| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.1630293G>A | CA9729314 | SIRPG | c.762C>T (p.Ser254=) c.1095C>T (p.Ser365=) c.444C>T (p.Ser148=) c.996C>T (p.Ser332=) n.156C>T n.244C>T c.777C>T (p.Ser259=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.1630293G>C | CA509367609 | SIRPG | c.762C>G (p.Ser254=) c.1095C>G (p.Ser365=) c.444C>G (p.Ser148=) c.996C>G (p.Ser332=) n.156C>G n.244C>G c.777C>G (p.Ser259=) | gnomAD v4 |
| 20 | g.1630293G= | CA2345733476 | SIRPG | c.762C= (p.Ser254=) c.1095C= (p.Ser365=) c.444C= (p.Ser148=) c.996C= (p.Ser332=) n.156C= n.244C= c.777C= (p.Ser259=) | |
| 20 | g.1630293G>T | CA509367610 | SIRPG | c.762C>A (p.Ser254=) c.1095C>A (p.Ser365=) c.444C>A (p.Ser148=) c.996C>A (p.Ser332=) n.156C>A n.244C>A c.777C>A (p.Ser259=) | gnomAD v4 |
| 20 | g.1630294G>A | CA407998544 | SIRPG | c.761C>T (p.Ser254Phe) c.1094C>T (p.Ser365Phe) c.443C>T (p.Ser148Phe) c.995C>T (p.Ser332Phe) n.155C>T n.243C>T c.776C>T (p.Ser259Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.1630294G>C | CA407998545 | SIRPG | c.761C>G (p.Ser254Cys) c.1094C>G (p.Ser365Cys) c.443C>G (p.Ser148Cys) c.995C>G (p.Ser332Cys) n.155C>G n.243C>G c.776C>G (p.Ser259Cys) | |
| 20 | g.1630294G= | CA2345733477 | SIRPG | c.761C= (p.Ser254=) c.1094C= (p.Ser365=) c.443C= (p.Ser148=) c.995C= (p.Ser332=) n.155C= n.243C= c.776C= (p.Ser259=) | |
| 20 | g.1630294G>T | CA407998546 | SIRPG | c.761C>A (p.Ser254Tyr) c.1094C>A (p.Ser365Tyr) c.443C>A (p.Ser148Tyr) c.995C>A (p.Ser332Tyr) n.155C>A n.243C>A c.776C>A (p.Ser259Tyr) | gnomAD v4 |
| 20 | g.1630295A>C | CA407998547 | SIRPG | c.760T>G (p.Ser254Ala) c.1093T>G (p.Ser365Ala) c.442T>G (p.Ser148Ala) c.994T>G (p.Ser332Ala) n.154T>G n.242T>G c.775T>G (p.Ser259Ala) | |
| 20 | g.1630295A>G | CA407998548 | SIRPG | c.760T>C (p.Ser254Pro) c.1093T>C (p.Ser365Pro) c.442T>C (p.Ser148Pro) c.994T>C (p.Ser332Pro) n.154T>C n.242T>C c.775T>C (p.Ser259Pro) | |
| 20 | g.1630295A>T | CA407998549 | SIRPG | c.760T>A (p.Ser254Thr) c.1093T>A (p.Ser365Thr) c.442T>A (p.Ser148Thr) c.994T>A (p.Ser332Thr) n.154T>A n.242T>A c.775T>A (p.Ser259Thr) | |
| 20 | g.1630296T>A | CA509367611 | SIRPG | c.759A>T (p.Ser253=) c.1092A>T (p.Ser364=) c.441A>T (p.Ser147=) c.993A>T (p.Ser331=) n.153A>T n.241A>T c.774A>T (p.Ser258=) | |
| 20 | g.1630296T>C | CA509367613 | SIRPG | c.759A>G (p.Ser253=) c.1092A>G (p.Ser364=) c.441A>G (p.Ser147=) c.993A>G (p.Ser331=) n.153A>G n.241A>G c.774A>G (p.Ser258=) | gnomAD v4 |
