| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.47795896_47805709del | CA658655622 | MSH6 | c.460_3646+2del c.238-2715_3256+2del c.163_3349+2del c.169+2491_170-6451del (p.=) c.*124+2290_*125-6451del (p.=) 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 | MSH6 | c.1574_3439-428dup c.1184_3049-428dup c.1277_3142-428dup c.169+3714_169+8639dup (p.=) c.*124+3513_*124+8438dup (p.=) c.*921_*2786-428dup c.668_2533-428dup c.-1523_335-420dup c.1391_3256-428dup | ClinVar |
| 2 | g.47799788_47799792delinsCAAAG | CA2496048999 | MSH6 | c.1805_1809delinsCAAAG (p.Ser602=) c.1415_1419delinsCAAAG (p.Ser472=) c.1508_1512delinsCAAAG (p.Ser503=) c.169+8403_169+8407delinsCTTTG (p.=) c.*124+8202_*124+8206delinsCTTTG (p.=) c.*1152_*1156delinsCAAAG (p.=) c.899_903delinsCAAAG (p.Ser300=) c.1802_1806delinsCAAAG (p.Ser601=) c.-1292_-1288delinsCAAAG (p.=) c.1622_1626delinsCAAAG (p.Ser541=) | |
| 2 | g.47799789A= | CA2496049000 | MSH6 | c.1806A= (p.Ser602=) c.1416A= (p.Ser472=) c.1509A= (p.Ser503=) c.169+8406T= (p.=) c.*124+8205T= (p.=) c.*1153A= (p.=) c.900A= (p.Ser300=) c.1803A= (p.Ser601=) c.-1291A= (p.=) c.1623A= (p.Ser541=) | |
| 2 | g.47799789A>C | CA16604182 | MSH6 | c.1806A>C (p.Ser602=) c.1416A>C (p.Ser472=) c.1509A>C (p.Ser503=) c.169+8406T>G (p.=) c.*124+8205T>G (p.=) c.*1153A>C (p.=) c.900A>C (p.Ser300=) c.1803A>C (p.Ser601=) c.-1291A>C (p.=) c.1623A>C (p.Ser541=) | ClinVar |
| 2 | g.47799789A>G | CA426121161 | MSH6 | c.1806A>G (p.Ser602=) c.1416A>G (p.Ser472=) c.1509A>G (p.Ser503=) c.169+8406T>C (p.=) c.*124+8205T>C (p.=) c.*1153A>G (p.=) c.900A>G (p.Ser300=) c.1803A>G (p.Ser601=) c.-1291A>G (p.=) c.1623A>G (p.Ser541=) | ClinVar |
| 2 | g.47799789A>T | CA426121160 | MSH6 | c.1806A>T (p.Ser602=) c.1416A>T (p.Ser472=) c.1509A>T (p.Ser503=) c.169+8406T>A (p.=) c.*124+8205T>A (p.=) c.*1153A>T (p.=) c.900A>T (p.Ser300=) c.1803A>T (p.Ser601=) c.-1291A>T (p.=) c.1623A>T (p.Ser541=) | |
| 2 | g.47799791dup | CA658822257 | MSH6 | c.1808dup (p.Glu604GlyfsTer3) c.1418dup (p.Glu474GlyfsTer3) c.1511dup (p.Glu505GlyfsTer3) c.169+8406dup (p.=) c.*124+8205dup (p.=) c.*1155dup (p.=) c.902dup (p.Glu302GlyfsTer3) c.1805dup (p.Glu603GlyfsTer3) c.-1289dup (p.=) c.1625dup (p.Glu543GlyfsTer3) | ClinVar dbSNP |
