Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.18122085A>C | CA362827695 | NHLRC1 | c.522T>G (p.Ile174Met) | |
6 | g.18122085A>G | CA448958143 | NHLRC1 | c.522T>C (p.Ile174=) | |
6 | g.18122085A>T | CA448958144 | NHLRC1 | c.522T>A (p.Ile174=) | |
6 | g.18122086A>C | CA362827700 | NHLRC1 | c.521T>G (p.Ile174Ser) | |
6 | g.18122086A>G | CA362827697 | NHLRC1 | c.521T>C (p.Ile174Thr) | |
6 | g.18122086A>T | CA362827698 | NHLRC1 | c.521T>A (p.Ile174Asn) | |
6 | g.18122087T>A | CA362827702 | NHLRC1 | c.520A>T (p.Ile174Phe) | |
6 | g.18122087T>C | CA362827705 | NHLRC1 | c.520A>G (p.Ile174Val) | gnomAD v4 |
6 | g.18122087T>G | CA3649980 | NHLRC1 | c.520A>C (p.Ile174Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.18122087T= | CA1613536392 | NHLRC1 | c.520A= (p.Ile174=) | |
6 | g.18122087_18122088delinsTG | CA1613536393 | NHLRC1 | c.519_520delinsCA (p.Asp173=) | |
6 | g.18122088del | CA1613536394 | NHLRC1 | c.519del (p.Asp173GlufsTer?) | ClinVar dbSNP gnomAD v4 |
6 | g.18122088G>A | CA448958149 | NHLRC1 | c.519C>T (p.Asp173=) | ClinVar gnomAD v4 |
6 | g.18122088G>C | CA362827709 | NHLRC1 | c.519C>G (p.Asp173Glu) | |
6 | g.18122088G>T | CA362827711 | NHLRC1 | c.519C>A (p.Asp173Glu) | |
6 | g.18122089T>A | CA362827715 | NHLRC1 | c.518A>T (p.Asp173Val) | |
6 | g.18122089T>C | CA362827716 | NHLRC1 | c.518A>G (p.Asp173Gly) | COSMIC |
6 | g.18122089T>G | CA362827718 | NHLRC1 | c.518A>C (p.Asp173Ala) | |
6 | g.18122090C>A | CA362827721 | NHLRC1 | c.517G>T (p.Asp173Tyr) | |
6 | g.18122090C= | CA1613536395 | NHLRC1 | c.517G= (p.Asp173=) | |
6 | g.18122090C>G | CA362827723 | NHLRC1 | c.517G>C (p.Asp173His) | |
6 | g.18122090C>T | CA362827726 | NHLRC1 | c.517G>A (p.Asp173Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.18122091T>A | CA362827730 | NHLRC1 | c.516A>T (p.Gln172His) | |
6 | g.18122091T>C | CA448958154 | NHLRC1 | c.516A>G (p.Gln172=) | |
6 | g.18122091T>G | CA362827729 | NHLRC1 | c.516A>C (p.Gln172His) | |
6 | g.18122092T>A | CA362827732 | NHLRC1 | c.515A>T (p.Gln172Leu) | gnomAD v4 |
6 | g.18122092T>C | CA362827735 | NHLRC1 | c.515A>G (p.Gln172Arg) | ClinVar dbSNP |
6 | g.18122092T>G | CA362827737 | NHLRC1 | c.515A>C (p.Gln172Pro) | |
6 | g.18122092T= | CA1613536396 | NHLRC1 | c.515A= (p.Gln172=) | |
6 | g.18122093G>A | CA362827738 | NHLRC1 | c.514C>T (p.Gln172Ter) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.18122093G>C | CA362827740 | NHLRC1 | c.514C>G (p.Gln172Glu) | |
6 | g.18122093G= | CA1613536397 | NHLRC1 | c.514C= (p.Gln172=) | |
6 | g.18122093G>T | CA362827743 | NHLRC1 | c.514C>A (p.Gln172Lys) | |
6 | g.18122094G>A | CA316010 | NHLRC1 | c.513C>T (p.Ala171=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.18122094G>C | CA448958163 | NHLRC1 | c.513C>G (p.Ala171=) | dbSNP gnomAD v4 |
6 | g.18122094G= | CA1613536398 | NHLRC1 | c.513C= (p.Ala171=) | |
6 | g.18122094G>T | CA448958164 | NHLRC1 | c.513C>A (p.Ala171=) | |
6 | g.18122094_18122095delinsAA | CA645551454 | NHLRC1 | c.512_513delinsTT (p.Ala171Val) | COSMIC |
6 | g.18122095G>A | CA362827748 | NHLRC1 | c.512C>T (p.Ala171Val) | gnomAD v4 |
6 | g.18122095G>C | CA362827749 | NHLRC1 | c.512C>G (p.Ala171Gly) | |
6 | g.18122095G>T | CA362827750 | NHLRC1 | c.512C>A (p.Ala171Asp) | |
6 | g.18122096C>A | CA362827752 | NHLRC1 | c.511G>T (p.Ala171Ser) | |
6 | g.18122096C>G | CA362827754 | NHLRC1 | c.511G>C (p.Ala171Pro) | |
6 | g.18122096C>T | CA362827756 | NHLRC1 | c.511G>A (p.Ala171Thr) | |
6 | g.18122097A>C | CA448958169 | NHLRC1 | c.510T>G (p.Ala170=) | |
6 | g.18122097A>G | CA448958170 | NHLRC1 | c.510T>C (p.Ala170=) | |
6 | g.18122097A>T | CA448958171 | NHLRC1 | c.510T>A (p.Ala170=) | |
6 | g.18122098G>A | CA362827763 | NHLRC1 | c.509C>T (p.Ala170Val) | |
6 | g.18122098G>C | CA362827759 | NHLRC1 | c.509C>G (p.Ala170Gly) | |
6 | g.18122098G>T | CA362827761 | NHLRC1 | c.509C>A (p.Ala170Asp) |