567+5506C>T) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.55269329_55269330del | CA1089235543 | HCRTR2 | c.762+5507_762+5508del (n.762+5507_762+5508del) c.567+5507_567+5508del (n.567+5507_567+5508del) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.55269330G>A | CA826027472 | HCRTR2 | c.762+5508G>A (n.762+5508G>A) c.567+5508G>A (n.567+5508G>A) | dbSNP |
6 | g.55269331A>C | CA1089235544 | HCRTR2 | c.762+5509A>C (n.762+5509A>C) c.567+5509A>C (n.567+5509A>C) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.55269331A>G | CA139610145 | HCRTR2 | c.762+5509A>G (n.762+5509A>G) c.567+5509A>G (n.567+5509A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.55269332T>C | CA2711608097 | HCRTR2 | c.762+5510T>C (n.762+5510T>C) c.567+5510T>C (n.567+5510T>C) | dbSNP |
6 | g.55269334_55269362del | CA1089235547 | HCRTR2 | c.762+5512_762+5540del (n.762+5512_762+5540del) c.567+5512_567+5540del (n.567+5512_567+5540del) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.55269334C>G | CA2711608099 | HCRTR2 | c.762+5512C>G (n.762+5512C>G) c.567+5512C>G (n.567+5512C>G) | dbSNP |
6 | g.55269334C>T | CA2711608098 | HCRTR2 | c.762+5512C>T (n.762+5512C>T) c.567+5512C>T (n.567+5512C>T) | dbSNP |
6 | g.55269340A>C | CA826027474 | HCRTR2 | c.762+5518A>C (n.762+5518A>C) c.567+5518A>C (n.567+5518A>C) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.55269342G>C | CA1089235551 | HCRTR2 | c.762+5520G>C (n.762+5520G>C) c.567+5520G>C (n.567+5520G>C) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.55269343G>A | CA1089235555 | HCRTR2 | c.762+5521G>A (n.762+5521G>A) c.567+5521G>A (n.567+5521G>A) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.55269344C>T | CA2529617486 | HCRTR2 | c.762+5522C>T (n.762+5522C>T) c.567+5522C>T (n.567+5522C>T) | |
6 | g.55269345A>G | CA2711608102 | HCRTR2 | c.762+5523A>G (n.762+5523A>G) c.567+5523A>G (n.567+5523A>G) | dbSNP |
6 | g.55269345A>T | CA1089235561 | HCRTR2 | c.762+5523A>T (n.762+5523A>T) c.567+5523A>T (n.567+5523A>T) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.55269348C>T | CA650346403 | HCRTR2 | c.762+5526C>T (n.762+5526C>T) c.567+5526C>T (n.567+5526C>T) | dbSNP COSMIC |
6 | g.55269350G>A | CA567486695 | HCRTR2 | c.762+5528G>A (n.762+5528G>A) c.567+5528G>A (n.567+5528G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.55269351G>A | CA567486696 | HCRTR2 | c.762+5529G>A (n.762+5529G>A) c.567+5529G>A (n.567+5529G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.55269352C>G | CA1089235563 | HCRTR2 | c.762+5530C>G (n.762+5530C>G) c.567+5530C>G (n.567+5530C>G) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.55269354A>C | CA2771135082 | HCRTR2 | c.762+5532A>C (n.762+5532A>C) c.567+5532A>C (n.567+5532A>C) | |
6 | g.55269357G>A | CA2711516818 | HCRTR2 | c.762+5535G>A (n.762+5535G>A) c.567+5535G>A (n.567+5535G>A) | dbSNP |
6 | g.55269357G>T | CA826027476 | HCRTR2 | c.762+5535G>T (n.762+5535G>T) c.567+5535G>T (n.567+5535G>T) | dbSNP gnomAD v3 gnomAD v4 |