Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.49974359T>A | CA402432176 | MYO5B | c.1110A>T c.1313A>T (p.Asp438Val) c.1310A>T (p.Asp437Val) | |
18 | g.49974359T>C | CA402432179 | MYO5B | c.1110A>G c.1313A>G (p.Asp438Gly) c.1310A>G (p.Asp437Gly) | |
18 | g.49974359T>G | CA402432180 | MYO5B | c.1110A>C c.1313A>C (p.Asp438Ala) c.1310A>C (p.Asp437Ala) | |
18 | g.49974360C>A | CA402432184 | MYO5B | c.1109G>T c.1312G>T (p.Asp438Tyr) c.1309G>T (p.Asp437Tyr) | |
18 | g.49974360C= | CA2302477495 | MYO5B | c.1109G= c.1312G= (p.Asp438=) c.1309G= (p.Asp437=) | |
18 | g.49974360C>G | CA402432187 | MYO5B | c.1109G>C c.1312G>C (p.Asp438His) c.1309G>C (p.Asp437His) | |
18 | g.49974360C>T | CA8961585 | MYO5B | c.1109G>A c.1312G>A (p.Asp438Asn) c.1309G>A (p.Asp437Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.49974361C>A | CA503991868 | MYO5B | c.1108G>T c.1311G>T (p.Leu437=) c.1308G>T (p.Leu436=) | |
18 | g.49974361C>G | CA503991869 | MYO5B | c.1108G>C c.1311G>C (p.Leu437=) c.1308G>C (p.Leu436=) | |
18 | g.49974361C>T | CA503991870 | MYO5B | c.1108G>A c.1311G>A (p.Leu437=) c.1308G>A (p.Leu436=) | |
18 | g.49974362A>C | CA402432191 | MYO5B | c.1107T>G c.1310T>G (p.Leu437Arg) c.1307T>G (p.Leu436Arg) | |
18 | g.49974362A>G | CA402432194 | MYO5B | c.1107T>C c.1310T>C (p.Leu437Pro) c.1307T>C (p.Leu436Pro) | gnomAD v4 |
18 | g.49974362A>T | CA402432196 | MYO5B | c.1107T>A c.1310T>A (p.Leu437Gln) c.1307T>A (p.Leu436Gln) | |
18 | g.49974362_49974363delinsAG | CA2302477496 | MYO5B | c.1106_1107delinsCT c.1309_1310delinsCT (p.Leu437=) c.1306_1307delinsCT (p.Leu436=) | |
18 | g.49974363G>A | CA503991873 | MYO5B | c.1106C>T c.1309C>T (p.Leu437=) c.1306C>T (p.Leu436=) | |
18 | g.49974363G>C | CA402432199 | MYO5B | c.1106C>G c.1309C>G (p.Leu437Val) c.1306C>G (p.Leu436Val) | |
18 | g.49974363G>T | CA402432202 | MYO5B | c.1106C>A c.1309C>A (p.Leu437Met) c.1306C>A (p.Leu436Met) | |
18 | g.49974364del | CA780080935 | MYO5B | c.1106del c.1309del (p.Leu437TrpfsTer11) c.1306del (p.Leu436TrpfsTer11) | dbSNP |
18 | g.49974364G>A | CA503991875 | MYO5B | c.1105C>T c.1308C>T (p.Val436=) c.1305C>T (p.Val435=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
18 | g.49974364G>C | CA503991876 | MYO5B | c.1105C>G c.1308C>G (p.Val436=) c.1305C>G (p.Val435=) | |
18 | g.49974364G= | CA2302477497 | MYO5B | c.1105C= c.1308C= (p.Val436=) c.1305C= (p.Val435=) | |
18 | g.49974364G>T | CA503991877 | MYO5B | c.1105C>A c.1308C>A (p.Val436=) c.1305C>A (p.Val435=) | |
18 | g.49974365A= | CA2302477498 | MYO5B | c.1104T= c.1307T= (p.Val436=) c.1304T= (p.Val435=) | |
18 | g.49974365A>C | CA402432209 | MYO5B | c.1104T>G c.1307T>G (p.Val436Gly) c.1304T>G (p.Val435Gly) | |
18 | g.49974365A>G | CA8961586 | MYO5B | c.1104T>C c.1307T>C (p.Val436Ala) c.1304T>C (p.Val435Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.49974365A>T | CA402432204 | MYO5B | c.1104T>A c.1307T>A (p.Val436Asp) c.1304T>A (p.Val435Asp) | |
18 | g.49974366C>A | CA402432210 | MYO5B | c.1103G>T c.1306G>T (p.Val436Phe) c.1303G>T (p.Val435Phe) | dbSNP |
18 | g.49974366C= | CA2302477499 | MYO5B | c.1103G= c.1306G= (p.Val436=) c.1303G= (p.Val435=) | |
18 | g.49974366C>G | CA402432211 | MYO5B | c.1103G>C c.1306G>C (p.Val436Leu) c.1303G>C (p.Val435Leu) | |
18 | g.49974366C>T | CA402432214 | MYO5B | c.1103G>A c.1306G>A (p.Val436Ile) c.1303G>A (p.Val435Ile) | gnomAD v4 |
18 | g.49974367C>A | CA503991880 | MYO5B | c.1102G>T c.1305G>T (p.Gly435=) c.1302G>T (p.Gly434=) | gnomAD v4 |
18 | g.49974367C= | CA2302477500 | MYO5B | c.1102G= c.1305G= (p.Gly435=) c.1302G= (p.Gly434=) | |
18 | g.49974367C>G | CA503991879 | MYO5B | c.1102G>C c.1305G>C (p.Gly435=) c.1302G>C (p.Gly434=) | |
18 | g.49974367C>T | CA8961587 | MYO5B | c.1102G>A c.1305G>A (p.Gly435=) c.1302G>A (p.Gly434=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.49974368C>A | CA402432218 | MYO5B | c.1101G>T c.1304G>T (p.Gly435Val) c.1301G>T (p.Gly434Val) | |
18 | g.49974368C= | CA2302477501 | MYO5B | c.1101G= c.1304G= (p.Gly435=) c.1301G= (p.Gly434=) | |
18 | g.49974368C>G | CA402432220 | MYO5B | c.1101G>C c.1304G>C (p.Gly435Ala) c.1301G>C (p.Gly434Ala) | |
18 | g.49974368C>T | CA8961588 | MYO5B | c.1101G>A c.1304G>A (p.Gly435Glu) c.1301G>A (p.Gly434Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.49974369C>A | CA402432222 | MYO5B | c.1100G>T c.1303G>T (p.Gly435Trp) c.1300G>T (p.Gly434Trp) | |
18 | g.49974369C= | CA2302477502 | MYO5B | c.1100G= c.1303G= (p.Gly435=) c.1300G= (p.Gly434=) | |
18 | g.49974369C>G | CA402432224 | MYO5B | c.1100G>C c.1303G>C (p.Gly435Arg) c.1300G>C (p.Gly434Arg) | |
18 | g.49974369C>T | CA402432226 | MYO5B | c.1100G>A c.1303G>A (p.Gly435Arg) c.1300G>A (p.Gly434Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
18 | g.49974369_49974371del | CA2641797085 | MYO5B | c.1098_1100del c.1301_1303del (p.Ile434_Gly435delinsArg) c.1298_1300del (p.Ile433_Gly434delinsArg) | gnomAD v4 |
