| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.138947147A= | CA1586100197 | SIL1 | c.1356T= (p.Ser452=) c.1377T= (p.Ser459=) n.691T= c.1386T= (p.Ser462=) | |
| 5 | g.138947147A>C | CA446793195 | SIL1 | c.1356T>G (p.Ser452=) c.1377T>G (p.Ser459=) n.691T>G c.1386T>G (p.Ser462=) | |
| 5 | g.138947147A>G | CA3432322 | SIL1 | c.1356T>C (p.Ser452=) c.1377T>C (p.Ser459=) n.691T>C c.1386T>C (p.Ser462=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.138947147A>T | CA446793194 | SIL1 | c.1356T>A (p.Ser452=) c.1377T>A (p.Ser459=) n.691T>A c.1386T>A (p.Ser462=) | |
| 5 | g.138947147dup | CA3432321 | SIL1 | c.1356dup (p.Val453CysfsTer22) c.1377dup (p.Val460CysfsTer22) n.691dup c.1386dup (p.Val463CysfsTer22) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.138947148G>A | CA361136373 | SIL1 | c.1355C>T (p.Ser452Phe) c.1376C>T (p.Ser459Phe) n.690C>T c.1385C>T (p.Ser462Phe) | gnomAD v4 |
| 5 | g.138947148G>C | CA361136374 | SIL1 | c.1355C>G (p.Ser452Cys) c.1376C>G (p.Ser459Cys) n.690C>G c.1385C>G (p.Ser462Cys) | |
| 5 | g.138947148G>T | CA361136375 | SIL1 | c.1355C>A (p.Ser452Tyr) c.1376C>A (p.Ser459Tyr) n.690C>A c.1385C>A (p.Ser462Tyr) | |
| 5 | g.138947149A>C | CA361136378 | SIL1 | c.1354T>G (p.Ser452Ala) c.1375T>G (p.Ser459Ala) n.689T>G c.1384T>G (p.Ser462Ala) | |
| 5 | g.138947149A>G | CA361136377 | SIL1 | c.1354T>C (p.Ser452Pro) c.1375T>C (p.Ser459Pro) n.689T>C c.1384T>C (p.Ser462Pro) | |
| 5 | g.138947149A>T | CA361136376 | SIL1 | c.1354T>A (p.Ser452Thr) c.1375T>A (p.Ser459Thr) n.689T>A c.1384T>A (p.Ser462Thr) | |
| 5 | g.138947150G>A | CA446793196 | SIL1 | c.1353C>T (p.Gly451=) c.1374C>T (p.Gly458=) n.688C>T c.1383C>T (p.Gly461=) | |
| 5 | g.138947150G>C | CA446793197 | SIL1 | c.1353C>G (p.Gly451=) c.1374C>G (p.Gly458=) n.688C>G c.1383C>G (p.Gly461=) | |
| 5 | g.138947150G>T | CA446793198 | SIL1 | c.1353C>A (p.Gly451=) c.1374C>A (p.Gly458=) n.688C>A c.1383C>A (p.Gly461=) | |
| 5 | g.138947151C>A | CA361136379 | SIL1 | c.1352G>T (p.Gly451Val) c.1373G>T (p.Gly458Val) n.687G>T c.1382G>T (p.Gly461Val) | |
| 5 | g.138947151C>G | CA361136380 | SIL1 | c.1352G>C (p.Gly451Ala) c.1373G>C (p.Gly458Ala) n.687G>C c.1382G>C (p.Gly461Ala) | |
| 5 | g.138947151C>T | CA361136381 | SIL1 | c.1352G>A (p.Gly451Asp) c.1373G>A (p.Gly458Asp) n.687G>A c.1382G>A (p.Gly461Asp) | gnomAD v4 |
| 5 | g.138947152C>A | CA361136382 | SIL1 | c.1351G>T (p.Gly451Cys) c.1372G>T (p.Gly458Cys) n.686G>T c.1381G>T (p.Gly461Cys) | |
| 5 | g.138947152C= | CA1586100198 | SIL1 | c.1351G= (p.Gly451=) c.1372G= (p.Gly458=) n.686G= c.1381G= (p.Gly461=) | |
| 5 | g.138947152C>G | CA361136383 | SIL1 | c.1351G>C (p.Gly451Arg) c.1372G>C (p.Gly458Arg) n.686G>C c.1381G>C (p.Gly461Arg) | |
| 5 | g.138947152C>T | CA3432323 | SIL1 | c.1351G>A (p.Gly451Ser) c.1372G>A (p.Gly458Ser) n.686G>A c.1381G>A (p.Gly461Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.138947153C>A | CA446793199 | SIL1 | c.1350G>T (p.Leu450=) c.1371G>T (p.Leu457=) n.685G>T c.1380G>T (p.Leu460=) | |
| 5 | g.138947153C= | CA1586100199 | SIL1 | c.1350G= (p.Leu450=) c.1371G= (p.Leu457=) n.685G= c.1380G= (p.Leu460=) | |
| 5 | g.138947153C>G | CA446793201 | SIL1 | c.1350G>C (p.Leu450=) c.1371G>C (p.Leu457=) n.685G>C c.1380G>C (p.Leu460=) | |
| 5 | g.138947153C>T | CA446793200 | SIL1 | c.1350G>A (p.Leu450=) c.1371G>A (p.Leu457=) n.685G>A c.1380G>A (p.Leu460=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.138947154A>C | CA361136384 | SIL1 | c.1349T>G (p.Leu450Arg) c.1370T>G (p.Leu457Arg) n.684T>G c.1379T>G (p.Leu460Arg) | |
| 5 | g.138947154A>G | CA361136386 | SIL1 | c.1349T>C (p.Leu450Pro) c.1370T>C (p.Leu457Pro) n.684T>C c.1379T>C (p.Leu460Pro) | |
| 5 | g.138947154A>T | CA361136385 | SIL1 | c.1349T>A (p.Leu450Gln) c.1370T>A (p.Leu457Gln) n.684T>A c.1379T>A (p.Leu460Gln) | |