| 20 | g.1630296T>G | CA509367612 | SIRPG | c.759A>C (p.Ser253=) c.1092A>C (p.Ser364=) c.441A>C (p.Ser147=) c.993A>C (p.Ser331=) n.153A>C n.241A>C c.774A>C (p.Ser258=) | |
| 20 | g.1630296_1630303dup | CA2577317968 | SIRPG | c.752_759dup (p.Ser254ArgfsTer11) c.1085_1092dup (p.Ser365ArgfsTer11) c.434_441dup (p.Ser148ArgfsTer11) c.986_993dup (p.Ser332ArgfsTer11) n.146_153dup n.234_241dup c.767_774dup (p.Ser259ArgfsTer11) | gnomAD v4 |
| 20 | g.1630297G>A | CA407998551 | SIRPG | c.758C>T (p.Ser253Leu) c.1091C>T (p.Ser364Leu) c.440C>T (p.Ser147Leu) c.992C>T (p.Ser331Leu) n.152C>T n.240C>T c.773C>T (p.Ser258Leu) | gnomAD v4 |
| 20 | g.1630297G>C | CA407998552 | SIRPG | c.758C>G (p.Ser253Ter) c.1091C>G (p.Ser364Ter) c.440C>G (p.Ser147Ter) c.992C>G (p.Ser331Ter) n.152C>G n.240C>G c.773C>G (p.Ser258Ter) | |
| 20 | g.1630297G= | CA2345733478 | SIRPG | c.758C= (p.Ser253=) c.1091C= (p.Ser364=) c.440C= (p.Ser147=) c.992C= (p.Ser331=) n.152C= n.240C= c.773C= (p.Ser258=) | |
| 20 | g.1630297G>T | CA407998550 | SIRPG | c.758C>A (p.Ser253Ter) c.1091C>A (p.Ser364Ter) c.440C>A (p.Ser147Ter) c.992C>A (p.Ser331Ter) n.152C>A n.240C>A c.773C>A (p.Ser258Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.1630298A= | CA2345733479 | SIRPG | c.757T= (p.Ser253=) c.1090T= (p.Ser364=) c.439T= (p.Ser147=) c.991T= (p.Ser331=) n.151T= n.239T= c.772T= (p.Ser258=) | |
| 20 | g.1630298A>C | CA407998555 | SIRPG | c.757T>G (p.Ser253Ala) c.1090T>G (p.Ser364Ala) c.439T>G (p.Ser147Ala) c.991T>G (p.Ser331Ala) n.151T>G n.239T>G c.772T>G (p.Ser258Ala) | |
| 20 | g.1630298A>G | CA407998553 | SIRPG | c.757T>C (p.Ser253Pro) c.1090T>C (p.Ser364Pro) c.439T>C (p.Ser147Pro) c.991T>C (p.Ser331Pro) n.151T>C n.239T>C c.772T>C (p.Ser258Pro) | |
| 20 | g.1630298A>T | CA407998554 | SIRPG | c.757T>A (p.Ser253Thr) c.1090T>A (p.Ser364Thr) c.439T>A (p.Ser147Thr) c.991T>A (p.Ser331Thr) n.151T>A n.239T>A c.772T>A (p.Ser258Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.1630299T>A | CA509367614 | SIRPG | c.756A>T (p.Ala252=) c.1089A>T (p.Ala363=) c.438A>T (p.Ala146=) c.990A>T (p.Ala330=) n.150A>T n.238A>T c.771A>T (p.Ala257=) | gnomAD v4 |
| 20 | g.1630299T>C | CA509367616 | SIRPG | c.756A>G (p.Ala252=) c.1089A>G (p.Ala363=) c.438A>G (p.Ala146=) c.990A>G (p.Ala330=) n.150A>G n.238A>G c.771A>G (p.Ala257=) | gnomAD v4 |
