Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.138947216G>A | CA128236275 | SIL1 | c.1287C>T (p.Tyr429=) c.1308C>T (p.Tyr436=) n.622C>T c.1317C>T (p.Tyr439=) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.138947216G>C | CA361136523 | SIL1 | c.1287C>G (p.Tyr429Ter) c.1308C>G (p.Tyr436Ter) n.622C>G c.1317C>G (p.Tyr439Ter) | |
5 | g.138947216G= | CA1586100224 | SIL1 | c.1287C= (p.Tyr429=) c.1308C= (p.Tyr436=) n.622C= c.1317C= (p.Tyr439=) | |
5 | g.138947216G>T | CA361136524 | SIL1 | c.1287C>A (p.Tyr429Ter) c.1308C>A (p.Tyr436Ter) n.622C>A c.1317C>A (p.Tyr439Ter) | |
5 | g.138947217T>A | CA128236276 | SIL1 | c.1286A>T (p.Tyr429Phe) c.1307A>T (p.Tyr436Phe) n.621A>T c.1316A>T (p.Tyr439Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.138947217T>C | CA361136525 | SIL1 | c.1286A>G (p.Tyr429Cys) c.1307A>G (p.Tyr436Cys) n.621A>G c.1316A>G (p.Tyr439Cys) | |
5 | g.138947217T>G | CA361136526 | SIL1 | c.1286A>C (p.Tyr429Ser) c.1307A>C (p.Tyr436Ser) n.621A>C c.1316A>C (p.Tyr439Ser) | |
5 | g.138947217T= | CA1586100225 | SIL1 | c.1286A= (p.Tyr429=) c.1307A= (p.Tyr436=) n.621A= c.1316A= (p.Tyr439=) | |
5 | g.138947218A>C | CA361136527 | SIL1 | c.1285T>G (p.Tyr429Asp) c.1306T>G (p.Tyr436Asp) n.620T>G c.1315T>G (p.Tyr439Asp) | |
5 | g.138947218A>G | CA361136528 | SIL1 | c.1285T>C (p.Tyr429His) c.1306T>C (p.Tyr436His) n.620T>C c.1315T>C (p.Tyr439His) | gnomAD v4 |
5 | g.138947218A>T | CA361136529 | SIL1 | c.1285T>A (p.Tyr429Asn) c.1306T>A (p.Tyr436Asn) n.620T>A c.1315T>A (p.Tyr439Asn) | |
5 | g.138947219C>A | CA361136530 | SIL1 | c.1284G>T (p.Glu428Asp) c.1305G>T (p.Glu435Asp) n.619G>T c.1314G>T (p.Glu438Asp) | |
5 | g.138947219C>G | CA361136531 | SIL1 | c.1284G>C (p.Glu428Asp) c.1305G>C (p.Glu435Asp) n.619G>C c.1314G>C (p.Glu438Asp) | |
5 | g.138947219C>T | CA446793266 | SIL1 | c.1284G>A (p.Glu428=) c.1305G>A (p.Glu435=) n.619G>A c.1314G>A (p.Glu438=) | |
5 | g.138947220T>A | CA361136532 | SIL1 | c.1283A>T (p.Glu428Val) c.1304A>T (p.Glu435Val) n.618A>T c.1313A>T (p.Glu438Val) | |
5 | g.138947220T>C | CA361136533 | SIL1 | c.1283A>G (p.Glu428Gly) c.1304A>G (p.Glu435Gly) n.618A>G c.1313A>G (p.Glu438Gly) | |
5 | g.138947220T>G | CA361136534 | SIL1 | c.1283A>C (p.Glu428Ala) c.1304A>C (p.Glu435Ala) n.618A>C c.1313A>C (p.Glu438Ala) | |
5 | g.138947221C>A | CA361136536 | SIL1 | c.1282G>T (p.Glu428Ter) c.1303G>T (p.Glu435Ter) n.617G>T c.1312G>T (p.Glu438Ter) | |
5 | g.138947221C= | CA1586100226 | SIL1 | c.1282G= (p.Glu428=) c.1303G= (p.Glu435=) n.617G= c.1312G= (p.Glu438=) | |
5 | g.138947221C>G | CA3432330 | SIL1 | c.1282G>C (p.Glu428Gln) c.1303G>C (p.Glu435Gln) n.617G>C c.1312G>C (p.Glu438Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.138947221C>T | CA361136535 | SIL1 | c.1282G>A (p.Glu428Lys) c.1303G>A (p.Glu435Lys) n.617G>A c.1312G>A (p.Glu438Lys) | |
5 | g.138947224_138947230del | CA2695205311 | SIL1 | c.1276_1282del (p.Gln426SerfsTer30) c.1297_1303del (p.Gln433SerfsTer30) n.611_617del c.1306_1312del (p.Gln436SerfsTer30) | |
5 | g.138947222A= | CA1586100227 | SIL1 | c.1281T= (p.Ala427=) c.1302T= (p.Ala434=) n.616T= c.1311T= (p.Ala437=) | |
5 | g.138947222A>C | CA446793267 | SIL1 | c.1281T>G (p.Ala427=) c.1302T>G (p.Ala434=) n.616T>G c.1311T>G (p.Ala437=) | |
5 | g.138947222A>G | CA446793269 | SIL1 | c.1281T>C (p.Ala427=) c.1302T>C (p.Ala434=) n.616T>C c.1311T>C (p.Ala437=) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.138947222A>T | CA446793268 | SIL1 | c.1281T>A (p.Ala427=) c.1302T>A (p.Ala434=) n.616T>A c.1311T>A (p.Ala437=) | |
5 | g.138947223G>A | CA361136537 | SIL1 | c.1280C>T (p.Ala427Val) c.1301C>T (p.Ala434Val) n.615C>T c.1310C>T (p.Ala437Val) | |
5 | g.138947223G>C | CA361136538 | SIL1 | c.1280C>G (p.Ala427Gly) c.1301C>G (p.Ala434Gly) n.615C>G c.1310C>G (p.Ala437Gly) | |
5 | g.138947223G>T | CA361136539 | SIL1 | c.1280C>A (p.Ala427Asp) c.1301C>A (p.Ala434Asp) n.615C>A c.1310C>A (p.Ala437Asp) | |
5 | g.138947225_138947228del | CA2675501690 | SIL1 | c.1277_1280del (p.Gln426LeufsTer?) c.1298_1301del (p.Gln433LeufsTer?) n.612_615del c.1307_1310del (p.Gln436LeufsTer?) | gnomAD v4 |
5 | g.138947224C>A | CA361136540 | SIL1 | c.1279G>T (p.Ala427Ser) c.1300G>T (p.Ala434Ser) n.614G>T c.1309G>T (p.Ala437Ser) | ClinVar dbSNP gnomAD v4 |
5 | g.138947224C= | CA1586100228 | SIL1 | c.1279G= (p.Ala427=) c.1300G= (p.Ala434=) n.614G= c.1309G= (p.Ala437=) | |
5 | g.138947224C>G | CA361136541 | SIL1 | c.1279G>C (p.Ala427Pro) c.1300G>C (p.Ala434Pro) n.614G>C c.1309G>C (p.Ala437Pro) | |
5 | g.138947224C>T | CA3432331 | SIL1 | c.1279G>A (p.Ala427Thr) c.1300G>A (p.Ala434Thr) n.614G>A c.1309G>A (p.Ala437Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.138947224_138947243delinsGTG | CA2695205312 | SIL1 | c.1260_1279delinsCAC (p.Arg420SerfsTer3) c.1281_1300delinsCAC (p.Arg427SerfsTer3) n.595_614delinsCAC c.1290_1309delinsCAC (p.Arg430SerfsTer3) | |
5 | g.138947225C>A | CA361136542 | SIL1 | c.1278G>T (p.Gln426His) c.1299G>T (p.Gln433His) n.613G>T c.1308G>T (p.Gln436His) | |
5 | g.138947225C= | CA1586100229 | SIL1 | c.1278G= (p.Gln426=) c.1299G= (p.Gln433=) n.613G= c.1308G= (p.Gln436=) | |
5 | g.138947225C>G | CA3432332 | SIL1 | c.1278G>C (p.Gln426His) c.1299G>C (p.Gln433His) n.613G>C c.1308G>C (p.Gln436His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.138947225C>T | CA446793270 | SIL1 | c.1278G>A (p.Gln426=) c.1299G>A (p.Gln433=) n.613G>A c.1308G>A (p.Gln436=) | |
5 | g.138947226T>A | CA361136543 | SIL1 | c.1277A>T (p.Gln426Leu) c.1298A>T (p.Gln433Leu) n.612A>T c.1307A>T (p.Gln436Leu) | |
5 | g.138947226T>C | CA361136544 | SIL1 | c.1277A>G (p.Gln426Arg) c.1298A>G (p.Gln433Arg) n.612A>G c.1307A>G (p.Gln436Arg) | |
5 | g.138947226T>G | CA361136545 | SIL1 | c.1277A>C (p.Gln426Pro) c.1298A>C (p.Gln433Pro) n.612A>C c.1307A>C (p.Gln436Pro) | |
5 | g.138947227G>A | CA361136547 | SIL1 | c.1276C>T (p.Gln426Ter) c.1297C>T (p.Gln433Ter) n.611C>T c.1306C>T (p.Gln436Ter) | |