18 | g.49974370G>A | CA8961589 | MYO5B | c.1099C>T c.1302C>T (p.Ile434=) c.1299C>T (p.Ile433=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.49974370G>C | CA402432228 | MYO5B | c.1099C>G c.1302C>G (p.Ile434Met) c.1299C>G (p.Ile433Met) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.49974370G= | CA2302477503 | MYO5B | c.1099C= c.1302C= (p.Ile434=) c.1299C= (p.Ile433=) | |
18 | g.49974370G>T | CA503991881 | MYO5B | c.1099C>A c.1302C>A (p.Ile434=) c.1299C>A (p.Ile433=) | |
18 | g.49974371A>C | CA402432234 | MYO5B | c.1098T>G c.1301T>G (p.Ile434Ser) c.1298T>G (p.Ile433Ser) | |
18 | g.49974371A>G | CA402432230 | MYO5B | c.1098T>C c.1301T>C (p.Ile434Thr) c.1298T>C (p.Ile433Thr) | gnomAD v4 |
18 | g.49974371A>T | CA402432232 | MYO5B | c.1098T>A c.1301T>A (p.Ile434Asn) c.1298T>A (p.Ile433Asn) | |
18 | g.49974372T>A | CA299985945 | MYO5B | c.1097A>T c.1300A>T (p.Ile434Phe) c.1297A>T (p.Ile433Phe) | dbSNP gnomAD v4 |
18 | g.49974372T>C | CA8961590 | MYO5B | c.1097A>G c.1300A>G (p.Ile434Val) c.1297A>G (p.Ile433Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.49974372T>G | CA402432236 | MYO5B | c.1097A>C c.1300A>C (p.Ile434Leu) c.1297A>C (p.Ile433Leu) | |
18 | g.49974372T= | CA2302477504 | MYO5B | c.1097A= c.1300A= (p.Ile434=) c.1297A= (p.Ile433=) | |
18 | g.49974373G>A | CA503991882 | MYO5B | c.1096C>T c.1299C>T (p.Phe433=) c.1296C>T (p.Phe432=) | |
18 | g.49974373G>C | CA402432238 | MYO5B | c.1096C>G c.1299C>G (p.Phe433Leu) c.1296C>G (p.Phe432Leu) | gnomAD v4 |
18 | g.49974373G>T | CA402432240 | MYO5B | c.1096C>A c.1299C>A (p.Phe433Leu) c.1296C>A (p.Phe432Leu) | |
18 | g.49974374A>C | CA402432241 | MYO5B | c.1095T>G c.1298T>G (p.Phe433Cys) c.1295T>G (p.Phe432Cys) | |
18 | g.49974374A>G | CA402432243 | MYO5B | c.1095T>C c.1298T>C (p.Phe433Ser) c.1295T>C (p.Phe432Ser) | |
18 | g.49974374A>T | CA402432245 | MYO5B | c.1095T>A c.1298T>A (p.Phe433Tyr) c.1295T>A (p.Phe432Tyr) | |
18 | g.49974375A>C | CA402432247 | MYO5B | c.1094T>G c.1297T>G (p.Phe433Val) c.1294T>G (p.Phe432Val) | gnomAD v4 |
18 | g.49974375A>G | CA402432249 | MYO5B | c.1094T>C c.1297T>C (p.Phe433Leu) c.1294T>C (p.Phe432Leu) | |
18 | g.49974375A>T | CA402432251 | MYO5B | c.1094T>A c.1297T>A (p.Phe433Ile) c.1294T>A (p.Phe432Ile) | |
18 | g.49974377_49974379del | CA2641797086 | MYO5B | c.1092_1094del c.1295_1297del (p.Ser432del) c.1292_1294del (p.Ser431del) | gnomAD v4 |
18 | g.49974376G>A | CA503991883 | MYO5B | c.1093C>T c.1296C>T (p.Ser432=) c.1293C>T (p.Ser431=) | |
18 | g.49974376G>C | CA503991884 | MYO5B | c.1093C>G c.1296C>G (p.Ser432=) c.1293C>G (p.Ser431=) | |
18 | g.49974376G>T | CA503991885 | MYO5B | c.1093C>A c.1296C>A (p.Ser432=) c.1293C>A (p.Ser431=) | |
18 | g.49974377G>A | CA402432253 | MYO5B | c.1092C>T c.1295C>T (p.Ser432Phe) c.1292C>T (p.Ser431Phe) | |
18 | g.49974377G>C | CA402432252 | MYO5B | c.1092C>G c.1295C>G (p.Ser432Cys) c.1292C>G (p.Ser431Cys) | |
18 | g.49974377G= | CA2302477505 | MYO5B | c.1092C= c.1295C= (p.Ser432=) c.1292C= (p.Ser431=) | |
18 | g.49974377G>T | CA8961591 | MYO5B | c.1092C>A c.1295C>A (p.Ser432Tyr) c.1292C>A (p.Ser431Tyr) | dbSNP ExAC gnomAD v2 |
18 | g.49974378A>C | CA402432255 | MYO5B | c.1091T>G c.1294T>G (p.Ser432Ala) c.1291T>G (p.Ser431Ala) | |
18 | g.49974378A>G | CA402432258 | MYO5B | c.1091T>C c.1294T>C (p.Ser432Pro) c.1291T>C (p.Ser431Pro) | gnomAD v4 |
18 | g.49974378A>T | CA402432257 | MYO5B | c.1091T>A c.1294T>A (p.Ser432Thr) c.1291T>A (p.Ser431Thr) | |
18 | g.49974379G>A | CA503991888 | MYO5B | c.1090C>T c.1293C>T (p.His431=) c.1290C>T (p.His430=) | dbSNP |
18 | g.49974379G>C | CA402432260 | MYO5B | c.1090C>G c.1293C>G (p.His431Gln) c.1290C>G (p.His430Gln) | |
18 | g.49974379G= | CA2302477506 | MYO5B | c.1090C= c.1293C= (p.His431=) c.1290C= (p.His430=) | |
18 | g.49974379G>T | CA402432261 | MYO5B | c.1090C>A c.1293C>A (p.His431Gln) c.1290C>A (p.His430Gln) | |
18 | g.49974380T>A | CA402432263 | MYO5B | c.1089A>T c.1292A>T (p.His431Leu) c.1289A>T (p.His430Leu) | |
18 | g.49974380T>C | CA402432264 | MYO5B | c.1089A>G c.1292A>G (p.His431Arg) c.1289A>G (p.His430Arg) | |
18 | g.49974380T>G | CA299985946 | MYO5B | c.1089A>C c.1292A>C (p.His431Pro) c.1289A>C (p.His430Pro) | dbSNP |
18 | g.49974380T= | CA2302477507 | MYO5B | c.1089A= c.1292A= (p.His431=) c.1289A= (p.His430=) | |
18 | g.49974381G>A | CA402432267 | MYO5B | c.1088C>T c.1291C>T (p.His431Tyr) c.1288C>T (p.His430Tyr) | dbSNP gnomAD v4 |
18 | g.49974381G>C | CA402432268 | MYO5B | c.1088C>G c.1291C>G (p.His431Asp) c.1288C>G (p.His430Asp) | |
18 | g.49974381G= | CA2302477508 | MYO5B | c.1088C= c.1291C= (p.His431=) c.1288C= (p.His430=) | |
18 | g.49974381G>T | CA402432270 | MYO5B | c.1088C>A c.1291C>A (p.His431Asn) c.1288C>A (p.His430Asn) | |
18 | g.49974382C>A | CA402432275 | MYO5B | c.1087G>T c.1290G>T (p.Gln430His) c.1287G>T (p.Gln429His) | |
18 | g.49974382C>G | CA402432277 | MYO5B | c.1087G>C c.1290G>C (p.Gln430His) c.1287G>C (p.Gln429His) | |
18 | g.49974382C>T | CA503991892 | MYO5B | c.1087G>A c.1290G>A (p.Gln430=) c.1287G>A (p.Gln429=) | |