| 5 | g.138947155G>A | CA446793203 | SIL1 | c.1348C>T (p.Leu450=) c.1369C>T (p.Leu457=) n.683C>T c.1378C>T (p.Leu460=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.138947155G>C | CA361136387 | SIL1 | c.1348C>G (p.Leu450Val) c.1369C>G (p.Leu457Val) n.683C>G c.1378C>G (p.Leu460Val) | |
| 5 | g.138947155G= | CA1586100200 | SIL1 | c.1348C= (p.Leu450=) c.1369C= (p.Leu457=) n.683C= c.1378C= (p.Leu460=) | |
| 5 | g.138947155G>T | CA361136388 | SIL1 | c.1348C>A (p.Leu450Met) c.1369C>A (p.Leu457Met) n.683C>A c.1378C>A (p.Leu460Met) | |
| 5 | g.138947156C>A | CA446793204 | SIL1 | c.1347G>T (p.Leu449=) c.1368G>T (p.Leu456=) n.682G>T c.1377G>T (p.Leu459=) | gnomAD v4 |
| 5 | g.138947156C= | CA1586100201 | SIL1 | c.1347G= (p.Leu449=) c.1368G= (p.Leu456=) n.682G= c.1377G= (p.Leu459=) | |
| 5 | g.138947156C>G | CA446793205 | SIL1 | c.1347G>C (p.Leu449=) c.1368G>C (p.Leu456=) n.682G>C c.1377G>C (p.Leu459=) | COSMIC |
| 5 | g.138947156C>T | CA446793206 | SIL1 | c.1347G>A (p.Leu449=) c.1368G>A (p.Leu456=) n.682G>A c.1377G>A (p.Leu459=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.138947157A>C | CA361136389 | SIL1 | c.1346T>G (p.Leu449Arg) c.1367T>G (p.Leu456Arg) n.681T>G c.1376T>G (p.Leu459Arg) | |
| 5 | g.138947157A>G | CA361136390 | SIL1 | c.1346T>C (p.Leu449Pro) c.1367T>C (p.Leu456Pro) n.681T>C c.1376T>C (p.Leu459Pro) | |
| 5 | g.138947157A>T | CA361136391 | SIL1 | c.1346T>A (p.Leu449Gln) c.1367T>A (p.Leu456Gln) n.681T>A c.1376T>A (p.Leu459Gln) | |
| 5 | g.138947158G>A | CA446793209 | SIL1 | c.1345C>T (p.Leu449=) c.1366C>T (p.Leu456=) n.680C>T c.1375C>T (p.Leu459=) | gnomAD v4 |
| 5 | g.138947158G>C | CA361136392 | SIL1 | c.1345C>G (p.Leu449Val) c.1366C>G (p.Leu456Val) n.680C>G c.1375C>G (p.Leu459Val) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.138947158G= | CA1586100202 | SIL1 | c.1345C= (p.Leu449=) c.1366C= (p.Leu456=) n.680C= c.1375C= (p.Leu459=) | |
| 5 | g.138947158G>T | CA361136393 | SIL1 | c.1345C>A (p.Leu449Met) c.1366C>A (p.Leu456Met) n.680C>A c.1375C>A (p.Leu459Met) | |
| 5 | g.138947159C>A | CA361136394 | SIL1 | c.1344G>T (p.Glu448Asp) c.1365G>T (p.Glu455Asp) n.679G>T c.1374G>T (p.Glu458Asp) | |
| 5 | g.138947159C>G | CA361136395 | SIL1 | c.1344G>C (p.Glu448Asp) c.1365G>C (p.Glu455Asp) n.679G>C c.1374G>C (p.Glu458Asp) | |
| 5 | g.138947159C>T | CA446793211 | SIL1 | c.1344G>A (p.Glu448=) c.1365G>A (p.Glu455=) n.679G>A c.1374G>A (p.Glu458=) | |
| 5 | g.138947160T>A | CA361136396 | SIL1 | c.1343A>T (p.Glu448Val) c.1364A>T (p.Glu455Val) n.678A>T c.1373A>T (p.Glu458Val) | |
| 5 | g.138947160T>C | CA361136397 | SIL1 | c.1343A>G (p.Glu448Gly) c.1364A>G (p.Glu455Gly) n.678A>G c.1373A>G (p.Glu458Gly) | |
| 5 | g.138947160T>G | CA361136398 | SIL1 | c.1343A>C (p.Glu448Ala) c.1364A>C (p.Glu455Ala) n.678A>C c.1373A>C (p.Glu458Ala) | |
| 5 | g.138947161C>A | CA361136401 | SIL1 | c.1342G>T (p.Glu448Ter) c.1363G>T (p.Glu455Ter) n.677G>T c.1372G>T (p.Glu458Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.138947161C= | CA1586100203 | SIL1 | c.1342G= (p.Glu448=) c.1363G= (p.Glu455=) n.677G= c.1372G= (p.Glu458=) | |
| 5 | g.138947161C>G | CA361136400 | SIL1 | c.1342G>C (p.Glu448Gln) c.1363G>C (p.Glu455Gln) n.677G>C c.1372G>C (p.Glu458Gln) | |
| 5 | g.138947161C>T | CA361136399 | SIL1 | c.1342G>A (p.Glu448Lys) c.1363G>A (p.Glu455Lys) n.677G>A c.1372G>A (p.Glu458Lys) | ClinVar gnomAD v4 |
| 5 | g.138947162C>A | CA361136402 | SIL1 | c.1341G>T (p.Gln447His) c.1362G>T (p.Gln454His) n.676G>T c.1371G>T (p.Gln457His) | |
| 5 | g.138947162C>G | CA361136403 | SIL1 | c.1341G>C (p.Gln447His) c.1362G>C (p.Gln454His) n.676G>C c.1371G>C (p.Gln457His) | |
| 5 | g.138947162C>T | CA446793213 | SIL1 | c.1341G>A (p.Gln447=) c.1362G>A (p.Gln454=) n.676G>A c.1371G>A (p.Gln457=) | |
| 5 | g.138947163T>A | CA361136404 | SIL1 | c.1340A>T (p.Gln447Leu) c.1361A>T (p.Gln454Leu) n.675A>T c.1370A>T (p.Gln457Leu) | |
| 5 | g.138947163T>C | CA361136405 | SIL1 | c.1340A>G (p.Gln447Arg) c.1361A>G (p.Gln454Arg) n.675A>G c.1370A>G (p.Gln457Arg) | |
