Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.230177545A= | CA1334207160 | SP110 | c.974T= (p.Leu325=) c.1583T= (p.Leu528=) c.1433T= (p.Leu478=) n.305T= n.2399T= c.1601T= (p.Leu534=) c.1577T= (p.Leu526=) n.237T= c.1451T= (p.Leu484=) | |
2 | g.230177545A>C | CA350903098 | SP110 | c.974T>G (p.Leu325Arg) c.1583T>G (p.Leu528Arg) c.1433T>G (p.Leu478Arg) n.305T>G n.2399T>G c.1601T>G (p.Leu534Arg) c.1577T>G (p.Leu526Arg) n.237T>G c.1451T>G (p.Leu484Arg) | |
2 | g.230177545A>G | CA66735068 | SP110 | c.974T>C (p.Leu325Pro) c.1583T>C (p.Leu528Pro) c.1433T>C (p.Leu478Pro) n.305T>C n.2399T>C c.1601T>C (p.Leu534Pro) c.1577T>C (p.Leu526Pro) n.237T>C c.1451T>C (p.Leu484Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.230177545A>T | CA350903099 | SP110 | c.974T>A (p.Leu325Gln) c.1583T>A (p.Leu528Gln) c.1433T>A (p.Leu478Gln) n.305T>A n.2399T>A c.1601T>A (p.Leu534Gln) c.1577T>A (p.Leu526Gln) n.237T>A c.1451T>A (p.Leu484Gln) | |
2 | g.230177546G>A | CA431539775 | SP110 | c.973C>T (p.Leu325=) c.1582C>T (p.Leu528=) c.1432C>T (p.Leu478=) n.304C>T n.2398C>T c.1600C>T (p.Leu534=) c.1576C>T (p.Leu526=) n.236C>T c.1450C>T (p.Leu484=) | gnomAD v4 |
2 | g.230177546G>C | CA350903100 | SP110 | c.973C>G (p.Leu325Val) c.1582C>G (p.Leu528Val) c.1432C>G (p.Leu478Val) n.304C>G n.2398C>G c.1600C>G (p.Leu534Val) c.1576C>G (p.Leu526Val) n.236C>G c.1450C>G (p.Leu484Val) | |
2 | g.230177546G>T | CA350903101 | SP110 | c.973C>A (p.Leu325Met) c.1582C>A (p.Leu528Met) c.1432C>A (p.Leu478Met) n.304C>A n.2398C>A c.1600C>A (p.Leu534Met) c.1576C>A (p.Leu526Met) n.236C>A c.1450C>A (p.Leu484Met) | |
2 | g.230177547C>A | CA350903103 | SP110 | c.972G>T (p.Glu324Asp) c.1581G>T (p.Glu527Asp) c.1431G>T (p.Glu477Asp) n.303G>T n.2397G>T c.1599G>T (p.Glu533Asp) c.1575G>T (p.Glu525Asp) n.235G>T c.1449G>T (p.Glu483Asp) | gnomAD v4 |
2 | g.230177547C>G | CA350903102 | SP110 | c.972G>C (p.Glu324Asp) c.1581G>C (p.Glu527Asp) c.1431G>C (p.Glu477Asp) n.303G>C n.2397G>C c.1599G>C (p.Glu533Asp) c.1575G>C (p.Glu525Asp) n.235G>C c.1449G>C (p.Glu483Asp) | |
2 | g.230177547C>T | CA431539779 | SP110 | c.972G>A (p.Glu324=) c.1581G>A (p.Glu527=) c.1431G>A (p.Glu477=) n.303G>A n.2397G>A c.1599G>A (p.Glu533=) c.1575G>A (p.Glu525=) n.235G>A c.1449G>A (p.Glu483=) | |
2 | g.230177548T>A | CA350903104 | SP110 | c.971A>T (p.Glu324Val) c.1580A>T (p.Glu527Val) c.1430A>T (p.Glu477Val) n.302A>T n.2396A>T c.1598A>T (p.Glu533Val) c.1574A>T (p.Glu525Val) n.234A>T c.1448A>T (p.Glu483Val) | |
2 | g.230177548T>C | CA350903105 | SP110 | c.971A>G (p.Glu324Gly) c.1580A>G (p.Glu527Gly) c.1430A>G (p.Glu477Gly) n.302A>G n.2396A>G c.1598A>G (p.Glu533Gly) c.1574A>G (p.Glu525Gly) n.234A>G c.1448A>G (p.Glu483Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.230177548T>G | CA350903106 | SP110 | c.971A>C (p.Glu324Ala) c.1580A>C (p.Glu527Ala) c.1430A>C (p.Glu477Ala) n.302A>C n.2396A>C c.1598A>C (p.Glu533Ala) c.1574A>C (p.Glu525Ala) n.234A>C c.1448A>C (p.Glu483Ala) | |
