UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.138947092C>T | CA2578421325 | SIL1 | c.*25G>A (n.*25G>A) n.746G>A | |
| 5 | g.138947093C>A | CA2675501662 | SIL1 | c.*24G>T (n.*24G>T) n.745G>T | gnomAD v4 |
| 5 | g.138947093C= | CA1586100170 | SIL1 | c.*24G= (n.*24G=) n.745G= | |
| 5 | g.138947093C>T | CA563498230 | SIL1 | c.*24G>A (n.*24G>A) n.745G>A | dbSNP gnomAD v2 |
| 5 | g.138947094C>T | CA2578421326 | SIL1 | c.*23G>A (n.*23G>A) n.744G>A | |
| 5 | g.138947095dup | CA2675501663 | SIL1 | c.*22dup (n.*22dup) n.743dup | gnomAD v4 |
| 5 | g.138947096G>C | CA1082073210 | SIL1 | c.*21C>G (n.*21C>G) n.742C>G | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.138947096G= | CA1586100171 | SIL1 | c.*21C= (n.*21C=) n.742C= | |
| 5 | g.138947097T>C | CA563498231 | SIL1 | c.*20A>G (n.*20A>G) n.741A>G | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.138947097T= | CA1586100172 | SIL1 | c.*20A= (n.*20A=) n.741A= | |
| 5 | g.138947098C>A | CA2675501664 | SIL1 | c.*19G>T (n.*19G>T) n.740G>T | gnomAD v4 |
| 5 | g.138947098C= | CA1586100173 | SIL1 | c.*19G= (n.*19G=) n.740G= | |
| 5 | g.138947098C>G | CA2675501665 | SIL1 | c.*19G>C (n.*19G>C) n.740G>C | gnomAD v4 |
| 5 | g.138947098C>T | CA563498232 | SIL1 | c.*19G>A (n.*19G>A) n.740G>A | dbSNP gnomAD v2 |
| 5 | g.138947099C>T | CA2578421327 | SIL1 | c.*18G>A (n.*18G>A) n.739G>A | gnomAD v4 |
| 5 | g.138947101G>T | CA2675501666 | SIL1 | c.*16C>A (n.*16C>A) n.737C>A | gnomAD v4 |
| 5 | g.138947102T>C | CA1586100174 | SIL1 | c.*15A>G (n.*15A>G) n.736A>G | dbSNP gnomAD v4 |
| 5 | g.138947102T= | CA1586100175 | SIL1 | c.*15A= (n.*15A=) n.736A= | |
| 5 | g.138947103C= | CA1586100176 | SIL1 | c.*14G= (n.*14G=) n.735G= | |
| 5 | g.138947103C>G | CA3432315 | SIL1 | c.*14G>C (n.*14G>C) n.735G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.138947104C= | CA1586100177 | SIL1 | c.*13G= (n.*13G=) n.734G= | |
| 5 | g.138947104C>G | CA3432316 | SIL1 | c.*13G>C (n.*13G>C) n.734G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.138947105T>C | CA563498233 | SIL1 | c.*12A>G (n.*12A>G) n.733A>G | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.138947105T= | CA1586100178 | SIL1 | c.*12A= (n.*12A=) n.733A= | |
| 5 | g.138947106G>T | CA2675501668 | SIL1 | c.*11C>A (n.*11C>A) n.732C>A | gnomAD v4 |
| 5 | g.138947107G>A | CA563498234 | SIL1 | c.*10C>T (n.*10C>T) n.731C>T | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.138947107G>C | CA128236193 | SIL1 | c.*10C>G (n.*10C>G) n.731C>G | dbSNP |
| 5 | g.138947107G= | CA1586100179 | SIL1 | c.*10C= (n.*10C=) n.731C= | |