| 5 | g.138947163T>G | CA361136406 | SIL1 | c.1340A>C (p.Gln447Pro) c.1361A>C (p.Gln454Pro) n.675A>C c.1370A>C (p.Gln457Pro) | |
| 5 | g.138947164G>A | CA361136407 | SIL1 | c.1339C>T (p.Gln447Ter) c.1360C>T (p.Gln454Ter) n.674C>T c.1369C>T (p.Gln457Ter) | gnomAD v4 |
| 5 | g.138947164G>C | CA361136408 | SIL1 | c.1339C>G (p.Gln447Glu) c.1360C>G (p.Gln454Glu) n.674C>G c.1369C>G (p.Gln457Glu) | |
| 5 | g.138947164G>T | CA361136409 | SIL1 | c.1339C>A (p.Gln447Lys) c.1360C>A (p.Gln454Lys) n.674C>A c.1369C>A (p.Gln457Lys) | |
| 5 | g.138947165G>A | CA446793217 | SIL1 | c.1338C>T (p.Phe446=) c.1359C>T (p.Phe453=) n.673C>T c.1368C>T (p.Phe456=) | |
| 5 | g.138947165G>C | CA361136410 | SIL1 | c.1338C>G (p.Phe446Leu) c.1359C>G (p.Phe453Leu) n.673C>G c.1368C>G (p.Phe456Leu) | |
| 5 | g.138947165G= | CA1586100204 | SIL1 | c.1338C= (p.Phe446=) c.1359C= (p.Phe453=) n.673C= c.1368C= (p.Phe456=) | |
| 5 | g.138947165G>T | CA361136411 | SIL1 | c.1338C>A (p.Phe446Leu) c.1359C>A (p.Phe453Leu) n.673C>A c.1368C>A (p.Phe456Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.138947166A>C | CA361136412 | SIL1 | c.1337T>G (p.Phe446Cys) c.1358T>G (p.Phe453Cys) n.672T>G c.1367T>G (p.Phe456Cys) | |
| 5 | g.138947166A>G | CA361136413 | SIL1 | c.1337T>C (p.Phe446Ser) c.1358T>C (p.Phe453Ser) n.672T>C c.1367T>C (p.Phe456Ser) | |
| 5 | g.138947166A>T | CA361136414 | SIL1 | c.1337T>A (p.Phe446Tyr) c.1358T>A (p.Phe453Tyr) n.672T>A c.1367T>A (p.Phe456Tyr) | gnomAD v4 |
| 5 | g.138947167A>C | CA361136415 | SIL1 | c.1336T>G (p.Phe446Val) c.1357T>G (p.Phe453Val) n.671T>G c.1366T>G (p.Phe456Val) | |
| 5 | g.138947167A>G | CA361136416 | SIL1 | c.1336T>C (p.Phe446Leu) c.1357T>C (p.Phe453Leu) n.671T>C c.1366T>C (p.Phe456Leu) | |
| 5 | g.138947167A>T | CA361136417 | SIL1 | c.1336T>A (p.Phe446Ile) c.1357T>A (p.Phe453Ile) n.671T>A c.1366T>A (p.Phe456Ile) | |
| 5 | g.138947168G>A | CA446793218 | SIL1 | c.1335C>T (p.Tyr445=) c.1356C>T (p.Tyr452=) n.670C>T c.1365C>T (p.Tyr455=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.138947168G>C | CA361136418 | SIL1 | c.1335C>G (p.Tyr445Ter) c.1356C>G (p.Tyr452Ter) n.670C>G c.1365C>G (p.Tyr455Ter) | |
| 5 | g.138947168G= | CA1586100205 | SIL1 | c.1335C= (p.Tyr445=) c.1356C= (p.Tyr452=) n.670C= c.1365C= (p.Tyr455=) | |
| 5 | g.138947168G>T | CA361136419 | SIL1 | c.1335C>A (p.Tyr445Ter) c.1356C>A (p.Tyr452Ter) n.670C>A c.1365C>A (p.Tyr455Ter) | |
| 5 | g.138947169T>A | CA361136420 | SIL1 | c.1334A>T (p.Tyr445Phe) c.1355A>T (p.Tyr452Phe) n.669A>T c.1364A>T (p.Tyr455Phe) | |
| 5 | g.138947169T>C | CA361136421 | SIL1 | c.1334A>G (p.Tyr445Cys) c.1355A>G (p.Tyr452Cys) n.669A>G c.1364A>G (p.Tyr455Cys) | |
| 5 | g.138947169T>G | CA361136422 | SIL1 | c.1334A>C (p.Tyr445Ser) c.1355A>C (p.Tyr452Ser) n.669A>C c.1364A>C (p.Tyr455Ser) | |
| 5 | g.138947170A>C | CA361136423 | SIL1 | c.1333T>G (p.Tyr445Asp) c.1354T>G (p.Tyr452Asp) n.668T>G c.1363T>G (p.Tyr455Asp) | |
| 5 | g.138947170A>G | CA361136424 | SIL1 | c.1333T>C (p.Tyr445His) c.1354T>C (p.Tyr452His) n.668T>C c.1363T>C (p.Tyr455His) | |
| 5 | g.138947170A>T | CA361136425 | SIL1 | c.1333T>A (p.Tyr445Asn) c.1354T>A (p.Tyr452Asn) n.668T>A c.1363T>A (p.Tyr455Asn) | |
| 5 | g.138947170_138947171insC | CA446793222 | SIL1 | c.1332_1333insG (p.Tyr445ValfsTer30) c.1353_1354insG (p.Tyr452ValfsTer30) n.667_668insG c.1362_1363insG (p.Tyr455ValfsTer30) | |
| 5 | g.138947171G>A | CA446793223 | SIL1 | c.1332C>T (p.Gly444=) c.1353C>T (p.Gly451=) n.667C>T c.1362C>T (p.Gly454=) | gnomAD v4 |
| 5 | g.138947171G>C | CA446793224 | SIL1 | c.1332C>G (p.Gly444=) c.1353C>G (p.Gly451=) n.667C>G c.1362C>G (p.Gly454=) | |
| 5 | g.138947171G>T | CA446793225 | SIL1 | c.1332C>A (p.Gly444=) c.1353C>A (p.Gly451=) n.667C>A c.1362C>A (p.Gly454=) | |
| 5 | g.138947172C>A | CA361136426 | SIL1 | c.1331G>T (p.Gly444Val) c.1352G>T (p.Gly451Val) n.666G>T c.1361G>T (p.Gly454Val) | ClinVar dbSNP gnomAD v4 |
| 5 | g.138947172C= | CA1586100206 | SIL1 | c.1331G= (p.Gly444=) c.1352G= (p.Gly451=) n.666G= c.1361G= (p.Gly454=) | |
