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 |
|---|---|---|---|---|---|
| 2 | g.47795896_47805709del | CA658655622 | FBXO11,MSH6 | c.163_3349+2del c.460_3262+2del n.544_4320+2del c.460_2080+2del c.460_3652+2del c.460_1101+2del c.460_3646+2del c.238-2715_3256+2del c.169+2491_170-6451del (n.169+2491_170-6451del) c.*124+2290_*125-6451del (n.*124+2290_*125-6451del) c.458-2715_*2993+2del c.-443_2740+2del c.-279-2715_2740+2del c.-2637_550+2del c.277_3463+2del | |
| 2 | g.47799557_47804482dup | CA10575504 | FBXO11,MSH6 | c.1277_3142-428dup c.1574_3173-1136dup n.1658_3523-428dup c.1574_1873-428dup c.1580_3445-428dup c.627+3494_894-428dup c.731_2330-1136dup c.1574_3439-428dup c.1184_3049-428dup c.169+3714_169+8639dup (n.169+3714_169+8639dup) c.*124+3513_*124+8438dup (n.*124+3513_*124+8438dup) c.*921_*2786-428dup c.668_2533-428dup c.-1523_335-420dup c.1391_3256-428dup | ClinVar |
| 2 | g.47799740_47800212dup | CA2580067691 | FBXO11,MSH6 | c.1460_1932dup (p.Glu645TrpfsTer24) c.1757_2229dup (p.Glu744TrpfsTer24) n.1841_2313dup c.1606+151_1606+623dup (n.1606+151_1606+623dup) c.1763_2235dup (p.Glu746TrpfsTer24) c.627+3677_628-3208dup (n.627+3677_628-3208dup) c.914_1386dup (p.Glu463TrpfsTer24) c.1367_1839dup (p.Glu614TrpfsTer24) c.169+7984_169+8456dup (n.169+7984_169+8456dup) c.*124+7783_*124+8255dup (n.*124+7783_*124+8255dup) c.*1104_*1576dup (n.*1104_*1576dup) c.851_1323dup (p.Glu442TrpfsTer24) c.1754_2226dup (p.Glu743TrpfsTer24) c.-1340_-868dup (n.-1340_-868dup) c.1574_2046dup (p.Glu683TrpfsTer24) | ClinVar |
| 2 | g.47799909_47799920dup | CA2580067731 | FBXO11,MSH6 | c.1629_1640dup (p.Glu546_Lys547insAsnPheArgGlu) c.1926_1937dup (p.Glu645_Lys646insAsnPheArgGlu) n.2010_2021dup c.1606+320_1606+331dup (n.1606+320_1606+331dup) c.1932_1943dup (p.Glu647_Lys648insAsnPheArgGlu) c.628-3511_628-3500dup (n.628-3511_628-3500dup) c.1083_1094dup (p.Glu364_Lys365insAsnPheArgGlu) c.1536_1547dup (p.Glu515_Lys516insAsnPheArgGlu) c.169+8276_169+8287dup (n.169+8276_169+8287dup) c.*124+8075_*124+8086dup (n.*124+8075_*124+8086dup) c.*1273_*1284dup (n.*1273_*1284dup) c.1020_1031dup (p.Glu343_Lys344insAsnPheArgGlu) c.1923_1934dup (p.Glu644_Lys645insAsnPheArgGlu) c.-1171_-1160dup (n.-1171_-1160dup) c.1743_1754dup (p.Glu584_Lys585insAsnPheArgGlu) | ClinVar |
| 2 | g.47799913_47799930delinsAGGGAAAAGCTAAGTGAT | CA2496049117 | FBXO11,MSH6 | c.1633_1650delinsAGGGAAAAGCTAAGTGAT (p.Arg545=) c.1930_1947delinsAGGGAAAAGCTAAGTGAT (p.Arg644=) n.2014_2031delinsAGGGAAAAGCTAAGTGAT c.1606+324_1606+341delinsAGGGAAAAGCTAAGTGAT (n.1606+324_1606+341delinsAGGGAAAAGCTAAGTGAT) c.1936_1953delinsAGGGAAAAGCTAAGTGAT (p.Arg646=) c.628-3507_628-3490delinsAGGGAAAAGCTAAGTGAT (n.628-3507_628-3490delinsAGGGAAAAGCTAAGTGAT) c.1087_1104delinsAGGGAAAAGCTAAGTGAT (p.Arg363=) c.1540_1557delinsAGGGAAAAGCTAAGTGAT (p.Arg514=) c.169+8265_169+8282delinsATCACTTAGCTTTTCCCT (n.169+8265_169+8282delinsATCACTTAGCTTTTCCCT) c.*124+8064_*124+8081delinsATCACTTAGCTTTTCCCT (n.*124+8064_*124+8081delinsATCACTTAGCTTTTCCCT) c.*1277_*1294delinsAGGGAAAAGCTAAGTGAT (n.*1277_*1294delinsAGGGAAAAGCTAAGTGAT) c.1024_1041delinsAGGGAAAAGCTAAGTGAT (p.Arg342=) c.1927_1944delinsAGGGAAAAGCTAAGTGAT (p.Arg643=) c.-1167_-1150delinsAGGGAAAAGCTAAGTGAT (n.-1167_-1150delinsAGGGAAAAGCTAAGTGAT) c.1747_1764delinsAGGGAAAAGCTAAGTGAT (p.Arg583=) | |