| 20 | g.1630299T>G | CA509367615 | SIRPG | c.756A>C (p.Ala252=) c.1089A>C (p.Ala363=) c.438A>C (p.Ala146=) c.990A>C (p.Ala330=) n.150A>C n.238A>C c.771A>C (p.Ala257=) | |
| 20 | g.1630300G>A | CA407998556 | SIRPG | c.755C>T (p.Ala252Val) c.1088C>T (p.Ala363Val) c.437C>T (p.Ala146Val) c.989C>T (p.Ala330Val) n.149C>T n.237C>T c.770C>T (p.Ala257Val) | gnomAD v4 |
| 20 | g.1630300G>C | CA407998557 | SIRPG | c.755C>G (p.Ala252Gly) c.1088C>G (p.Ala363Gly) c.437C>G (p.Ala146Gly) c.989C>G (p.Ala330Gly) n.149C>G n.237C>G c.770C>G (p.Ala257Gly) | |
| 20 | g.1630300G>T | CA407998558 | SIRPG | c.755C>A (p.Ala252Glu) c.1088C>A (p.Ala363Glu) c.437C>A (p.Ala146Glu) c.989C>A (p.Ala330Glu) n.149C>A n.237C>A c.770C>A (p.Ala257Glu) | gnomAD v4 |
| 20 | g.1630301C>A | CA9729315 | SIRPG | c.754G>T (p.Ala252Ser) c.1087G>T (p.Ala363Ser) c.436G>T (p.Ala146Ser) c.988G>T (p.Ala330Ser) n.148G>T n.236G>T c.769G>T (p.Ala257Ser) | dbSNP ExAC gnomAD v4 |
| 20 | g.1630301C= | CA2345733480 | SIRPG | c.754G= (p.Ala252=) c.1087G= (p.Ala363=) c.436G= (p.Ala146=) c.988G= (p.Ala330=) n.148G= n.236G= c.769G= (p.Ala257=) | |
| 20 | g.1630301C>G | CA407998559 | SIRPG | c.754G>C (p.Ala252Pro) c.1087G>C (p.Ala363Pro) c.436G>C (p.Ala146Pro) c.988G>C (p.Ala330Pro) n.148G>C n.236G>C c.769G>C (p.Ala257Pro) | |
| 20 | g.1630301C>T | CA310791201 | SIRPG | c.754G>A (p.Ala252Thr) c.1087G>A (p.Ala363Thr) c.436G>A (p.Ala146Thr) c.988G>A (p.Ala330Thr) n.148G>A n.236G>A c.769G>A (p.Ala257Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.1630302C>A | CA509367617 | SIRPG | c.753G>T (p.Pro251=) c.1086G>T (p.Pro362=) c.435G>T (p.Pro145=) c.987G>T (p.Pro329=) n.147G>T n.235G>T c.768G>T (p.Pro256=) | gnomAD v4 |
| 20 | g.1630302C= | CA2345733481 | SIRPG | c.753G= (p.Pro251=) c.1086G= (p.Pro362=) c.435G= (p.Pro145=) c.987G= (p.Pro329=) n.147G= n.235G= c.768G= (p.Pro256=) | |
| 20 | g.1630302C>G | CA509367618 | SIRPG | c.753G>C (p.Pro251=) c.1086G>C (p.Pro362=) c.435G>C (p.Pro145=) c.987G>C (p.Pro329=) n.147G>C n.235G>C c.768G>C (p.Pro256=) | |