18 | g.49974383T>A | CA402432279 | MYO5B | c.1086A>T c.1289A>T (p.Gln430Leu) c.1286A>T (p.Gln429Leu) | |
18 | g.49974383T>C | CA402432281 | MYO5B | c.1086A>G c.1289A>G (p.Gln430Arg) c.1286A>G (p.Gln429Arg) | |
18 | g.49974383T>G | CA402432282 | MYO5B | c.1086A>C c.1289A>C (p.Gln430Pro) c.1286A>C (p.Gln429Pro) | dbSNP |
18 | g.49974383T= | CA2302477509 | MYO5B | c.1086A= c.1289A= (p.Gln430=) c.1286A= (p.Gln429=) | |
18 | g.49974384G>A | CA402432284 | MYO5B | c.1085C>T c.1288C>T (p.Gln430Ter) c.1285C>T (p.Gln429Ter) | |
18 | g.49974384G>C | CA402432287 | MYO5B | c.1085C>G c.1288C>G (p.Gln430Glu) c.1285C>G (p.Gln429Glu) | gnomAD v4 |
18 | g.49974384G>T | CA402432286 | MYO5B | c.1085C>A c.1288C>A (p.Gln430Lys) c.1285C>A (p.Gln429Lys) | dbSNP |
18 | g.49974385C>A | CA402432288 | MYO5B | c.1084G>T c.1287G>T (p.Lys429Asn) c.1284G>T (p.Lys428Asn) | |
18 | g.49974385C= | CA2302477510 | MYO5B | c.1084G= c.1287G= (p.Lys429=) c.1284G= (p.Lys428=) | |
18 | g.49974385C>G | CA402432289 | MYO5B | c.1084G>C c.1287G>C (p.Lys429Asn) c.1284G>C (p.Lys428Asn) | |
18 | g.49974385C>T | CA8961592 | MYO5B | c.1084G>A c.1287G>A (p.Lys429=) c.1284G>A (p.Lys428=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.49974386T>A | CA402432292 | MYO5B | c.1083A>T c.1286A>T (p.Lys429Met) c.1283A>T (p.Lys428Met) | |
18 | g.49974386T>C | CA402432294 | MYO5B | c.1083A>G c.1286A>G (p.Lys429Arg) c.1283A>G (p.Lys428Arg) | gnomAD v4 |
18 | g.49974386T>G | CA402432295 | MYO5B | c.1083A>C c.1286A>C (p.Lys429Thr) c.1283A>C (p.Lys428Thr) | |
18 | g.49974387T>A | CA402432297 | MYO5B | c.1082A>T c.1285A>T (p.Lys429Ter) c.1282A>T (p.Lys428Ter) | |
18 | g.49974387T>C | CA402432298 | MYO5B | c.1082A>G c.1285A>G (p.Lys429Glu) c.1282A>G (p.Lys428Glu) | |
18 | g.49974387T>G | CA402432300 | MYO5B | c.1082A>C c.1285A>C (p.Lys429Gln) c.1282A>C (p.Lys428Gln) | |
18 | g.49974388G>A | CA503991893 | MYO5B | c.1081C>T c.1284C>T (p.Leu428=) c.1281C>T (p.Leu427=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.49974388G>C | CA503991895 | MYO5B | c.1081C>G c.1284C>G (p.Leu428=) c.1281C>G (p.Leu427=) | |
18 | g.49974388G= | CA2302477511 | MYO5B | c.1081C= c.1284C= (p.Leu428=) c.1281C= (p.Leu427=) | |
18 | g.49974388G>T | CA503991894 | MYO5B | c.1081C>A c.1284C>A (p.Leu428=) c.1281C>A (p.Leu427=) | |
18 | g.49974389A>C | CA402432304 | MYO5B | c.1080T>G c.1283T>G (p.Leu428Arg) c.1280T>G (p.Leu427Arg) | |
18 | g.49974389A>G | CA402432303 | MYO5B | c.1080T>C c.1283T>C (p.Leu428Pro) c.1280T>C (p.Leu427Pro) | gnomAD v4 |
18 | g.49974389A>T | CA402432302 | MYO5B | c.1080T>A c.1283T>A (p.Leu428His) c.1280T>A (p.Leu427His) | |
18 | g.49974390G>A | CA402432306 | MYO5B | c.1079C>T c.1282C>T (p.Leu428Phe) c.1279C>T (p.Leu427Phe) | |
18 | g.49974390G>C | CA402432308 | MYO5B | c.1079C>G c.1282C>G (p.Leu428Val) c.1279C>G (p.Leu427Val) | |
18 | g.49974390G>T | CA402432309 | MYO5B | c.1079C>A c.1282C>A (p.Leu428Ile) c.1279C>A (p.Leu427Ile) | |
18 | g.49974392del | CA2641797087 | MYO5B | c.1079del c.1282del (p.Leu428SerfsTer20) c.1279del (p.Leu427SerfsTer20) | gnomAD v4 |
18 | g.49974391G>A | CA503991896 | MYO5B | c.1078C>T c.1281C>T (p.Ser427=) c.1278C>T (p.Ser426=) | gnomAD v4 |
18 | g.49974391G>C | CA503991897 | MYO5B | c.1078C>G c.1281C>G (p.Ser427=) c.1278C>G (p.Ser426=) | |
18 | g.49974391G>T | CA503991898 | MYO5B | c.1078C>A c.1281C>A (p.Ser427=) c.1278C>A (p.Ser426=) | |
18 | g.49974392G>A | CA402432311 | MYO5B | c.1077C>T c.1280C>T (p.Ser427Phe) c.1277C>T (p.Ser426Phe) | |
18 | g.49974392G>C | CA402432312 | MYO5B | c.1077C>G c.1280C>G (p.Ser427Cys) c.1277C>G (p.Ser426Cys) | |
18 | g.49974392G>T | CA402432314 | MYO5B | c.1077C>A c.1280C>A (p.Ser427Tyr) c.1277C>A (p.Ser426Tyr) | |
18 | g.49974393A= | CA2302477512 | MYO5B | c.1076T= c.1279T= (p.Ser427=) c.1276T= (p.Ser426=) | |
18 | g.49974393A>C | CA402432315 | MYO5B | c.1076T>G c.1279T>G (p.Ser427Ala) c.1276T>G (p.Ser426Ala) | |
18 | g.49974393A>G | CA402432316 | MYO5B | c.1076T>C c.1279T>C (p.Ser427Pro) c.1276T>C (p.Ser426Pro) | |
18 | g.49974393A>T | CA402432317 | MYO5B | c.1076T>A c.1279T>A (p.Ser427Thr) c.1276T>A (p.Ser426Thr) | |
18 | g.49974394G>A | CA503991899 | MYO5B | c.1075C>T c.1278C>T (p.Thr426=) c.1275C>T (p.Thr425=) | |
18 | g.49974394G>C | CA503991900 | MYO5B | c.1075C>G c.1278C>G (p.Thr426=) c.1275C>G (p.Thr425=) | |
18 | g.49974394G>T | CA503991901 | MYO5B | c.1075C>A c.1278C>A (p.Thr426=) c.1275C>A (p.Thr425=) | |
18 | g.49974395dup | CA629925710 | MYO5B | c.1075dup c.1278dup (p.Ser427LeufsTer17) c.1275dup (p.Ser426LeufsTer17) | dbSNP gnomAD v2 |
18 | g.49974395G>A | CA402432319 | MYO5B | c.1074C>T c.1277C>T (p.Thr426Ile) c.1274C>T (p.Thr425Ile) | |
18 | g.49974395G>C | CA402432320 | MYO5B | c.1074C>G c.1277C>G (p.Thr426Ser) c.1274C>G (p.Thr425Ser) | |
18 | g.49974395G>T | CA402432322 | MYO5B | c.1074C>A c.1277C>A (p.Thr426Asn) c.1274C>A (p.Thr425Asn) | |