| 5 | g.138947107G>T | CA2675501669 | SIL1 | c.*10C>A (n.*10C>A) n.731C>A | gnomAD v4 |
| 5 | g.138947108T>C | CA3432317 | SIL1 | c.*9A>G (n.*9A>G) n.730A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.138947108T= | CA1586100180 | SIL1 | c.*9A= (n.*9A=) n.730A= | |
| 5 | g.138947109G>T | CA2675501670 | SIL1 | c.*8C>A (n.*8C>A) n.729C>A | gnomAD v4 |
| 5 | g.138947111G>A | CA2675501671 | SIL1 | c.*6C>T (n.*6C>T) n.727C>T | gnomAD v4 |
| 5 | g.138947112G>A | CA563498235 | SIL1 | c.*5C>T (n.*5C>T) n.726C>T | dbSNP gnomAD v2 |
| 5 | g.138947112G= | CA1586100181 | SIL1 | c.*5C= (n.*5C=) n.726C= | |
| 5 | g.138947112G>T | CA563498236 | SIL1 | c.*5C>A (n.*5C>A) n.726C>A | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.138947113G>A | CA3432318 | SIL1 | c.*4C>T (n.*4C>T) n.725C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.138947113G= | CA1586100182 | SIL1 | c.*4C= (n.*4C=) n.725C= | |
| 5 | g.138947114G>A | CA2768602108 | SIL1 | c.*3C>T (n.*3C>T) n.724C>T | |
| 5 | g.138947114G>T | CA2675501672 | SIL1 | c.*3C>A (n.*3C>A) n.724C>A | gnomAD v4 |
| 5 | g.138947114_138947115dup | CA1082073213 | SIL1 | c.*2_*3dup (n.*2_*3dup) n.723_724dup | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.138947120_138947124del | CA2578421328 | SIL1 | c.1383_*1del (n.[c.1383_*1del;Ter462ProextTer11]) c.1404_*1del (n.[c.1404_*1del;Ter469ProextTer11]) n.718_722del c.1413_*1del (n.[c.1413_*1del;Ter472ProextTer11]) | |
| 5 | g.138947117T>A | CA361136305 | SIL1 | c.1386A>T (p.Ter462Cys) c.1407A>T (p.Ter469Cys) n.721A>T c.1416A>T (p.Ter472Cys) | |
| 5 | g.138947117T>C | CA361136306 | SIL1 | c.1386A>G (p.Ter462Trp) c.1407A>G (p.Ter469Trp) n.721A>G c.1416A>G (p.Ter472Trp) | |
| 5 | g.138947117T>G | CA361136307 | SIL1 | c.1386A>C (p.Ter462Cys) c.1407A>C (p.Ter469Cys) n.721A>C c.1416A>C (p.Ter472Cys) | |
| 5 | g.138947118C>A | CA361136308 | SIL1 | c.1385G>T (p.Ter462Leu) c.1406G>T (p.Ter469Leu) n.720G>T c.1415G>T (p.Ter472Leu) | |
| 5 | g.138947118C= | CA1586100183 | SIL1 | c.1385G= (p.Ter462=) c.1406G= (p.Ter469=) n.720G= c.1415G= (p.Ter472=) | |
| 5 | g.138947118C>G | CA361136309 | SIL1 | c.1385G>C (p.Ter462Ser) c.1406G>C (p.Ter469Ser) n.720G>C c.1415G>C (p.Ter472Ser) | |
| 5 | g.138947118C>T | CA446793161 | SIL1 | c.1385G>A (p.Ter462=) c.1406G>A (p.Ter469=) n.720G>A c.1415G>A (p.Ter472=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.138947119A>C | CA361136311 | SIL1 | c.1384T>G (p.Ter462Gly) c.1405T>G (p.Ter469Gly) n.719T>G c.1414T>G (p.Ter472Gly) | |
| 5 | g.138947119A>G | CA361136312 | SIL1 | c.1384T>C (p.Ter462Arg) c.1405T>C (p.Ter469Arg) n.719T>C c.1414T>C (p.Ter472Arg) | gnomAD v4 |