5 | g.138947227G>C | CA361136548 | SIL1 | c.1276C>G (p.Gln426Glu) c.1297C>G (p.Gln433Glu) n.611C>G c.1306C>G (p.Gln436Glu) | |
5 | g.138947227G>T | CA361136546 | SIL1 | c.1276C>A (p.Gln426Lys) c.1297C>A (p.Gln433Lys) n.611C>A c.1306C>A (p.Gln436Lys) | |
5 | g.138947228C>A | CA446793271 | SIL1 | c.1275G>T (p.Leu425=) c.1296G>T (p.Leu432=) n.610G>T c.1305G>T (p.Leu435=) | gnomAD v4 |
5 | g.138947228C= | CA1586100230 | SIL1 | c.1275G= (p.Leu425=) c.1296G= (p.Leu432=) n.610G= c.1305G= (p.Leu435=) | |
5 | g.138947228C>G | CA446793272 | SIL1 | c.1275G>C (p.Leu425=) c.1296G>C (p.Leu432=) n.610G>C c.1305G>C (p.Leu435=) | |
5 | g.138947228C>T | CA446793273 | SIL1 | c.1275G>A (p.Leu425=) c.1296G>A (p.Leu432=) n.610G>A c.1305G>A (p.Leu435=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.138947229A= | CA1586100231 | SIL1 | c.1274T= (p.Leu425=) c.1295T= (p.Leu432=) n.609T= c.1304T= (p.Leu435=) | |
5 | g.138947229A>C | CA361136549 | SIL1 | c.1274T>G (p.Leu425Arg) c.1295T>G (p.Leu432Arg) n.609T>G c.1304T>G (p.Leu435Arg) | |
5 | g.138947229A>G | CA361136550 | SIL1 | c.1274T>C (p.Leu425Pro) c.1295T>C (p.Leu432Pro) n.609T>C c.1304T>C (p.Leu435Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.138947229A>T | CA361136551 | SIL1 | c.1274T>A (p.Leu425Gln) c.1295T>A (p.Leu432Gln) n.609T>A c.1304T>A (p.Leu435Gln) | |
5 | g.138947230G>A | CA3432333 | SIL1 | c.1273C>T (p.Leu425=) c.1294C>T (p.Leu432=) n.608C>T c.1303C>T (p.Leu435=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.138947230G>C | CA361136552 | SIL1 | c.1273C>G (p.Leu425Val) c.1294C>G (p.Leu432Val) n.608C>G c.1303C>G (p.Leu435Val) | |
5 | g.138947230G= | CA1586100232 | SIL1 | c.1273C= (p.Leu425=) c.1294C= (p.Leu432=) n.608C= c.1303C= (p.Leu435=) | |
5 | g.138947230G>T | CA361136553 | SIL1 | c.1273C>A (p.Leu425Met) c.1294C>A (p.Leu432Met) n.608C>A c.1303C>A (p.Leu435Met) | |
5 | g.138947230_138947242del | CA2675501701 | SIL1 | c.1261_1273del (p.Thr421CysfsTer?) c.1282_1294del (p.Thr428CysfsTer?) n.596_608del c.1291_1303del (p.Thr431CysfsTer?) | gnomAD v4 |
5 | g.138947231G>A | CA446793274 | SIL1 | c.1272C>T (p.Ser424=) c.1293C>T (p.Ser431=) n.607C>T c.1302C>T (p.Ser434=) | gnomAD v4 |
5 | g.138947231G>C | CA361136554 | SIL1 | c.1272C>G (p.Ser424Arg) c.1293C>G (p.Ser431Arg) n.607C>G c.1302C>G (p.Ser434Arg) | |
5 | g.138947231G>T | CA361136555 | SIL1 | c.1272C>A (p.Ser424Arg) c.1293C>A (p.Ser431Arg) n.607C>A c.1302C>A (p.Ser434Arg) | |
5 | g.138947232C>A | CA361136556 | SIL1 | c.1271G>T (p.Ser424Ile) c.1292G>T (p.Ser431Ile) n.606G>T c.1301G>T (p.Ser434Ile) | |
5 | g.138947232C>G | CA361136557 | SIL1 | c.1271G>C (p.Ser424Thr) c.1292G>C (p.Ser431Thr) n.606G>C c.1301G>C (p.Ser434Thr) | |
5 | g.138947232C>T | CA361136558 | SIL1 | c.1271G>A (p.Ser424Asn) c.1292G>A (p.Ser431Asn) n.606G>A c.1301G>A (p.Ser434Asn) | |
5 | g.138947233T>A | CA128236287 | SIL1 | c.1270A>T (p.Ser424Cys) c.1291A>T (p.Ser431Cys) n.605A>T c.1300A>T (p.Ser434Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.138947233T>C | CA361136559 | SIL1 | c.1270A>G (p.Ser424Gly) c.1291A>G (p.Ser431Gly) n.605A>G c.1300A>G (p.Ser434Gly) | |
5 | g.138947233T>G | CA361136560 | SIL1 | c.1270A>C (p.Ser424Arg) c.1291A>C (p.Ser431Arg) n.605A>C c.1300A>C (p.Ser434Arg) | |
5 | g.138947233T= | CA1586100233 | SIL1 | c.1270A= (p.Ser424=) c.1291A= (p.Ser431=) n.605A= c.1300A= (p.Ser434=) | |
5 | g.138947234G>A | CA3432334 | SIL1 | c.1269C>T (p.Ala423=) c.1290C>T (p.Ala430=) n.604C>T c.1299C>T (p.Ala433=) | ClinVar dbSNP ExAC gnomAD v2 |
5 | g.138947234G>C | CA446793275 | SIL1 | c.1269C>G (p.Ala423=) c.1290C>G (p.Ala430=) n.604C>G c.1299C>G (p.Ala433=) | |
5 | g.138947234G= | CA1586100234 | SIL1 | c.1269C= (p.Ala423=) c.1290C= (p.Ala430=) n.604C= c.1299C= (p.Ala433=) | |
5 | g.138947234G>T | CA446793276 | SIL1 | c.1269C>A (p.Ala423=) c.1290C>A (p.Ala430=) n.604C>A c.1299C>A (p.Ala433=) | |
5 | g.138947235G>A | CA361136561 | SIL1 | c.1268C>T (p.Ala423Val) c.1289C>T (p.Ala430Val) n.603C>T c.1298C>T (p.Ala433Val) | |
5 | g.138947235G>C | CA361136562 | SIL1 | c.1268C>G (p.Ala423Gly) c.1289C>G (p.Ala430Gly) n.603C>G c.1298C>G (p.Ala433Gly) | |
5 | g.138947235G>T | CA361136563 | SIL1 | c.1268C>A (p.Ala423Asp) c.1289C>A (p.Ala430Asp) n.603C>A c.1298C>A (p.Ala433Asp) | |
5 | g.138947236C>A | CA361136564 | SIL1 | c.1267G>T (p.Ala423Ser) c.1288G>T (p.Ala430Ser) n.602G>T c.1297G>T (p.Ala433Ser) | |
5 | g.138947236C>G | CA361136565 | SIL1 | c.1267G>C (p.Ala423Pro) c.1288G>C (p.Ala430Pro) n.602G>C c.1297G>C (p.Ala433Pro) | |
5 | g.138947236C>T | CA361136566 | SIL1 | c.1267G>A (p.Ala423Thr) c.1288G>A (p.Ala430Thr) n.602G>A c.1297G>A (p.Ala433Thr) | |
5 | g.138947237C>A | CA446793277 | SIL1 | c.1266G>T (p.Leu422=) c.1287G>T (p.Leu429=) n.601G>T c.1296G>T (p.Leu432=) | |
5 | g.138947237C>G | CA446793278 | SIL1 | c.1266G>C (p.Leu422=) c.1287G>C (p.Leu429=) n.601G>C c.1296G>C (p.Leu432=) | gnomAD v4 |
5 | g.138947237C>T | CA446793279 | SIL1 | c.1266G>A (p.Leu422=) c.1287G>A (p.Leu429=) n.601G>A c.1296G>A (p.Leu432=) | |
5 | g.138947238A>C | CA361136567 | SIL1 | c.1265T>G (p.Leu422Arg) c.1286T>G (p.Leu429Arg) n.600T>G c.1295T>G (p.Leu432Arg) | |
5 | g.138947238A>G | CA361136568 | SIL1 | c.1265T>C (p.Leu422Pro) c.1286T>C (p.Leu429Pro) n.600T>C c.1295T>C (p.Leu432Pro) | |
5 | g.138947238A>T | CA361136569 | SIL1 | c.1265T>A (p.Leu422Gln) c.1286T>A (p.Leu429Gln) n.600T>A c.1295T>A (p.Leu432Gln) | |
5 | g.138947239G>A | CA446793280 | SIL1 | c.1264C>T (p.Leu422=) c.1285C>T (p.Leu429=) n.599C>T c.1294C>T (p.Leu432=) | |
5 | g.138947239G>C | CA361136570 | SIL1 | c.1264C>G (p.Leu422Val) c.1285C>G (p.Leu429Val) n.599C>G c.1294C>G (p.Leu432Val) | |
5 | g.138947239G>T | CA361136571 | SIL1 | c.1264C>A (p.Leu422Met) c.1285C>A (p.Leu429Met) n.599C>A c.1294C>A (p.Leu432Met) | |