2 | g.230177548T= | CA1334207161 | SP110 | c.971A= (p.Glu324=) c.1580A= (p.Glu527=) c.1430A= (p.Glu477=) n.302A= n.2396A= c.1598A= (p.Glu533=) c.1574A= (p.Glu525=) n.234A= c.1448A= (p.Glu483=) | |
2 | g.230177549C>A | CA350903107 | SP110 | c.970G>T (p.Glu324Ter) c.1579G>T (p.Glu527Ter) c.1429G>T (p.Glu477Ter) n.301G>T n.2395G>T c.1597G>T (p.Glu533Ter) c.1573G>T (p.Glu525Ter) n.233G>T c.1447G>T (p.Glu483Ter) | dbSNP |
2 | g.230177549C= | CA1334207162 | SP110 | c.970G= (p.Glu324=) c.1579G= (p.Glu527=) c.1429G= (p.Glu477=) n.301G= n.2395G= c.1597G= (p.Glu533=) c.1573G= (p.Glu525=) n.233G= c.1447G= (p.Glu483=) | |
2 | g.230177549C>G | CA66735070 | SP110 | c.970G>C (p.Glu324Gln) c.1579G>C (p.Glu527Gln) c.1429G>C (p.Glu477Gln) n.301G>C n.2395G>C c.1597G>C (p.Glu533Gln) c.1573G>C (p.Glu525Gln) n.233G>C c.1447G>C (p.Glu483Gln) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.230177549C>T | CA2154461 | SP110 | c.970G>A (p.Glu324Lys) c.1579G>A (p.Glu527Lys) c.1429G>A (p.Glu477Lys) n.301G>A n.2395G>A c.1597G>A (p.Glu533Lys) c.1573G>A (p.Glu525Lys) n.233G>A c.1447G>A (p.Glu483Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.230177550T>A | CA431539780 | SP110 | c.969A>T (p.Gly323=) c.1578A>T (p.Gly526=) c.1428A>T (p.Gly476=) n.300A>T n.2394A>T c.1596A>T (p.Gly532=) c.1572A>T (p.Gly524=) n.232A>T c.1446A>T (p.Gly482=) | |
2 | g.230177550T>C | CA431539781 | SP110 | c.969A>G (p.Gly323=) c.1578A>G (p.Gly526=) c.1428A>G (p.Gly476=) n.300A>G n.2394A>G c.1596A>G (p.Gly532=) c.1572A>G (p.Gly524=) n.232A>G c.1446A>G (p.Gly482=) | |
2 | g.230177550T>G | CA431539782 | SP110 | c.969A>C (p.Gly323=) c.1578A>C (p.Gly526=) c.1428A>C (p.Gly476=) n.300A>C n.2394A>C c.1596A>C (p.Gly532=) c.1572A>C (p.Gly524=) n.232A>C c.1446A>C (p.Gly482=) | |
2 | g.230177551C>A | CA350903108 | SP110 | c.968G>T (p.Gly323Val) c.1577G>T (p.Gly526Val) c.1427G>T (p.Gly476Val) n.299G>T n.2393G>T c.1595G>T (p.Gly532Val) c.1571G>T (p.Gly524Val) n.231G>T c.1445G>T (p.Gly482Val) | |
2 | g.230177551C>G | CA350903109 | SP110 | c.968G>C (p.Gly323Ala) c.1577G>C (p.Gly526Ala) c.1427G>C (p.Gly476Ala) n.299G>C n.2393G>C c.1595G>C (p.Gly532Ala) c.1571G>C (p.Gly524Ala) n.231G>C c.1445G>C (p.Gly482Ala) | |
2 | g.230177551C>T | CA350903110 | SP110 | c.968G>A (p.Gly323Glu) c.1577G>A (p.Gly526Glu) c.1427G>A (p.Gly476Glu) n.299G>A n.2393G>A c.1595G>A (p.Gly532Glu) c.1571G>A (p.Gly524Glu) n.231G>A c.1445G>A (p.Gly482Glu) | |