| 2 | g.47799789_47799792del | CA009238 | MSH6 | c.1806_1809del (p.Glu604LeufsTer5) c.1416_1419del (p.Glu474LeufsTer5) c.1509_1512del (p.Glu505LeufsTer5) c.169+8403_169+8406del (p.=) c.*124+8202_*124+8205del (p.=) c.*1153_*1156del (p.=) c.900_903del (p.Glu302LeufsTer5) c.1803_1806del (p.Glu603LeufsTer5) c.-1291_-1288del (p.=) c.1623_1626del (p.Glu543LeufsTer5) | ClinVar dbSNP |
| 2 | g.47799790A= | CA2496049001 | MSH6 | c.1807A= (p.Lys603=) c.1417A= (p.Lys473=) c.1510A= (p.Lys504=) c.169+8405T= (p.=) c.*124+8204T= (p.=) c.*1154A= (p.=) c.901A= (p.Lys301=) c.1804A= (p.Lys602=) c.-1290A= (p.=) c.1624A= (p.Lys542=) | |
| 2 | g.47799790A>C | CA346749366 | MSH6 | c.1807A>C (p.Lys603Gln) c.1417A>C (p.Lys473Gln) c.1510A>C (p.Lys504Gln) c.169+8405T>G (p.=) c.*124+8204T>G (p.=) c.*1154A>C (p.=) c.901A>C (p.Lys301Gln) c.1804A>C (p.Lys602Gln) c.-1290A>C (p.=) c.1624A>C (p.Lys542Gln) | |
| 2 | g.47799790A>G | CA346749367 | MSH6 | c.1807A>G (p.Lys603Glu) c.1417A>G (p.Lys473Glu) c.1510A>G (p.Lys504Glu) c.169+8405T>C (p.=) c.*124+8204T>C (p.=) c.*1154A>G (p.=) c.901A>G (p.Lys301Glu) c.1804A>G (p.Lys602Glu) c.-1290A>G (p.=) c.1624A>G (p.Lys542Glu) | |
| 2 | g.47799790A>T | CA346749369 | MSH6 | c.1807A>T (p.Lys603Ter) c.1417A>T (p.Lys473Ter) c.1510A>T (p.Lys504Ter) c.169+8405T>A (p.=) c.*124+8204T>A (p.=) c.*1154A>T (p.=) c.901A>T (p.Lys301Ter) c.1804A>T (p.Lys602Ter) c.-1290A>T (p.=) c.1624A>T (p.Lys542Ter) | ClinVar |
| 2 | g.47799791A= | CA2496049002 | MSH6 | c.1808A= (p.Lys603=) c.1418A= (p.Lys473=) c.1511A= (p.Lys504=) c.169+8404T= (p.=) c.*124+8203T= (p.=) c.*1155A= (p.=) c.902A= (p.Lys301=) c.1805A= (p.Lys602=) c.-1289A= (p.=) c.1625A= (p.Lys542=) | |
| 2 | g.47799791A>C | CA346749374 | MSH6 | c.1808A>C (p.Lys603Thr) c.1418A>C (p.Lys473Thr) c.1511A>C (p.Lys504Thr) c.169+8404T>G (p.=) c.*124+8203T>G (p.=) c.*1155A>C (p.=) c.902A>C (p.Lys301Thr) c.1805A>C (p.Lys602Thr) c.-1289A>C (p.=) c.1625A>C (p.Lys542Thr) | |
| 2 | g.47799791A>G | CA346749376 | MSH6 | c.1808A>G (p.Lys603Arg) c.1418A>G (p.Lys473Arg) c.1511A>G (p.Lys504Arg) c.169+8404T>C (p.=) c.*124+8203T>C (p.=) c.*1155A>G (p.=) c.902A>G (p.Lys301Arg) c.1805A>G (p.Lys602Arg) c.-1289A>G (p.=) c.1625A>G (p.Lys542Arg) | |
| 2 | g.47799791A>T | CA346749372 | MSH6 | c.1808A>T (p.Lys603Met) c.1418A>T (p.Lys473Met) c.1511A>T (p.Lys504Met) c.169+8404T>A (p.=) c.*124+8203T>A (p.=) c.*1155A>T (p.=) c.902A>T (p.Lys301Met) c.1805A>T (p.Lys602Met) c.-1289A>T (p.=) c.1625A>T (p.Lys542Met) | |
