| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.113064002_113064042delinsGAAAGGCTCTCCCAGGGCTGCACGCTGCAGCCGGCCACGGC | CA1573632491 | MCC | c.1585_1625delinsGCCGTGGCCGGCTGCAGCGTGCAGCCCTGGGAGAGCCTTTC (p.Ala529=) c.2155_2195delinsGCCGTGGCCGGCTGCAGCGTGCAGCCCTGGGAGAGCCTTTC (p.Ala719=) c.1396_1436delinsGCCGTGGCCGGCTGCAGCGTGCAGCCCTGGGAGAGCCTTTC (p.Ala466=) c.1555_1595delinsGCCGTGGCCGGCTGCAGCGTGCAGCCCTGGGAGAGCCTTTC (p.Ala519=) | |
| 5 | g.113064011_113064050del | CA3369999 | MCC | c.1585_1624del (p.Ala529ProfsTer28) c.2155_2194del (p.Ala719ProfsTer28) c.1396_1435del (p.Ala466ProfsTer28) c.1555_1594del (p.Ala519ProfsTer28) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.113064010C>A | CA360626062 | MCC | c.1617G>T (p.Glu539Asp) c.2187G>T (p.Glu729Asp) c.1428G>T (p.Glu476Asp) c.31G>T c.1587G>T (p.Glu529Asp) | |
| 5 | g.113064010C>G | CA360626063 | MCC | c.1617G>C (p.Glu539Asp) c.2187G>C (p.Glu729Asp) c.1428G>C (p.Glu476Asp) c.31G>C c.1587G>C (p.Glu529Asp) | |
| 5 | g.113064010C>T | CA445979276 | MCC | c.1617G>A (p.Glu539=) c.2187G>A (p.Glu729=) c.1428G>A (p.Glu476=) c.31G>A c.1587G>A (p.Glu529=) | gnomAD v4 |
| 5 | g.113064011T>A | CA360626064 | MCC | c.1616A>T (p.Glu539Val) c.2186A>T (p.Glu729Val) c.1427A>T (p.Glu476Val) c.30A>T c.1586A>T (p.Glu529Val) | |
| 5 | g.113064011T>C | CA360626065 | MCC | c.1616A>G (p.Glu539Gly) c.2186A>G (p.Glu729Gly) c.1427A>G (p.Glu476Gly) c.30A>G c.1586A>G (p.Glu529Gly) | |
| 5 | g.113064011T>G | CA360626066 | MCC | c.1616A>C (p.Glu539Ala) c.2186A>C (p.Glu729Ala) c.1427A>C (p.Glu476Ala) c.30A>C c.1586A>C (p.Glu529Ala) | |
| 5 | g.113064012C>A | CA360626067 | MCC | c.1615G>T (p.Glu539Ter) c.2185G>T (p.Glu729Ter) c.1426G>T (p.Glu476Ter) c.29G>T c.1585G>T (p.Glu529Ter) | |
| 5 | g.113064012C>G | CA360626068 | MCC | c.1615G>C (p.Glu539Gln) c.2185G>C (p.Glu729Gln) c.1426G>C (p.Glu476Gln) c.29G>C c.1585G>C (p.Glu529Gln) | |
| 5 | g.113064012C>T | CA360626069 | MCC | c.1615G>A (p.Glu539Lys) c.2185G>A (p.Glu729Lys) c.1426G>A (p.Glu476Lys) c.29G>A c.1585G>A (p.Glu529Lys) | gnomAD v4 |
| 5 | g.113064013C>A | CA360626070 | MCC | c.1614G>T (p.Trp538Cys) c.2184G>T (p.Trp728Cys) c.1425G>T (p.Trp475Cys) c.28G>T c.1584G>T (p.Trp528Cys) | |
| 5 | g.113064013C= | CA1573632494 | MCC | c.1614G= (p.Trp538=) c.2184G= (p.Trp728=) c.1425G= (p.Trp475=) c.28G= c.1584G= (p.Trp528=) | |
| 5 | g.113064013C>G | CA3370000 | MCC | c.1614G>C (p.Trp538Cys) c.2184G>C (p.Trp728Cys) c.1425G>C (p.Trp475Cys) c.28G>C c.1584G>C (p.Trp528Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.113064013C>T | CA360626071 | MCC | c.1614G>A (p.Trp538Ter) c.2184G>A (p.Trp728Ter) c.1425G>A (p.Trp475Ter) c.28G>A c.1584G>A (p.Trp528Ter) | dbSNP |