18 | g.49974396T>A | CA402432333 | MYO5B | c.1073A>T c.1276A>T (p.Thr426Ser) c.1273A>T (p.Thr425Ser) | |
18 | g.49974396T>C | CA402432325 | MYO5B | c.1073A>G c.1276A>G (p.Thr426Ala) c.1273A>G (p.Thr425Ala) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.49974396T>G | CA402432323 | MYO5B | c.1073A>C c.1276A>C (p.Thr426Pro) c.1273A>C (p.Thr425Pro) | gnomAD v4 |
18 | g.49974396T= | CA2302477513 | MYO5B | c.1073A= c.1276A= (p.Thr426=) c.1273A= (p.Thr425=) | |
18 | g.49974397G>A | CA503991902 | MYO5B | c.1072C>T c.1275C>T (p.His425=) c.1272C>T (p.His424=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
18 | g.49974397G>C | CA402432335 | MYO5B | c.1072C>G c.1275C>G (p.His425Gln) c.1272C>G (p.His424Gln) | |
18 | g.49974397G= | CA2302477514 | MYO5B | c.1072C= c.1275C= (p.His425=) c.1272C= (p.His424=) | |
18 | g.49974397G>T | CA402432337 | MYO5B | c.1072C>A c.1275C>A (p.His425Gln) c.1272C>A (p.His424Gln) | gnomAD v4 |
18 | g.49974398T>A | CA402432339 | MYO5B | c.1071A>T c.1274A>T (p.His425Leu) c.1271A>T (p.His424Leu) | |
18 | g.49974398T>C | CA299985947 | MYO5B | c.1071A>G c.1274A>G (p.His425Arg) c.1271A>G (p.His424Arg) | dbSNP |
18 | g.49974398T>G | CA402432345 | MYO5B | c.1071A>C c.1274A>C (p.His425Pro) c.1271A>C (p.His424Pro) | |
18 | g.49974398T= | CA2302477515 | MYO5B | c.1071A= c.1274A= (p.His425=) c.1271A= (p.His424=) | |
18 | g.49974399G>A | CA402432348 | MYO5B | c.1070C>T c.1273C>T (p.His425Tyr) c.1270C>T (p.His424Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.49974399G>C | CA402432357 | MYO5B | c.1070C>G c.1273C>G (p.His425Asp) c.1270C>G (p.His424Asp) | |
18 | g.49974399G= | CA2302477516 | MYO5B | c.1070C= c.1273C= (p.His425=) c.1270C= (p.His424=) | |
18 | g.49974399G>T | CA402432358 | MYO5B | c.1070C>A c.1273C>A (p.His425Asn) c.1270C>A (p.His424Asn) | |
18 | g.49974400C>A | CA503991903 | MYO5B | c.1069G>T c.1272G>T (p.Leu424=) c.1269G>T (p.Leu423=) | |
18 | g.49974400C>G | CA503991905 | MYO5B | c.1069G>C c.1272G>C (p.Leu424=) c.1269G>C (p.Leu423=) | |
18 | g.49974400C>T | CA503991904 | MYO5B | c.1069G>A c.1272G>A (p.Leu424=) c.1269G>A (p.Leu423=) | |
18 | g.49974401A= | CA2302477517 | MYO5B | c.1068T= c.1271T= (p.Leu424=) c.1268T= (p.Leu423=) | |
18 | g.49974401A>C | CA402432362 | MYO5B | c.1068T>G c.1271T>G (p.Leu424Arg) c.1268T>G (p.Leu423Arg) | |
18 | g.49974401A>G | CA402432365 | MYO5B | c.1068T>C c.1271T>C (p.Leu424Pro) c.1268T>C (p.Leu423Pro) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.49974401A>T | CA402432367 | MYO5B | c.1068T>A c.1271T>A (p.Leu424Gln) c.1268T>A (p.Leu423Gln) | |
18 | g.49974402G>A | CA503991906 | MYO5B | c.1067C>T c.1270C>T (p.Leu424=) c.1267C>T (p.Leu423=) | ClinVar dbSNP gnomAD v4 |
18 | g.49974402G>C | CA402432370 | MYO5B | c.1067C>G c.1270C>G (p.Leu424Val) c.1267C>G (p.Leu423Val) | |
18 | g.49974402G>T | CA402432372 | MYO5B | c.1067C>A c.1270C>A (p.Leu424Met) c.1267C>A (p.Leu423Met) | |
18 | g.49974403G>A | CA503991907 | MYO5B | c.1066C>T c.1269C>T (p.Ala423=) c.1266C>T (p.Ala422=) | |
18 | g.49974403G>C | CA503991908 | MYO5B | c.1066C>G c.1269C>G (p.Ala423=) c.1266C>G (p.Ala422=) | |
18 | g.49974403G>T | CA503991909 | MYO5B | c.1066C>A c.1269C>A (p.Ala423=) c.1266C>A (p.Ala422=) | |
18 | g.49974404G>A | CA402432376 | MYO5B | c.1065C>T c.1268C>T (p.Ala423Val) c.1265C>T (p.Ala422Val) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.49974404G>C | CA402432378 | MYO5B | c.1065C>G c.1268C>G (p.Ala423Gly) c.1265C>G (p.Ala422Gly) | |
18 | g.49974404G= | CA2302477518 | MYO5B | c.1065C= c.1268C= (p.Ala423=) c.1265C= (p.Ala422=) | |
18 | g.49974404G>T | CA402432375 | MYO5B | c.1065C>A c.1268C>A (p.Ala423Asp) c.1265C>A (p.Ala422Asp) | gnomAD v4 |
18 | g.49974405C>A | CA8961593 | MYO5B | c.1064G>T c.1267G>T (p.Ala423Ser) c.1264G>T (p.Ala422Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.49974405C= | CA2302477519 | MYO5B | c.1064G= c.1267G= (p.Ala423=) c.1264G= (p.Ala422=) | |
18 | g.49974405C>G | CA402432379 | MYO5B | c.1064G>C c.1267G>C (p.Ala423Pro) c.1264G>C (p.Ala422Pro) | |
18 | g.49974405C>T | CA402432381 | MYO5B | c.1064G>A c.1267G>A (p.Ala423Thr) c.1264G>A (p.Ala422Thr) | gnomAD v4 |
18 | g.49974406C>A | CA402432383 | MYO5B | c.1063G>T c.1266G>T (p.Lys422Asn) c.1263G>T (p.Lys421Asn) | |
18 | g.49974406C>G | CA402432384 | MYO5B | c.1063G>C c.1266G>C (p.Lys422Asn) c.1263G>C (p.Lys421Asn) | |
18 | g.49974406C>T | CA503991910 | MYO5B | c.1063G>A c.1266G>A (p.Lys422=) c.1263G>A (p.Lys421=) | |
18 | g.49974407T>A | CA402432385 | MYO5B | c.1062A>T c.1265A>T (p.Lys422Met) c.1262A>T (p.Lys421Met) | |
18 | g.49974407T>C | CA8961594 | MYO5B | c.1062A>G c.1265A>G (p.Lys422Arg) c.1262A>G (p.Lys421Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.49974407T>G | CA402432386 | MYO5B | c.1062A>C c.1265A>C (p.Lys422Thr) c.1262A>C (p.Lys421Thr) | |
18 | g.49974407T= | CA2302477520 | MYO5B | c.1062A= c.1265A= (p.Lys422=) c.1262A= (p.Lys421=) | |
18 | g.49974408T>A | CA402432392 | MYO5B | c.1061A>T c.1264A>T (p.Lys422Ter) c.1261A>T (p.Lys421Ter) | |