5 | g.138947240T>A | CA446793281 | SIL1 | c.1263A>T (p.Thr421=) c.1284A>T (p.Thr428=) n.598A>T c.1293A>T (p.Thr431=) | |
5 | g.138947240T>C | CA446793282 | SIL1 | c.1263A>G (p.Thr421=) c.1284A>G (p.Thr428=) n.598A>G c.1293A>G (p.Thr431=) | ClinVar dbSNP gnomAD v4 |
5 | g.138947240T>G | CA446793283 | SIL1 | c.1263A>C (p.Thr421=) c.1284A>C (p.Thr428=) n.598A>C c.1293A>C (p.Thr431=) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.138947240T= | CA1586100235 | SIL1 | c.1263A= (p.Thr421=) c.1284A= (p.Thr428=) n.598A= c.1293A= (p.Thr431=) | |
5 | g.138947241G>A | CA361136572 | SIL1 | c.1262C>T (p.Thr421Ile) c.1283C>T (p.Thr428Ile) n.597C>T c.1292C>T (p.Thr431Ile) | |
5 | g.138947241G>C | CA361136573 | SIL1 | c.1262C>G (p.Thr421Arg) c.1283C>G (p.Thr428Arg) n.597C>G c.1292C>G (p.Thr431Arg) | gnomAD v4 |
5 | g.138947241G>T | CA361136574 | SIL1 | c.1262C>A (p.Thr421Lys) c.1283C>A (p.Thr428Lys) n.597C>A c.1292C>A (p.Thr431Lys) | |
5 | g.138947242T>A | CA361136576 | SIL1 | c.1261A>T (p.Thr421Ser) c.1282A>T (p.Thr428Ser) n.596A>T c.1291A>T (p.Thr431Ser) | |
5 | g.138947242T>C | CA361136577 | SIL1 | c.1261A>G (p.Thr421Ala) c.1282A>G (p.Thr428Ala) n.596A>G c.1291A>G (p.Thr431Ala) | ClinVar gnomAD v4 |
5 | g.138947242T>G | CA361136575 | SIL1 | c.1261A>C (p.Thr421Pro) c.1282A>C (p.Thr428Pro) n.596A>C c.1291A>C (p.Thr431Pro) | |
5 | g.138947243C>A | CA361136579 | SIL1 | c.1260G>T (p.Arg420Ser) c.1281G>T (p.Arg427Ser) n.595G>T c.1290G>T (p.Arg430Ser) | |
5 | g.138947243C>G | CA361136578 | SIL1 | c.1260G>C (p.Arg420Ser) c.1281G>C (p.Arg427Ser) n.595G>C c.1290G>C (p.Arg430Ser) | |
5 | g.138947243C>T | CA446793284 | SIL1 | c.1260G>A (p.Arg420=) c.1281G>A (p.Arg427=) n.595G>A c.1290G>A (p.Arg430=) | gnomAD v4 |
5 | g.138947244C>A | CA361136580 | SIL1 | c.1259G>T (p.Arg420Met) c.1280G>T (p.Arg427Met) n.594G>T c.1289G>T (p.Arg430Met) | |
5 | g.138947244C>G | CA361136581 | SIL1 | c.1259G>C (p.Arg420Thr) c.1280G>C (p.Arg427Thr) n.594G>C c.1289G>C (p.Arg430Thr) | |
5 | g.138947244C>T | CA361136582 | SIL1 | c.1259G>A (p.Arg420Lys) c.1280G>A (p.Arg427Lys) n.594G>A c.1289G>A (p.Arg430Lys) | gnomAD v4 |
5 | g.138947245T>A | CA361136583 | SIL1 | c.1258A>T (p.Arg420Trp) c.1279A>T (p.Arg427Trp) n.593A>T c.1288A>T (p.Arg430Trp) | |
5 | g.138947245T>C | CA361136584 | SIL1 | c.1258A>G (p.Arg420Gly) c.1279A>G (p.Arg427Gly) n.593A>G c.1288A>G (p.Arg430Gly) | |
5 | g.138947245T>G | CA446793285 | SIL1 | c.1258A>C (p.Arg420=) c.1279A>C (p.Arg427=) n.593A>C c.1288A>C (p.Arg430=) | |
5 | g.138947246G>A | CA446793286 | SIL1 | c.1257C>T (p.Gly419=) c.1278C>T (p.Gly426=) n.592C>T c.1287C>T (p.Gly429=) | |
5 | g.138947246G>C | CA446793287 | SIL1 | c.1257C>G (p.Gly419=) c.1278C>G (p.Gly426=) n.592C>G c.1287C>G (p.Gly429=) | |
5 | g.138947246G>T | CA446793288 | SIL1 | c.1257C>A (p.Gly419=) c.1278C>A (p.Gly426=) n.592C>A c.1287C>A (p.Gly429=) | |
5 | g.138947247C>A | CA361136586 | SIL1 | c.1256G>T (p.Gly419Val) c.1277G>T (p.Gly426Val) n.591G>T c.1286G>T (p.Gly429Val) | |
5 | g.138947247C= | CA1586100236 | SIL1 | c.1256G= (p.Gly419=) c.1277G= (p.Gly426=) n.591G= c.1286G= (p.Gly429=) | |
5 | g.138947247C>G | CA361136585 | SIL1 | c.1256G>C (p.Gly419Ala) c.1277G>C (p.Gly426Ala) n.591G>C c.1286G>C (p.Gly429Ala) | |
5 | g.138947247C>T | CA3432335 | SIL1 | c.1256G>A (p.Gly419Asp) c.1277G>A (p.Gly426Asp) n.591G>A c.1286G>A (p.Gly429Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.138947248C>A | CA128236294 | SIL1 | c.1255G>T (p.Gly419Cys) c.1276G>T (p.Gly426Cys) n.590G>T c.1285G>T (p.Gly429Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.138947248C= | CA1586100237 | SIL1 | c.1255G= (p.Gly419=) c.1276G= (p.Gly426=) n.590G= c.1285G= (p.Gly429=) | |
5 | g.138947248C>G | CA361136587 | SIL1 | c.1255G>C (p.Gly419Arg) c.1276G>C (p.Gly426Arg) n.590G>C c.1285G>C (p.Gly429Arg) | |
5 | g.138947248C>T | CA223719 | SIL1 | c.1255G>A (p.Gly419Ser) c.1276G>A (p.Gly426Ser) n.590G>A c.1285G>A (p.Gly429Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.138947249G>A | CA446793472 | SIL1 | c.1254C>T (p.Leu418=) c.1275C>T (p.Leu425=) n.589C>T c.1284C>T (p.Leu428=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.138947249G>C | CA446793473 | SIL1 | c.1254C>G (p.Leu418=) c.1275C>G (p.Leu425=) n.589C>G c.1284C>G (p.Leu428=) | |
5 | g.138947249G= | CA1586100238 | SIL1 | c.1254C= (p.Leu418=) c.1275C= (p.Leu425=) n.589C= c.1284C= (p.Leu428=) | |
5 | g.138947249G>T | CA446793474 | SIL1 | c.1254C>A (p.Leu418=) c.1275C>A (p.Leu425=) n.589C>A c.1284C>A (p.Leu428=) | gnomAD v4 |
5 | g.138947250A>C | CA361136588 | SIL1 | c.1253T>G (p.Leu418Arg) c.1274T>G (p.Leu425Arg) n.588T>G c.1283T>G (p.Leu428Arg) | |
5 | g.138947250A>G | CA361136589 | SIL1 | c.1253T>C (p.Leu418Pro) c.1274T>C (p.Leu425Pro) n.588T>C c.1283T>C (p.Leu428Pro) | |
5 | g.138947250A>T | CA361136590 | SIL1 | c.1253T>A (p.Leu418His) c.1274T>A (p.Leu425His) n.588T>A c.1283T>A (p.Leu428His) | |
5 | g.138947251G>A | CA3432336 | SIL1 | c.1252C>T (p.Leu418Phe) c.1273C>T (p.Leu425Phe) n.587C>T c.1282C>T (p.Leu428Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.138947251G>C | CA361136592 | SIL1 | c.1252C>G (p.Leu418Val) c.1273C>G (p.Leu425Val) n.587C>G c.1282C>G (p.Leu428Val) | |
5 | g.138947251G= | CA1586100239 | SIL1 | c.1252C= (p.Leu418=) c.1273C= (p.Leu425=) n.587C= c.1282C= (p.Leu428=) | |
5 | g.138947251G>T | CA361136591 | SIL1 | c.1252C>A (p.Leu418Ile) c.1273C>A (p.Leu425Ile) n.587C>A c.1282C>A (p.Leu428Ile) | |
5 | g.138947252C>A | CA361136593 | SIL1 | c.1251G>T (p.Gln417His) c.1272G>T (p.Gln424His) n.586G>T c.1281G>T (p.Gln427His) | |
5 | g.138947252C>G | CA361136594 | SIL1 | c.1251G>C (p.Gln417His) c.1272G>C (p.Gln424His) n.586G>C c.1281G>C (p.Gln427His) | |
5 | g.138947252C>T | CA446793477 | SIL1 | c.1251G>A (p.Gln417=) c.1272G>A (p.Gln424=) n.586G>A c.1281G>A (p.Gln427=) | gnomAD v4 |
5 | g.138947253T>A | CA361136595 | SIL1 | c.1250A>T (p.Gln417Leu) c.1271A>T (p.Gln424Leu) n.585A>T c.1280A>T (p.Gln427Leu) | |
