Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.11881049G>A | CA16620660 | GNAL | c.1291G>A (p.Val431Met) c.1060G>A (p.Val354Met) c.439G>A (p.Val147Met) | ClinVar dbSNP COSMIC |
18 | g.11881049G>C | CA401928269 | GNAL | c.1291G>C (p.Val431Leu) c.1060G>C (p.Val354Leu) c.439G>C (p.Val147Leu) | |
18 | g.11881049G= | CA2284983272 | GNAL | c.1291G= (p.Val431=) c.1060G= (p.Val354=) c.439G= (p.Val147=) | |
18 | g.11881049G>T | CA401928270 | GNAL | c.1291G>T (p.Val431Leu) c.1060G>T (p.Val354Leu) c.439G>T (p.Val147Leu) | |
18 | g.11881050T>A | CA401928271 | GNAL | c.1292T>A (p.Val431Glu) c.1061T>A (p.Val354Glu) c.440T>A (p.Val147Glu) | |
18 | g.11881050T>C | CA401928272 | GNAL | c.1292T>C (p.Val431Ala) c.1061T>C (p.Val354Ala) c.440T>C (p.Val147Ala) | ClinVar |
18 | g.11881050T>G | CA401928273 | GNAL | c.1292T>G (p.Val431Gly) c.1061T>G (p.Val354Gly) c.440T>G (p.Val147Gly) | |
18 | g.11881051G>A | CA502927798 | GNAL | c.1293G>A (p.Val431=) c.1062G>A (p.Val354=) c.441G>A (p.Val147=) | |
18 | g.11881051G>C | CA502927799 | GNAL | c.1293G>C (p.Val431=) c.1062G>C (p.Val354=) c.441G>C (p.Val147=) | |
18 | g.11881051G>T | CA502927800 | GNAL | c.1293G>T (p.Val431=) c.1062G>T (p.Val354=) c.441G>T (p.Val147=) | |
18 | g.11881052G>A | CA401928274 | GNAL | c.1294G>A (p.Asp432Asn) c.1063G>A (p.Asp355Asn) c.442G>A (p.Asp148Asn) | |
18 | g.11881052G>C | CA401928275 | GNAL | c.1294G>C (p.Asp432His) c.1063G>C (p.Asp355His) c.442G>C (p.Asp148His) | |
18 | g.11881052G>T | CA401928276 | GNAL | c.1294G>T (p.Asp432Tyr) c.1063G>T (p.Asp355Tyr) c.442G>T (p.Asp148Tyr) | |
18 | g.11881053A>C | CA401928277 | GNAL | c.1295A>C (p.Asp432Ala) c.1064A>C (p.Asp355Ala) c.443A>C (p.Asp148Ala) | |
18 | g.11881053A>G | CA401928278 | GNAL | c.1295A>G (p.Asp432Gly) c.1064A>G (p.Asp355Gly) c.443A>G (p.Asp148Gly) | |
18 | g.11881053A>T | CA401928279 | GNAL | c.1295A>T (p.Asp432Val) c.1064A>T (p.Asp355Val) c.443A>T (p.Asp148Val) | |
18 | g.11881054C>A | CA401928280 | GNAL | c.1296C>A (p.Asp432Glu) c.1065C>A (p.Asp355Glu) c.444C>A (p.Asp148Glu) | |
18 | g.11881054C>G | CA401928281 | GNAL | c.1296C>G (p.Asp432Glu) c.1065C>G (p.Asp355Glu) c.444C>G (p.Asp148Glu) | |
18 | g.11881054C>T | CA502927801 | GNAL | c.1296C>T (p.Asp432=) c.1065C>T (p.Asp355=) c.444C>T (p.Asp148=) | gnomAD v4 |
18 | g.11881055A>C | CA401928282 | GNAL | c.1297A>C (p.Thr433Pro) c.1066A>C (p.Thr356Pro) c.445A>C (p.Thr149Pro) | |
18 | g.11881055A>G | CA401928283 | GNAL | c.1297A>G (p.Thr433Ala) c.1066A>G (p.Thr356Ala) c.445A>G (p.Thr149Ala) | |
18 | g.11881055A>T | CA401928284 | GNAL | c.1297A>T (p.Thr433Ser) c.1066A>T (p.Thr356Ser) c.445A>T (p.Thr149Ser) | |
18 | g.11881056C>A | CA401928285 | GNAL | c.1298C>A (p.Thr433Lys) c.1067C>A (p.Thr356Lys) c.446C>A (p.Thr149Lys) | |
18 | g.11881056C>G | CA401928286 | GNAL | c.1298C>G (p.Thr433Arg) c.1067C>G (p.Thr356Arg) c.446C>G (p.Thr149Arg) | |
18 | g.11881056C>T | CA401928287 | GNAL | c.1298C>T (p.Thr433Ile) c.1067C>T (p.Thr356Ile) c.446C>T (p.Thr149Ile) | |