| 5 | g.138947172C>G | CA3432324 | SIL1 | c.1331G>C (p.Gly444Ala) c.1352G>C (p.Gly451Ala) n.666G>C c.1361G>C (p.Gly454Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.138947172C>T | CA361136427 | SIL1 | c.1331G>A (p.Gly444Asp) c.1352G>A (p.Gly451Asp) n.666G>A c.1361G>A (p.Gly454Asp) | gnomAD v4 |
| 5 | g.138947173C>A | CA361136428 | SIL1 | c.1330G>T (p.Gly444Cys) c.1351G>T (p.Gly451Cys) n.665G>T c.1360G>T (p.Gly454Cys) | ClinVar |
| 5 | g.138947173C>G | CA361136429 | SIL1 | c.1330G>C (p.Gly444Arg) c.1351G>C (p.Gly451Arg) n.665G>C c.1360G>C (p.Gly454Arg) | |
| 5 | g.138947173C>T | CA361136430 | SIL1 | c.1330G>A (p.Gly444Ser) c.1351G>A (p.Gly451Ser) n.665G>A c.1360G>A (p.Gly454Ser) | gnomAD v4 |
| 5 | g.138947174C>A | CA361136431 | SIL1 | c.1329G>T (p.Glu443Asp) c.1350G>T (p.Glu450Asp) n.664G>T c.1359G>T (p.Glu453Asp) | |
| 5 | g.138947174C= | CA1586100207 | SIL1 | c.1329G= (p.Glu443=) c.1350G= (p.Glu450=) n.664G= c.1359G= (p.Glu453=) | |
| 5 | g.138947174C>G | CA361136432 | SIL1 | c.1329G>C (p.Glu443Asp) c.1350G>C (p.Glu450Asp) n.664G>C c.1359G>C (p.Glu453Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.138947174C>T | CA446793229 | SIL1 | c.1329G>A (p.Glu443=) c.1350G>A (p.Glu450=) n.664G>A c.1359G>A (p.Glu453=) | dbSNP |
| 5 | g.138947175T>A | CA361136433 | SIL1 | c.1328A>T (p.Glu443Val) c.1349A>T (p.Glu450Val) n.663A>T c.1358A>T (p.Glu453Val) | |
| 5 | g.138947175T>C | CA361136434 | SIL1 | c.1328A>G (p.Glu443Gly) c.1349A>G (p.Glu450Gly) n.663A>G c.1358A>G (p.Glu453Gly) | dbSNP |
| 5 | g.138947175T>G | CA361136435 | SIL1 | c.1328A>C (p.Glu443Ala) c.1349A>C (p.Glu450Ala) n.663A>C c.1358A>C (p.Glu453Ala) | |
| 5 | g.138947175T= | CA1586100208 | SIL1 | c.1328A= (p.Glu443=) c.1349A= (p.Glu450=) n.663A= c.1358A= (p.Glu453=) | |
| 5 | g.138947176C>A | CA361136436 | SIL1 | c.1327G>T (p.Glu443Ter) c.1348G>T (p.Glu450Ter) n.662G>T c.1357G>T (p.Glu453Ter) | |
| 5 | g.138947176C= | CA1586100209 | SIL1 | c.1327G= (p.Glu443=) c.1348G= (p.Glu450=) n.662G= c.1357G= (p.Glu453=) | |
| 5 | g.138947176C>G | CA361136437 | SIL1 | c.1327G>C (p.Glu443Gln) c.1348G>C (p.Glu450Gln) n.662G>C c.1357G>C (p.Glu453Gln) | |
| 5 | g.138947176C>T | CA361136438 | SIL1 | c.1327G>A (p.Glu443Lys) c.1348G>A (p.Glu450Lys) n.662G>A c.1357G>A (p.Glu453Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.138947177G>A | CA3432325 | SIL1 | c.1326C>T (p.Asp442=) c.1347C>T (p.Asp449=) n.661C>T c.1356C>T (p.Asp452=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.138947177G>C | CA361136439 | SIL1 | c.1326C>G (p.Asp442Glu) c.1347C>G (p.Asp449Glu) n.661C>G c.1356C>G (p.Asp452Glu) | |
| 5 | g.138947177G= | CA1586100210 | SIL1 | c.1326C= (p.Asp442=) c.1347C= (p.Asp449=) n.661C= c.1356C= (p.Asp452=) | |
| 5 | g.138947177G>T | CA361136440 | SIL1 | c.1326C>A (p.Asp442Glu) c.1347C>A (p.Asp449Glu) n.661C>A c.1356C>A (p.Asp452Glu) | |
| 5 | g.138947178T>A | CA361136441 | SIL1 | c.1325A>T (p.Asp442Val) c.1346A>T (p.Asp449Val) n.660A>T c.1355A>T (p.Asp452Val) | |
| 5 | g.138947178T>C | CA361136442 | SIL1 | c.1325A>G (p.Asp442Gly) c.1346A>G (p.Asp449Gly) n.660A>G c.1355A>G (p.Asp452Gly) | |
| 5 | g.138947178T>G | CA361136443 | SIL1 | c.1325A>C (p.Asp442Ala) c.1346A>C (p.Asp449Ala) n.660A>C c.1355A>C (p.Asp452Ala) | |
| 5 | g.138947179C>A | CA361136445 | SIL1 | c.1324G>T (p.Asp442Tyr) c.1345G>T (p.Asp449Tyr) n.659G>T c.1354G>T (p.Asp452Tyr) | |
| 5 | g.138947179C>G | CA361136446 | SIL1 | c.1324G>C (p.Asp442His) c.1345G>C (p.Asp449His) n.659G>C c.1354G>C (p.Asp452His) | |
| 5 | g.138947179C>T | CA361136444 | SIL1 | c.1324G>A (p.Asp442Asn) c.1345G>A (p.Asp449Asn) n.659G>A c.1354G>A (p.Asp452Asn) | |
| 5 | g.138947180C>A | CA361136447 | SIL1 | c.1323G>T (p.Glu441Asp) c.1344G>T (p.Glu448Asp) n.658G>T c.1353G>T (p.Glu451Asp) | |
| 5 | g.138947180C>G | CA361136448 | SIL1 | c.1323G>C (p.Glu441Asp) c.1344G>C (p.Glu448Asp) n.658G>C c.1353G>C (p.Glu451Asp) | gnomAD v4 |