5 | g.138947253T>C | CA361136596 | SIL1 | c.1250A>G (p.Gln417Arg) c.1271A>G (p.Gln424Arg) n.585A>G c.1280A>G (p.Gln427Arg) | |
5 | g.138947253T>G | CA361136597 | SIL1 | c.1250A>C (p.Gln417Pro) c.1271A>C (p.Gln424Pro) n.585A>C c.1280A>C (p.Gln427Pro) | |
5 | g.138947254G>A | CA3432337 | SIL1 | c.1249C>T (p.Gln417Ter) c.1270C>T (p.Gln424Ter) n.584C>T c.1279C>T (p.Gln427Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.138947254G>C | CA361136598 | SIL1 | c.1249C>G (p.Gln417Glu) c.1270C>G (p.Gln424Glu) n.584C>G c.1279C>G (p.Gln427Glu) | |
5 | g.138947254G= | CA1586100240 | SIL1 | c.1249C= (p.Gln417=) c.1270C= (p.Gln424=) n.584C= c.1279C= (p.Gln427=) | |
5 | g.138947254G>T | CA361136599 | SIL1 | c.1249C>A (p.Gln417Lys) c.1270C>A (p.Gln424Lys) n.584C>A c.1279C>A (p.Gln427Lys) | gnomAD v4 |
5 | g.138947255G>A | CA446793478 | SIL1 | c.1248C>T (p.Pro416=) c.1269C>T (p.Pro423=) n.583C>T c.1278C>T (p.Pro426=) | gnomAD v4 |
5 | g.138947255G>C | CA446793479 | SIL1 | c.1248C>G (p.Pro416=) c.1269C>G (p.Pro423=) n.583C>G c.1278C>G (p.Pro426=) | |
5 | g.138947255G>T | CA446793480 | SIL1 | c.1248C>A (p.Pro416=) c.1269C>A (p.Pro423=) n.583C>A c.1278C>A (p.Pro426=) | |
5 | g.138947256G>A | CA361136600 | SIL1 | c.1247C>T (p.Pro416Leu) c.1268C>T (p.Pro423Leu) n.582C>T c.1277C>T (p.Pro426Leu) | gnomAD v4 |
5 | g.138947256G>C | CA361136601 | SIL1 | c.1247C>G (p.Pro416Arg) c.1268C>G (p.Pro423Arg) n.582C>G c.1277C>G (p.Pro426Arg) | gnomAD v4 |
5 | g.138947256G>T | CA361136602 | SIL1 | c.1247C>A (p.Pro416His) c.1268C>A (p.Pro423His) n.582C>A c.1277C>A (p.Pro426His) | ClinVar COSMIC |
5 | g.138947257G>A | CA361136603 | SIL1 | c.1246C>T (p.Pro416Ser) c.1267C>T (p.Pro423Ser) n.581C>T c.1276C>T (p.Pro426Ser) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.138947257G>C | CA361136605 | SIL1 | c.1246C>G (p.Pro416Ala) c.1267C>G (p.Pro423Ala) n.581C>G c.1276C>G (p.Pro426Ala) | |
5 | g.138947257G= | CA1586100241 | SIL1 | c.1246C= (p.Pro416=) c.1267C= (p.Pro423=) n.581C= c.1276C= (p.Pro426=) | |
5 | g.138947257G>T | CA361136604 | SIL1 | c.1246C>A (p.Pro416Thr) c.1267C>A (p.Pro423Thr) n.581C>A c.1276C>A (p.Pro426Thr) | |
5 | g.138947262_138947276del | CA2675501735 | SIL1 | c.1232_1246del (p.Arg411_Asp415del) c.1253_1267del (p.Arg418_Asp422del) n.567_581del c.1262_1276del (p.Arg421_Asp425del) | gnomAD v4 |
5 | g.138947258G>A | CA446793482 | SIL1 | c.1245C>T (p.Asp415=) c.1266C>T (p.Asp422=) n.580C>T c.1275C>T (p.Asp425=) | gnomAD v4 |
5 | g.138947258G>C | CA361136606 | SIL1 | c.1245C>G (p.Asp415Glu) c.1266C>G (p.Asp422Glu) n.580C>G c.1275C>G (p.Asp425Glu) | |
5 | g.138947258G= | CA1586100242 | SIL1 | c.1245C= (p.Asp415=) c.1266C= (p.Asp422=) n.580C= c.1275C= (p.Asp425=) | |
5 | g.138947258G>T | CA361136607 | SIL1 | c.1245C>A (p.Asp415Glu) c.1266C>A (p.Asp422Glu) n.580C>A c.1275C>A (p.Asp425Glu) | dbSNP |
5 | g.138947259T>A | CA361136608 | SIL1 | c.1244A>T (p.Asp415Val) c.1265A>T (p.Asp422Val) n.579A>T c.1274A>T (p.Asp425Val) | |
5 | g.138947259T>C | CA361136609 | SIL1 | c.1244A>G (p.Asp415Gly) c.1265A>G (p.Asp422Gly) n.579A>G c.1274A>G (p.Asp425Gly) | |
5 | g.138947259T>G | CA361136610 | SIL1 | c.1244A>C (p.Asp415Ala) c.1265A>C (p.Asp422Ala) n.579A>C c.1274A>C (p.Asp425Ala) | |
5 | g.138947260C>A | CA361136611 | SIL1 | c.1243G>T (p.Asp415Tyr) c.1264G>T (p.Asp422Tyr) n.578G>T c.1273G>T (p.Asp425Tyr) | |
5 | g.138947260C>G | CA361136612 | SIL1 | c.1243G>C (p.Asp415His) c.1264G>C (p.Asp422His) n.578G>C c.1273G>C (p.Asp425His) | |
5 | g.138947260C>T | CA361136613 | SIL1 | c.1243G>A (p.Asp415Asn) c.1264G>A (p.Asp422Asn) n.578G>A c.1273G>A (p.Asp425Asn) | |
5 | g.138947261C>A | CA361136614 | SIL1 | c.1242G>T (p.Gln414His) c.1263G>T (p.Gln421His) n.577G>T c.1272G>T (p.Gln424His) | |
5 | g.138947261C>G | CA361136615 | SIL1 | c.1242G>C (p.Gln414His) c.1263G>C (p.Gln421His) n.577G>C c.1272G>C (p.Gln424His) | |
5 | g.138947261C>T | CA446793486 | SIL1 | c.1242G>A (p.Gln414=) c.1263G>A (p.Gln421=) n.577G>A c.1272G>A (p.Gln424=) | gnomAD v4 |
5 | g.138947262T>A | CA361136616 | SIL1 | c.1241A>T (p.Gln414Leu) c.1262A>T (p.Gln421Leu) n.576A>T c.1271A>T (p.Gln424Leu) | |
5 | g.138947262T>C | CA361136617 | SIL1 | c.1241A>G (p.Gln414Arg) c.1262A>G (p.Gln421Arg) n.576A>G c.1271A>G (p.Gln424Arg) | |
5 | g.138947262T>G | CA361136618 | SIL1 | c.1241A>C (p.Gln414Pro) c.1262A>C (p.Gln421Pro) n.576A>C c.1271A>C (p.Gln424Pro) | |
5 | g.138947263G>A | CA361136619 | SIL1 | c.1240C>T (p.Gln414Ter) c.1261C>T (p.Gln421Ter) n.575C>T c.1270C>T (p.Gln424Ter) | gnomAD v4 |
5 | g.138947263G>C | CA361136621 | SIL1 | c.1240C>G (p.Gln414Glu) c.1261C>G (p.Gln421Glu) n.575C>G c.1270C>G (p.Gln424Glu) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.138947263G= | CA1586100243 | SIL1 | c.1240C= (p.Gln414=) c.1261C= (p.Gln421=) n.575C= c.1270C= (p.Gln424=) | |
5 | g.138947263G>T | CA361136620 | SIL1 | c.1240C>A (p.Gln414Lys) c.1261C>A (p.Gln421Lys) n.575C>A c.1270C>A (p.Gln424Lys) | |
5 | g.138947264A>C | CA446793487 | SIL1 | c.1239T>G (p.Arg413=) c.1260T>G (p.Arg420=) n.574T>G c.1269T>G (p.Arg423=) | |
5 | g.138947264A>G | CA446793488 | SIL1 | c.1239T>C (p.Arg413=) c.1260T>C (p.Arg420=) n.574T>C c.1269T>C (p.Arg423=) | |
5 | g.138947264A>T | CA446793489 | SIL1 | c.1239T>A (p.Arg413=) c.1260T>A (p.Arg420=) n.574T>A c.1269T>A (p.Arg423=) | |
5 | g.138947265C>A | CA3432338 | SIL1 | c.1238G>T (p.Arg413Leu) c.1259G>T (p.Arg420Leu) n.573G>T c.1268G>T (p.Arg423Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.138947265C= | CA1586100244 | SIL1 | c.1238G= (p.Arg413=) c.1259G= (p.Arg420=) n.573G= c.1268G= (p.Arg423=) | |
5 | g.138947265C>G | CA361136622 | SIL1 | c.1238G>C (p.Arg413Pro) c.1259G>C (p.Arg420Pro) n.573G>C c.1268G>C (p.Arg423Pro) | |