2 | g.230177552C>A | CA350903111 | SP110 | c.967G>T (p.Gly323Ter) c.1576G>T (p.Gly526Ter) c.1426G>T (p.Gly476Ter) n.298G>T n.2392G>T c.1594G>T (p.Gly532Ter) c.1570G>T (p.Gly524Ter) n.230G>T c.1444G>T (p.Gly482Ter) | |
2 | g.230177552C>G | CA350903112 | SP110 | c.967G>C (p.Gly323Arg) c.1576G>C (p.Gly526Arg) c.1426G>C (p.Gly476Arg) n.298G>C n.2392G>C c.1594G>C (p.Gly532Arg) c.1570G>C (p.Gly524Arg) n.230G>C c.1444G>C (p.Gly482Arg) | |
2 | g.230177552C>T | CA350903113 | SP110 | c.967G>A (p.Gly323Arg) c.1576G>A (p.Gly526Arg) c.1426G>A (p.Gly476Arg) n.298G>A n.2392G>A c.1594G>A (p.Gly532Arg) c.1570G>A (p.Gly524Arg) n.230G>A c.1444G>A (p.Gly482Arg) | |
2 | g.230177553T>A | CA431539783 | SP110 | c.966A>T (p.Leu322=) c.1575A>T (p.Leu525=) c.1425A>T (p.Leu475=) n.297A>T n.2391A>T c.1593A>T (p.Leu531=) c.1569A>T (p.Leu523=) n.229A>T c.1443A>T (p.Leu481=) | dbSNP |
2 | g.230177553T>C | CA431539784 | SP110 | c.966A>G (p.Leu322=) c.1575A>G (p.Leu525=) c.1425A>G (p.Leu475=) n.297A>G n.2391A>G c.1593A>G (p.Leu531=) c.1569A>G (p.Leu523=) n.229A>G c.1443A>G (p.Leu481=) | |
2 | g.230177553T>G | CA431539785 | SP110 | c.966A>C (p.Leu322=) c.1575A>C (p.Leu525=) c.1425A>C (p.Leu475=) n.297A>C n.2391A>C c.1593A>C (p.Leu531=) c.1569A>C (p.Leu523=) n.229A>C c.1443A>C (p.Leu481=) | |
2 | g.230177553T= | CA1334207163 | SP110 | c.966A= (p.Leu322=) c.1575A= (p.Leu525=) c.1425A= (p.Leu475=) n.297A= n.2391A= c.1593A= (p.Leu531=) c.1569A= (p.Leu523=) n.229A= c.1443A= (p.Leu481=) | |
2 | g.230177554A>C | CA350903114 | SP110 | c.965T>G (p.Leu322Arg) c.1574T>G (p.Leu525Arg) c.1424T>G (p.Leu475Arg) n.296T>G n.2390T>G c.1592T>G (p.Leu531Arg) c.1568T>G (p.Leu523Arg) n.228T>G c.1442T>G (p.Leu481Arg) | |
2 | g.230177554A>G | CA350903116 | SP110 | c.965T>C (p.Leu322Pro) c.1574T>C (p.Leu525Pro) c.1424T>C (p.Leu475Pro) n.296T>C n.2390T>C c.1592T>C (p.Leu531Pro) c.1568T>C (p.Leu523Pro) n.228T>C c.1442T>C (p.Leu481Pro) | gnomAD v4 |
2 | g.230177554A>T | CA350903115 | SP110 | c.965T>A (p.Leu322Gln) c.1574T>A (p.Leu525Gln) c.1424T>A (p.Leu475Gln) n.296T>A n.2390T>A c.1592T>A (p.Leu531Gln) c.1568T>A (p.Leu523Gln) n.228T>A c.1442T>A (p.Leu481Gln) | |
2 | g.230177555G>A | CA431539790 | SP110 | c.964C>T (p.Leu322=) c.1573C>T (p.Leu525=) c.1423C>T (p.Leu475=) n.295C>T n.2389C>T c.1591C>T (p.Leu531=) c.1567C>T (p.Leu523=) n.227C>T c.1441C>T (p.Leu481=) | |
2 | g.230177555G>C | CA350903117 | SP110 | c.964C>G (p.Leu322Val) c.1573C>G (p.Leu525Val) c.1423C>G (p.Leu475Val) n.295C>G n.2389C>G c.1591C>G (p.Leu531Val) c.1567C>G (p.Leu523Val) n.227C>G c.1441C>G (p.Leu481Val) | |
2 | g.230177555G>T | CA350903118 | SP110 | c.964C>A (p.Leu322Ile) c.1573C>A (p.Leu525Ile) c.1423C>A (p.Leu475Ile) n.295C>A n.2389C>A c.1591C>A (p.Leu531Ile) c.1567C>A (p.Leu523Ile) n.227C>A c.1441C>A (p.Leu481Ile) | |