18 | g.49974408T>C | CA402432388 | MYO5B | c.1061A>G c.1264A>G (p.Lys422Glu) c.1261A>G (p.Lys421Glu) | |
18 | g.49974408T>G | CA402432389 | MYO5B | c.1061A>C c.1264A>C (p.Lys422Gln) c.1261A>C (p.Lys421Gln) | |
18 | g.49974409G>A | CA503991911 | MYO5B | c.1060C>T c.1263C>T (p.Asn421=) c.1260C>T (p.Asn420=) | gnomAD v4 |
18 | g.49974409G>C | CA8961595 | MYO5B | c.1060C>G c.1263C>G (p.Asn421Lys) c.1260C>G (p.Asn420Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.49974409G= | CA2302477521 | MYO5B | c.1060C= c.1263C= (p.Asn421=) c.1260C= (p.Asn420=) | |
18 | g.49974409G>T | CA402432396 | MYO5B | c.1060C>A c.1263C>A (p.Asn421Lys) c.1260C>A (p.Asn420Lys) | |
18 | g.49974410T>A | CA402432398 | MYO5B | c.1059A>T c.1262A>T (p.Asn421Ile) c.1259A>T (p.Asn420Ile) | gnomAD v4 |
18 | g.49974410T>C | CA8961596 | MYO5B | c.1059A>G c.1262A>G (p.Asn421Ser) c.1259A>G (p.Asn420Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.49974410T>G | CA402432401 | MYO5B | c.1059A>C c.1262A>C (p.Asn421Thr) c.1259A>C (p.Asn420Thr) | |
18 | g.49974410T= | CA2302477522 | MYO5B | c.1059A= c.1262A= (p.Asn421=) c.1259A= (p.Asn420=) | |
18 | g.49974411T>A | CA402432404 | MYO5B | c.1058A>T c.1261A>T (p.Asn421Tyr) c.1258A>T (p.Asn420Tyr) | |
18 | g.49974411T>C | CA402432408 | MYO5B | c.1058A>G c.1261A>G (p.Asn421Asp) c.1258A>G (p.Asn420Asp) | |
18 | g.49974411T>G | CA402432405 | MYO5B | c.1058A>C c.1261A>C (p.Asn421His) c.1258A>C (p.Asn420His) | |
18 | g.49974412G>A | CA503991912 | MYO5B | c.1057C>T c.1260C>T (p.Ile420=) c.1257C>T (p.Ile419=) | |
18 | g.49974412G>C | CA402432411 | MYO5B | c.1057C>G c.1260C>G (p.Ile420Met) c.1257C>G (p.Ile419Met) | |
18 | g.49974412G>T | CA503991913 | MYO5B | c.1057C>A c.1260C>A (p.Ile420=) c.1257C>A (p.Ile419=) | |
18 | g.49974413A= | CA2302477523 | MYO5B | c.1056T= c.1259T= (p.Ile420=) c.1256T= (p.Ile419=) | |
18 | g.49974413A>C | CA402432412 | MYO5B | c.1056T>G c.1259T>G (p.Ile420Ser) c.1256T>G (p.Ile419Ser) | |
18 | g.49974413A>G | CA402432415 | MYO5B | c.1056T>C c.1259T>C (p.Ile420Thr) c.1256T>C (p.Ile419Thr) | dbSNP |
18 | g.49974413A>T | CA402432418 | MYO5B | c.1056T>A c.1259T>A (p.Ile420Asn) c.1256T>A (p.Ile419Asn) | |
18 | g.49974414T>A | CA402432421 | MYO5B | c.1055A>T c.1258A>T (p.Ile420Phe) c.1255A>T (p.Ile419Phe) | gnomAD v4 |
18 | g.49974414T>C | CA402432422 | MYO5B | c.1055A>G c.1258A>G (p.Ile420Val) c.1255A>G (p.Ile419Val) | dbSNP gnomAD v4 |
18 | g.49974414T>G | CA402432425 | MYO5B | c.1055A>C c.1258A>C (p.Ile420Leu) c.1255A>C (p.Ile419Leu) | |
18 | g.49974415G>A | CA503991914 | MYO5B | c.1054C>T c.1257C>T (p.His419=) c.1254C>T (p.His418=) | gnomAD v4 |
18 | g.49974415G>C | CA402432428 | MYO5B | c.1054C>G c.1257C>G (p.His419Gln) c.1254C>G (p.His418Gln) | |
18 | g.49974415G>T | CA402432430 | MYO5B | c.1054C>A c.1257C>A (p.His419Gln) c.1254C>A (p.His418Gln) | COSMIC |
18 | g.49974416T>A | CA402432433 | MYO5B | c.1053A>T c.1256A>T (p.His419Leu) c.1253A>T (p.His418Leu) | |
18 | g.49974416T>C | CA402432436 | MYO5B | c.1053A>G c.1256A>G (p.His419Arg) c.1253A>G (p.His418Arg) | gnomAD v4 |
18 | g.49974416T>G | CA402432439 | MYO5B | c.1053A>C c.1256A>C (p.His419Pro) c.1253A>C (p.His418Pro) | |
18 | g.49974417G>A | CA402432444 | MYO5B | c.1052C>T c.1255C>T (p.His419Tyr) c.1252C>T (p.His418Tyr) | |
18 | g.49974417G>C | CA402432449 | MYO5B | c.1052C>G c.1255C>G (p.His419Asp) c.1252C>G (p.His418Asp) | |
18 | g.49974417G>T | CA402432446 | MYO5B | c.1052C>A c.1255C>A (p.His419Asn) c.1252C>A (p.His418Asn) | |
18 | g.49974418C>A | CA8961597 | MYO5B | c.1051G>T c.1254G>T (p.Glu418Asp) c.1251G>T (p.Glu417Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.49974418C= | CA2302477524 | MYO5B | c.1051G= c.1254G= (p.Glu418=) c.1251G= (p.Glu417=) | |
18 | g.49974418C>G | CA402432463 | MYO5B | c.1051G>C c.1254G>C (p.Glu418Asp) c.1251G>C (p.Glu417Asp) | |
18 | g.49974418C>T | CA503991915 | MYO5B | c.1051G>A c.1254G>A (p.Glu418=) c.1251G>A (p.Glu417=) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.49974419T>A | CA8961598 | MYO5B | c.1050A>T c.1253A>T (p.Glu418Val) c.1250A>T (p.Glu417Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.49974419T>C | CA402432468 | MYO5B | c.1050A>G c.1253A>G (p.Glu418Gly) c.1250A>G (p.Glu417Gly) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.49974419T>G | CA402432471 | MYO5B | c.1050A>C c.1253A>C (p.Glu418Ala) c.1250A>C (p.Glu417Ala) | |
18 | g.49974419T= | CA2302477525 | MYO5B | c.1050A= c.1253A= (p.Glu418=) c.1250A= (p.Glu417=) | |
18 | g.49974420C>A | CA402432474 | MYO5B | c.1049G>T c.1252G>T (p.Glu418Ter) c.1249G>T (p.Glu417Ter) | |
18 | g.49974420C= | CA2302477526 | MYO5B | c.1049G= c.1252G= (p.Glu418=) c.1249G= (p.Glu417=) | |
18 | g.49974420C>G | CA402432477 | MYO5B | c.1049G>C c.1252G>C (p.Glu418Gln) c.1249G>C (p.Glu417Gln) | dbSNP gnomAD v4 |
18 | g.49974420C>T | CA299985948 | MYO5B | c.1049G>A c.1252G>A (p.Glu418Lys) c.1249G>A (p.Glu417Lys) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.49974421C>A | CA503991916 | MYO5B | c.1048G>T c.1251G>T (p.Val417=) c.1248G>T (p.Val416=) | |