5 | g.138947265C>T | CA3432339 | SIL1 | c.1238G>A (p.Arg413His) c.1259G>A (p.Arg420His) n.573G>A c.1268G>A (p.Arg423His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.138947266G>A | CA3432340 | SIL1 | c.1237C>T (p.Arg413Cys) c.1258C>T (p.Arg420Cys) n.572C>T c.1267C>T (p.Arg423Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.138947266G>C | CA361136623 | SIL1 | c.1237C>G (p.Arg413Gly) c.1258C>G (p.Arg420Gly) n.572C>G c.1267C>G (p.Arg423Gly) | |
5 | g.138947266G= | CA1586100245 | SIL1 | c.1237C= (p.Arg413=) c.1258C= (p.Arg420=) n.572C= c.1267C= (p.Arg423=) | |
5 | g.138947266G>T | CA361136624 | SIL1 | c.1237C>A (p.Arg413Ser) c.1258C>A (p.Arg420Ser) n.572C>A c.1267C>A (p.Arg423Ser) | |
5 | g.138947267G>A | CA446793491 | SIL1 | c.1236C>T (p.Tyr412=) c.1257C>T (p.Tyr419=) n.571C>T c.1266C>T (p.Tyr422=) | gnomAD v4 |
5 | g.138947267G>C | CA361136625 | SIL1 | c.1236C>G (p.Tyr412Ter) c.1257C>G (p.Tyr419Ter) n.571C>G c.1266C>G (p.Tyr422Ter) | |
5 | g.138947267G>T | CA361136626 | SIL1 | c.1236C>A (p.Tyr412Ter) c.1257C>A (p.Tyr419Ter) n.571C>A c.1266C>A (p.Tyr422Ter) | |
5 | g.138947268T>A | CA361136627 | SIL1 | c.1235A>T (p.Tyr412Phe) c.1256A>T (p.Tyr419Phe) n.570A>T c.1265A>T (p.Tyr422Phe) | |
5 | g.138947268T>C | CA361136628 | SIL1 | c.1235A>G (p.Tyr412Cys) c.1256A>G (p.Tyr419Cys) n.570A>G c.1265A>G (p.Tyr422Cys) | |
5 | g.138947268T>G | CA361136629 | SIL1 | c.1235A>C (p.Tyr412Ser) c.1256A>C (p.Tyr419Ser) n.570A>C c.1265A>C (p.Tyr422Ser) | |
5 | g.138947269A>C | CA361136631 | SIL1 | c.1234T>G (p.Tyr412Asp) c.1255T>G (p.Tyr419Asp) n.569T>G c.1264T>G (p.Tyr422Asp) | |
5 | g.138947269A>G | CA361136632 | SIL1 | c.1234T>C (p.Tyr412His) c.1255T>C (p.Tyr419His) n.569T>C c.1264T>C (p.Tyr422His) | |
5 | g.138947269A>T | CA361136630 | SIL1 | c.1234T>A (p.Tyr412Asn) c.1255T>A (p.Tyr419Asn) n.569T>A c.1264T>A (p.Tyr422Asn) | |
5 | g.138947270G>A | CA446793495 | SIL1 | c.1233C>T (p.Arg411=) c.1254C>T (p.Arg418=) n.568C>T c.1263C>T (p.Arg421=) | |
5 | g.138947270G>C | CA446793496 | SIL1 | c.1233C>G (p.Arg411=) c.1254C>G (p.Arg418=) n.568C>G c.1263C>G (p.Arg421=) | |
5 | g.138947270G>T | CA446793493 | SIL1 | c.1233C>A (p.Arg411=) c.1254C>A (p.Arg418=) n.568C>A c.1263C>A (p.Arg421=) | |
5 | g.138947271C>A | CA361136633 | SIL1 | c.1232G>T (p.Arg411Leu) c.1253G>T (p.Arg418Leu) n.567G>T c.1262G>T (p.Arg421Leu) | |
5 | g.138947271C= | CA1586100246 | SIL1 | c.1232G= (p.Arg411=) c.1253G= (p.Arg418=) n.567G= c.1262G= (p.Arg421=) | |
5 | g.138947271C>G | CA361136634 | SIL1 | c.1232G>C (p.Arg411Pro) c.1253G>C (p.Arg418Pro) n.567G>C c.1262G>C (p.Arg421Pro) | |
5 | g.138947271C>T | CA3432341 | SIL1 | c.1232G>A (p.Arg411His) c.1253G>A (p.Arg418His) n.567G>A c.1262G>A (p.Arg421His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.138947272G>A | CA3432342 | SIL1 | c.1231C>T (p.Arg411Cys) c.1252C>T (p.Arg418Cys) n.566C>T c.1261C>T (p.Arg421Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.138947272G>C | CA3432343 | SIL1 | c.1231C>G (p.Arg411Gly) c.1252C>G (p.Arg418Gly) n.566C>G c.1261C>G (p.Arg421Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.138947272G= | CA1586100247 | SIL1 | c.1231C= (p.Arg411=) c.1252C= (p.Arg418=) n.566C= c.1261C= (p.Arg421=) | |
5 | g.138947272G>T | CA361136635 | SIL1 | c.1231C>A (p.Arg411Ser) c.1252C>A (p.Arg418Ser) n.566C>A c.1261C>A (p.Arg421Ser) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.138947273G>A | CA446793497 | SIL1 | c.1230C>T (p.Asp410=) c.1251C>T (p.Asp417=) n.565C>T c.1260C>T (p.Asp420=) | |
5 | g.138947273G>C | CA361136637 | SIL1 | c.1230C>G (p.Asp410Glu) c.1251C>G (p.Asp417Glu) n.565C>G c.1260C>G (p.Asp420Glu) | |
5 | g.138947273G>T | CA361136636 | SIL1 | c.1230C>A (p.Asp410Glu) c.1251C>A (p.Asp417Glu) n.565C>A c.1260C>A (p.Asp420Glu) | |
5 | g.138947274T>A | CA361136638 | SIL1 | c.1229A>T (p.Asp410Val) c.1250A>T (p.Asp417Val) n.564A>T c.1259A>T (p.Asp420Val) | |
5 | g.138947274T>C | CA361136639 | SIL1 | c.1229A>G (p.Asp410Gly) c.1250A>G (p.Asp417Gly) n.564A>G c.1259A>G (p.Asp420Gly) | |
5 | g.138947274T>G | CA361136640 | SIL1 | c.1229A>C (p.Asp410Ala) c.1250A>C (p.Asp417Ala) n.564A>C c.1259A>C (p.Asp420Ala) | |
5 | g.138947275C>A | CA361136641 | SIL1 | c.1228G>T (p.Asp410Tyr) c.1249G>T (p.Asp417Tyr) n.563G>T c.1258G>T (p.Asp420Tyr) | |
5 | g.138947275C>G | CA361136642 | SIL1 | c.1228G>C (p.Asp410His) c.1249G>C (p.Asp417His) n.563G>C c.1258G>C (p.Asp420His) | |
5 | g.138947275C>T | CA361136643 | SIL1 | c.1228G>A (p.Asp410Asn) c.1249G>A (p.Asp417Asn) n.563G>A c.1258G>A (p.Asp420Asn) | |
5 | g.138947276C>A | CA446793498 | SIL1 | c.1227G>T (p.Arg409=) c.1248G>T (p.Arg416=) n.562G>T c.1257G>T (p.Arg419=) | |
5 | g.138947276C>G | CA446793500 | SIL1 | c.1227G>C (p.Arg409=) c.1248G>C (p.Arg416=) n.562G>C c.1257G>C (p.Arg419=) | |
5 | g.138947276C>T | CA446793501 | SIL1 | c.1227G>A (p.Arg409=) c.1248G>A (p.Arg416=) n.562G>A c.1257G>A (p.Arg419=) | |
5 | g.138947277C>A | CA361136645 | SIL1 | c.1226G>T (p.Arg409Leu) c.1247G>T (p.Arg416Leu) n.561G>T c.1256G>T (p.Arg419Leu) | |
5 | g.138947277C= | CA1586100248 | SIL1 | c.1226G= (p.Arg409=) c.1247G= (p.Arg416=) n.561G= c.1256G= (p.Arg419=) | |
5 | g.138947277C>G | CA361136644 | SIL1 | c.1226G>C (p.Arg409Pro) c.1247G>C (p.Arg416Pro) n.561G>C c.1256G>C (p.Arg419Pro) | |
5 | g.138947277C>T | CA3432344 | SIL1 | c.1226G>A (p.Arg409Gln) c.1247G>A (p.Arg416Gln) n.561G>A c.1256G>A (p.Arg419Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
5 | g.138947278G>A | CA3432345 | SIL1 | c.1225C>T (p.Arg409Trp) c.1246C>T (p.Arg416Trp) n.560C>T c.1255C>T (p.Arg419Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.138947278G>C | CA361136646 | SIL1 | c.1225C>G (p.Arg409Gly) c.1246C>G (p.Arg416Gly) n.560C>G c.1255C>G (p.Arg419Gly) | |
5 | g.138947278G= | CA1586100249 | SIL1 | c.1225C= (p.Arg409=) c.1246C= (p.Arg416=) n.560C= c.1255C= (p.Arg419=) | |
5 | g.138947278G>T | CA446793502 | SIL1 | c.1225C>A (p.Arg409=) c.1246C>A (p.Arg416=) n.560C>A c.1255C>A (p.Arg419=) | |