| 2 | g.47799916del | CA913190109 | FBXO11,MSH6 | c.1636del (p.Glu546LysfsTer3) c.1933del (p.Glu645LysfsTer3) n.2017del c.1606+327del (n.1606+327del) c.1939del (p.Glu647LysfsTer3) c.628-3504del (n.628-3504del) c.1090del (p.Glu364LysfsTer3) c.1543del (p.Glu515LysfsTer3) c.169+8281del (n.169+8281del) c.*124+8080del (n.*124+8080del) c.*1280del (n.*1280del) c.1027del (p.Glu343LysfsTer3) c.1930del (p.Glu644LysfsTer3) c.-1164del (n.-1164del) c.1750del (p.Glu584LysfsTer3) | ClinVar dbSNP |
| 2 | g.47799916_47799932del | CA1139655704 | FBXO11,MSH6 | c.1636_1652del (p.Glu546HisfsTer10) c.1933_1949del (p.Glu645HisfsTer10) n.2017_2033del c.1606+327_1606+343del (n.1606+327_1606+343del) c.1939_1955del (p.Glu647HisfsTer10) c.628-3504_628-3488del (n.628-3504_628-3488del) c.1090_1106del (p.Glu364HisfsTer10) c.1543_1559del (p.Glu515HisfsTer10) c.169+8265_169+8281del (n.169+8265_169+8281del) c.*124+8064_*124+8080del (n.*124+8064_*124+8080del) c.*1280_*1296del (n.*1280_*1296del) c.1027_1043del (p.Glu343HisfsTer10) c.1930_1946del (p.Glu644HisfsTer10) c.-1164_-1148del (n.-1164_-1148del) c.1750_1766del (p.Glu584HisfsTer10) | ClinVar dbSNP |
| 2 | g.47799916G>A | CA346750393 | FBXO11,MSH6 | c.1636G>A (p.Glu546Lys) c.1933G>A (p.Glu645Lys) n.2017G>A c.1606+327G>A (n.1606+327G>A) c.1939G>A (p.Glu647Lys) c.628-3504G>A (n.628-3504G>A) c.1090G>A (p.Glu364Lys) c.1543G>A (p.Glu515Lys) c.169+8279C>T (n.169+8279C>T) c.*124+8078C>T (n.*124+8078C>T) c.*1280G>A (n.*1280G>A) c.1027G>A (p.Glu343Lys) c.1930G>A (p.Glu644Lys) c.-1164G>A (n.-1164G>A) c.1750G>A (p.Glu584Lys) | dbSNP gnomAD v4 |
| 2 | g.47799916G>C | CA346750395 | FBXO11,MSH6 | c.1636G>C (p.Glu546Gln) c.1933G>C (p.Glu645Gln) n.2017G>C c.1606+327G>C (n.1606+327G>C) c.1939G>C (p.Glu647Gln) c.628-3504G>C (n.628-3504G>C) c.1090G>C (p.Glu364Gln) c.1543G>C (p.Glu515Gln) c.169+8279C>G (n.169+8279C>G) c.*124+8078C>G (n.*124+8078C>G) c.*1280G>C (n.*1280G>C) c.1027G>C (p.Glu343Gln) c.1930G>C (p.Glu644Gln) c.-1164G>C (n.-1164G>C) c.1750G>C (p.Glu584Gln) | |
| 2 | g.47799916G= | CA2496049120 | FBXO11,MSH6 | c.1636G= (p.Glu546=) c.1933G= (p.Glu645=) n.2017G= c.1606+327G= (n.1606+327G=) c.1939G= (p.Glu647=) c.628-3504G= (n.628-3504G=) c.1090G= (p.Glu364=) c.1543G= (p.Glu515=) c.169+8279C= (n.169+8279C=) c.*124+8078C= (n.*124+8078C=) c.*1280G= (n.*1280G=) c.1027G= (p.Glu343=) c.1930G= (p.Glu644=) c.-1164G= (n.-1164G=) c.1750G= (p.Glu584=) | |