18 | g.49974421C>G | CA503991917 | MYO5B | c.1048G>C c.1251G>C (p.Val417=) c.1248G>C (p.Val416=) | |
18 | g.49974421C>T | CA503991918 | MYO5B | c.1048G>A c.1251G>A (p.Val417=) c.1248G>A (p.Val416=) | |
18 | g.49974422A>C | CA402432478 | MYO5B | c.1047T>G c.1250T>G (p.Val417Gly) c.1247T>G (p.Val416Gly) | |
18 | g.49974422A>G | CA402432479 | MYO5B | c.1047T>C c.1250T>C (p.Val417Ala) c.1247T>C (p.Val416Ala) | |
18 | g.49974422A>T | CA402432480 | MYO5B | c.1047T>A c.1250T>A (p.Val417Glu) c.1247T>A (p.Val416Glu) | |
18 | g.49974423C>A | CA402432486 | MYO5B | c.1046G>T c.1249G>T (p.Val417Leu) c.1246G>T (p.Val416Leu) | |
18 | g.49974423C= | CA2302477527 | MYO5B | c.1046G= c.1249G= (p.Val417=) c.1246G= (p.Val416=) | |
18 | g.49974423C>G | CA402432484 | MYO5B | c.1046G>C c.1249G>C (p.Val417Leu) c.1246G>C (p.Val416Leu) | |
18 | g.49974423C>T | CA402432482 | MYO5B | c.1046G>A c.1249G>A (p.Val417Met) c.1246G>A (p.Val416Met) | dbSNP |
18 | g.49974424A= | CA2302477528 | MYO5B | c.1045T= c.1248T= (p.Ile416=) c.1245T= (p.Ile415=) | |
18 | g.49974424A>C | CA402432487 | MYO5B | c.1045T>G c.1248T>G (p.Ile416Met) c.1245T>G (p.Ile415Met) | |
18 | g.49974424A>G | CA299985949 | MYO5B | c.1045T>C c.1248T>C (p.Ile416=) c.1245T>C (p.Ile415=) | dbSNP |
18 | g.49974424A>T | CA503991919 | MYO5B | c.1045T>A c.1248T>A (p.Ile416=) c.1245T>A (p.Ile415=) | |
18 | g.49974425A>C | CA402432490 | MYO5B | c.1044T>G c.1247T>G (p.Ile416Ser) c.1244T>G (p.Ile415Ser) | |
18 | g.49974425A>G | CA402432493 | MYO5B | c.1044T>C c.1247T>C (p.Ile416Thr) c.1244T>C (p.Ile415Thr) | gnomAD v4 |
18 | g.49974425A>T | CA402432495 | MYO5B | c.1044T>A c.1247T>A (p.Ile416Asn) c.1244T>A (p.Ile415Asn) | ClinVar dbSNP |
18 | g.49974426T>A | CA402432498 | MYO5B | c.1043A>T c.1246A>T (p.Ile416Phe) c.1243A>T (p.Ile415Phe) | |
18 | g.49974426T>C | CA402432499 | MYO5B | c.1043A>G c.1246A>G (p.Ile416Val) c.1243A>G (p.Ile415Val) | |
18 | g.49974426T>G | CA402432502 | MYO5B | c.1043A>C c.1246A>C (p.Ile416Leu) c.1243A>C (p.Ile415Leu) | |
18 | g.49974427C>A | CA402432504 | MYO5B | c.1042G>T c.1245G>T (p.Trp415Cys) c.1242G>T (p.Trp414Cys) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.49974427C= | CA2302477529 | MYO5B | c.1042G= c.1245G= (p.Trp415=) c.1242G= (p.Trp414=) | |
18 | g.49974427C>G | CA402432507 | MYO5B | c.1042G>C c.1245G>C (p.Trp415Cys) c.1242G>C (p.Trp414Cys) | |
18 | g.49974427C>T | CA402432509 | MYO5B | c.1042G>A c.1245G>A (p.Trp415Ter) c.1242G>A (p.Trp414Ter) | |
18 | g.49974428C>A | CA8961599 | MYO5B | c.1041G>T c.1244G>T (p.Trp415Leu) c.1241G>T (p.Trp414Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.49974428C= | CA2302477530 | MYO5B | c.1041G= c.1244G= (p.Trp415=) c.1241G= (p.Trp414=) | |
18 | g.49974428C>G | CA402432513 | MYO5B | c.1041G>C c.1244G>C (p.Trp415Ser) c.1241G>C (p.Trp414Ser) | dbSNP gnomAD v2 |
18 | g.49974428C>T | CA402432516 | MYO5B | c.1041G>A c.1244G>A (p.Trp415Ter) c.1241G>A (p.Trp414Ter) | |
18 | g.49974429A>C | CA402432519 | MYO5B | c.1040T>G c.1243T>G (p.Trp415Gly) c.1240T>G (p.Trp414Gly) | |
18 | g.49974429A>G | CA402432518 | MYO5B | c.1040T>C c.1243T>C (p.Trp415Arg) c.1240T>C (p.Trp414Arg) | |
18 | g.49974429A>T | CA402432517 | MYO5B | c.1040T>A c.1243T>A (p.Trp415Arg) c.1240T>A (p.Trp414Arg) | |
18 | g.49974430G>A | CA503991921 | MYO5B | c.1039C>T c.1242C>T (p.Gly414=) c.1239C>T (p.Gly413=) | gnomAD v4 |
18 | g.49974430G>C | CA503991922 | MYO5B | c.1039C>G c.1242C>G (p.Gly414=) c.1239C>G (p.Gly413=) | |
18 | g.49974430G>T | CA503991920 | MYO5B | c.1039C>A c.1242C>A (p.Gly414=) c.1239C>A (p.Gly413=) | COSMIC |
18 | g.49974431C>A | CA402432524 | MYO5B | c.1038G>T c.1241G>T (p.Gly414Val) c.1238G>T (p.Gly413Val) | |
18 | g.49974431C= | CA2302477531 | MYO5B | c.1038G= c.1241G= (p.Gly414=) c.1238G= (p.Gly413=) | |
18 | g.49974431C>G | CA402432520 | MYO5B | c.1038G>C c.1241G>C (p.Gly414Ala) c.1238G>C (p.Gly413Ala) | |
18 | g.49974431C>T | CA402432522 | MYO5B | c.1038G>A c.1241G>A (p.Gly414Asp) c.1238G>A (p.Gly413Asp) | ClinVar dbSNP gnomAD v4 |
18 | g.49974432C>A | CA402432535 | MYO5B | c.1037G>T c.1240G>T (p.Gly414Cys) c.1237G>T (p.Gly413Cys) | |
18 | g.49974432C= | CA2302477532 | MYO5B | c.1037G= c.1240G= (p.Gly414=) c.1237G= (p.Gly413=) | |
18 | g.49974432C>G | CA402432537 | MYO5B | c.1037G>C c.1240G>C (p.Gly414Arg) c.1237G>C (p.Gly413Arg) | |
18 | g.49974432C>T | CA8961600 | MYO5B | c.1037G>A c.1240G>A (p.Gly414Ser) c.1237G>A (p.Gly413Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.49974433G>A | CA8961601 | MYO5B | c.1036C>T c.1239C>T (p.Phe413=) c.1236C>T (p.Phe412=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
18 | g.49974433G>C | CA402432541 | MYO5B | c.1036C>G c.1239C>G (p.Phe413Leu) c.1236C>G (p.Phe412Leu) | |
18 | g.49974433G= | CA2302477533 | MYO5B | c.1036C= c.1239C= (p.Phe413=) c.1236C= (p.Phe412=) | |