| 2 | g.47799792G>A | CA10578078 | MSH6 | c.1809G>A (p.Lys603=) c.1419G>A (p.Lys473=) c.1512G>A (p.Lys504=) c.169+8403C>T (p.=) c.*124+8202C>T (p.=) c.*1156G>A (p.=) c.903G>A (p.Lys301=) c.1806G>A (p.Lys602=) c.-1288G>A (p.=) c.1626G>A (p.Lys542=) | ClinVar dbSNP |
| 2 | g.47799792G>C | CA346749377 | MSH6 | c.1809G>C (p.Lys603Asn) c.1419G>C (p.Lys473Asn) c.1512G>C (p.Lys504Asn) c.169+8403C>G (p.=) c.*124+8202C>G (p.=) c.*1156G>C (p.=) c.903G>C (p.Lys301Asn) c.1806G>C (p.Lys602Asn) c.-1288G>C (p.=) c.1626G>C (p.Lys542Asn) | |
| 2 | g.47799792G= | CA2496049003 | MSH6 | c.1809G= (p.Lys603=) c.1419G= (p.Lys473=) c.1512G= (p.Lys504=) c.169+8403C= (p.=) c.*124+8202C= (p.=) c.*1156G= (p.=) c.903G= (p.Lys301=) c.1806G= (p.Lys602=) c.-1288G= (p.=) c.1626G= (p.Lys542=) | |
| 2 | g.47799792G>T | CA346749378 | MSH6 | c.1809G>T (p.Lys603Asn) c.1419G>T (p.Lys473Asn) c.1512G>T (p.Lys504Asn) c.169+8403C>A (p.=) c.*124+8202C>A (p.=) c.*1156G>T (p.=) c.903G>T (p.Lys301Asn) c.1806G>T (p.Lys602Asn) c.-1288G>T (p.=) c.1626G>T (p.Lys542Asn) | COSMIC |
| 2 | g.47799793G>A | CA346749379 | MSH6 | c.1810G>A (p.Glu604Lys) c.1420G>A (p.Glu474Lys) c.1513G>A (p.Glu505Lys) c.169+8402C>T (p.=) c.*124+8201C>T (p.=) c.*1157G>A (p.=) c.904G>A (p.Glu302Lys) c.1807G>A (p.Glu603Lys) c.-1287G>A (p.=) c.1627G>A (p.Glu543Lys) | ClinVar |
| 2 | g.47799793G>C | CA346749380 | MSH6 | c.1810G>C (p.Glu604Gln) c.1420G>C (p.Glu474Gln) c.1513G>C (p.Glu505Gln) c.169+8402C>G (p.=) c.*124+8201C>G (p.=) c.*1157G>C (p.=) c.904G>C (p.Glu302Gln) c.1807G>C (p.Glu603Gln) c.-1287G>C (p.=) c.1627G>C (p.Glu543Gln) | |
| 2 | g.47799793G= | CA2496049004 | MSH6 | c.1810G= (p.Glu604=) c.1420G= (p.Glu474=) c.1513G= (p.Glu505=) c.169+8402C= (p.=) c.*124+8201C= (p.=) c.*1157G= (p.=) c.904G= (p.Glu302=) c.1807G= (p.Glu603=) c.-1287G= (p.=) c.1627G= (p.Glu543=) | |
| 2 | g.47799793G>T | CA346749382 | MSH6 | c.1810G>T (p.Glu604Ter) c.1420G>T (p.Glu474Ter) c.1513G>T (p.Glu505Ter) c.169+8402C>A (p.=) c.*124+8201C>A (p.=) c.*1157G>T (p.=) c.904G>T (p.Glu302Ter) c.1807G>T (p.Glu603Ter) c.-1287G>T (p.=) c.1627G>T (p.Glu543Ter) | |