18 | g.11881057A>C | CA502927802 | GNAL | c.1299A>C (p.Thr433=) c.1068A>C (p.Thr356=) c.447A>C (p.Thr149=) | |
18 | g.11881057A>G | CA502927803 | GNAL | c.1299A>G (p.Thr433=) c.1068A>G (p.Thr356=) c.447A>G (p.Thr149=) | |
18 | g.11881057A>T | CA502927804 | GNAL | c.1299A>T (p.Thr433=) c.1068A>T (p.Thr356=) c.447A>T (p.Thr149=) | |
18 | g.11881058G>A | CA401928288 | GNAL | c.1300G>A (p.Glu434Lys) c.1069G>A (p.Glu357Lys) c.448G>A (p.Glu150Lys) | |
18 | g.11881058G>C | CA401928289 | GNAL | c.1300G>C (p.Glu434Gln) c.1069G>C (p.Glu357Gln) c.448G>C (p.Glu150Gln) | gnomAD v4 COSMIC COSMIC |
18 | g.11881058G>T | CA401928290 | GNAL | c.1300G>T (p.Glu434Ter) c.1069G>T (p.Glu357Ter) c.448G>T (p.Glu150Ter) | |
18 | g.11881059A= | CA2284983273 | GNAL | c.1301A= (p.Glu434=) c.1070A= (p.Glu357=) c.449A= (p.Glu150=) | |
18 | g.11881059A>C | CA8894273 | GNAL | c.1301A>C (p.Glu434Ala) c.1070A>C (p.Glu357Ala) c.449A>C (p.Glu150Ala) | dbSNP ExAC gnomAD v2 |
18 | g.11881059A>G | CA401928291 | GNAL | c.1301A>G (p.Glu434Gly) c.1070A>G (p.Glu357Gly) c.449A>G (p.Glu150Gly) | |
18 | g.11881059A>T | CA401928292 | GNAL | c.1301A>T (p.Glu434Val) c.1070A>T (p.Glu357Val) c.449A>T (p.Glu150Val) | |
18 | g.11881060G>A | CA502927805 | GNAL | c.1302G>A (p.Glu434=) c.1071G>A (p.Glu357=) c.450G>A (p.Glu150=) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.11881060G>C | CA401928293 | GNAL | c.1302G>C (p.Glu434Asp) c.1071G>C (p.Glu357Asp) c.450G>C (p.Glu150Asp) | |
18 | g.11881060G= | CA2284983274 | GNAL | c.1302G= (p.Glu434=) c.1071G= (p.Glu357=) c.450G= (p.Glu150=) | |
18 | g.11881060G>T | CA401928294 | GNAL | c.1302G>T (p.Glu434Asp) c.1071G>T (p.Glu357Asp) c.450G>T (p.Glu150Asp) | |
18 | g.11881061A>C | CA401928295 | GNAL | c.1303A>C (p.Asn435His) c.1072A>C (p.Asn358His) c.451A>C (p.Asn151His) | |
18 | g.11881061A>G | CA401928297 | GNAL | c.1303A>G (p.Asn435Asp) c.1072A>G (p.Asn358Asp) c.451A>G (p.Asn151Asp) | |
18 | g.11881061A>T | CA401928296 | GNAL | c.1303A>T (p.Asn435Tyr) c.1072A>T (p.Asn358Tyr) c.451A>T (p.Asn151Tyr) | |
18 | g.11881062A>C | CA401928298 | GNAL | c.1304A>C (p.Asn435Thr) c.1073A>C (p.Asn358Thr) c.452A>C (p.Asn151Thr) | |
18 | g.11881062A>G | CA401928299 | GNAL | c.1304A>G (p.Asn435Ser) c.1073A>G (p.Asn358Ser) c.452A>G (p.Asn151Ser) | |
18 | g.11881062A>T | CA401928300 | GNAL | c.1304A>T (p.Asn435Ile) c.1073A>T (p.Asn358Ile) c.452A>T (p.Asn151Ile) | |
18 | g.11881063C>A | CA401928301 | GNAL | c.1305C>A (p.Asn435Lys) c.1074C>A (p.Asn358Lys) c.453C>A (p.Asn151Lys) | |
18 | g.11881063C= | CA2284983275 | GNAL | c.1305C= (p.Asn435=) c.1074C= (p.Asn358=) c.453C= (p.Asn151=) | |
18 | g.11881063C>G | CA401928302 | GNAL | c.1305C>G (p.Asn435Lys) c.1074C>G (p.Asn358Lys) c.453C>G (p.Asn151Lys) | |
18 | g.11881063C>T | CA8894274 | GNAL | c.1305C>T (p.Asn435=) c.1074C>T (p.Asn358=) c.453C>T (p.Asn151=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.11881064A>C | CA401928303 | GNAL | c.1306A>C (p.Ile436Leu) c.1075A>C (p.Ile359Leu) c.454A>C (p.Ile152Leu) |