| 5 | g.138947180C>T | CA446793233 | SIL1 | c.1323G>A (p.Glu441=) c.1344G>A (p.Glu448=) n.658G>A c.1353G>A (p.Glu451=) | |
| 5 | g.138947181T>A | CA361136449 | SIL1 | c.1322A>T (p.Glu441Val) c.1343A>T (p.Glu448Val) n.657A>T c.1352A>T (p.Glu451Val) | |
| 5 | g.138947181T>C | CA361136450 | SIL1 | c.1322A>G (p.Glu441Gly) c.1343A>G (p.Glu448Gly) n.657A>G c.1352A>G (p.Glu451Gly) | |
| 5 | g.138947181T>G | CA361136451 | SIL1 | c.1322A>C (p.Glu441Ala) c.1343A>C (p.Glu448Ala) n.657A>C c.1352A>C (p.Glu451Ala) | |
| 5 | g.138947182C>A | CA361136453 | SIL1 | c.1321G>T (p.Glu441Ter) c.1342G>T (p.Glu448Ter) n.656G>T c.1351G>T (p.Glu451Ter) | ClinVar |
| 5 | g.138947182C= | CA1586100211 | SIL1 | c.1321G= (p.Glu441=) c.1342G= (p.Glu448=) n.656G= c.1351G= (p.Glu451=) | |
| 5 | g.138947182C>G | CA361136452 | SIL1 | c.1321G>C (p.Glu441Gln) c.1342G>C (p.Glu448Gln) n.656G>C c.1351G>C (p.Glu451Gln) | |
| 5 | g.138947182C>T | CA3432326 | SIL1 | c.1321G>A (p.Glu441Lys) c.1342G>A (p.Glu448Lys) n.656G>A c.1351G>A (p.Glu451Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.138947183A= | CA1586100212 | SIL1 | c.1320T= (p.Gly440=) c.1341T= (p.Gly447=) n.655T= c.1350T= (p.Gly450=) | |
| 5 | g.138947183A>C | CA446793239 | SIL1 | c.1320T>G (p.Gly440=) c.1341T>G (p.Gly447=) n.655T>G c.1350T>G (p.Gly450=) | |
| 5 | g.138947183A>G | CA446793238 | SIL1 | c.1320T>C (p.Gly440=) c.1341T>C (p.Gly447=) n.655T>C c.1350T>C (p.Gly450=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.138947183A>T | CA446793237 | SIL1 | c.1320T>A (p.Gly440=) c.1341T>A (p.Gly447=) n.655T>A c.1350T>A (p.Gly450=) | |
| 5 | g.138947184C>A | CA361136454 | SIL1 | c.1319G>T (p.Gly440Val) c.1340G>T (p.Gly447Val) n.654G>T c.1349G>T (p.Gly450Val) | |
| 5 | g.138947184C= | CA1586100213 | SIL1 | c.1319G= (p.Gly440=) c.1340G= (p.Gly447=) n.654G= c.1349G= (p.Gly450=) | |
| 5 | g.138947184C>G | CA3432327 | SIL1 | c.1319G>C (p.Gly440Ala) c.1340G>C (p.Gly447Ala) n.654G>C c.1349G>C (p.Gly450Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.138947184C>T | CA361136455 | SIL1 | c.1319G>A (p.Gly440Asp) c.1340G>A (p.Gly447Asp) n.654G>A c.1349G>A (p.Gly450Asp) | |
| 5 | g.138947185C>A | CA361136456 | SIL1 | c.1318G>T (p.Gly440Cys) c.1339G>T (p.Gly447Cys) n.653G>T c.1348G>T (p.Gly450Cys) | |
| 5 | g.138947185C>G | CA361136457 | SIL1 | c.1318G>C (p.Gly440Arg) c.1339G>C (p.Gly447Arg) n.653G>C c.1348G>C (p.Gly450Arg) | gnomAD v4 |
| 5 | g.138947185C>T | CA361136458 | SIL1 | c.1318G>A (p.Gly440Ser) c.1339G>A (p.Gly447Ser) n.653G>A c.1348G>A (p.Gly450Ser) | |
| 5 | g.138947186A>C | CA361136459 | SIL1 | c.1317T>G (p.Asp439Glu) c.1338T>G (p.Asp446Glu) n.652T>G c.1347T>G (p.Asp449Glu) | |
| 5 | g.138947186A>G | CA446793243 | SIL1 | c.1317T>C (p.Asp439=) c.1338T>C (p.Asp446=) n.652T>C c.1347T>C (p.Asp449=) | ClinVar gnomAD v4 |
| 5 | g.138947186A>T | CA361136460 | SIL1 | c.1317T>A (p.Asp439Glu) c.1338T>A (p.Asp446Glu) n.652T>A c.1347T>A (p.Asp449Glu) | |
| 5 | g.138947187T>A | CA361136461 | SIL1 | c.1316A>T (p.Asp439Val) c.1337A>T (p.Asp446Val) n.651A>T c.1346A>T (p.Asp449Val) | |
| 5 | g.138947187T>C | CA361136463 | SIL1 | c.1316A>G (p.Asp439Gly) c.1337A>G (p.Asp446Gly) n.651A>G c.1346A>G (p.Asp449Gly) | ClinVar dbSNP |
| 5 | g.138947187T>G | CA361136462 | SIL1 | c.1316A>C (p.Asp439Ala) c.1337A>C (p.Asp446Ala) n.651A>C c.1346A>C (p.Asp449Ala) | |
| 5 | g.138947187T= | CA1586100214 | SIL1 | c.1316A= (p.Asp439=) c.1337A= (p.Asp446=) n.651A= c.1346A= (p.Asp449=) | |
| 5 | g.138947188C>A | CA361136464 | SIL1 | c.1315G>T (p.Asp439Tyr) c.1336G>T (p.Asp446Tyr) n.650G>T c.1345G>T (p.Asp449Tyr) | |
| 5 | g.138947188C= | CA1586100215 | SIL1 | c.1315G= (p.Asp439=) c.1336G= (p.Asp446=) n.650G= c.1345G= (p.Asp449=) | |
| 5 | g.138947188C>G | CA361136465 | SIL1 | c.1315G>C (p.Asp439His) c.1336G>C (p.Asp446His) n.650G>C c.1345G>C (p.Asp449His) | |