| 2 | g.47799794A>C | CA346749388 | MSH6 | c.1811A>C (p.Glu604Ala) c.1421A>C (p.Glu474Ala) c.1514A>C (p.Glu505Ala) c.169+8401T>G (p.=) c.*124+8200T>G (p.=) c.*1158A>C (p.=) c.905A>C (p.Glu302Ala) c.1808A>C (p.Glu603Ala) c.-1286A>C (p.=) c.1628A>C (p.Glu543Ala) | |
| 2 | g.47799794A>G | CA346749383 | MSH6 | c.1811A>G (p.Glu604Gly) c.1421A>G (p.Glu474Gly) c.1514A>G (p.Glu505Gly) c.169+8401T>C (p.=) c.*124+8200T>C (p.=) c.*1158A>G (p.=) c.905A>G (p.Glu302Gly) c.1808A>G (p.Glu603Gly) c.-1286A>G (p.=) c.1628A>G (p.Glu543Gly) | COSMIC |
| 2 | g.47799794A>T | CA346749386 | MSH6 | c.1811A>T (p.Glu604Val) c.1421A>T (p.Glu474Val) c.1514A>T (p.Glu505Val) c.169+8401T>A (p.=) c.*124+8200T>A (p.=) c.*1158A>T (p.=) c.905A>T (p.Glu302Val) c.1808A>T (p.Glu603Val) c.-1286A>T (p.=) c.1628A>T (p.Glu543Val) | |
| 2 | g.47799795A>C | CA346749389 | MSH6 | c.1812A>C (p.Glu604Asp) c.1422A>C (p.Glu474Asp) c.1515A>C (p.Glu505Asp) c.169+8400T>G (p.=) c.*124+8199T>G (p.=) c.*1159A>C (p.=) c.906A>C (p.Glu302Asp) c.1809A>C (p.Glu603Asp) c.-1285A>C (p.=) c.1629A>C (p.Glu543Asp) | |
| 2 | g.47799795A>G | CA426121168 | MSH6 | c.1812A>G (p.Glu604=) c.1422A>G (p.Glu474=) c.1515A>G (p.Glu505=) c.169+8400T>C (p.=) c.*124+8199T>C (p.=) c.*1159A>G (p.=) c.906A>G (p.Glu302=) c.1809A>G (p.Glu603=) c.-1285A>G (p.=) c.1629A>G (p.Glu543=) | |
| 2 | g.47799795A>T | CA346749400 | MSH6 | c.1812A>T (p.Glu604Asp) c.1422A>T (p.Glu474Asp) c.1515A>T (p.Glu505Asp) c.169+8400T>A (p.=) c.*124+8199T>A (p.=) c.*1159A>T (p.=) c.906A>T (p.Glu302Asp) c.1809A>T (p.Glu603Asp) c.-1285A>T (p.=) c.1629A>T (p.Glu543Asp) | |
| 2 | g.47799796A= | CA2496049005 | MSH6 | c.1813A= (p.Thr605=) c.1423A= (p.Thr475=) c.1516A= (p.Thr506=) c.169+8399T= (p.=) c.*124+8198T= (p.=) c.*1160A= (p.=) c.907A= (p.Thr303=) c.1810A= (p.Thr604=) c.-1284A= (p.=) c.1630A= (p.Thr544=) | |
| 2 | g.47799796A>C | CA346749403 | MSH6 | c.1813A>C (p.Thr605Pro) c.1423A>C (p.Thr475Pro) c.1516A>C (p.Thr506Pro) c.169+8399T>G (p.=) c.*124+8198T>G (p.=) c.*1160A>C (p.=) c.907A>C (p.Thr303Pro) c.1810A>C (p.Thr604Pro) c.-1284A>C (p.=) c.1630A>C (p.Thr544Pro) | |
| 2 | g.47799796A>G | CA068168 | MSH6 | c.1813A>G (p.Thr605Ala) c.1423A>G (p.Thr475Ala) c.1516A>G (p.Thr506Ala) c.169+8399T>C (p.=) c.*124+8198T>C (p.=) c.*1160A>G (p.=) c.907A>G (p.Thr303Ala) c.1810A>G (p.Thr604Ala) c.-1284A>G (p.=) c.1630A>G (p.Thr544Ala) | dbSNP ExAC gnomAD |