| 5 | g.113064014C>A | CA360626074 | MCC | c.1613G>T (p.Trp538Leu) c.2183G>T (p.Trp728Leu) c.1424G>T (p.Trp475Leu) c.27G>T c.1583G>T (p.Trp528Leu) | |
| 5 | g.113064014C>G | CA360626072 | MCC | c.1613G>C (p.Trp538Ser) c.2183G>C (p.Trp728Ser) c.1424G>C (p.Trp475Ser) c.27G>C c.1583G>C (p.Trp528Ser) | |
| 5 | g.113064014C>T | CA360626073 | MCC | c.1613G>A (p.Trp538Ter) c.2183G>A (p.Trp728Ter) c.1424G>A (p.Trp475Ter) c.27G>A c.1583G>A (p.Trp528Ter) | |
| 5 | g.113064015A= | CA1573632495 | MCC | c.1612T= (p.Trp538=) c.2182T= (p.Trp728=) c.1423T= (p.Trp475=) c.26T= c.1582T= (p.Trp528=) | |
| 5 | g.113064015A>C | CA360626075 | MCC | c.1612T>G (p.Trp538Gly) c.2182T>G (p.Trp728Gly) c.1423T>G (p.Trp475Gly) c.26T>G c.1582T>G (p.Trp528Gly) | |
| 5 | g.113064015A>G | CA360626076 | MCC | c.1612T>C (p.Trp538Arg) c.2182T>C (p.Trp728Arg) c.1423T>C (p.Trp475Arg) c.26T>C c.1582T>C (p.Trp528Arg) | dbSNP |
| 5 | g.113064015A>T | CA360626077 | MCC | c.1612T>A (p.Trp538Arg) c.2182T>A (p.Trp728Arg) c.1423T>A (p.Trp475Arg) c.26T>A c.1582T>A (p.Trp528Arg) | |
| 5 | g.113064016G>A | CA3370001 | MCC | c.1611C>T (p.Pro537=) c.2181C>T (p.Pro727=) c.1422C>T (p.Pro474=) c.25C>T c.1581C>T (p.Pro527=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.113064016G>C | CA445979278 | MCC | c.1611C>G (p.Pro537=) c.2181C>G (p.Pro727=) c.1422C>G (p.Pro474=) c.25C>G c.1581C>G (p.Pro527=) | |
| 5 | g.113064016G= | CA1573632496 | MCC | c.1611C= (p.Pro537=) c.2181C= (p.Pro727=) c.1422C= (p.Pro474=) c.25C= c.1581C= (p.Pro527=) | |
| 5 | g.113064016G>T | CA445979279 | MCC | c.1611C>A (p.Pro537=) c.2181C>A (p.Pro727=) c.1422C>A (p.Pro474=) c.25C>A c.1581C>A (p.Pro527=) | |
| 5 | g.113064017G>A | CA3370002 | MCC | c.1610C>T (p.Pro537Leu) c.2180C>T (p.Pro727Leu) c.1421C>T (p.Pro474Leu) c.24C>T c.1580C>T (p.Pro527Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.113064017G>C | CA360626078 | MCC | c.1610C>G (p.Pro537Arg) c.2180C>G (p.Pro727Arg) c.1421C>G (p.Pro474Arg) c.24C>G c.1580C>G (p.Pro527Arg) | |
| 5 | g.113064017G= | CA1573632497 | MCC | c.1610C= (p.Pro537=) c.2180C= (p.Pro727=) c.1421C= (p.Pro474=) c.24C= c.1580C= (p.Pro527=) | |
| 5 | g.113064017G>T | CA360626079 | MCC | c.1610C>A (p.Pro537His) c.2180C>A (p.Pro727His) c.1421C>A (p.Pro474His) c.24C>A c.1580C>A (p.Pro527His) | |
| 5 | g.113064018G>A | CA360626080 | MCC | c.1609C>T (p.Pro537Ser) c.2179C>T (p.Pro727Ser) c.1420C>T (p.Pro474Ser) c.23C>T c.1579C>T (p.Pro527Ser) | |
| 5 | g.113064018G>C | CA360626081 | MCC | c.1609C>G (p.Pro537Ala) c.2179C>G (p.Pro727Ala) c.1420C>G (p.Pro474Ala) c.23C>G c.1579C>G (p.Pro527Ala) | |
| 5 | g.113064018G>T | CA360626082 | MCC | c.1609C>A (p.Pro537Thr) c.2179C>A (p.Pro727Thr) c.1420C>A (p.Pro474Thr) c.23C>A c.1579C>A (p.Pro527Thr) | |