5 | g.138947279G>A | CA446793503 | SIL1 | c.1224C>T (p.Cys408=) c.1245C>T (p.Cys415=) n.559C>T c.1254C>T (p.Cys418=) | ClinVar dbSNP gnomAD v4 |
5 | g.138947279G>C | CA361136647 | SIL1 | c.1224C>G (p.Cys408Trp) c.1245C>G (p.Cys415Trp) n.559C>G c.1254C>G (p.Cys418Trp) | |
5 | g.138947279G= | CA1586100250 | SIL1 | c.1224C= (p.Cys408=) c.1245C= (p.Cys415=) n.559C= c.1254C= (p.Cys418=) | |
5 | g.138947279G>T | CA361136648 | SIL1 | c.1224C>A (p.Cys408Ter) c.1245C>A (p.Cys415Ter) n.559C>A c.1254C>A (p.Cys418Ter) | |
5 | g.138947280C>A | CA361136649 | SIL1 | c.1223G>T (p.Cys408Phe) c.1244G>T (p.Cys415Phe) n.558G>T c.1253G>T (p.Cys418Phe) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.138947280C= | CA1586100251 | SIL1 | c.1223G= (p.Cys408=) c.1244G= (p.Cys415=) n.558G= c.1253G= (p.Cys418=) | |
5 | g.138947280C>G | CA361136650 | SIL1 | c.1223G>C (p.Cys408Ser) c.1244G>C (p.Cys415Ser) n.558G>C c.1253G>C (p.Cys418Ser) | |
5 | g.138947280C>T | CA361136651 | SIL1 | c.1223G>A (p.Cys408Tyr) c.1244G>A (p.Cys415Tyr) n.558G>A c.1253G>A (p.Cys418Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
5 | g.138947281A>C | CA361136652 | SIL1 | c.1222T>G (p.Cys408Gly) c.1243T>G (p.Cys415Gly) n.557T>G c.1252T>G (p.Cys418Gly) | |
5 | g.138947281A>G | CA361136653 | SIL1 | c.1222T>C (p.Cys408Arg) c.1243T>C (p.Cys415Arg) n.557T>C c.1252T>C (p.Cys418Arg) | |
5 | g.138947281A>T | CA361136654 | SIL1 | c.1222T>A (p.Cys408Ser) c.1243T>A (p.Cys415Ser) n.557T>A c.1252T>A (p.Cys418Ser) | |
5 | g.138947282G>A | CA446793507 | SIL1 | c.1221C>T (p.Thr407=) c.1242C>T (p.Thr414=) n.556C>T c.1251C>T (p.Thr417=) | |
5 | g.138947282G>C | CA446793508 | SIL1 | c.1221C>G (p.Thr407=) c.1242C>G (p.Thr414=) n.556C>G c.1251C>G (p.Thr417=) | |
5 | g.138947282G>T | CA446793509 | SIL1 | c.1221C>A (p.Thr407=) c.1242C>A (p.Thr414=) n.556C>A c.1251C>A (p.Thr417=) | |
5 | g.138947283G>A | CA361136655 | SIL1 | c.1220C>T (p.Thr407Ile) c.1241C>T (p.Thr414Ile) n.555C>T c.1250C>T (p.Thr417Ile) | gnomAD v4 |
5 | g.138947283G>C | CA361136656 | SIL1 | c.1220C>G (p.Thr407Ser) c.1241C>G (p.Thr414Ser) n.555C>G c.1250C>G (p.Thr417Ser) | gnomAD v4 |
5 | g.138947283G>T | CA361136657 | SIL1 | c.1220C>A (p.Thr407Asn) c.1241C>A (p.Thr414Asn) n.555C>A c.1250C>A (p.Thr417Asn) | |
5 | g.138947284T>A | CA361136658 | SIL1 | c.1219A>T (p.Thr407Ser) c.1240A>T (p.Thr414Ser) n.554A>T c.1249A>T (p.Thr417Ser) | |
5 | g.138947284T>C | CA361136660 | SIL1 | c.1219A>G (p.Thr407Ala) c.1240A>G (p.Thr414Ala) n.554A>G c.1249A>G (p.Thr417Ala) | |
5 | g.138947284T>G | CA361136659 | SIL1 | c.1219A>C (p.Thr407Pro) c.1240A>C (p.Thr414Pro) n.554A>C c.1249A>C (p.Thr417Pro) | dbSNP |
5 | g.138947284T= | CA1586100252 | SIL1 | c.1219A= (p.Thr407=) c.1240A= (p.Thr414=) n.554A= c.1249A= (p.Thr417=) | |
5 | g.138947285G>A | CA446793513 | SIL1 | c.1218C>T (p.Thr406=) c.1239C>T (p.Thr413=) n.553C>T c.1248C>T (p.Thr416=) | ClinVar gnomAD v4 |
5 | g.138947285G>C | CA446793514 | SIL1 | c.1218C>G (p.Thr406=) c.1239C>G (p.Thr413=) n.553C>G c.1248C>G (p.Thr416=) | |
5 | g.138947285G= | CA1586100253 | SIL1 | c.1218C= (p.Thr406=) c.1239C= (p.Thr413=) n.553C= c.1248C= (p.Thr416=) | |
5 | g.138947285G>T | CA446793515 | SIL1 | c.1218C>A (p.Thr406=) c.1239C>A (p.Thr413=) n.553C>A c.1248C>A (p.Thr416=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.138947286G>A | CA361136661 | SIL1 | c.1217C>T (p.Thr406Ile) c.1238C>T (p.Thr413Ile) n.552C>T c.1247C>T (p.Thr416Ile) | |
5 | g.138947286G>C | CA361136662 | SIL1 | c.1217C>G (p.Thr406Ser) c.1238C>G (p.Thr413Ser) n.552C>G c.1247C>G (p.Thr416Ser) | |
5 | g.138947286G>T | CA361136663 | SIL1 | c.1217C>A (p.Thr406Asn) c.1238C>A (p.Thr413Asn) n.552C>A c.1247C>A (p.Thr416Asn) | |
5 | g.138947287T>A | CA361136664 | SIL1 | c.1216A>T (p.Thr406Ser) c.1237A>T (p.Thr413Ser) n.551A>T c.1246A>T (p.Thr416Ser) | |
5 | g.138947287T>C | CA361136665 | SIL1 | c.1216A>G (p.Thr406Ala) c.1237A>G (p.Thr413Ala) n.551A>G c.1246A>G (p.Thr416Ala) | |
5 | g.138947287T>G | CA361136666 | SIL1 | c.1216A>C (p.Thr406Pro) c.1237A>C (p.Thr413Pro) n.551A>C c.1246A>C (p.Thr416Pro) | |
5 | g.138947288C>A | CA239356 | SIL1 | c.1215G>T (p.Leu405=) c.1236G>T (p.Leu412=) n.550G>T c.1245G>T (p.Leu415=) | ClinVar dbSNP gnomAD v4 |
5 | g.138947288C= | CA1586100254 | SIL1 | c.1215G= (p.Leu405=) c.1236G= (p.Leu412=) n.550G= c.1245G= (p.Leu415=) | |
5 | g.138947288C>G | CA446793516 | SIL1 | c.1215G>C (p.Leu405=) c.1236G>C (p.Leu412=) n.550G>C c.1245G>C (p.Leu415=) | |
5 | g.138947288C>T | CA446793517 | SIL1 | c.1215G>A (p.Leu405=) c.1236G>A (p.Leu412=) n.550G>A c.1245G>A (p.Leu415=) | gnomAD v4 |
5 | g.138947289A>C | CA361136667 | SIL1 | c.1214T>G (p.Leu405Arg) c.1235T>G (p.Leu412Arg) n.549T>G c.1244T>G (p.Leu415Arg) | |
5 | g.138947289A>G | CA361136668 | SIL1 | c.1214T>C (p.Leu405Pro) c.1235T>C (p.Leu412Pro) n.549T>C c.1244T>C (p.Leu415Pro) | |
5 | g.138947289A>T | CA361136669 | SIL1 | c.1214T>A (p.Leu405Gln) c.1235T>A (p.Leu412Gln) n.549T>A c.1244T>A (p.Leu415Gln) | |
5 | g.138947290G>A | CA446793521 | SIL1 | c.1213C>T (p.Leu405=) c.1234C>T (p.Leu412=) n.548C>T c.1243C>T (p.Leu415=) | gnomAD v4 |
5 | g.138947290G>C | CA361136670 | SIL1 | c.1213C>G (p.Leu405Val) c.1234C>G (p.Leu412Val) n.548C>G c.1243C>G (p.Leu415Val) | |
5 | g.138947290G>T | CA361136671 | SIL1 | c.1213C>A (p.Leu405Met) c.1234C>A (p.Leu412Met) n.548C>A c.1243C>A (p.Leu415Met) | |
5 | g.138947291G>A | CA446793522 | SIL1 | c.1212C>T (p.Leu404=) c.1233C>T (p.Leu411=) n.547C>T c.1242C>T (p.Leu414=) | |
5 | g.138947291G>C | CA446793523 | SIL1 | c.1212C>G (p.Leu404=) c.1233C>G (p.Leu411=) n.547C>G c.1242C>G (p.Leu414=) | gnomAD v4 |
5 | g.138947291G>T | CA446793524 | SIL1 | c.1212C>A (p.Leu404=) c.1233C>A (p.Leu411=) n.547C>A c.1242C>A (p.Leu414=) | |
5 | g.138947292A>C | CA361136673 | SIL1 | c.1211T>G (p.Leu404Arg) c.1232T>G (p.Leu411Arg) n.546T>G c.1241T>G (p.Leu414Arg) | |