| 2 | g.47799796A>T | CA346749406 | MSH6 | c.1813A>T (p.Thr605Ser) c.1423A>T (p.Thr475Ser) c.1516A>T (p.Thr506Ser) c.169+8399T>A (p.=) c.*124+8198T>A (p.=) c.*1160A>T (p.=) c.907A>T (p.Thr303Ser) c.1810A>T (p.Thr604Ser) c.-1284A>T (p.=) c.1630A>T (p.Thr544Ser) | |
| 2 | g.47799797C>A | CA346749408 | MSH6 | c.1814C>A (p.Thr605Asn) c.1424C>A (p.Thr475Asn) c.1517C>A (p.Thr506Asn) c.169+8398G>T (p.=) c.*124+8197G>T (p.=) c.*1161C>A (p.=) c.908C>A (p.Thr303Asn) c.1811C>A (p.Thr604Asn) c.-1283C>A (p.=) c.1631C>A (p.Thr544Asn) | ClinVar |
| 2 | g.47799797C= | CA2496049007 | MSH6 | c.1814C= (p.Thr605=) c.1424C= (p.Thr475=) c.1517C= (p.Thr506=) c.169+8398G= (p.=) c.*124+8197G= (p.=) c.*1161C= (p.=) c.908C= (p.Thr303=) c.1811C= (p.Thr604=) c.-1283C= (p.=) c.1631C= (p.Thr544=) | |
| 2 | g.47799797C>G | CA009251 | MSH6 | c.1814C>G (p.Thr605Ser) c.1424C>G (p.Thr475Ser) c.1517C>G (p.Thr506Ser) c.169+8398G>C (p.=) c.*124+8197G>C (p.=) c.*1161C>G (p.=) c.908C>G (p.Thr303Ser) c.1811C>G (p.Thr604Ser) c.-1283C>G (p.=) c.1631C>G (p.Thr544Ser) | ClinVar dbSNP ExAC gnomAD |
| 2 | g.47799797C>T | CA346749415 | MSH6 | c.1814C>T (p.Thr605Ile) c.1424C>T (p.Thr475Ile) c.1517C>T (p.Thr506Ile) c.169+8398G>A (p.=) c.*124+8197G>A (p.=) c.*1161C>T (p.=) c.908C>T (p.Thr303Ile) c.1811C>T (p.Thr604Ile) c.-1283C>T (p.=) c.1631C>T (p.Thr544Ile) | |
| 2 | g.47799797_47799799delinsCTA | CA2496049006 | MSH6 | c.1814_1816delinsCTA (p.Thr605=) c.1424_1426delinsCTA (p.Thr475=) c.1517_1519delinsCTA (p.Thr506=) c.169+8396_169+8398delinsTAG (p.=) c.*124+8195_*124+8197delinsTAG (p.=) c.*1161_*1163delinsCTA (p.=) c.908_910delinsCTA (p.Thr303=) c.1811_1813delinsCTA (p.Thr604=) c.-1283_-1281delinsCTA (p.=) c.1631_1633delinsCTA (p.Thr544=) | |
| 2 | g.47799798T>A | CA426121171 | MSH6 | c.1815T>A (p.Thr605=) c.1425T>A (p.Thr475=) c.1518T>A (p.Thr506=) c.169+8397A>T (p.=) c.*124+8196A>T (p.=) c.*1162T>A (p.=) c.909T>A (p.Thr303=) c.1812T>A (p.Thr604=) c.-1282T>A (p.=) c.1632T>A (p.Thr544=) | |
| 2 | g.47799798T>C | CA426121172 | MSH6 | c.1815T>C (p.Thr605=) c.1425T>C (p.Thr475=) c.1518T>C (p.Thr506=) c.169+8397A>G (p.=) c.*124+8196A>G (p.=) c.*1162T>C (p.=) c.909T>C (p.Thr303=) c.1812T>C (p.Thr604=) c.-1282T>C (p.=) c.1632T>C (p.Thr544=) | |