| 2 | g.47799916G>T | CA16617661 | FBXO11,MSH6 | c.1636G>T (p.Glu546Ter) c.1933G>T (p.Glu645Ter) n.2017G>T c.1606+327G>T (n.1606+327G>T) c.1939G>T (p.Glu647Ter) c.628-3504G>T (n.628-3504G>T) c.1090G>T (p.Glu364Ter) c.1543G>T (p.Glu515Ter) c.169+8279C>A (n.169+8279C>A) c.*124+8078C>A (n.*124+8078C>A) c.*1280G>T (n.*1280G>T) c.1027G>T (p.Glu343Ter) c.1930G>T (p.Glu644Ter) c.-1164G>T (n.-1164G>T) c.1750G>T (p.Glu584Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.47799916_47799917delinsGA | CA2496049121 | FBXO11,MSH6 | c.1636_1637delinsGA (p.Glu546=) c.1933_1934delinsGA (p.Glu645=) n.2017_2018delinsGA c.1606+327_1606+328delinsGA (n.1606+327_1606+328delinsGA) c.1939_1940delinsGA (p.Glu647=) c.628-3504_628-3503delinsGA (n.628-3504_628-3503delinsGA) c.1090_1091delinsGA (p.Glu364=) c.1543_1544delinsGA (p.Glu515=) c.169+8278_169+8279delinsTC (n.169+8278_169+8279delinsTC) c.*124+8077_*124+8078delinsTC (n.*124+8077_*124+8078delinsTC) c.*1280_*1281delinsGA (n.*1280_*1281delinsGA) c.1027_1028delinsGA (p.Glu343=) c.1930_1931delinsGA (p.Glu644=) c.-1164_-1163delinsGA (n.-1164_-1163delinsGA) c.1750_1751delinsGA (p.Glu584=) | |
| 2 | g.47799917A>C | CA346750401 | FBXO11,MSH6 | c.1637A>C (p.Glu546Ala) c.1934A>C (p.Glu645Ala) n.2018A>C c.1606+328A>C (n.1606+328A>C) c.1940A>C (p.Glu647Ala) c.628-3503A>C (n.628-3503A>C) c.1091A>C (p.Glu364Ala) c.1544A>C (p.Glu515Ala) c.169+8278T>G (n.169+8278T>G) c.*124+8077T>G (n.*124+8077T>G) c.*1281A>C (n.*1281A>C) c.1028A>C (p.Glu343Ala) c.1931A>C (p.Glu644Ala) c.-1163A>C (n.-1163A>C) c.1751A>C (p.Glu584Ala) | |
| 2 | g.47799917A>G | CA346750407 | FBXO11,MSH6 | c.1637A>G (p.Glu546Gly) c.1934A>G (p.Glu645Gly) n.2018A>G c.1606+328A>G (n.1606+328A>G) c.1940A>G (p.Glu647Gly) c.628-3503A>G (n.628-3503A>G) c.1091A>G (p.Glu364Gly) c.1544A>G (p.Glu515Gly) c.169+8278T>C (n.169+8278T>C) c.*124+8077T>C (n.*124+8077T>C) c.*1281A>G (n.*1281A>G) c.1028A>G (p.Glu343Gly) c.1931A>G (p.Glu644Gly) c.-1163A>G (n.-1163A>G) c.1751A>G (p.Glu584Gly) | ClinVar dbSNP |
| 2 | g.47799917A>T | CA346750404 | FBXO11,MSH6 | c.1637A>T (p.Glu546Val) c.1934A>T (p.Glu645Val) n.2018A>T c.1606+328A>T (n.1606+328A>T) c.1940A>T (p.Glu647Val) c.628-3503A>T (n.628-3503A>T) c.1091A>T (p.Glu364Val) c.1544A>T (p.Glu515Val) c.169+8278T>A (n.169+8278T>A) c.*124+8077T>A (n.*124+8077T>A) c.*1281A>T (n.*1281A>T) c.1028A>T (p.Glu343Val) c.1931A>T (p.Glu644Val) c.-1163A>T (n.-1163A>T) c.1751A>T (p.Glu584Val) | dbSNP |
| 2 | g.47799920del | CA532705470 | FBXO11,MSH6 | c.1640del (p.Lys547SerfsTer2) c.1937del (p.Lys646SerfsTer2) n.2021del c.1606+331del (n.1606+331del) c.1943del (p.Lys648SerfsTer2) c.628-3500del (n.628-3500del) c.1094del (p.Lys365SerfsTer2) c.1547del (p.Lys516SerfsTer2) c.169+8278del (n.169+8278del) c.*124+8077del (n.*124+8077del) c.*1284del (n.*1284del) c.1031del (p.Lys344SerfsTer2) c.1934del (p.Lys645SerfsTer2) c.-1160del (n.-1160del) c.1754del (p.Lys585SerfsTer2) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.47799918A= | CA2496049122 | FBXO11,MSH6 | c.1638A= (p.Glu546=) c.1935A= (p.Glu645=) n.2019A= c.1606+329A= (n.1606+329A=) c.1941A= (p.Glu647=) c.628-3502A= (n.628-3502A=) c.1092A= (p.Glu364=) c.1545A= (p.Glu515=) c.169+8277T= (n.169+8277T=) c.*124+8076T= (n.*124+8076T=) c.*1282A= (n.*1282A=) c.1029A= (p.Glu343=) c.1932A= (p.Glu644=) c.-1162A= (n.-1162A=) c.1752A= (p.Glu584=) | |