| 20 | g.1630302C>T | CA9729316 | SIRPG | c.753G>A (p.Pro251=) c.1086G>A (p.Pro362=) c.435G>A (p.Pro145=) c.987G>A (p.Pro329=) n.147G>A n.235G>A c.768G>A (p.Pro256=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.1630303G>A | CA9729317 | SIRPG | c.752C>T (p.Pro251Leu) c.1085C>T (p.Pro362Leu) c.434C>T (p.Pro145Leu) c.986C>T (p.Pro329Leu) n.146C>T n.234C>T c.767C>T (p.Pro256Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.1630303G>C | CA407998560 | SIRPG | c.752C>G (p.Pro251Arg) c.1085C>G (p.Pro362Arg) c.434C>G (p.Pro145Arg) c.986C>G (p.Pro329Arg) n.146C>G n.234C>G c.767C>G (p.Pro256Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.1630303G= | CA2345733482 | SIRPG | c.752C= (p.Pro251=) c.1085C= (p.Pro362=) c.434C= (p.Pro145=) c.986C= (p.Pro329=) n.146C= n.234C= c.767C= (p.Pro256=) | |
| 20 | g.1630303G>T | CA407998561 | SIRPG | c.752C>A (p.Pro251Gln) c.1085C>A (p.Pro362Gln) c.434C>A (p.Pro145Gln) c.986C>A (p.Pro329Gln) n.146C>A n.234C>A c.767C>A (p.Pro256Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.1630305del | CA2651604009 | SIRPG | c.752del (p.Pro251ArgfsTer11) c.1085del (p.Pro362ArgfsTer11) c.434del (p.Pro145ArgfsTer11) c.986del (p.Pro329ArgfsTer11) n.146del n.234del c.767del (p.Pro256ArgfsTer11) | gnomAD v4 |
| 20 | g.1630304G>A | CA9729318 | SIRPG | c.751C>T (p.Pro251Ser) c.1084C>T (p.Pro362Ser) c.433C>T (p.Pro145Ser) c.985C>T (p.Pro329Ser) n.145C>T n.233C>T c.766C>T (p.Pro256Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.1630304G>C | CA407998563 | SIRPG | c.751C>G (p.Pro251Ala) c.1084C>G (p.Pro362Ala) c.433C>G (p.Pro145Ala) c.985C>G (p.Pro329Ala) n.145C>G n.233C>G c.766C>G (p.Pro256Ala) | |
| 20 | g.1630304G= | CA2345733483 | SIRPG | c.751C= (p.Pro251=) c.1084C= (p.Pro362=) c.433C= (p.Pro145=) c.985C= (p.Pro329=) n.145C= n.233C= c.766C= (p.Pro256=) | |
| 20 | g.1630304G>T | CA407998562 | SIRPG | c.751C>A (p.Pro251Thr) c.1084C>A (p.Pro362Thr) c.433C>A (p.Pro145Thr) c.985C>A (p.Pro329Thr) n.145C>A n.233C>A c.766C>A (p.Pro256Thr) | gnomAD v4 |
| 20 | g.1630305G>A | CA509367619 | SIRPG | c.750C>T (p.Gly250=) c.1083C>T (p.Gly361=) c.432C>T (p.Gly144=) c.984C>T (p.Gly328=) n.144C>T n.232C>T c.765C>T (p.Gly255=) | dbSNP gnomAD v4 |
| 20 | g.1630305G>C | CA509367620 | SIRPG | c.750C>G (p.Gly250=) c.1083C>G (p.Gly361=) c.432C>G (p.Gly144=) c.984C>G (p.Gly328=) n.144C>G n.232C>G c.765C>G (p.Gly255=) | |
| 20 | g.1630305G= | CA2345733484 | SIRPG | c.750C= (p.Gly250=) c.1083C= (p.Gly361=) c.432C= (p.Gly144=) c.984C= (p.Gly328=) n.144C= n.232C= c.765C= (p.Gly255=) | |
| 20 | g.1630305G>T | CA509367621 | SIRPG | c.750C>A (p.Gly250=) c.1083C>A (p.Gly361=) c.432C>A (p.Gly144=) c.984C>A (p.Gly328=) n.144C>A n.232C>A c.765C>A (p.Gly255=) | gnomAD v4 COSMIC |