2 | g.230177556G>A | CA431539791 | SP110 | c.963C>T (p.Thr321=) c.1572C>T (p.Thr524=) c.1422C>T (p.Thr474=) n.294C>T n.2388C>T c.1590C>T (p.Thr530=) c.1566C>T (p.Thr522=) n.226C>T c.1440C>T (p.Thr480=) | |
2 | g.230177556G>C | CA431539792 | SP110 | c.963C>G (p.Thr321=) c.1572C>G (p.Thr524=) c.1422C>G (p.Thr474=) n.294C>G n.2388C>G c.1590C>G (p.Thr530=) c.1566C>G (p.Thr522=) n.226C>G c.1440C>G (p.Thr480=) | |
2 | g.230177556G>T | CA431539793 | SP110 | c.963C>A (p.Thr321=) c.1572C>A (p.Thr524=) c.1422C>A (p.Thr474=) n.294C>A n.2388C>A c.1590C>A (p.Thr530=) c.1566C>A (p.Thr522=) n.226C>A c.1440C>A (p.Thr480=) | |
2 | g.230177556_230177557delinsAA | CA645517744 | SP110 | c.962_963delinsTT (p.Thr321Ile) c.1571_1572delinsTT (p.Thr524Ile) c.1421_1422delinsTT (p.Thr474Ile) n.293_294delinsTT n.2387_2388delinsTT c.1589_1590delinsTT (p.Thr530Ile) c.1565_1566delinsTT (p.Thr522Ile) n.225_226delinsTT c.1439_1440delinsTT (p.Thr480Ile) | COSMIC COSMIC |
2 | g.230177557G>A | CA350903119 | SP110 | c.962C>T (p.Thr321Ile) c.1571C>T (p.Thr524Ile) c.1421C>T (p.Thr474Ile) n.293C>T n.2387C>T c.1589C>T (p.Thr530Ile) c.1565C>T (p.Thr522Ile) n.225C>T c.1439C>T (p.Thr480Ile) | |
2 | g.230177557G>C | CA350903120 | SP110 | c.962C>G (p.Thr321Ser) c.1571C>G (p.Thr524Ser) c.1421C>G (p.Thr474Ser) n.293C>G n.2387C>G c.1589C>G (p.Thr530Ser) c.1565C>G (p.Thr522Ser) n.225C>G c.1439C>G (p.Thr480Ser) | |
2 | g.230177557G= | CA1334207164 | SP110 | c.962C= (p.Thr321=) c.1571C= (p.Thr524=) c.1421C= (p.Thr474=) n.293C= n.2387C= c.1589C= (p.Thr530=) c.1565C= (p.Thr522=) n.225C= c.1439C= (p.Thr480=) | |
2 | g.230177557G>T | CA2154462 | SP110 | c.962C>A (p.Thr321Asn) c.1571C>A (p.Thr524Asn) c.1421C>A (p.Thr474Asn) n.293C>A n.2387C>A c.1589C>A (p.Thr530Asn) c.1565C>A (p.Thr522Asn) n.225C>A c.1439C>A (p.Thr480Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.230177558T>A | CA350903121 | SP110 | c.961A>T (p.Thr321Ser) c.1570A>T (p.Thr524Ser) c.1420A>T (p.Thr474Ser) n.292A>T n.2386A>T c.1588A>T (p.Thr530Ser) c.1564A>T (p.Thr522Ser) n.224A>T c.1438A>T (p.Thr480Ser) | |
2 | g.230177558T>C | CA350903122 | SP110 | c.961A>G (p.Thr321Ala) c.1570A>G (p.Thr524Ala) c.1420A>G (p.Thr474Ala) n.292A>G n.2386A>G c.1588A>G (p.Thr530Ala) c.1564A>G (p.Thr522Ala) n.224A>G c.1438A>G (p.Thr480Ala) | |
2 | g.230177558T>G | CA350903123 | SP110 | c.961A>C (p.Thr321Pro) c.1570A>C (p.Thr524Pro) c.1420A>C (p.Thr474Pro) n.292A>C n.2386A>C c.1588A>C (p.Thr530Pro) c.1564A>C (p.Thr522Pro) n.224A>C c.1438A>C (p.Thr480Pro) | gnomAD v4 |
2 | g.230177559C>A | CA350903124 | SP110 | c.960G>T (p.Met320Ile) c.1569G>T (p.Met523Ile) c.1419G>T (p.Met473Ile) n.291G>T n.2385G>T c.1587G>T (p.Met529Ile) c.1563G>T (p.Met521Ile) n.223G>T c.1437G>T (p.Met479Ile) | |