| 2 | g.47799918A>C | CA346750411 | FBXO11,MSH6 | c.1638A>C (p.Glu546Asp) c.1935A>C (p.Glu645Asp) n.2019A>C c.1606+329A>C (n.1606+329A>C) c.1941A>C (p.Glu647Asp) c.628-3502A>C (n.628-3502A>C) c.1092A>C (p.Glu364Asp) c.1545A>C (p.Glu515Asp) c.169+8277T>G (n.169+8277T>G) c.*124+8076T>G (n.*124+8076T>G) c.*1282A>C (n.*1282A>C) c.1029A>C (p.Glu343Asp) c.1932A>C (p.Glu644Asp) c.-1162A>C (n.-1162A>C) c.1752A>C (p.Glu584Asp) | |
| 2 | g.47799918A>G | CA068282 | FBXO11,MSH6 | c.1638A>G (p.Glu546=) c.1935A>G (p.Glu645=) n.2019A>G c.1606+329A>G (n.1606+329A>G) c.1941A>G (p.Glu647=) c.628-3502A>G (n.628-3502A>G) c.1092A>G (p.Glu364=) c.1545A>G (p.Glu515=) c.169+8277T>C (n.169+8277T>C) c.*124+8076T>C (n.*124+8076T>C) c.*1282A>G (n.*1282A>G) c.1029A>G (p.Glu343=) c.1932A>G (p.Glu644=) c.-1162A>G (n.-1162A>G) c.1752A>G (p.Glu584=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.47799918A>T | CA346750416 | FBXO11,MSH6 | c.1638A>T (p.Glu546Asp) c.1935A>T (p.Glu645Asp) n.2019A>T c.1606+329A>T (n.1606+329A>T) c.1941A>T (p.Glu647Asp) c.628-3502A>T (n.628-3502A>T) c.1092A>T (p.Glu364Asp) c.1545A>T (p.Glu515Asp) c.169+8277T>A (n.169+8277T>A) c.*124+8076T>A (n.*124+8076T>A) c.*1282A>T (n.*1282A>T) c.1029A>T (p.Glu343Asp) c.1932A>T (p.Glu644Asp) c.-1162A>T (n.-1162A>T) c.1752A>T (p.Glu584Asp) | dbSNP |
| 2 | g.47799919A>C | CA346750419 | FBXO11,MSH6 | c.1639A>C (p.Lys547Gln) c.1936A>C (p.Lys646Gln) n.2020A>C c.1606+330A>C (n.1606+330A>C) c.1942A>C (p.Lys648Gln) c.628-3501A>C (n.628-3501A>C) c.1093A>C (p.Lys365Gln) c.1546A>C (p.Lys516Gln) c.169+8276T>G (n.169+8276T>G) c.*124+8075T>G (n.*124+8075T>G) c.*1283A>C (n.*1283A>C) c.1030A>C (p.Lys344Gln) c.1933A>C (p.Lys645Gln) c.-1161A>C (n.-1161A>C) c.1753A>C (p.Lys585Gln) | dbSNP |
| 2 | g.47799919A>G | CA346750422 | FBXO11,MSH6 | c.1639A>G (p.Lys547Glu) c.1936A>G (p.Lys646Glu) n.2020A>G c.1606+330A>G (n.1606+330A>G) c.1942A>G (p.Lys648Glu) c.628-3501A>G (n.628-3501A>G) c.1093A>G (p.Lys365Glu) c.1546A>G (p.Lys516Glu) c.169+8276T>C (n.169+8276T>C) c.*124+8075T>C (n.*124+8075T>C) c.*1283A>G (n.*1283A>G) c.1030A>G (p.Lys344Glu) c.1933A>G (p.Lys645Glu) c.-1161A>G (n.-1161A>G) c.1753A>G (p.Lys585Glu) | ClinVar dbSNP |
| 2 | g.47799919A>T | CA346750426 | FBXO11,MSH6 | c.1639A>T (p.Lys547Ter) c.1936A>T (p.Lys646Ter) n.2020A>T c.1606+330A>T (n.1606+330A>T) c.1942A>T (p.Lys648Ter) c.628-3501A>T (n.628-3501A>T) c.1093A>T (p.Lys365Ter) c.1546A>T (p.Lys516Ter) c.169+8276T>A (n.169+8276T>A) c.*124+8075T>A (n.*124+8075T>A) c.*1283A>T (n.*1283A>T) c.1030A>T (p.Lys344Ter) c.1933A>T (p.Lys645Ter) c.-1161A>T (n.-1161A>T) c.1753A>T (p.Lys585Ter) | dbSNP |
| 2 | g.47799920A= | CA2496049123 | FBXO11,MSH6 | c.1640A= (p.Lys547=) c.1937A= (p.Lys646=) n.2021A= c.1606+331A= (n.1606+331A=) c.1943A= (p.Lys648=) c.628-3500A= (n.628-3500A=) c.1094A= (p.Lys365=) c.1547A= (p.Lys516=) c.169+8275T= (n.169+8275T=) c.*124+8074T= (n.*124+8074T=) c.*1284A= (n.*1284A=) c.1031A= (p.Lys344=) c.1934A= (p.Lys645=) c.-1160A= (n.-1160A=) c.1754A= (p.Lys585=) | |