5 | g.138947292A>G | CA361136674 | SIL1 | c.1211T>C (p.Leu404Pro) c.1232T>C (p.Leu411Pro) n.546T>C c.1241T>C (p.Leu414Pro) | |
5 | g.138947292A>T | CA361136672 | SIL1 | c.1211T>A (p.Leu404His) c.1232T>A (p.Leu411His) n.546T>A c.1241T>A (p.Leu414His) | |
5 | g.138947293G>A | CA361136675 | SIL1 | c.1210C>T (p.Leu404Phe) c.1231C>T (p.Leu411Phe) n.545C>T c.1240C>T (p.Leu414Phe) | |
5 | g.138947293G>C | CA361136676 | SIL1 | c.1210C>G (p.Leu404Val) c.1231C>G (p.Leu411Val) n.545C>G c.1240C>G (p.Leu414Val) | |
5 | g.138947293G>T | CA361136677 | SIL1 | c.1210C>A (p.Leu404Ile) c.1231C>A (p.Leu411Ile) n.545C>A c.1240C>A (p.Leu414Ile) | |
5 | g.138947294G>A | CA446793526 | SIL1 | c.1209C>T (p.Val403=) c.1230C>T (p.Val410=) n.544C>T c.1239C>T (p.Val413=) | dbSNP |
5 | g.138947294G>C | CA446793527 | SIL1 | c.1209C>G (p.Val403=) c.1230C>G (p.Val410=) n.544C>G c.1239C>G (p.Val413=) | |
5 | g.138947294G= | CA1586077099 | SIL1 | c.1209C= (p.Val403=) c.1230C= (p.Val410=) n.544C= c.1239C= (p.Val413=) | |
5 | g.138947294G>T | CA446793528 | SIL1 | c.1209C>A (p.Val403=) c.1230C>A (p.Val410=) n.544C>A c.1239C>A (p.Val413=) | |
5 | g.138947294_138947296delinsA | CA2695205313 | SIL1 | c.1207_1209delinsT (p.Val403SerfsTer25) c.1228_1230delinsT (p.Val410SerfsTer25) n.542_544delinsT c.1237_1239delinsT (p.Val413SerfsTer25) | |
5 | g.138947295A>C | CA361136678 | SIL1 | c.1208T>G (p.Val403Gly) c.1229T>G (p.Val410Gly) n.543T>G c.1238T>G (p.Val413Gly) | |
5 | g.138947295A>G | CA361136679 | SIL1 | c.1208T>C (p.Val403Ala) c.1229T>C (p.Val410Ala) n.543T>C c.1238T>C (p.Val413Ala) | |
5 | g.138947295A>T | CA361136680 | SIL1 | c.1208T>A (p.Val403Asp) c.1229T>A (p.Val410Asp) n.543T>A c.1238T>A (p.Val413Asp) | |
5 | g.138947296C>A | CA361136681 | SIL1 | c.1207G>T (p.Val403Phe) c.1228G>T (p.Val410Phe) n.542G>T c.1237G>T (p.Val413Phe) | |
5 | g.138947296C= | CA1586077106 | SIL1 | c.1207G= (p.Val403=) c.1228G= (p.Val410=) n.542G= c.1237G= (p.Val413=) | |
5 | g.138947296C>G | CA361136682 | SIL1 | c.1207G>C (p.Val403Leu) c.1228G>C (p.Val410Leu) n.542G>C c.1237G>C (p.Val413Leu) | |
5 | g.138947296C>T | CA3432346 | SIL1 | c.1207G>A (p.Val403Ile) c.1228G>A (p.Val410Ile) n.542G>A c.1237G>A (p.Val413Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.138947297G>A | CA3432347 | SIL1 | c.1206C>T (p.Gly402=) c.1227C>T (p.Gly409=) n.541C>T c.1236C>T (p.Gly412=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.138947297G>C | CA446793529 | SIL1 | c.1206C>G (p.Gly402=) c.1227C>G (p.Gly409=) n.541C>G c.1236C>G (p.Gly412=) | |
5 | g.138947297G= | CA1586077116 | SIL1 | c.1206C= (p.Gly402=) c.1227C= (p.Gly409=) n.541C= c.1236C= (p.Gly412=) | |
5 | g.138947297G>T | CA446793530 | SIL1 | c.1206C>A (p.Gly402=) c.1227C>A (p.Gly409=) n.541C>A c.1236C>A (p.Gly412=) | |
5 | g.138947297_138947298delinsGC | CA1586077120 | SIL1 | c.1205_1206delinsGC (p.Gly402=) c.1226_1227delinsGC (p.Gly409=) n.540_541delinsGC c.1235_1236delinsGC (p.Gly412=) | |
5 | g.138947298C>A | CA361136683 | SIL1 | c.1205G>T (p.Gly402Val) c.1226G>T (p.Gly409Val) n.540G>T c.1235G>T (p.Gly412Val) | dbSNP |
5 | g.138947298C= | CA1586077131 | SIL1 | c.1205G= (p.Gly402=) c.1226G= (p.Gly409=) n.540G= c.1235G= (p.Gly412=) | |
5 | g.138947298C>G | CA361136684 | SIL1 | c.1205G>C (p.Gly402Ala) c.1226G>C (p.Gly409Ala) n.540G>C c.1235G>C (p.Gly412Ala) | |
5 | g.138947298C>T | CA128236373 | SIL1 | c.1205G>A (p.Gly402Asp) c.1226G>A (p.Gly409Asp) n.540G>A c.1235G>A (p.Gly412Asp) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.138947300del | CA10605092 | SIL1 | c.1205del (p.Gly402AlafsTer4) c.1226del (p.Gly409AlafsTer4) n.540del c.1235del (p.Gly412AlafsTer4) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.138947299C>A | CA361136686 | SIL1 | c.1204G>T (p.Gly402Cys) c.1225G>T (p.Gly409Cys) n.539G>T c.1234G>T (p.Gly412Cys) | |
5 | g.138947299C= | CA1586077137 | SIL1 | c.1204G= (p.Gly402=) c.1225G= (p.Gly409=) n.539G= c.1234G= (p.Gly412=) | |
5 | g.138947299C>G | CA3432348 | SIL1 | c.1204G>C (p.Gly402Arg) c.1225G>C (p.Gly409Arg) n.539G>C c.1234G>C (p.Gly412Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.138947299C>T | CA361136685 | SIL1 | c.1204G>A (p.Gly402Ser) c.1225G>A (p.Gly409Ser) n.539G>A c.1234G>A (p.Gly412Ser) | |
5 | g.138947300C>A | CA446793534 | SIL1 | c.1203G>T (p.Leu401=) c.1224G>T (p.Leu408=) n.538G>T c.1233G>T (p.Leu411=) | |
5 | g.138947300C>G | CA446793533 | SIL1 | c.1203G>C (p.Leu401=) c.1224G>C (p.Leu408=) n.538G>C c.1233G>C (p.Leu411=) | |
5 | g.138947300C>T | CA446793532 | SIL1 | c.1203G>A (p.Leu401=) c.1224G>A (p.Leu408=) n.538G>A c.1233G>A (p.Leu411=) | |
5 | g.138947301del | CA2675501810 | SIL1 | c.1202del (p.Leu401ArgfsTer5) c.1223del (p.Leu408ArgfsTer5) n.537del c.1232del (p.Leu411ArgfsTer5) | gnomAD v4 |
5 | g.138947301A>C | CA361136688 | SIL1 | c.1202T>G (p.Leu401Arg) c.1223T>G (p.Leu408Arg) n.537T>G c.1232T>G (p.Leu411Arg) | |
5 | g.138947301A>G | CA361136687 | SIL1 | c.1202T>C (p.Leu401Pro) c.1223T>C (p.Leu408Pro) n.537T>C c.1232T>C (p.Leu411Pro) | |
5 | g.138947301A>T | CA361136689 | SIL1 | c.1202T>A (p.Leu401Gln) c.1223T>A (p.Leu408Gln) n.537T>A c.1232T>A (p.Leu411Gln) | |
5 | g.138947302G>A | CA446793535 | SIL1 | c.1201C>T (p.Leu401=) c.1222C>T (p.Leu408=) n.536C>T c.1231C>T (p.Leu411=) | |
5 | g.138947302G>C | CA361136690 | SIL1 | c.1201C>G (p.Leu401Val) c.1222C>G (p.Leu408Val) n.536C>G c.1231C>G (p.Leu411Val) | gnomAD v4 |
5 | g.138947302G>T | CA361136691 | SIL1 | c.1201C>A (p.Leu401Met) c.1222C>A (p.Leu408Met) n.536C>A c.1231C>A (p.Leu411Met) | |
5 | g.138947303T>A | CA446793536 | SIL1 | c.1200A>T (p.Thr400=) c.1221A>T (p.Thr407=) n.535A>T c.1230A>T (p.Thr410=) | |
5 | g.138947303T>C | CA446793537 | SIL1 | c.1200A>G (p.Thr400=) c.1221A>G (p.Thr407=) n.535A>G c.1230A>G (p.Thr410=) | gnomAD v4 COSMIC |
5 | g.138947303T>G | CA446793538 | SIL1 | c.1200A>C (p.Thr400=) c.1221A>C (p.Thr407=) n.535A>C c.1230A>C (p.Thr410=) | |