2 | g.230177559C= | CA1334207165 | SP110 | c.960G= (p.Met320=) c.1569G= (p.Met523=) c.1419G= (p.Met473=) n.291G= n.2385G= c.1587G= (p.Met529=) c.1563G= (p.Met521=) n.223G= c.1437G= (p.Met479=) | |
2 | g.230177559C>G | CA350903125 | SP110 | c.960G>C (p.Met320Ile) c.1569G>C (p.Met523Ile) c.1419G>C (p.Met473Ile) n.291G>C n.2385G>C c.1587G>C (p.Met529Ile) c.1563G>C (p.Met521Ile) n.223G>C c.1437G>C (p.Met479Ile) | |
2 | g.230177559C>T | CA66735080 | SP110 | c.960G>A (p.Met320Ile) c.1569G>A (p.Met523Ile) c.1419G>A (p.Met473Ile) n.291G>A n.2385G>A c.1587G>A (p.Met529Ile) c.1563G>A (p.Met521Ile) n.223G>A c.1437G>A (p.Met479Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.230177560A= | CA1334207166 | SP110 | c.959T= (p.Met320=) c.1568T= (p.Met523=) c.1418T= (p.Met473=) n.290T= n.2384T= c.1586T= (p.Met529=) c.1562T= (p.Met521=) n.222T= c.1436T= (p.Met479=) | |
2 | g.230177560A>C | CA350903126 | SP110 | c.959T>G (p.Met320Arg) c.1568T>G (p.Met523Arg) c.1418T>G (p.Met473Arg) n.290T>G n.2384T>G c.1586T>G (p.Met529Arg) c.1562T>G (p.Met521Arg) n.222T>G c.1436T>G (p.Met479Arg) | |
2 | g.230177560A>G | CA2154463 | SP110 | c.959T>C (p.Met320Thr) c.1568T>C (p.Met523Thr) c.1418T>C (p.Met473Thr) n.290T>C n.2384T>C c.1586T>C (p.Met529Thr) c.1562T>C (p.Met521Thr) n.222T>C c.1436T>C (p.Met479Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.230177560A>T | CA350903127 | SP110 | c.959T>A (p.Met320Lys) c.1568T>A (p.Met523Lys) c.1418T>A (p.Met473Lys) n.290T>A n.2384T>A c.1586T>A (p.Met529Lys) c.1562T>A (p.Met521Lys) n.222T>A c.1436T>A (p.Met479Lys) | |
2 | g.230177561T>A | CA350903128 | SP110 | c.958A>T (p.Met320Leu) c.1567A>T (p.Met523Leu) c.1417A>T (p.Met473Leu) n.289A>T n.2383A>T c.1585A>T (p.Met529Leu) c.1561A>T (p.Met521Leu) n.221A>T c.1435A>T (p.Met479Leu) | |
2 | g.230177561T>C | CA350903129 | SP110 | c.958A>G (p.Met320Val) c.1567A>G (p.Met523Val) c.1417A>G (p.Met473Val) n.289A>G n.2383A>G c.1585A>G (p.Met529Val) c.1561A>G (p.Met521Val) n.221A>G c.1435A>G (p.Met479Val) | |
2 | g.230177561T>G | CA350903130 | SP110 | c.958A>C (p.Met320Leu) c.1567A>C (p.Met523Leu) c.1417A>C (p.Met473Leu) n.289A>C n.2383A>C c.1585A>C (p.Met529Leu) c.1561A>C (p.Met521Leu) n.221A>C c.1435A>C (p.Met479Leu) | |
2 | g.230177562T>A | CA431539796 | SP110 | c.957A>T (p.Gly319=) c.1566A>T (p.Gly522=) c.1416A>T (p.Gly472=) n.288A>T n.2382A>T c.1584A>T (p.Gly528=) c.1560A>T (p.Gly520=) n.220A>T c.1434A>T (p.Gly478=) | |
2 | g.230177562T>C | CA431539797 | SP110 | c.957A>G (p.Gly319=) c.1566A>G (p.Gly522=) c.1416A>G (p.Gly472=) n.288A>G n.2382A>G c.1584A>G (p.Gly528=) c.1560A>G (p.Gly520=) n.220A>G c.1434A>G (p.Gly478=) | |