| 2 | g.47799920A>C | CA346750435 | FBXO11,MSH6 | c.1640A>C (p.Lys547Thr) c.1937A>C (p.Lys646Thr) n.2021A>C c.1606+331A>C (n.1606+331A>C) c.1943A>C (p.Lys648Thr) c.628-3500A>C (n.628-3500A>C) c.1094A>C (p.Lys365Thr) c.1547A>C (p.Lys516Thr) c.169+8275T>G (n.169+8275T>G) c.*124+8074T>G (n.*124+8074T>G) c.*1284A>C (n.*1284A>C) c.1031A>C (p.Lys344Thr) c.1934A>C (p.Lys645Thr) c.-1160A>C (n.-1160A>C) c.1754A>C (p.Lys585Thr) | |
| 2 | g.47799920A>G | CA068286 | FBXO11,MSH6 | c.1640A>G (p.Lys547Arg) c.1937A>G (p.Lys646Arg) n.2021A>G c.1606+331A>G (n.1606+331A>G) c.1943A>G (p.Lys648Arg) c.628-3500A>G (n.628-3500A>G) c.1094A>G (p.Lys365Arg) c.1547A>G (p.Lys516Arg) c.169+8275T>C (n.169+8275T>C) c.*124+8074T>C (n.*124+8074T>C) c.*1284A>G (n.*1284A>G) c.1031A>G (p.Lys344Arg) c.1934A>G (p.Lys645Arg) c.-1160A>G (n.-1160A>G) c.1754A>G (p.Lys585Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.47799920A>T | CA346750432 | FBXO11,MSH6 | c.1640A>T (p.Lys547Met) c.1937A>T (p.Lys646Met) n.2021A>T c.1606+331A>T (n.1606+331A>T) c.1943A>T (p.Lys648Met) c.628-3500A>T (n.628-3500A>T) c.1094A>T (p.Lys365Met) c.1547A>T (p.Lys516Met) c.169+8275T>A (n.169+8275T>A) c.*124+8074T>A (n.*124+8074T>A) c.*1284A>T (n.*1284A>T) c.1031A>T (p.Lys344Met) c.1934A>T (p.Lys645Met) c.-1160A>T (n.-1160A>T) c.1754A>T (p.Lys585Met) | dbSNP |
| 2 | g.47799921G>A | CA068291 | FBXO11,MSH6 | c.1641G>A (p.Lys547=) c.1938G>A (p.Lys646=) n.2022G>A c.1606+332G>A (n.1606+332G>A) c.1944G>A (p.Lys648=) c.628-3499G>A (n.628-3499G>A) c.1095G>A (p.Lys365=) c.1548G>A (p.Lys516=) c.169+8274C>T (n.169+8274C>T) c.*124+8073C>T (n.*124+8073C>T) c.*1285G>A (n.*1285G>A) c.1032G>A (p.Lys344=) c.1935G>A (p.Lys645=) c.-1159G>A (n.-1159G>A) c.1755G>A (p.Lys585=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.47799921G>C | CA346750442 | FBXO11,MSH6 | c.1641G>C (p.Lys547Asn) c.1938G>C (p.Lys646Asn) n.2022G>C c.1606+332G>C (n.1606+332G>C) c.1944G>C (p.Lys648Asn) c.628-3499G>C (n.628-3499G>C) c.1095G>C (p.Lys365Asn) c.1548G>C (p.Lys516Asn) c.169+8274C>G (n.169+8274C>G) c.*124+8073C>G (n.*124+8073C>G) c.*1285G>C (n.*1285G>C) c.1032G>C (p.Lys344Asn) c.1935G>C (p.Lys645Asn) c.-1159G>C (n.-1159G>C) c.1755G>C (p.Lys585Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.47799921G= | CA2496049124 | FBXO11,MSH6 | c.1641G= (p.Lys547=) c.1938G= (p.Lys646=) n.2022G= c.1606+332G= (n.1606+332G=) c.1944G= (p.Lys648=) c.628-3499G= (n.628-3499G=) c.1095G= (p.Lys365=) c.1548G= (p.Lys516=) c.169+8274C= (n.169+8274C=) c.*124+8073C= (n.*124+8073C=) c.*1285G= (n.*1285G=) c.1032G= (p.Lys344=) c.1935G= (p.Lys645=) c.-1159G= (n.-1159G=) c.1755G= (p.Lys585=) | |
| 2 | g.47799921G>T | CA346750445 | FBXO11,MSH6 | c.1641G>T (p.Lys547Asn) c.1938G>T (p.Lys646Asn) n.2022G>T c.1606+332G>T (n.1606+332G>T) c.1944G>T (p.Lys648Asn) c.628-3499G>T (n.628-3499G>T) c.1095G>T (p.Lys365Asn) c.1548G>T (p.Lys516Asn) c.169+8274C>A (n.169+8274C>A) c.*124+8073C>A (n.*124+8073C>A) c.*1285G>T (n.*1285G>T) c.1032G>T (p.Lys344Asn) c.1935G>T (p.Lys645Asn) c.-1159G>T (n.-1159G>T) c.1755G>T (p.Lys585Asn) | ClinVar dbSNP gnomAD v4 |