| 5 | g.113064019C>A | CA3370003 | MCC | c.1608G>T (p.Gln536His) c.2178G>T (p.Gln726His) c.1419G>T (p.Gln473His) c.22G>T c.1578G>T (p.Gln526His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.113064019C= | CA1573632498 | MCC | c.1608G= (p.Gln536=) c.2178G= (p.Gln726=) c.1419G= (p.Gln473=) c.22G= c.1578G= (p.Gln526=) | |
| 5 | g.113064019C>G | CA360626083 | MCC | c.1608G>C (p.Gln536His) c.2178G>C (p.Gln726His) c.1419G>C (p.Gln473His) c.22G>C c.1578G>C (p.Gln526His) | |
| 5 | g.113064019C>T | CA445979281 | MCC | c.1608G>A (p.Gln536=) c.2178G>A (p.Gln726=) c.1419G>A (p.Gln473=) c.22G>A c.1578G>A (p.Gln526=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.113064020T>A | CA360626085 | MCC | c.1607A>T (p.Gln536Leu) c.2177A>T (p.Gln726Leu) c.1418A>T (p.Gln473Leu) c.21A>T c.1577A>T (p.Gln526Leu) | |
| 5 | g.113064020T>C | CA360626086 | MCC | c.1607A>G (p.Gln536Arg) c.2177A>G (p.Gln726Arg) c.1418A>G (p.Gln473Arg) c.21A>G c.1577A>G (p.Gln526Arg) | gnomAD v4 |
| 5 | g.113064020T>G | CA360626084 | MCC | c.1607A>C (p.Gln536Pro) c.2177A>C (p.Gln726Pro) c.1418A>C (p.Gln473Pro) c.21A>C c.1577A>C (p.Gln526Pro) | gnomAD v4 |
| 5 | g.113064021G>A | CA360626087 | MCC | c.1606C>T (p.Gln536Ter) c.2176C>T (p.Gln726Ter) c.1417C>T (p.Gln473Ter) c.20C>T c.1576C>T (p.Gln526Ter) | |
| 5 | g.113064021G>C | CA360626088 | MCC | c.1606C>G (p.Gln536Glu) c.2176C>G (p.Gln726Glu) c.1417C>G (p.Gln473Glu) c.20C>G c.1576C>G (p.Gln526Glu) | |
| 5 | g.113064021G>T | CA360626089 | MCC | c.1606C>A (p.Gln536Lys) c.2176C>A (p.Gln726Lys) c.1417C>A (p.Gln473Lys) c.20C>A c.1576C>A (p.Gln526Lys) | |
| 5 | g.113064022C>A | CA445979285 | MCC | c.1605G>T (p.Val535=) c.2175G>T (p.Val725=) c.1416G>T (p.Val472=) c.19G>T c.1575G>T (p.Val525=) | |
| 5 | g.113064022C>G | CA445979284 | MCC | c.1605G>C (p.Val535=) c.2175G>C (p.Val725=) c.1416G>C (p.Val472=) c.19G>C c.1575G>C (p.Val525=) | |
| 5 | g.113064022C>T | CA445979283 | MCC | c.1605G>A (p.Val535=) c.2175G>A (p.Val725=) c.1416G>A (p.Val472=) c.19G>A c.1575G>A (p.Val525=) | |
| 5 | g.113064023A= | CA1573632499 | MCC | c.1604T= (p.Val535=) c.2174T= (p.Val725=) c.1415T= (p.Val472=) c.18T= c.1574T= (p.Val525=) | |
| 5 | g.113064023A>C | CA360626090 | MCC | c.1604T>G (p.Val535Gly) c.2174T>G (p.Val725Gly) c.1415T>G (p.Val472Gly) c.18T>G c.1574T>G (p.Val525Gly) | |
| 5 | g.113064023A>G | CA360626091 | MCC | c.1604T>C (p.Val535Ala) c.2174T>C (p.Val725Ala) c.1415T>C (p.Val472Ala) c.18T>C c.1574T>C (p.Val525Ala) | |
| 5 | g.113064023A>T | CA124994547 | MCC | c.1604T>A (p.Val535Glu) c.2174T>A (p.Val725Glu) c.1415T>A (p.Val472Glu) c.18T>A c.1574T>A (p.Val525Glu) | dbSNP gnomAD v4 |