2 | g.230177562T>G | CA431539798 | SP110 | c.957A>C (p.Gly319=) c.1566A>C (p.Gly522=) c.1416A>C (p.Gly472=) n.288A>C n.2382A>C c.1584A>C (p.Gly528=) c.1560A>C (p.Gly520=) n.220A>C c.1434A>C (p.Gly478=) | |
2 | g.230177563C>A | CA350903132 | SP110 | c.956G>T (p.Gly319Val) c.1565G>T (p.Gly522Val) c.1415G>T (p.Gly472Val) n.287G>T n.2381G>T c.1583G>T (p.Gly528Val) c.1559G>T (p.Gly520Val) n.219G>T c.1433G>T (p.Gly478Val) | |
2 | g.230177563C= | CA1334207167 | SP110 | c.956G= (p.Gly319=) c.1565G= (p.Gly522=) c.1415G= (p.Gly472=) n.287G= n.2381G= c.1583G= (p.Gly528=) c.1559G= (p.Gly520=) n.219G= c.1433G= (p.Gly478=) | |
2 | g.230177563C>G | CA2154464 | SP110 | c.956G>C (p.Gly319Ala) c.1565G>C (p.Gly522Ala) c.1415G>C (p.Gly472Ala) n.287G>C n.2381G>C c.1583G>C (p.Gly528Ala) c.1559G>C (p.Gly520Ala) n.219G>C c.1433G>C (p.Gly478Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.230177563C>T | CA350903131 | SP110 | c.956G>A (p.Gly319Glu) c.1565G>A (p.Gly522Glu) c.1415G>A (p.Gly472Glu) n.287G>A n.2381G>A c.1583G>A (p.Gly528Glu) c.1559G>A (p.Gly520Glu) n.219G>A c.1433G>A (p.Gly478Glu) | |
2 | g.230177564C>A | CA350903133 | SP110 | c.955G>T (p.Gly319Ter) c.1564G>T (p.Gly522Ter) c.1414G>T (p.Gly472Ter) n.286G>T n.2380G>T c.1582G>T (p.Gly528Ter) c.1558G>T (p.Gly520Ter) n.218G>T c.1432G>T (p.Gly478Ter) | |
2 | g.230177564C>G | CA350903134 | SP110 | c.955G>C (p.Gly319Arg) c.1564G>C (p.Gly522Arg) c.1414G>C (p.Gly472Arg) n.286G>C n.2380G>C c.1582G>C (p.Gly528Arg) c.1558G>C (p.Gly520Arg) n.218G>C c.1432G>C (p.Gly478Arg) | |
2 | g.230177564C>T | CA350903135 | SP110 | c.955G>A (p.Gly319Arg) c.1564G>A (p.Gly522Arg) c.1414G>A (p.Gly472Arg) n.286G>A n.2380G>A c.1582G>A (p.Gly528Arg) c.1558G>A (p.Gly520Arg) n.218G>A c.1432G>A (p.Gly478Arg) | |
2 | g.230177565T>A | CA350903136 | SP110 | c.954A>T (p.Glu318Asp) c.1563A>T (p.Glu521Asp) c.1413A>T (p.Glu471Asp) n.285A>T n.2379A>T c.1581A>T (p.Glu527Asp) c.1557A>T (p.Glu519Asp) n.217A>T c.1431A>T (p.Glu477Asp) | |
2 | g.230177565T>C | CA431539803 | SP110 | c.954A>G (p.Glu318=) c.1563A>G (p.Glu521=) c.1413A>G (p.Glu471=) n.285A>G n.2379A>G c.1581A>G (p.Glu527=) c.1557A>G (p.Glu519=) n.217A>G c.1431A>G (p.Glu477=) | COSMIC COSMIC |
2 | g.230177565T>G | CA350903137 | SP110 | c.954A>C (p.Glu318Asp) c.1563A>C (p.Glu521Asp) c.1413A>C (p.Glu471Asp) n.285A>C n.2379A>C c.1581A>C (p.Glu527Asp) c.1557A>C (p.Glu519Asp) n.217A>C c.1431A>C (p.Glu477Asp) | |
2 | g.230177566T>A | CA350903138 | SP110 | c.953A>T (p.Glu318Val) c.1562A>T (p.Glu521Val) c.1412A>T (p.Glu471Val) n.284A>T n.2378A>T c.1580A>T (p.Glu527Val) c.1556A>T (p.Glu519Val) n.216A>T c.1430A>T (p.Glu477Val) | |
2 | g.230177566T>C | CA350903139 | SP110 | c.953A>G (p.Glu318Gly) c.1562A>G (p.Glu521Gly) c.1412A>G (p.Glu471Gly) n.284A>G n.2378A>G c.1580A>G (p.Glu527Gly) c.1556A>G (p.Glu519Gly) n.216A>G c.1430A>G (p.Glu477Gly) | |