| 2 | g.47799921_47799925delinsTATTCTT | CA2695200651 | FBXO11,MSH6 | c.1641_1645delinsTATTCTT (p.Lys547AsnfsTer9) c.1938_1942delinsTATTCTT (p.Lys646AsnfsTer9) n.2022_2026delinsTATTCTT c.1606+332_1606+336delinsTATTCTT (n.1606+332_1606+336delinsTATTCTT) c.1944_1948delinsTATTCTT (p.Lys648AsnfsTer9) c.628-3499_628-3495delinsTATTCTT (n.628-3499_628-3495delinsTATTCTT) c.1095_1099delinsTATTCTT (p.Lys365AsnfsTer9) c.1548_1552delinsTATTCTT (p.Lys516AsnfsTer9) c.169+8270_169+8274delinsAAGAATA (n.169+8270_169+8274delinsAAGAATA) c.*124+8069_*124+8073delinsAAGAATA (n.*124+8069_*124+8073delinsAAGAATA) c.*1285_*1289delinsTATTCTT (n.*1285_*1289delinsTATTCTT) c.1032_1036delinsTATTCTT (p.Lys344AsnfsTer9) c.1935_1939delinsTATTCTT (p.Lys645AsnfsTer9) c.-1159_-1155delinsTATTCTT (n.-1159_-1155delinsTATTCTT) c.1755_1759delinsTATTCTT (p.Lys585AsnfsTer9) | ClinVar |
| 2 | g.47799922_47799931del | CA2499216110 | FBXO11,MSH6 | c.1642_1651del (p.Leu548AlafsTer4) c.1939_1948del (p.Leu647AlafsTer4) n.2023_2032del c.1606+333_1606+342del (n.1606+333_1606+342del) c.1945_1954del (p.Leu649AlafsTer4) c.628-3498_628-3489del (n.628-3498_628-3489del) c.1096_1105del (p.Leu366AlafsTer4) c.1549_1558del (p.Leu517AlafsTer4) c.169+8265_169+8274del (n.169+8265_169+8274del) c.*124+8064_*124+8073del (n.*124+8064_*124+8073del) c.*1286_*1295del (n.*1286_*1295del) c.1033_1042del (p.Leu345AlafsTer4) c.1936_1945del (p.Leu646AlafsTer4) c.-1158_-1149del (n.-1158_-1149del) c.1756_1765del (p.Leu586AlafsTer4) | ClinVar dbSNP |
| 2 | g.47799922C>A | CA346750449 | FBXO11,MSH6 | c.1642C>A (p.Leu548Ile) c.1939C>A (p.Leu647Ile) n.2023C>A c.1606+333C>A (n.1606+333C>A) c.1945C>A (p.Leu649Ile) c.628-3498C>A (n.628-3498C>A) c.1096C>A (p.Leu366Ile) c.1549C>A (p.Leu517Ile) c.169+8273G>T (n.169+8273G>T) c.*124+8072G>T (n.*124+8072G>T) c.*1286C>A (n.*1286C>A) c.1033C>A (p.Leu345Ile) c.1936C>A (p.Leu646Ile) c.-1158C>A (n.-1158C>A) c.1756C>A (p.Leu586Ile) | dbSNP |
| 2 | g.47799922C>G | CA346750452 | FBXO11,MSH6 | c.1642C>G (p.Leu548Val) c.1939C>G (p.Leu647Val) n.2023C>G c.1606+333C>G (n.1606+333C>G) c.1945C>G (p.Leu649Val) c.628-3498C>G (n.628-3498C>G) c.1096C>G (p.Leu366Val) c.1549C>G (p.Leu517Val) c.169+8273G>C (n.169+8273G>C) c.*124+8072G>C (n.*124+8072G>C) c.*1286C>G (n.*1286C>G) c.1033C>G (p.Leu345Val) c.1936C>G (p.Leu646Val) c.-1158C>G (n.-1158C>G) c.1756C>G (p.Leu586Val) | ClinVar dbSNP |
| 2 | g.47799922C>T | CA426121337 | FBXO11,MSH6 | c.1642C>T (p.Leu548=) c.1939C>T (p.Leu647=) n.2023C>T c.1606+333C>T (n.1606+333C>T) c.1945C>T (p.Leu649=) c.628-3498C>T (n.628-3498C>T) c.1096C>T (p.Leu366=) c.1549C>T (p.Leu517=) c.169+8273G>A (n.169+8273G>A) c.*124+8072G>A (n.*124+8072G>A) c.*1286C>T (n.*1286C>T) c.1033C>T (p.Leu345=) c.1936C>T (p.Leu646=) c.-1158C>T (n.-1158C>T) c.1756C>T (p.Leu586=) | ClinVar dbSNP |