18 | g.49974433G>T | CA402432542 | MYO5B | c.1036C>A c.1239C>A (p.Phe413Leu) c.1236C>A (p.Phe412Leu) | |
18 | g.49974434A>C | CA402432543 | MYO5B | c.1035T>G c.1238T>G (p.Phe413Cys) c.1235T>G (p.Phe412Cys) | |
18 | g.49974434A>G | CA402432544 | MYO5B | c.1035T>C c.1238T>C (p.Phe413Ser) c.1235T>C (p.Phe412Ser) | |
18 | g.49974434A>T | CA402432546 | MYO5B | c.1035T>A c.1238T>A (p.Phe413Tyr) c.1235T>A (p.Phe412Tyr) | |
18 | g.49974435A>C | CA402432548 | MYO5B | c.1034T>G c.1237T>G (p.Phe413Val) c.1234T>G (p.Phe412Val) | |
18 | g.49974435A>G | CA402432550 | MYO5B | c.1034T>C c.1237T>C (p.Phe413Leu) c.1234T>C (p.Phe412Leu) | gnomAD v4 |
18 | g.49974435A>T | CA402432552 | MYO5B | c.1034T>A c.1237T>A (p.Phe413Ile) c.1234T>A (p.Phe412Ile) | |
18 | g.49974436C>A | CA402432557 | MYO5B | c.1033G>T c.1236G>T (p.Leu412Phe) c.1233G>T (p.Leu411Phe) | |
18 | g.49974436C= | CA2302477534 | MYO5B | c.1033G= c.1236G= (p.Leu412=) c.1233G= (p.Leu411=) | |
18 | g.49974436C>G | CA402432554 | MYO5B | c.1033G>C c.1236G>C (p.Leu412Phe) c.1233G>C (p.Leu411Phe) | |
18 | g.49974436C>T | CA503991923 | MYO5B | c.1033G>A c.1236G>A (p.Leu412=) c.1233G>A (p.Leu411=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.49974437A>C | CA402432560 | MYO5B | c.1032T>G c.1235T>G (p.Leu412Trp) c.1232T>G (p.Leu411Trp) | |
18 | g.49974437A>G | CA402432561 | MYO5B | c.1032T>C c.1235T>C (p.Leu412Ser) c.1232T>C (p.Leu411Ser) | |
18 | g.49974437A>T | CA402432564 | MYO5B | c.1032T>A c.1235T>A (p.Leu412Ter) c.1232T>A (p.Leu411Ter) | |
18 | g.49974438A>C | CA402432566 | MYO5B | c.1031T>G c.1234T>G (p.Leu412Val) c.1231T>G (p.Leu411Val) | |
18 | g.49974438A>G | CA503991924 | MYO5B | c.1031T>C c.1234T>C (p.Leu412=) c.1231T>C (p.Leu411=) | |
18 | g.49974438A>T | CA402432569 | MYO5B | c.1031T>A c.1234T>A (p.Leu412Met) c.1231T>A (p.Leu411Met) | |
18 | g.49974439C>A | CA402432575 | MYO5B | c.1030G>T c.1233G>T (p.Gln411His) c.1230G>T (p.Gln410His) | |
18 | g.49974439C= | CA2302477535 | MYO5B | c.1030G= c.1233G= (p.Gln411=) c.1230G= (p.Gln410=) | |
18 | g.49974439C>G | CA402432573 | MYO5B | c.1030G>C c.1233G>C (p.Gln411His) c.1230G>C (p.Gln410His) | |
18 | g.49974439C>T | CA8961602 | MYO5B | c.1030G>A c.1233G>A (p.Gln411=) c.1230G>A (p.Gln410=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.49974440T>A | CA402432579 | MYO5B | c.1029A>T c.1232A>T (p.Gln411Leu) c.1229A>T (p.Gln410Leu) | |
18 | g.49974440T>C | CA402432581 | MYO5B | c.1029A>G c.1232A>G (p.Gln411Arg) c.1229A>G (p.Gln410Arg) | gnomAD v4 |
18 | g.49974440T>G | CA402432583 | MYO5B | c.1029A>C c.1232A>C (p.Gln411Pro) c.1229A>C (p.Gln410Pro) | |
18 | g.49974441G>A | CA402432588 | MYO5B | c.1028C>T c.1231C>T (p.Gln411Ter) c.1228C>T (p.Gln410Ter) | |
18 | g.49974441G>C | CA402432591 | MYO5B | c.1028C>G c.1231C>G (p.Gln411Glu) c.1228C>G (p.Gln410Glu) | |
18 | g.49974441G>T | CA402432592 | MYO5B | c.1028C>A c.1231C>A (p.Gln411Lys) c.1228C>A (p.Gln410Lys) | |
18 | g.49974442G>A | CA503991926 | MYO5B | c.1027C>T c.1230C>T (p.Ala410=) c.1227C>T (p.Ala409=) | gnomAD v4 |
18 | g.49974442G>C | CA503991927 | MYO5B | c.1027C>G c.1230C>G (p.Ala410=) c.1227C>G (p.Ala409=) | gnomAD v4 |
18 | g.49974442G>T | CA503991928 | MYO5B | c.1027C>A c.1230C>A (p.Ala410=) c.1227C>A (p.Ala409=) | COSMIC |
18 | g.49974443G>A | CA299985950 | MYO5B | c.1026C>T c.1229C>T (p.Ala410Val) c.1226C>T (p.Ala409Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.49974443G>C | CA402432598 | MYO5B | c.1026C>G c.1229C>G (p.Ala410Gly) c.1226C>G (p.Ala409Gly) | |
18 | g.49974443G= | CA2302477536 | MYO5B | c.1026C= c.1229C= (p.Ala410=) c.1226C= (p.Ala409=) | |
18 | g.49974443G>T | CA402432596 | MYO5B | c.1026C>A c.1229C>A (p.Ala410Asp) c.1226C>A (p.Ala409Asp) | |
18 | g.49974444C>A | CA8961603 | MYO5B | c.1025G>T c.1228G>T (p.Ala410Ser) c.1225G>T (p.Ala409Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.49974444C= | CA2302477537 | MYO5B | c.1025G= c.1228G= (p.Ala410=) c.1225G= (p.Ala409=) | |
18 | g.49974444C>G | CA402432601 | MYO5B | c.1025G>C c.1228G>C (p.Ala410Pro) c.1225G>C (p.Ala409Pro) | |
18 | g.49974444C>T | CA402432604 | MYO5B | c.1025G>A c.1228G>A (p.Ala410Thr) c.1225G>A (p.Ala409Thr) | |
18 | g.49974445A= | CA2302477538 | MYO5B | c.1024T= c.1227T= (p.Tyr409=) c.1224T= (p.Tyr408=) | |
18 | g.49974445A>C | CA8961604 | MYO5B | c.1024T>G c.1227T>G (p.Tyr409Ter) c.1224T>G (p.Tyr408Ter) | dbSNP ExAC gnomAD v2 |
18 | g.49974445A>G | CA503991930 | MYO5B | c.1024T>C c.1227T>C (p.Tyr409=) c.1224T>C (p.Tyr408=) | |
18 | g.49974445A>T | CA402432607 | MYO5B | c.1024T>A c.1227T>A (p.Tyr409Ter) c.1224T>A (p.Tyr408Ter) | |
18 | g.49974446T>A | CA402432625 | MYO5B | c.1023A>T c.1226A>T (p.Tyr409Phe) c.1223A>T (p.Tyr408Phe) | |
18 | g.49974446T>C | CA402432626 | MYO5B | c.1023A>G c.1226A>G (p.Tyr409Cys) c.1223A>G (p.Tyr408Cys) | |
18 | g.49974446T>G | CA402432628 | MYO5B | c.1023A>C c.1226A>C (p.Tyr409Ser) c.1223A>C (p.Tyr408Ser) | |
18 | g.49974447A>C | CA402432629 | MYO5B | c.1022T>G c.1225T>G (p.Tyr409Asp) c.1222T>G (p.Tyr408Asp) | |