| 5 | g.138947188C>T | CA3432328 | SIL1 | c.1315G>A (p.Asp439Asn) c.1336G>A (p.Asp446Asn) n.650G>A c.1345G>A (p.Asp449Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.138947189C>A | CA361136466 | SIL1 | c.1314G>T (p.Gln438His) c.1335G>T (p.Gln445His) n.649G>T c.1344G>T (p.Gln448His) | |
| 5 | g.138947189C>G | CA361136467 | SIL1 | c.1314G>C (p.Gln438His) c.1335G>C (p.Gln445His) n.649G>C c.1344G>C (p.Gln448His) | |
| 5 | g.138947189C>T | CA446793244 | SIL1 | c.1314G>A (p.Gln438=) c.1335G>A (p.Gln445=) n.649G>A c.1344G>A (p.Gln448=) | gnomAD v4 |
| 5 | g.138947190T>A | CA361136468 | SIL1 | c.1313A>T (p.Gln438Leu) c.1334A>T (p.Gln445Leu) n.648A>T c.1343A>T (p.Gln448Leu) | |
| 5 | g.138947190T>C | CA361136469 | SIL1 | c.1313A>G (p.Gln438Arg) c.1334A>G (p.Gln445Arg) n.648A>G c.1343A>G (p.Gln448Arg) | |
| 5 | g.138947190T>G | CA361136470 | SIL1 | c.1313A>C (p.Gln438Pro) c.1334A>C (p.Gln445Pro) n.648A>C c.1343A>C (p.Gln448Pro) | |
| 5 | g.138947191G>A | CA223722 | SIL1 | c.1312C>T (p.Gln438Ter) c.1333C>T (p.Gln445Ter) n.647C>T c.1342C>T (p.Gln448Ter) | ClinVar dbSNP gnomAD v4 |
| 5 | g.138947191G>C | CA361136471 | SIL1 | c.1312C>G (p.Gln438Glu) c.1333C>G (p.Gln445Glu) n.647C>G c.1342C>G (p.Gln448Glu) | |
| 5 | g.138947191G= | CA1586100216 | SIL1 | c.1312C= (p.Gln438=) c.1333C= (p.Gln445=) n.647C= c.1342C= (p.Gln448=) | |
| 5 | g.138947191G>T | CA361136472 | SIL1 | c.1312C>A (p.Gln438Lys) c.1333C>A (p.Gln445Lys) n.647C>A c.1342C>A (p.Gln448Lys) | |
| 5 | g.138947192C>A | CA446793245 | SIL1 | c.1311G>T (p.Leu437=) c.1332G>T (p.Leu444=) n.646G>T c.1341G>T (p.Leu447=) | gnomAD v4 |
| 5 | g.138947192C= | CA1586100217 | SIL1 | c.1311G= (p.Leu437=) c.1332G= (p.Leu444=) n.646G= c.1341G= (p.Leu447=) | |
| 5 | g.138947192C>G | CA446793246 | SIL1 | c.1311G>C (p.Leu437=) c.1332G>C (p.Leu444=) n.646G>C c.1341G>C (p.Leu447=) | |
| 5 | g.138947192C>T | CA446793247 | SIL1 | c.1311G>A (p.Leu437=) c.1332G>A (p.Leu444=) n.646G>A c.1341G>A (p.Leu447=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.138947193A= | CA1586100218 | SIL1 | c.1310T= (p.Leu437=) c.1331T= (p.Leu444=) n.645T= c.1340T= (p.Leu447=) | |
| 5 | g.138947193A>C | CA361136473 | SIL1 | c.1310T>G (p.Leu437Arg) c.1331T>G (p.Leu444Arg) n.645T>G c.1340T>G (p.Leu447Arg) | |
| 5 | g.138947193A>G | CA3432329 | SIL1 | c.1310T>C (p.Leu437Pro) c.1331T>C (p.Leu444Pro) n.645T>C c.1340T>C (p.Leu447Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.138947193A>T | CA361136474 | SIL1 | c.1310T>A (p.Leu437Gln) c.1331T>A (p.Leu444Gln) n.645T>A c.1340T>A (p.Leu447Gln) | |
| 5 | g.138947194G>A | CA446793248 | SIL1 | c.1309C>T (p.Leu437=) c.1330C>T (p.Leu444=) n.644C>T c.1339C>T (p.Leu447=) | |
| 5 | g.138947194G>C | CA361136475 | SIL1 | c.1309C>G (p.Leu437Val) c.1330C>G (p.Leu444Val) n.644C>G c.1339C>G (p.Leu447Val) | |
| 5 | g.138947194G>T | CA361136476 | SIL1 | c.1309C>A (p.Leu437Met) c.1330C>A (p.Leu444Met) n.644C>A c.1339C>A (p.Leu447Met) | |
| 5 | g.138947195C>A | CA361136478 | SIL1 | c.1308G>T (p.Glu436Asp) c.1329G>T (p.Glu443Asp) n.643G>T c.1338G>T (p.Glu446Asp) | |
| 5 | g.138947195C>G | CA361136477 | SIL1 | c.1308G>C (p.Glu436Asp) c.1329G>C (p.Glu443Asp) n.643G>C c.1338G>C (p.Glu446Asp) | |
| 5 | g.138947195C>T | CA446793249 | SIL1 | c.1308G>A (p.Glu436=) c.1329G>A (p.Glu443=) n.643G>A c.1338G>A (p.Glu446=) | |
| 5 | g.138947196T>A | CA361136479 | SIL1 | c.1307A>T (p.Glu436Val) c.1328A>T (p.Glu443Val) n.642A>T c.1337A>T (p.Glu446Val) | |
| 5 | g.138947196T>C | CA361136480 | SIL1 | c.1307A>G (p.Glu436Gly) c.1328A>G (p.Glu443Gly) n.642A>G c.1337A>G (p.Glu446Gly) | |
| 5 | g.138947196T>G | CA361136481 | SIL1 | c.1307A>C (p.Glu436Ala) c.1328A>C (p.Glu443Ala) n.642A>C c.1337A>C (p.Glu446Ala) | |
| 5 | g.138947197C>A | CA361136482 | SIL1 | c.1306G>T (p.Glu436Ter) c.1327G>T (p.Glu443Ter) n.641G>T c.1336G>T (p.Glu446Ter) | |
| 5 | g.138947197C>G | CA361136483 | SIL1 | c.1306G>C (p.Glu436Gln) c.1327G>C (p.Glu443Gln) n.641G>C c.1336G>C (p.Glu446Gln) | |