| 2 | g.47799798T>G | CA426121173 | MSH6 | c.1815T>G (p.Thr605=) c.1425T>G (p.Thr475=) c.1518T>G (p.Thr506=) c.169+8397A>C (p.=) c.*124+8196A>C (p.=) c.*1162T>G (p.=) c.909T>G (p.Thr303=) c.1812T>G (p.Thr604=) c.-1282T>G (p.=) c.1632T>G (p.Thr544=) | |
| 2 | g.47799798_47799799del | CA16610988 | MSH6 | c.1815_1816del (p.Lys606AsnfsTer?) c.1425_1426del (p.Lys476AsnfsTer?) c.1518_1519del (p.Lys507AsnfsTer?) c.169+8396_169+8397del (p.=) c.*124+8195_*124+8196del (p.=) c.*1162_*1163del (p.=) c.909_910del (p.Lys304AsnfsTer?) c.1812_1813del (p.Lys605AsnfsTer?) c.-1282_-1281del (p.=) c.1632_1633del (p.Lys545AsnfsTer?) | ClinVar dbSNP |
| 2 | g.47799798_47799799delinsTA | CA2496049008 | MSH6 | c.1815_1816delinsTA (p.Thr605=) c.1425_1426delinsTA (p.Thr475=) c.1518_1519delinsTA (p.Thr506=) c.169+8396_169+8397delinsTA (p.=) c.*124+8195_*124+8196delinsTA (p.=) c.*1162_*1163delinsTA (p.=) c.909_910delinsTA (p.Thr303=) c.1812_1813delinsTA (p.Thr604=) c.-1282_-1281delinsTA (p.=) c.1632_1633delinsTA (p.Thr544=) | |
| 2 | g.47799799A= | CA2496049010 | MSH6 | c.1816A= (p.Lys606=) c.1426A= (p.Lys476=) c.1519A= (p.Lys507=) c.169+8396T= (p.=) c.*124+8195T= (p.=) c.*1163A= (p.=) c.910A= (p.Lys304=) c.1813A= (p.Lys605=) c.-1281A= (p.=) c.1633A= (p.Lys545=) | |
| 2 | g.47799799A>C | CA346749419 | MSH6 | c.1816A>C (p.Lys606Gln) c.1426A>C (p.Lys476Gln) c.1519A>C (p.Lys507Gln) c.169+8396T>G (p.=) c.*124+8195T>G (p.=) c.*1163A>C (p.=) c.910A>C (p.Lys304Gln) c.1813A>C (p.Lys605Gln) c.-1281A>C (p.=) c.1633A>C (p.Lys545Gln) | |
| 2 | g.47799799A>G | CA346749421 | MSH6 | c.1816A>G (p.Lys606Glu) c.1426A>G (p.Lys476Glu) c.1519A>G (p.Lys507Glu) c.169+8396T>C (p.=) c.*124+8195T>C (p.=) c.*1163A>G (p.=) c.910A>G (p.Lys304Glu) c.1813A>G (p.Lys605Glu) c.-1281A>G (p.=) c.1633A>G (p.Lys545Glu) | ClinVar gnomAD |
| 2 | g.47799799A>T | CA346749423 | MSH6 | c.1816A>T (p.Lys606Ter) c.1426A>T (p.Lys476Ter) c.1519A>T (p.Lys507Ter) c.169+8396T>A (p.=) c.*124+8195T>A (p.=) c.*1163A>T (p.=) c.910A>T (p.Lys304Ter) c.1813A>T (p.Lys605Ter) c.-1281A>T (p.=) c.1633A>T (p.Lys545Ter) | |
| 2 | g.47799802dup | CA330389 | MSH6 | c.1819dup (p.Thr607AsnfsTer?) c.1429dup (p.Thr477AsnfsTer?) c.1522dup (p.Thr508AsnfsTer?) c.169+8396dup (p.=) c.*124+8195dup (p.=) c.*1166dup (p.=) c.913dup (p.Thr305AsnfsTer?) c.1816dup (p.Thr606AsnfsTer?) c.-1278dup (p.=) c.1636dup (p.Thr546AsnfsTer?) | ClinVar dbSNP |