| 5 | g.138947119A>T | CA361136310 | SIL1 | c.1384T>A (p.Ter462Arg) c.1405T>A (p.Ter469Arg) n.719T>A c.1414T>A (p.Ter472Arg) | |
| 5 | g.138947120T>A | CA361136313 | SIL1 | c.1383A>T (p.Arg461Ser) c.1404A>T (p.Arg468Ser) n.718A>T c.1413A>T (p.Arg471Ser) | |
| 5 | g.138947120T>C | CA446793162 | SIL1 | c.1383A>G (p.Arg461=) c.1404A>G (p.Arg468=) n.718A>G c.1413A>G (p.Arg471=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.138947120T>G | CA361136314 | SIL1 | c.1383A>C (p.Arg461Ser) c.1404A>C (p.Arg468Ser) n.718A>C c.1413A>C (p.Arg471Ser) | |
| 5 | g.138947120T= | CA1586100184 | SIL1 | c.1383A= (p.Arg461=) c.1404A= (p.Arg468=) n.718A= c.1413A= (p.Arg471=) | |
| 5 | g.138947121C>A | CA361136315 | SIL1 | c.1382G>T (p.Arg461Ile) c.1403G>T (p.Arg468Ile) n.717G>T c.1412G>T (p.Arg471Ile) | |
| 5 | g.138947121C= | CA1586100185 | SIL1 | c.1382G= (p.Arg461=) c.1403G= (p.Arg468=) n.717G= c.1412G= (p.Arg471=) | |
| 5 | g.138947121C>G | CA361136316 | SIL1 | c.1382G>C (p.Arg461Thr) c.1403G>C (p.Arg468Thr) n.717G>C c.1412G>C (p.Arg471Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.138947121C>T | CA361136317 | SIL1 | c.1382G>A (p.Arg461Lys) c.1403G>A (p.Arg468Lys) n.717G>A c.1412G>A (p.Arg471Lys) | |
| 5 | g.138947122T>A | CA361136318 | SIL1 | c.1381A>T (p.Arg461Ter) c.1402A>T (p.Arg468Ter) n.716A>T c.1411A>T (p.Arg471Ter) | |
| 5 | g.138947122T>C | CA361136319 | SIL1 | c.1381A>G (p.Arg461Gly) c.1402A>G (p.Arg468Gly) n.716A>G c.1411A>G (p.Arg471Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.138947122T>G | CA446793164 | SIL1 | c.1381A>C (p.Arg461=) c.1402A>C (p.Arg468=) n.716A>C c.1411A>C (p.Arg471=) | dbSNP |
| 5 | g.138947122T= | CA1586100186 | SIL1 | c.1381A= (p.Arg461=) c.1402A= (p.Arg468=) n.716A= c.1411A= (p.Arg471=) | |
| 5 | g.138947123C>A | CA128236203 | SIL1 | c.1380G>T (p.Leu460=) c.1401G>T (p.Leu467=) n.715G>T c.1410G>T (p.Leu470=) | dbSNP |
| 5 | g.138947123C= | CA1586100187 | SIL1 | c.1380G= (p.Leu460=) c.1401G= (p.Leu467=) n.715G= c.1410G= (p.Leu470=) | |
| 5 | g.138947123C>G | CA446793165 | SIL1 | c.1380G>C (p.Leu460=) c.1401G>C (p.Leu467=) n.715G>C c.1410G>C (p.Leu470=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.138947123C>T | CA446793166 | SIL1 | c.1380G>A (p.Leu460=) c.1401G>A (p.Leu467=) n.715G>A c.1410G>A (p.Leu470=) | |
| 5 | g.138947124A>C | CA361136320 | SIL1 | c.1379T>G (p.Leu460Arg) c.1400T>G (p.Leu467Arg) n.714T>G c.1409T>G (p.Leu470Arg) | |
| 5 | g.138947124A>G | CA361136321 | SIL1 | c.1379T>C (p.Leu460Pro) c.1400T>C (p.Leu467Pro) n.714T>C c.1409T>C (p.Leu470Pro) | |
| 5 | g.138947124A>T | CA361136322 | SIL1 | c.1379T>A (p.Leu460Gln) c.1400T>A (p.Leu467Gln) n.714T>A c.1409T>A (p.Leu470Gln) | |