2 | g.230177566T>G | CA350903140 | SP110 | c.953A>C (p.Glu318Ala) c.1562A>C (p.Glu521Ala) c.1412A>C (p.Glu471Ala) n.284A>C n.2378A>C c.1580A>C (p.Glu527Ala) c.1556A>C (p.Glu519Ala) n.216A>C c.1430A>C (p.Glu477Ala) | |
2 | g.230177567C>A | CA350903141 | SP110 | c.952G>T (p.Glu318Ter) c.1561G>T (p.Glu521Ter) c.1411G>T (p.Glu471Ter) n.283G>T n.2377G>T c.1579G>T (p.Glu527Ter) c.1555G>T (p.Glu519Ter) n.215G>T c.1429G>T (p.Glu477Ter) | |
2 | g.230177567C>G | CA350903142 | SP110 | c.952G>C (p.Glu318Gln) c.1561G>C (p.Glu521Gln) c.1411G>C (p.Glu471Gln) n.283G>C n.2377G>C c.1579G>C (p.Glu527Gln) c.1555G>C (p.Glu519Gln) n.215G>C c.1429G>C (p.Glu477Gln) | |
2 | g.230177567C>T | CA350903143 | SP110 | c.952G>A (p.Glu318Lys) c.1561G>A (p.Glu521Lys) c.1411G>A (p.Glu471Lys) n.283G>A n.2377G>A c.1579G>A (p.Glu527Lys) c.1555G>A (p.Glu519Lys) n.215G>A c.1429G>A (p.Glu477Lys) | |
2 | g.230177568A>C | CA350903144 | SP110 | c.951T>G (p.Cys317Trp) c.1560T>G (p.Cys520Trp) c.1410T>G (p.Cys470Trp) n.282T>G n.2376T>G c.1578T>G (p.Cys526Trp) c.1554T>G (p.Cys518Trp) n.214T>G c.1428T>G (p.Cys476Trp) | |
2 | g.230177568A>G | CA431539804 | SP110 | c.951T>C (p.Cys317=) c.1560T>C (p.Cys520=) c.1410T>C (p.Cys470=) n.282T>C n.2376T>C c.1578T>C (p.Cys526=) c.1554T>C (p.Cys518=) n.214T>C c.1428T>C (p.Cys476=) | |
2 | g.230177568A>T | CA350903145 | SP110 | c.951T>A (p.Cys317Ter) c.1560T>A (p.Cys520Ter) c.1410T>A (p.Cys470Ter) n.282T>A n.2376T>A c.1578T>A (p.Cys526Ter) c.1554T>A (p.Cys518Ter) n.214T>A c.1428T>A (p.Cys476Ter) | |
2 | g.230177569C>A | CA350903146 | SP110 | c.950G>T (p.Cys317Phe) c.1559G>T (p.Cys520Phe) c.1409G>T (p.Cys470Phe) n.281G>T n.2375G>T c.1577G>T (p.Cys526Phe) c.1553G>T (p.Cys518Phe) n.213G>T c.1427G>T (p.Cys476Phe) | |
2 | g.230177569C= | CA1334207168 | SP110 | c.950G= (p.Cys317=) c.1559G= (p.Cys520=) c.1409G= (p.Cys470=) n.281G= n.2375G= c.1577G= (p.Cys526=) c.1553G= (p.Cys518=) n.213G= c.1427G= (p.Cys476=) | |
2 | g.230177569C>G | CA350903147 | SP110 | c.950G>C (p.Cys317Ser) c.1559G>C (p.Cys520Ser) c.1409G>C (p.Cys470Ser) n.281G>C n.2375G>C c.1577G>C (p.Cys526Ser) c.1553G>C (p.Cys518Ser) n.213G>C c.1427G>C (p.Cys476Ser) | |
2 | g.230177569C>T | CA350903148 | SP110 | c.950G>A (p.Cys317Tyr) c.1559G>A (p.Cys520Tyr) c.1409G>A (p.Cys470Tyr) n.281G>A n.2375G>A c.1577G>A (p.Cys526Tyr) c.1553G>A (p.Cys518Tyr) n.213G>A c.1427G>A (p.Cys476Tyr) | dbSNP |
2 | g.230177570A>C | CA350903149 | SP110 | c.949T>G (p.Cys317Gly) c.1558T>G (p.Cys520Gly) c.1408T>G (p.Cys470Gly) n.280T>G n.2374T>G c.1576T>G (p.Cys526Gly) c.1552T>G (p.Cys518Gly) n.212T>G c.1426T>G (p.Cys476Gly) | |