| 5 | g.138947197C>T | CA361136484 | SIL1 | c.1306G>A (p.Glu436Lys) c.1327G>A (p.Glu443Lys) n.641G>A c.1336G>A (p.Glu446Lys) | |
| 5 | g.138947198C>A | CA446793250 | SIL1 | c.1305G>T (p.Leu435=) c.1326G>T (p.Leu442=) n.640G>T c.1335G>T (p.Leu445=) | dbSNP |
| 5 | g.138947198C= | CA1586100219 | SIL1 | c.1305G= (p.Leu435=) c.1326G= (p.Leu442=) n.640G= c.1335G= (p.Leu445=) | |
| 5 | g.138947198C>G | CA446793251 | SIL1 | c.1305G>C (p.Leu435=) c.1326G>C (p.Leu442=) n.640G>C c.1335G>C (p.Leu445=) | |
| 5 | g.138947198C>T | CA446793252 | SIL1 | c.1305G>A (p.Leu435=) c.1326G>A (p.Leu442=) n.640G>A c.1335G>A (p.Leu445=) | gnomAD v4 |
| 5 | g.138947199A>C | CA361136485 | SIL1 | c.1304T>G (p.Leu435Arg) c.1325T>G (p.Leu442Arg) n.639T>G c.1334T>G (p.Leu445Arg) | |
| 5 | g.138947199A>G | CA361136486 | SIL1 | c.1304T>C (p.Leu435Pro) c.1325T>C (p.Leu442Pro) n.639T>C c.1334T>C (p.Leu445Pro) | |
| 5 | g.138947199A>T | CA361136487 | SIL1 | c.1304T>A (p.Leu435Gln) c.1325T>A (p.Leu442Gln) n.639T>A c.1334T>A (p.Leu445Gln) | |
| 5 | g.138947200G>A | CA446793253 | SIL1 | c.1303C>T (p.Leu435=) c.1324C>T (p.Leu442=) n.638C>T c.1333C>T (p.Leu445=) | |
| 5 | g.138947200G>C | CA361136488 | SIL1 | c.1303C>G (p.Leu435Val) c.1324C>G (p.Leu442Val) n.638C>G c.1333C>G (p.Leu445Val) | gnomAD v4 |
| 5 | g.138947200G>T | CA361136489 | SIL1 | c.1303C>A (p.Leu435Met) c.1324C>A (p.Leu442Met) n.638C>A c.1333C>A (p.Leu445Met) | |
| 5 | g.138947201G>A | CA446793254 | SIL1 | c.1302C>T (p.Ser434=) c.1323C>T (p.Ser441=) n.637C>T c.1332C>T (p.Ser444=) | |
| 5 | g.138947201G>C | CA361136490 | SIL1 | c.1302C>G (p.Ser434Arg) c.1323C>G (p.Ser441Arg) n.637C>G c.1332C>G (p.Ser444Arg) | |
| 5 | g.138947201G>T | CA361136491 | SIL1 | c.1302C>A (p.Ser434Arg) c.1323C>A (p.Ser441Arg) n.637C>A c.1332C>A (p.Ser444Arg) | |
| 5 | g.138947202C>A | CA361136492 | SIL1 | c.1301G>T (p.Ser434Ile) c.1322G>T (p.Ser441Ile) n.636G>T c.1331G>T (p.Ser444Ile) | |
| 5 | g.138947202C= | CA1586100220 | SIL1 | c.1301G= (p.Ser434=) c.1322G= (p.Ser441=) n.636G= c.1331G= (p.Ser444=) | |
| 5 | g.138947202C>G | CA361136494 | SIL1 | c.1301G>C (p.Ser434Thr) c.1322G>C (p.Ser441Thr) n.636G>C c.1331G>C (p.Ser444Thr) | |
| 5 | g.138947202C>T | CA361136493 | SIL1 | c.1301G>A (p.Ser434Asn) c.1322G>A (p.Ser441Asn) n.636G>A c.1331G>A (p.Ser444Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.138947203T>A | CA361136495 | SIL1 | c.1300A>T (p.Ser434Cys) c.1321A>T (p.Ser441Cys) n.635A>T c.1330A>T (p.Ser444Cys) | |
| 5 | g.138947203T>C | CA361136496 | SIL1 | c.1300A>G (p.Ser434Gly) c.1321A>G (p.Ser441Gly) n.635A>G c.1330A>G (p.Ser444Gly) | |
| 5 | g.138947203T>G | CA361136497 | SIL1 | c.1300A>C (p.Ser434Arg) c.1321A>C (p.Ser441Arg) n.635A>C c.1330A>C (p.Ser444Arg) | |
| 5 | g.138947204G>A | CA446793255 | SIL1 | c.1299C>T (p.Ala433=) c.1320C>T (p.Ala440=) n.634C>T c.1329C>T (p.Ala443=) | |
| 5 | g.138947204G>C | CA446793256 | SIL1 | c.1299C>G (p.Ala433=) c.1320C>G (p.Ala440=) n.634C>G c.1329C>G (p.Ala443=) | |
| 5 | g.138947204G>T | CA446793257 | SIL1 | c.1299C>A (p.Ala433=) c.1320C>A (p.Ala440=) n.634C>A c.1329C>A (p.Ala443=) | |
| 5 | g.138947205G>A | CA361136498 | SIL1 | c.1298C>T (p.Ala433Val) c.1319C>T (p.Ala440Val) n.633C>T c.1328C>T (p.Ala443Val) | |
| 5 | g.138947205G>C | CA361136499 | SIL1 | c.1298C>G (p.Ala433Gly) c.1319C>G (p.Ala440Gly) n.633C>G c.1328C>G (p.Ala443Gly) | |
| 5 | g.138947205G>T | CA361136500 | SIL1 | c.1298C>A (p.Ala433Asp) c.1319C>A (p.Ala440Asp) n.633C>A c.1328C>A (p.Ala443Asp) | COSMIC |
| 5 | g.138947206C>A | CA361136501 | SIL1 | c.1297G>T (p.Ala433Ser) c.1318G>T (p.Ala440Ser) n.632G>T c.1327G>T (p.Ala443Ser) | |
| 5 | g.138947206C>G | CA361136502 | SIL1 | c.1297G>C (p.Ala433Pro) c.1318G>C (p.Ala440Pro) n.632G>C c.1327G>C (p.Ala443Pro) | gnomAD v4 |
| 5 | g.138947206C>T | CA361136503 | SIL1 | c.1297G>A (p.Ala433Thr) c.1318G>A (p.Ala440Thr) n.632G>A c.1327G>A (p.Ala443Thr) | |