| 5 | g.138947125G>A | CA446793169 | SIL1 | c.1378C>T (p.Leu460=) c.1399C>T (p.Leu467=) n.713C>T c.1408C>T (p.Leu470=) | |
| 5 | g.138947125G>C | CA361136323 | SIL1 | c.1378C>G (p.Leu460Val) c.1399C>G (p.Leu467Val) n.713C>G c.1408C>G (p.Leu470Val) | |
| 5 | g.138947125G>T | CA361136324 | SIL1 | c.1378C>A (p.Leu460Met) c.1399C>A (p.Leu467Met) n.713C>A c.1408C>A (p.Leu470Met) | |
| 5 | g.138947126C>A | CA361136326 | SIL1 | c.1377G>T (p.Glu459Asp) c.1398G>T (p.Glu466Asp) n.712G>T c.1407G>T (p.Glu469Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.138947126C= | CA1586100188 | SIL1 | c.1377G= (p.Glu459=) c.1398G= (p.Glu466=) n.712G= c.1407G= (p.Glu469=) | |
| 5 | g.138947126C>G | CA361136325 | SIL1 | c.1377G>C (p.Glu459Asp) c.1398G>C (p.Glu466Asp) n.712G>C c.1407G>C (p.Glu469Asp) | dbSNP |
| 5 | g.138947126C>T | CA446793170 | SIL1 | c.1377G>A (p.Glu459=) c.1398G>A (p.Glu466=) n.712G>A c.1407G>A (p.Glu469=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.138947127T>A | CA361136327 | SIL1 | c.1376A>T (p.Glu459Val) c.1397A>T (p.Glu466Val) n.711A>T c.1406A>T (p.Glu469Val) | gnomAD v4 |
| 5 | g.138947127T>C | CA361136328 | SIL1 | c.1376A>G (p.Glu459Gly) c.1397A>G (p.Glu466Gly) n.711A>G c.1406A>G (p.Glu469Gly) | |
| 5 | g.138947127T>G | CA361136329 | SIL1 | c.1376A>C (p.Glu459Ala) c.1397A>C (p.Glu466Ala) n.711A>C c.1406A>C (p.Glu469Ala) | |
| 5 | g.138947127_138947128delinsTC | CA1586100189 | SIL1 | c.1375_1376delinsGA (p.Glu459=) c.1396_1397delinsGA (p.Glu466=) n.710_711delinsGA c.1405_1406delinsGA (p.Glu469=) | |
| 5 | g.138947128C>A | CA361136330 | SIL1 | c.1375G>T (p.Glu459Ter) c.1396G>T (p.Glu466Ter) n.710G>T c.1405G>T (p.Glu469Ter) | gnomAD v4 |
| 5 | g.138947128C>G | CA361136331 | SIL1 | c.1375G>C (p.Glu459Gln) c.1396G>C (p.Glu466Gln) n.710G>C c.1405G>C (p.Glu469Gln) | |
| 5 | g.138947128C>T | CA361136332 | SIL1 | c.1375G>A (p.Glu459Lys) c.1396G>A (p.Glu466Lys) n.710G>A c.1405G>A (p.Glu469Lys) | |
| 5 | g.138947129del | CA563498237 | SIL1 | c.1375del (p.Glu459SerfsTer2) c.1396del (p.Glu466SerfsTer2) n.710del c.1405del (p.Glu469SerfsTer2) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.138947129C>A | CA361136333 | SIL1 | c.1374G>T (p.Lys458Asn) c.1395G>T (p.Lys465Asn) n.709G>T c.1404G>T (p.Lys468Asn) | |
| 5 | g.138947129C>G | CA361136334 | SIL1 | c.1374G>C (p.Lys458Asn) c.1395G>C (p.Lys465Asn) n.709G>C c.1404G>C (p.Lys468Asn) | |
| 5 | g.138947129C>T | CA446793173 | SIL1 | c.1374G>A (p.Lys458=) c.1395G>A (p.Lys465=) n.709G>A c.1404G>A (p.Lys468=) | |