| 2 | g.47799923T>A | CA346750456 | FBXO11,MSH6 | c.1643T>A (p.Leu548Gln) c.1940T>A (p.Leu647Gln) n.2024T>A c.1606+334T>A (n.1606+334T>A) c.1946T>A (p.Leu649Gln) c.628-3497T>A (n.628-3497T>A) c.1097T>A (p.Leu366Gln) c.1550T>A (p.Leu517Gln) c.169+8272A>T (n.169+8272A>T) c.*124+8071A>T (n.*124+8071A>T) c.*1287T>A (n.*1287T>A) c.1034T>A (p.Leu345Gln) c.1937T>A (p.Leu646Gln) c.-1157T>A (n.-1157T>A) c.1757T>A (p.Leu586Gln) | ClinVar dbSNP |
| 2 | g.47799923T>C | CA346750463 | FBXO11,MSH6 | c.1643T>C (p.Leu548Pro) c.1940T>C (p.Leu647Pro) n.2024T>C c.1606+334T>C (n.1606+334T>C) c.1946T>C (p.Leu649Pro) c.628-3497T>C (n.628-3497T>C) c.1097T>C (p.Leu366Pro) c.1550T>C (p.Leu517Pro) c.169+8272A>G (n.169+8272A>G) c.*124+8071A>G (n.*124+8071A>G) c.*1287T>C (n.*1287T>C) c.1034T>C (p.Leu345Pro) c.1937T>C (p.Leu646Pro) c.-1157T>C (n.-1157T>C) c.1757T>C (p.Leu586Pro) | ClinVar |
| 2 | g.47799923T>G | CA346750459 | FBXO11,MSH6 | c.1643T>G (p.Leu548Arg) c.1940T>G (p.Leu647Arg) n.2024T>G c.1606+334T>G (n.1606+334T>G) c.1946T>G (p.Leu649Arg) c.628-3497T>G (n.628-3497T>G) c.1097T>G (p.Leu366Arg) c.1550T>G (p.Leu517Arg) c.169+8272A>C (n.169+8272A>C) c.*124+8071A>C (n.*124+8071A>C) c.*1287T>G (n.*1287T>G) c.1034T>G (p.Leu345Arg) c.1937T>G (p.Leu646Arg) c.-1157T>G (n.-1157T>G) c.1757T>G (p.Leu586Arg) | |
| 2 | g.47799923T= | CA2496049125 | FBXO11,MSH6 | c.1643T= (p.Leu548=) c.1940T= (p.Leu647=) n.2024T= c.1606+334T= (n.1606+334T=) c.1946T= (p.Leu649=) c.628-3497T= (n.628-3497T=) c.1097T= (p.Leu366=) c.1550T= (p.Leu517=) c.169+8272A= (n.169+8272A=) c.*124+8071A= (n.*124+8071A=) c.*1287T= (n.*1287T=) c.1034T= (p.Leu345=) c.1937T= (p.Leu646=) c.-1157T= (n.-1157T=) c.1757T= (p.Leu586=) | |
| 2 | g.47799923dup | CA2580612571 | FBXO11,MSH6 | c.1643dup (p.Ser549LysfsTer2) c.1940dup (p.Ser648LysfsTer2) n.2024dup c.1606+334dup (n.1606+334dup) c.1946dup (p.Ser650LysfsTer2) c.628-3497dup (n.628-3497dup) c.1097dup (p.Ser367LysfsTer2) c.1550dup (p.Ser518LysfsTer2) c.169+8272dup (n.169+8272dup) c.*124+8071dup (n.*124+8071dup) c.*1287dup (n.*1287dup) c.1034dup (p.Ser346LysfsTer2) c.1937dup (p.Ser647LysfsTer2) c.-1157dup (n.-1157dup) c.1757dup (p.Ser587LysfsTer2) | ClinVar |
| 2 | g.47799924A>C | CA426121338 | FBXO11,MSH6 | c.1644A>C (p.Leu548=) c.1941A>C (p.Leu647=) n.2025A>C c.1606+335A>C (n.1606+335A>C) c.1947A>C (p.Leu649=) c.628-3496A>C (n.628-3496A>C) c.1098A>C (p.Leu366=) c.1551A>C (p.Leu517=) c.169+8271T>G (n.169+8271T>G) c.*124+8070T>G (n.*124+8070T>G) c.*1288A>C (n.*1288A>C) c.1035A>C (p.Leu345=) c.1938A>C (p.Leu646=) c.-1156A>C (n.-1156A>C) c.1758A>C (p.Leu586=) | |
| 2 | g.47799924A>G | CA426121339 | FBXO11,MSH6 | c.1644A>G (p.Leu548=) c.1941A>G (p.Leu647=) n.2025A>G c.1606+335A>G (n.1606+335A>G) c.1947A>G (p.Leu649=) c.628-3496A>G (n.628-3496A>G) c.1098A>G (p.Leu366=) c.1551A>G (p.Leu517=) c.169+8271T>C (n.169+8271T>C) c.*124+8070T>C (n.*124+8070T>C) c.*1288A>G (n.*1288A>G) c.1035A>G (p.Leu345=) c.1938A>G (p.Leu646=) c.-1156A>G (n.-1156A>G) c.1758A>G (p.Leu586=) | ClinVar dbSNP |