18 | g.49974447A>G | CA402432631 | MYO5B | c.1022T>C c.1225T>C (p.Tyr409His) c.1222T>C (p.Tyr408His) | |
18 | g.49974447A>T | CA402432634 | MYO5B | c.1022T>A c.1225T>A (p.Tyr409Asn) c.1222T>A (p.Tyr408Asn) | |
18 | g.49974448G>A | CA503991932 | MYO5B | c.1021C>T c.1224C>T (p.Ile408=) c.1221C>T (p.Ile407=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.49974448G>C | CA402432636 | MYO5B | c.1021C>G c.1224C>G (p.Ile408Met) c.1221C>G (p.Ile407Met) | gnomAD v4 |
18 | g.49974448G= | CA2302477539 | MYO5B | c.1021C= c.1224C= (p.Ile408=) c.1221C= (p.Ile407=) | |
18 | g.49974448G>T | CA503991933 | MYO5B | c.1021C>A c.1224C>A (p.Ile408=) c.1221C>A (p.Ile407=) | |
18 | g.49974449A>C | CA402432643 | MYO5B | c.1020T>G c.1223T>G (p.Ile408Ser) c.1220T>G (p.Ile407Ser) | |
18 | g.49974449A>G | CA402432642 | MYO5B | c.1020T>C c.1223T>C (p.Ile408Thr) c.1220T>C (p.Ile407Thr) | |
18 | g.49974449A>T | CA402432639 | MYO5B | c.1020T>A c.1223T>A (p.Ile408Asn) c.1220T>A (p.Ile407Asn) | |
18 | g.49974450T>A | CA402432646 | MYO5B | c.1019A>T c.1222A>T (p.Ile408Phe) c.1219A>T (p.Ile407Phe) | ClinVar dbSNP |
18 | g.49974450T>C | CA402432648 | MYO5B | c.1019A>G c.1222A>G (p.Ile408Val) c.1219A>G (p.Ile407Val) | ClinVar dbSNP |
18 | g.49974450T>G | CA402432650 | MYO5B | c.1019A>C c.1222A>C (p.Ile408Leu) c.1219A>C (p.Ile407Leu) | |
18 | g.49974450T= | CA2302477540 | MYO5B | c.1019A= c.1222A= (p.Ile408=) c.1219A= (p.Ile407=) | |
18 | g.49974451G>A | CA503991935 | MYO5B | c.1018C>T c.1221C>T (p.His407=) c.1218C>T (p.His406=) | ClinVar dbSNP gnomAD v4 |
18 | g.49974451G>C | CA402432652 | MYO5B | c.1018C>G c.1221C>G (p.His407Gln) c.1218C>G (p.His406Gln) | |
18 | g.49974451G= | CA2302477541 | MYO5B | c.1018C= c.1221C= (p.His407=) c.1218C= (p.His406=) | |
18 | g.49974451G>T | CA402432654 | MYO5B | c.1018C>A c.1221C>A (p.His407Gln) c.1218C>A (p.His406Gln) | |
18 | g.49974452T>A | CA402432655 | MYO5B | c.1017A>T c.1220A>T (p.His407Leu) c.1217A>T (p.His406Leu) | ClinVar dbSNP gnomAD v2 |
18 | g.49974452T>C | CA402432656 | MYO5B | c.1017A>G c.1220A>G (p.His407Arg) c.1217A>G (p.His406Arg) | |
18 | g.49974452T>G | CA402432657 | MYO5B | c.1017A>C c.1220A>C (p.His407Pro) c.1217A>C (p.His406Pro) | |
18 | g.49974452T= | CA2302477542 | MYO5B | c.1017A= c.1220A= (p.His407=) c.1217A= (p.His406=) | |
18 | g.49974453G>A | CA402432659 | MYO5B | c.1016C>T c.1219C>T (p.His407Tyr) c.1216C>T (p.His406Tyr) | |
18 | g.49974453G>C | CA402432661 | MYO5B | c.1016C>G c.1219C>G (p.His407Asp) c.1216C>G (p.His406Asp) | |
18 | g.49974453G>T | CA402432662 | MYO5B | c.1016C>A c.1219C>A (p.His407Asn) c.1216C>A (p.His406Asn) | |
18 | g.49974454C>A | CA402432664 | MYO5B | c.1015G>T c.1218G>T (p.Lys406Asn) c.1215G>T (p.Lys405Asn) | |
18 | g.49974454C>G | CA402432667 | MYO5B | c.1015G>C c.1218G>C (p.Lys406Asn) c.1215G>C (p.Lys405Asn) | |
18 | g.49974454C>T | CA503991936 | MYO5B | c.1015G>A c.1218G>A (p.Lys406=) c.1215G>A (p.Lys405=) | |
18 | g.49974455T>A | CA402432671 | MYO5B | c.1014A>T c.1217A>T (p.Lys406Met) c.1214A>T (p.Lys405Met) | |
18 | g.49974455T>C | CA402432672 | MYO5B | c.1014A>G c.1217A>G (p.Lys406Arg) c.1214A>G (p.Lys405Arg) | |
18 | g.49974455T>G | CA402432669 | MYO5B | c.1014A>C c.1217A>C (p.Lys406Thr) c.1214A>C (p.Lys405Thr) | |
18 | g.49974456T>A | CA8961605 | MYO5B | c.1013A>T c.1216A>T (p.Lys406Ter) c.1213A>T (p.Lys405Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.49974456T>C | CA402432676 | MYO5B | c.1013A>G c.1216A>G (p.Lys406Glu) c.1213A>G (p.Lys405Glu) | |
18 | g.49974456T>G | CA402432675 | MYO5B | c.1013A>C c.1216A>C (p.Lys406Gln) c.1213A>C (p.Lys405Gln) | |
18 | g.49974456T= | CA2302477543 | MYO5B | c.1013A= c.1216A= (p.Lys406=) c.1213A= (p.Lys405=) | |
18 | g.49974457C>A | CA503991938 | MYO5B | c.1012G>T c.1215G>T (p.Ala405=) c.1212G>T (p.Ala404=) | |
18 | g.49974457C= | CA2302477544 | MYO5B | c.1012G= c.1215G= (p.Ala405=) c.1212G= (p.Ala404=) | |
18 | g.49974457C>G | CA503991939 | MYO5B | c.1012G>C c.1215G>C (p.Ala405=) c.1212G>C (p.Ala404=) | |
18 | g.49974457C>T | CA8961606 | MYO5B | c.1012G>A c.1215G>A (p.Ala405=) c.1212G>A (p.Ala404=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.49974458G>A | CA8961607 | MYO5B | c.1011C>T c.1214C>T (p.Ala405Val) c.1211C>T (p.Ala404Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
18 | g.49974458G>C | CA402432679 | MYO5B | c.1011C>G c.1214C>G (p.Ala405Gly) c.1211C>G (p.Ala404Gly) | |
18 | g.49974458G= | CA2302477545 | MYO5B | c.1011C= c.1214C= (p.Ala405=) c.1211C= (p.Ala404=) | |
18 | g.49974458G>T | CA402432681 | MYO5B | c.1011C>A c.1214C>A (p.Ala405Glu) c.1211C>A (p.Ala404Glu) | |
18 | g.49974459C>A | CA402432685 | MYO5B | c.1010G>T c.1213G>T (p.Ala405Ser) c.1210G>T (p.Ala404Ser) | |
18 | g.49974459C>G | CA402432687 | MYO5B | c.1010G>C c.1213G>C (p.Ala405Pro) c.1210G>C (p.Ala404Pro) | |
18 | g.49974459C>T | CA402432688 | MYO5B | c.1010G>A c.1213G>A (p.Ala405Thr) c.1210G>A (p.Ala404Thr) |