| 5 | g.138947130T>A | CA361136335 | SIL1 | c.1373A>T (p.Lys458Met) c.1394A>T (p.Lys465Met) n.708A>T c.1403A>T (p.Lys468Met) | |
| 5 | g.138947130T>C | CA361136336 | SIL1 | c.1373A>G (p.Lys458Arg) c.1394A>G (p.Lys465Arg) n.708A>G c.1403A>G (p.Lys468Arg) | |
| 5 | g.138947130T>G | CA361136337 | SIL1 | c.1373A>C (p.Lys458Thr) c.1394A>C (p.Lys465Thr) n.708A>C c.1403A>C (p.Lys468Thr) | |
| 5 | g.138947131T>A | CA361136338 | SIL1 | c.1372A>T (p.Lys458Ter) c.1393A>T (p.Lys465Ter) n.707A>T c.1402A>T (p.Lys468Ter) | |
| 5 | g.138947131T>C | CA361136339 | SIL1 | c.1372A>G (p.Lys458Glu) c.1393A>G (p.Lys465Glu) n.707A>G c.1402A>G (p.Lys468Glu) | gnomAD v4 |
| 5 | g.138947131T>G | CA361136340 | SIL1 | c.1372A>C (p.Lys458Gln) c.1393A>C (p.Lys465Gln) n.707A>C c.1402A>C (p.Lys468Gln) | |
| 5 | g.138947132C>A | CA446793174 | SIL1 | c.1371G>T (p.Leu457=) c.1392G>T (p.Leu464=) n.706G>T c.1401G>T (p.Leu467=) | |
| 5 | g.138947132C>G | CA446793175 | SIL1 | c.1371G>C (p.Leu457=) c.1392G>C (p.Leu464=) n.706G>C c.1401G>C (p.Leu467=) | |
| 5 | g.138947132C>T | CA446793176 | SIL1 | c.1371G>A (p.Leu457=) c.1392G>A (p.Leu464=) n.706G>A c.1401G>A (p.Leu467=) | |
| 5 | g.138947133A= | CA1586100190 | SIL1 | c.1370T= (p.Leu457=) c.1391T= (p.Leu464=) n.705T= c.1400T= (p.Leu467=) | |
| 5 | g.138947133A>C | CA361136342 | SIL1 | c.1370T>G (p.Leu457Arg) c.1391T>G (p.Leu464Arg) n.705T>G c.1400T>G (p.Leu467Arg) | |
| 5 | g.138947133A>G | CA252373 | SIL1 | c.1370T>C (p.Leu457Pro) c.1391T>C (p.Leu464Pro) n.705T>C c.1400T>C (p.Leu467Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.138947133A>T | CA361136341 | SIL1 | c.1370T>A (p.Leu457Gln) c.1391T>A (p.Leu464Gln) n.705T>A c.1400T>A (p.Leu467Gln) | |
| 5 | g.138947134G>A | CA446793179 | SIL1 | c.1369C>T (p.Leu457=) c.1390C>T (p.Leu464=) n.704C>T c.1399C>T (p.Leu467=) | |
| 5 | g.138947134G>C | CA361136344 | SIL1 | c.1369C>G (p.Leu457Val) c.1390C>G (p.Leu464Val) n.704C>G c.1399C>G (p.Leu467Val) | |
| 5 | g.138947134G>T | CA361136343 | SIL1 | c.1369C>A (p.Leu457Met) c.1390C>A (p.Leu464Met) n.704C>A c.1399C>A (p.Leu467Met) | gnomAD v4 |
| 5 | g.138947135C>A | CA361136346 | SIL1 | c.1368G>T (p.Leu456Phe) c.1389G>T (p.Leu463Phe) n.703G>T c.1398G>T (p.Leu466Phe) | |
| 5 | g.138947135C= | CA1586100191 | SIL1 | c.1368G= (p.Leu456=) c.1389G= (p.Leu463=) n.703G= c.1398G= (p.Leu466=) | |
| 5 | g.138947135C>G | CA361136345 | SIL1 | c.1368G>C (p.Leu456Phe) c.1389G>C (p.Leu463Phe) n.703G>C c.1398G>C (p.Leu466Phe) | |
| 5 | g.138947135C>T | CA3432319 | SIL1 | c.1368G>A (p.Leu456=) c.1389G>A (p.Leu463=) n.703G>A c.1398G>A (p.Leu466=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.138947136A>C | CA361136347 | SIL1 | c.1367T>G (p.Leu456Trp) c.1388T>G (p.Leu463Trp) n.702T>G c.1397T>G (p.Leu466Trp) | |