| 2 | g.47799924A>T | CA426121340 | FBXO11,MSH6 | c.1644A>T (p.Leu548=) c.1941A>T (p.Leu647=) n.2025A>T c.1606+335A>T (n.1606+335A>T) c.1947A>T (p.Leu649=) c.628-3496A>T (n.628-3496A>T) c.1098A>T (p.Leu366=) c.1551A>T (p.Leu517=) c.169+8271T>A (n.169+8271T>A) c.*124+8070T>A (n.*124+8070T>A) c.*1288A>T (n.*1288A>T) c.1035A>T (p.Leu345=) c.1938A>T (p.Leu646=) c.-1156A>T (n.-1156A>T) c.1758A>T (p.Leu586=) | dbSNP |
| 2 | g.47799925del | CA2699298285 | FBXO11,MSH6 | c.1645del (p.Ser549ValfsTer6) c.1942del (p.Ser648ValfsTer6) n.2026del c.1606+336del (n.1606+336del) c.1948del (p.Ser650ValfsTer6) c.628-3495del (n.628-3495del) c.1099del (p.Ser367ValfsTer6) c.1552del (p.Ser518ValfsTer6) c.169+8271del (n.169+8271del) c.*124+8070del (n.*124+8070del) c.*1289del (n.*1289del) c.1036del (p.Ser346ValfsTer6) c.1939del (p.Ser647ValfsTer6) c.-1155del (n.-1155del) c.1759del (p.Ser587ValfsTer6) | dbSNP |
| 2 | g.47799925A= | CA2496049126 | FBXO11,MSH6 | c.1645A= (p.Ser549=) c.1942A= (p.Ser648=) n.2026A= c.1606+336A= (n.1606+336A=) c.1948A= (p.Ser650=) c.628-3495A= (n.628-3495A=) c.1099A= (p.Ser367=) c.1552A= (p.Ser518=) c.169+8270T= (n.169+8270T=) c.*124+8069T= (n.*124+8069T=) c.*1289A= (n.*1289A=) c.1036A= (p.Ser346=) c.1939A= (p.Ser647=) c.-1155A= (n.-1155A=) c.1759A= (p.Ser587=) | |
| 2 | g.47799925A>C | CA346750466 | FBXO11,MSH6 | c.1645A>C (p.Ser549Arg) c.1942A>C (p.Ser648Arg) n.2026A>C c.1606+336A>C (n.1606+336A>C) c.1948A>C (p.Ser650Arg) c.628-3495A>C (n.628-3495A>C) c.1099A>C (p.Ser367Arg) c.1552A>C (p.Ser518Arg) c.169+8270T>G (n.169+8270T>G) c.*124+8069T>G (n.*124+8069T>G) c.*1289A>C (n.*1289A>C) c.1036A>C (p.Ser346Arg) c.1939A>C (p.Ser647Arg) c.-1155A>C (n.-1155A>C) c.1759A>C (p.Ser587Arg) | ClinVar dbSNP |
| 2 | g.47799925A>G | CA46709970 | FBXO11,MSH6 | c.1645A>G (p.Ser549Gly) c.1942A>G (p.Ser648Gly) n.2026A>G c.1606+336A>G (n.1606+336A>G) c.1948A>G (p.Ser650Gly) c.628-3495A>G (n.628-3495A>G) c.1099A>G (p.Ser367Gly) c.1552A>G (p.Ser518Gly) c.169+8270T>C (n.169+8270T>C) c.*124+8069T>C (n.*124+8069T>C) c.*1289A>G (n.*1289A>G) c.1036A>G (p.Ser346Gly) c.1939A>G (p.Ser647Gly) c.-1155A>G (n.-1155A>G) c.1759A>G (p.Ser587Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.47799925A>T | CA346750472 | FBXO11,MSH6 | c.1645A>T (p.Ser549Cys) c.1942A>T (p.Ser648Cys) n.2026A>T c.1606+336A>T (n.1606+336A>T) c.1948A>T (p.Ser650Cys) c.628-3495A>T (n.628-3495A>T) c.1099A>T (p.Ser367Cys) c.1552A>T (p.Ser518Cys) c.169+8270T>A (n.169+8270T>A) c.*124+8069T>A (n.*124+8069T>A) c.*1289A>T (n.*1289A>T) c.1036A>T (p.Ser346Cys) c.1939A>T (p.Ser647Cys) c.-1155A>T (n.-1155A>T) c.1759A>T (p.Ser587Cys) | dbSNP COSMIC |
| 2 | g.47799926del | CA2586969281 | FBXO11,MSH6 | c.1646del (p.Ser549MetfsTer6) c.1943del (p.Ser648MetfsTer6) n.2027del c.1606+337del (n.1606+337del) c.1949del (p.Ser650MetfsTer6) c.628-3494del (n.628-3494del) c.1100del (p.Ser367MetfsTer6) c.1553del (p.Ser518MetfsTer6) c.169+8269del (n.169+8269del) c.*124+8068del (n.*124+8068del) c.*1290del (n.*1290del) c.1037del (p.Ser346MetfsTer6) c.1940del (p.Ser647MetfsTer6) c.-1154del (n.-1154del) c.1760del (p.Ser587MetfsTer6) |