5 | g.138947304G>A | CA361136692 | SIL1 | c.1199C>T (p.Thr400Ile) c.1220C>T (p.Thr407Ile) n.534C>T c.1229C>T (p.Thr410Ile) | |
5 | g.138947304G>C | CA361136694 | SIL1 | c.1199C>G (p.Thr400Arg) c.1220C>G (p.Thr407Arg) n.534C>G c.1229C>G (p.Thr410Arg) | |
5 | g.138947304G>T | CA361136693 | SIL1 | c.1199C>A (p.Thr400Lys) c.1220C>A (p.Thr407Lys) n.534C>A c.1229C>A (p.Thr410Lys) | |
5 | g.138947305T>A | CA361136695 | SIL1 | c.1198A>T (p.Thr400Ser) c.1219A>T (p.Thr407Ser) n.533A>T c.1228A>T (p.Thr410Ser) | |
5 | g.138947305T>C | CA361136697 | SIL1 | c.1198A>G (p.Thr400Ala) c.1219A>G (p.Thr407Ala) n.533A>G c.1228A>G (p.Thr410Ala) | |
5 | g.138947305T>G | CA361136696 | SIL1 | c.1198A>C (p.Thr400Pro) c.1219A>C (p.Thr407Pro) n.533A>C c.1228A>C (p.Thr410Pro) | |
5 | g.138947306C>A | CA361136698 | SIL1 | c.1197G>T (p.Gln399His) c.1218G>T (p.Gln406His) n.532G>T c.1227G>T (p.Gln409His) | |
5 | g.138947306C>G | CA361136699 | SIL1 | c.1197G>C (p.Gln399His) c.1218G>C (p.Gln406His) n.532G>C c.1227G>C (p.Gln409His) | |
5 | g.138947306C>T | CA446793540 | SIL1 | c.1197G>A (p.Gln399=) c.1218G>A (p.Gln406=) n.532G>A c.1227G>A (p.Gln409=) | |
5 | g.138947307T>A | CA361136700 | SIL1 | c.1196A>T (p.Gln399Leu) c.1217A>T (p.Gln406Leu) n.531A>T c.1226A>T (p.Gln409Leu) | |
5 | g.138947307T>C | CA361136701 | SIL1 | c.1196A>G (p.Gln399Arg) c.1217A>G (p.Gln406Arg) n.531A>G c.1226A>G (p.Gln409Arg) | |
5 | g.138947307T>G | CA361136702 | SIL1 | c.1196A>C (p.Gln399Pro) c.1217A>C (p.Gln406Pro) n.531A>C c.1226A>C (p.Gln409Pro) | |
5 | g.138947308G>A | CA361136703 | SIL1 | c.1195C>T (p.Gln399Ter) c.1216C>T (p.Gln406Ter) n.530C>T c.1225C>T (p.Gln409Ter) | |
5 | g.138947308G>C | CA361136704 | SIL1 | c.1195C>G (p.Gln399Glu) c.1216C>G (p.Gln406Glu) n.530C>G c.1225C>G (p.Gln409Glu) | |
5 | g.138947308G= | CA1586077139 | SIL1 | c.1195C= (p.Gln399=) c.1216C= (p.Gln406=) n.530C= c.1225C= (p.Gln409=) | |
5 | g.138947308G>T | CA3432349 | SIL1 | c.1195C>A (p.Gln399Lys) c.1216C>A (p.Gln406Lys) n.530C>A c.1225C>A (p.Gln409Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.138947309C>A | CA446793542 | SIL1 | c.1194G>T (p.Leu398=) c.1215G>T (p.Leu405=) n.529G>T c.1224G>T (p.Leu408=) | |
5 | g.138947309C= | CA1586077144 | SIL1 | c.1194G= (p.Leu398=) c.1215G= (p.Leu405=) n.529G= c.1224G= (p.Leu408=) | |
5 | g.138947309C>G | CA3432351 | SIL1 | c.1194G>C (p.Leu398=) c.1215G>C (p.Leu405=) n.529G>C c.1224G>C (p.Leu408=) | dbSNP ExAC gnomAD v2 |
5 | g.138947309C>T | CA3432350 | SIL1 | c.1194G>A (p.Leu398=) c.1215G>A (p.Leu405=) n.529G>A c.1224G>A (p.Leu408=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.138947310A= | CA1586077149 | SIL1 | c.1193T= (p.Leu398=) c.1214T= (p.Leu405=) n.528T= c.1223T= (p.Leu408=) | |
5 | g.138947310A>C | CA361136705 | SIL1 | c.1193T>G (p.Leu398Arg) c.1214T>G (p.Leu405Arg) n.528T>G c.1223T>G (p.Leu408Arg) | gnomAD v4 |
5 | g.138947310A>G | CA16618119 | SIL1 | c.1193T>C (p.Leu398Pro) c.1214T>C (p.Leu405Pro) n.528T>C c.1223T>C (p.Leu408Pro) | ClinVar dbSNP |
5 | g.138947310A>T | CA361136706 | SIL1 | c.1193T>A (p.Leu398Gln) c.1214T>A (p.Leu405Gln) n.528T>A c.1223T>A (p.Leu408Gln) | |
5 | g.138947311G>A | CA446793545 | SIL1 | c.1192C>T (p.Leu398=) c.1213C>T (p.Leu405=) n.527C>T c.1222C>T (p.Leu408=) | |
5 | g.138947311G>C | CA361136707 | SIL1 | c.1192C>G (p.Leu398Val) c.1213C>G (p.Leu405Val) n.527C>G c.1222C>G (p.Leu408Val) | |
5 | g.138947311G= | CA1586077153 | SIL1 | c.1192C= (p.Leu398=) c.1213C= (p.Leu405=) n.527C= c.1222C= (p.Leu408=) | |
5 | g.138947311G>T | CA361136708 | SIL1 | c.1192C>A (p.Leu398Met) c.1213C>A (p.Leu405Met) n.527C>A c.1222C>A (p.Leu408Met) | dbSNP |
5 | g.138947312C>A | CA446793546 | SIL1 | c.1191G>T (p.Val397=) c.1212G>T (p.Val404=) n.526G>T c.1221G>T (p.Val407=) | |
5 | g.138947312C>G | CA446793547 | SIL1 | c.1191G>C (p.Val397=) c.1212G>C (p.Val404=) n.526G>C c.1221G>C (p.Val407=) | |
5 | g.138947312C>T | CA446793548 | SIL1 | c.1191G>A (p.Val397=) c.1212G>A (p.Val404=) n.526G>A c.1221G>A (p.Val407=) | gnomAD v4 |
5 | g.138947313A>C | CA361136711 | SIL1 | c.1190T>G (p.Val397Gly) c.1211T>G (p.Val404Gly) n.525T>G c.1220T>G (p.Val407Gly) | |
5 | g.138947313A>G | CA361136710 | SIL1 | c.1190T>C (p.Val397Ala) c.1211T>C (p.Val404Ala) n.525T>C c.1220T>C (p.Val407Ala) | |
5 | g.138947313A>T | CA361136709 | SIL1 | c.1190T>A (p.Val397Glu) c.1211T>A (p.Val404Glu) n.525T>A c.1220T>A (p.Val407Glu) | |
5 | g.138947314C>A | CA361136712 | SIL1 | c.1189G>T (p.Val397Leu) c.1210G>T (p.Val404Leu) n.524G>T c.1219G>T (p.Val407Leu) | gnomAD v4 |
5 | g.138947314C= | CA1586077158 | SIL1 | c.1189G= (p.Val397=) c.1210G= (p.Val404=) n.524G= c.1219G= (p.Val407=) | |
5 | g.138947314C>G | CA361136713 | SIL1 | c.1189G>C (p.Val397Leu) c.1210G>C (p.Val404Leu) n.524G>C c.1219G>C (p.Val407Leu) | |
5 | g.138947314C>T | CA361136714 | SIL1 | c.1189G>A (p.Val397Met) c.1210G>A (p.Val404Met) n.524G>A c.1219G>A (p.Val407Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.138947315C>A | CA361136715 | SIL1 | c.1188G>T (p.Lys396Asn) c.1209G>T (p.Lys403Asn) n.523G>T c.1218G>T (p.Lys406Asn) | |
5 | g.138947315C= | CA1586077163 | SIL1 | c.1188G= (p.Lys396=) c.1209G= (p.Lys403=) n.523G= c.1218G= (p.Lys406=) | |
5 | g.138947315C>G | CA361136716 | SIL1 | c.1188G>C (p.Lys396Asn) c.1209G>C (p.Lys403Asn) n.523G>C c.1218G>C (p.Lys406Asn) | |
5 | g.138947315C>T | CA446793554 | SIL1 | c.1188G>A (p.Lys396=) c.1209G>A (p.Lys403=) n.523G>A c.1218G>A (p.Lys406=) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.138947316T>A | CA361136717 | SIL1 | c.1187A>T (p.Lys396Met) c.1208A>T (p.Lys403Met) n.522A>T c.1217A>T (p.Lys406Met) | |
5 | g.138947316T>C | CA361136718 | SIL1 | c.1187A>G (p.Lys396Arg) c.1208A>G (p.Lys403Arg) n.522A>G c.1217A>G (p.Lys406Arg) | |
5 | g.138947316T>G | CA361136719 | SIL1 | c.1187A>C (p.Lys396Thr) c.1208A>C (p.Lys403Thr) n.522A>C c.1217A>C (p.Lys406Thr) |