| 5 | g.138947136A>G | CA361136348 | SIL1 | c.1367T>C (p.Leu456Ser) c.1388T>C (p.Leu463Ser) n.702T>C c.1397T>C (p.Leu466Ser) | |
| 5 | g.138947136A>T | CA361136349 | SIL1 | c.1367T>A (p.Leu456Ter) c.1388T>A (p.Leu463Ter) n.702T>A c.1397T>A (p.Leu466Ter) | |
| 5 | g.138947137del | CA2588340084 | SIL1 | c.1367del (p.Leu456CysfsTer2) c.1388del (p.Leu463CysfsTer2) n.702del c.1397del (p.Leu466CysfsTer2) | |
| 5 | g.138947137A>C | CA361136350 | SIL1 | c.1366T>G (p.Leu456Val) c.1387T>G (p.Leu463Val) n.701T>G c.1396T>G (p.Leu466Val) | |
| 5 | g.138947137A>G | CA446793182 | SIL1 | c.1366T>C (p.Leu456=) c.1387T>C (p.Leu463=) n.701T>C c.1396T>C (p.Leu466=) | |
| 5 | g.138947137A>T | CA361136351 | SIL1 | c.1366T>A (p.Leu456Met) c.1387T>A (p.Leu463Met) n.701T>A c.1396T>A (p.Leu466Met) | |
| 5 | g.138947138G>A | CA446793183 | SIL1 | c.1365C>T (p.Ser455=) c.1386C>T (p.Ser462=) n.700C>T c.1395C>T (p.Ser465=) | |
| 5 | g.138947138G>C | CA361136352 | SIL1 | c.1365C>G (p.Ser455Arg) c.1386C>G (p.Ser462Arg) n.700C>G c.1395C>G (p.Ser465Arg) | |
| 5 | g.138947138G>T | CA361136353 | SIL1 | c.1365C>A (p.Ser455Arg) c.1386C>A (p.Ser462Arg) n.700C>A c.1395C>A (p.Ser465Arg) | |
| 5 | g.138947139C>A | CA361136354 | SIL1 | c.1364G>T (p.Ser455Ile) c.1385G>T (p.Ser462Ile) n.699G>T c.1394G>T (p.Ser465Ile) | |
| 5 | g.138947139C>G | CA361136355 | SIL1 | c.1364G>C (p.Ser455Thr) c.1385G>C (p.Ser462Thr) n.699G>C c.1394G>C (p.Ser465Thr) | gnomAD v4 |
| 5 | g.138947139C>T | CA361136356 | SIL1 | c.1364G>A (p.Ser455Asn) c.1385G>A (p.Ser462Asn) n.699G>A c.1394G>A (p.Ser465Asn) | ClinVar |
| 5 | g.138947140T>A | CA361136359 | SIL1 | c.1363A>T (p.Ser455Cys) c.1384A>T (p.Ser462Cys) n.698A>T c.1393A>T (p.Ser465Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.138947140T>C | CA361136357 | SIL1 | c.1363A>G (p.Ser455Gly) c.1384A>G (p.Ser462Gly) n.698A>G c.1393A>G (p.Ser465Gly) | gnomAD v4 |
| 5 | g.138947140T>G | CA361136358 | SIL1 | c.1363A>C (p.Ser455Arg) c.1384A>C (p.Ser462Arg) n.698A>C c.1393A>C (p.Ser465Arg) | |
| 5 | g.138947140T= | CA1586100192 | SIL1 | c.1363A= (p.Ser455=) c.1384A= (p.Ser462=) n.698A= c.1393A= (p.Ser465=) | |
| 5 | g.138947141G>A | CA446793187 | SIL1 | c.1362C>T (p.Asn454=) c.1383C>T (p.Asn461=) n.697C>T c.1392C>T (p.Asn464=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.138947141G>C | CA361136360 | SIL1 | c.1362C>G (p.Asn454Lys) c.1383C>G (p.Asn461Lys) n.697C>G c.1392C>G (p.Asn464Lys) | gnomAD v4 |