| 5 | g.138947207C>A | CA446793258 | SIL1 | c.1296G>T (p.Leu432=) c.1317G>T (p.Leu439=) n.631G>T c.1326G>T (p.Leu442=) | |
| 5 | g.138947207C>G | CA446793259 | SIL1 | c.1296G>C (p.Leu432=) c.1317G>C (p.Leu439=) n.631G>C c.1326G>C (p.Leu442=) | |
| 5 | g.138947207C>T | CA446793260 | SIL1 | c.1296G>A (p.Leu432=) c.1317G>A (p.Leu439=) n.631G>A c.1326G>A (p.Leu442=) | |
| 5 | g.138947208A>C | CA361136504 | SIL1 | c.1295T>G (p.Leu432Arg) c.1316T>G (p.Leu439Arg) n.630T>G c.1325T>G (p.Leu442Arg) | |
| 5 | g.138947208A>G | CA361136505 | SIL1 | c.1295T>C (p.Leu432Pro) c.1316T>C (p.Leu439Pro) n.630T>C c.1325T>C (p.Leu442Pro) | |
| 5 | g.138947208A>T | CA361136506 | SIL1 | c.1295T>A (p.Leu432Gln) c.1316T>A (p.Leu439Gln) n.630T>A c.1325T>A (p.Leu442Gln) | |
| 5 | g.138947209G>A | CA446793261 | SIL1 | c.1294C>T (p.Leu432=) c.1315C>T (p.Leu439=) n.629C>T c.1324C>T (p.Leu442=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.138947209G>C | CA361136508 | SIL1 | c.1294C>G (p.Leu432Val) c.1315C>G (p.Leu439Val) n.629C>G c.1324C>G (p.Leu442Val) | |
| 5 | g.138947209G= | CA1586100221 | SIL1 | c.1294C= (p.Leu432=) c.1315C= (p.Leu439=) n.629C= c.1324C= (p.Leu442=) | |
| 5 | g.138947209G>T | CA361136507 | SIL1 | c.1294C>A (p.Leu432Met) c.1315C>A (p.Leu439Met) n.629C>A c.1324C>A (p.Leu442Met) | |
| 5 | g.138947210C>A | CA446793264 | SIL1 | c.1293G>T (p.Val431=) c.1314G>T (p.Val438=) n.628G>T c.1323G>T (p.Val441=) | |
| 5 | g.138947210C>G | CA446793263 | SIL1 | c.1293G>C (p.Val431=) c.1314G>C (p.Val438=) n.628G>C c.1323G>C (p.Val441=) | |
| 5 | g.138947210C>T | CA446793262 | SIL1 | c.1293G>A (p.Val431=) c.1314G>A (p.Val438=) n.628G>A c.1323G>A (p.Val441=) | gnomAD v4 |
| 5 | g.138947211A>C | CA361136509 | SIL1 | c.1292T>G (p.Val431Gly) c.1313T>G (p.Val438Gly) n.627T>G c.1322T>G (p.Val441Gly) | |
| 5 | g.138947211A>G | CA361136510 | SIL1 | c.1292T>C (p.Val431Ala) c.1313T>C (p.Val438Ala) n.627T>C c.1322T>C (p.Val441Ala) | dbSNP gnomAD v4 |
| 5 | g.138947211A>T | CA361136511 | SIL1 | c.1292T>A (p.Val431Glu) c.1313T>A (p.Val438Glu) n.627T>A c.1322T>A (p.Val441Glu) | |
| 5 | g.138947212C>A | CA361136512 | SIL1 | c.1291G>T (p.Val431Leu) c.1312G>T (p.Val438Leu) n.626G>T c.1321G>T (p.Val441Leu) | |
| 5 | g.138947212C= | CA1586100222 | SIL1 | c.1291G= (p.Val431=) c.1312G= (p.Val438=) n.626G= c.1321G= (p.Val441=) | |
| 5 | g.138947212C>G | CA361136513 | SIL1 | c.1291G>C (p.Val431Leu) c.1312G>C (p.Val438Leu) n.626G>C c.1321G>C (p.Val441Leu) | |
| 5 | g.138947212C>T | CA361136514 | SIL1 | c.1291G>A (p.Val431Met) c.1312G>A (p.Val438Met) n.626G>A c.1321G>A (p.Val441Met) | dbSNP gnomAD v4 |
| 5 | g.138947213C>A | CA361136515 | SIL1 | c.1290G>T (p.Gln430His) c.1311G>T (p.Gln437His) n.625G>T c.1320G>T (p.Gln440His) | |
| 5 | g.138947213C>G | CA361136516 | SIL1 | c.1290G>C (p.Gln430His) c.1311G>C (p.Gln437His) n.625G>C c.1320G>C (p.Gln440His) | |
| 5 | g.138947213C>T | CA446793265 | SIL1 | c.1290G>A (p.Gln430=) c.1311G>A (p.Gln437=) n.625G>A c.1320G>A (p.Gln440=) | |
| 5 | g.138947214T>A | CA361136517 | SIL1 | c.1289A>T (p.Gln430Leu) c.1310A>T (p.Gln437Leu) n.624A>T c.1319A>T (p.Gln440Leu) | |
| 5 | g.138947214T>C | CA361136518 | SIL1 | c.1289A>G (p.Gln430Arg) c.1310A>G (p.Gln437Arg) n.624A>G c.1319A>G (p.Gln440Arg) | |
| 5 | g.138947214T>G | CA361136519 | SIL1 | c.1289A>C (p.Gln430Pro) c.1310A>C (p.Gln437Pro) n.624A>C c.1319A>C (p.Gln440Pro) | |
| 5 | g.138947215G>A | CA361136522 | SIL1 | c.1288C>T (p.Gln430Ter) c.1309C>T (p.Gln437Ter) n.623C>T c.1318C>T (p.Gln440Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.138947215G>C | CA361136521 | SIL1 | c.1288C>G (p.Gln430Glu) c.1309C>G (p.Gln437Glu) n.623C>G c.1318C>G (p.Gln440Glu) | |
| 5 | g.138947215G= | CA1586100223 | SIL1 | c.1288C= (p.Gln430=) c.1309C= (p.Gln437=) n.623C= c.1318C= (p.Gln440=) | |
| 5 | g.138947215G>T | CA361136520 | SIL1 | c.1288C>A (p.Gln430Lys) c.1309C>A (p.Gln437Lys) n.623C>A c.1318C>A (p.Gln440Lys) | |
| 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 |