| 5 | g.138947141G= | CA1586100193 | SIL1 | c.1362C= (p.Asn454=) c.1383C= (p.Asn461=) n.697C= c.1392C= (p.Asn464=) | |
| 5 | g.138947141G>T | CA361136361 | SIL1 | c.1362C>A (p.Asn454Lys) c.1383C>A (p.Asn461Lys) n.697C>A c.1392C>A (p.Asn464Lys) | |
| 5 | g.138947142T>A | CA361136362 | SIL1 | c.1361A>T (p.Asn454Ile) c.1382A>T (p.Asn461Ile) n.696A>T c.1391A>T (p.Asn464Ile) | |
| 5 | g.138947142T>C | CA361136363 | SIL1 | c.1361A>G (p.Asn454Ser) c.1382A>G (p.Asn461Ser) n.696A>G c.1391A>G (p.Asn464Ser) | dbSNP gnomAD v4 |
| 5 | g.138947142T>G | CA361136364 | SIL1 | c.1361A>C (p.Asn454Thr) c.1382A>C (p.Asn461Thr) n.696A>C c.1391A>C (p.Asn464Thr) | |
| 5 | g.138947142T= | CA1586100194 | SIL1 | c.1361A= (p.Asn454=) c.1382A= (p.Asn461=) n.696A= c.1391A= (p.Asn464=) | |
| 5 | g.138947143T>A | CA361136365 | SIL1 | c.1360A>T (p.Asn454Tyr) c.1381A>T (p.Asn461Tyr) n.695A>T c.1390A>T (p.Asn464Tyr) | |
| 5 | g.138947143T>C | CA361136366 | SIL1 | c.1360A>G (p.Asn454Asp) c.1381A>G (p.Asn461Asp) n.695A>G c.1390A>G (p.Asn464Asp) | gnomAD v4 |
| 5 | g.138947143T>G | CA361136367 | SIL1 | c.1360A>C (p.Asn454His) c.1381A>C (p.Asn461His) n.695A>C c.1390A>C (p.Asn464His) | |
| 5 | g.138947144G>A | CA446793190 | SIL1 | c.1359C>T (p.Val453=) c.1380C>T (p.Val460=) n.694C>T c.1389C>T (p.Val463=) | dbSNP |
| 5 | g.138947144G>C | CA446793191 | SIL1 | c.1359C>G (p.Val453=) c.1380C>G (p.Val460=) n.694C>G c.1389C>G (p.Val463=) | |
| 5 | g.138947144G>T | CA446793192 | SIL1 | c.1359C>A (p.Val453=) c.1380C>A (p.Val460=) n.694C>A c.1389C>A (p.Val463=) | |
| 5 | g.138947145A= | CA1586100195 | SIL1 | c.1358T= (p.Val453=) c.1379T= (p.Val460=) n.693T= c.1388T= (p.Val463=) | |
| 5 | g.138947145A>C | CA361136368 | SIL1 | c.1358T>G (p.Val453Gly) c.1379T>G (p.Val460Gly) n.693T>G c.1388T>G (p.Val463Gly) | |
| 5 | g.138947145A>G | CA3432320 | SIL1 | c.1358T>C (p.Val453Ala) c.1379T>C (p.Val460Ala) n.693T>C c.1388T>C (p.Val463Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.138947145A>T | CA361136369 | SIL1 | c.1358T>A (p.Val453Asp) c.1379T>A (p.Val460Asp) n.693T>A c.1388T>A (p.Val463Asp) | |
| 5 | g.138947146C>A | CA361136371 | SIL1 | c.1357G>T (p.Val453Phe) c.1378G>T (p.Val460Phe) n.692G>T c.1387G>T (p.Val463Phe) | |
| 5 | g.138947146C= | CA1586100196 | SIL1 | c.1357G= (p.Val453=) c.1378G= (p.Val460=) n.692G= c.1387G= (p.Val463=) | |
| 5 | g.138947146C>G | CA361136372 | SIL1 | c.1357G>C (p.Val453Leu) c.1378G>C (p.Val460Leu) n.692G>C c.1387G>C (p.Val463Leu) | |
| 5 | g.138947146C>T | CA361136370 | SIL1 | c.1357G>A (p.Val453Ile) c.1378G>A (p.Val460Ile) n.692G>A c.1387G>A (p.Val463Ile) | |
| 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) |