2 | g.230177570A>G | CA350903150 | SP110 | c.949T>C (p.Cys317Arg) c.1558T>C (p.Cys520Arg) c.1408T>C (p.Cys470Arg) n.280T>C n.2374T>C c.1576T>C (p.Cys526Arg) c.1552T>C (p.Cys518Arg) n.212T>C c.1426T>C (p.Cys476Arg) | |
2 | g.230177570A>T | CA350903151 | SP110 | c.949T>A (p.Cys317Ser) c.1558T>A (p.Cys520Ser) c.1408T>A (p.Cys470Ser) n.280T>A n.2374T>A c.1576T>A (p.Cys526Ser) c.1552T>A (p.Cys518Ser) n.212T>A c.1426T>A (p.Cys476Ser) | |
2 | g.230177571A>C | CA431539806 | SP110 | c.948T>G (p.Arg316=) c.1557T>G (p.Arg519=) c.1407T>G (p.Arg469=) n.279T>G n.2373T>G c.1575T>G (p.Arg525=) c.1551T>G (p.Arg517=) n.211T>G c.1425T>G (p.Arg475=) | |
2 | g.230177571A>G | CA431539808 | SP110 | c.948T>C (p.Arg316=) c.1557T>C (p.Arg519=) c.1407T>C (p.Arg469=) n.279T>C n.2373T>C c.1575T>C (p.Arg525=) c.1551T>C (p.Arg517=) n.211T>C c.1425T>C (p.Arg475=) | |
2 | g.230177571A>T | CA431539807 | SP110 | c.948T>A (p.Arg316=) c.1557T>A (p.Arg519=) c.1407T>A (p.Arg469=) n.279T>A n.2373T>A c.1575T>A (p.Arg525=) c.1551T>A (p.Arg517=) n.211T>A c.1425T>A (p.Arg475=) | |
2 | g.230177572C>A | CA350903152 | SP110 | c.947G>T (p.Arg316Leu) c.1556G>T (p.Arg519Leu) c.1406G>T (p.Arg469Leu) n.278G>T n.2372G>T c.1574G>T (p.Arg525Leu) c.1550G>T (p.Arg517Leu) n.210G>T c.1424G>T (p.Arg475Leu) | |
2 | g.230177572C= | CA1334207169 | SP110 | c.947G= (p.Arg316=) c.1556G= (p.Arg519=) c.1406G= (p.Arg469=) n.278G= n.2372G= c.1574G= (p.Arg525=) c.1550G= (p.Arg517=) n.210G= c.1424G= (p.Arg475=) | |
2 | g.230177572C>G | CA350903153 | SP110 | c.947G>C (p.Arg316Pro) c.1556G>C (p.Arg519Pro) c.1406G>C (p.Arg469Pro) n.278G>C n.2372G>C c.1574G>C (p.Arg525Pro) c.1550G>C (p.Arg517Pro) n.210G>C c.1424G>C (p.Arg475Pro) | |
2 | g.230177572C>T | CA2154465 | SP110 | c.947G>A (p.Arg316His) c.1556G>A (p.Arg519His) c.1406G>A (p.Arg469His) n.278G>A n.2372G>A c.1574G>A (p.Arg525His) c.1550G>A (p.Arg517His) n.210G>A c.1424G>A (p.Arg475His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.230177573G>A | CA2154466 | SP110 | c.946C>T (p.Arg316Cys) c.1555C>T (p.Arg519Cys) c.1405C>T (p.Arg469Cys) n.277C>T n.2371C>T c.1573C>T (p.Arg525Cys) c.1549C>T (p.Arg517Cys) n.209C>T c.1423C>T (p.Arg475Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.230177573G>C | CA350903154 | SP110 | c.946C>G (p.Arg316Gly) c.1555C>G (p.Arg519Gly) c.1405C>G (p.Arg469Gly) n.277C>G n.2371C>G c.1573C>G (p.Arg525Gly) c.1549C>G (p.Arg517Gly) n.209C>G c.1423C>G (p.Arg475Gly) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.230177573G= | CA1334207170 | SP110 | c.946C= (p.Arg316=) c.1555C= (p.Arg519=) c.1405C= (p.Arg469=) n.277C= n.2371C= c.1573C= (p.Arg525=) c.1549C= (p.Arg517=) n.209C= c.1423C= (p.Arg475=) | |
2 | g.230177573G>T | CA66735093 | SP110 | c.946C>A (p.Arg316Ser) c.1555C>A (p.Arg519Ser) c.1405C>A (p.Arg469Ser) n.277C>A n.2371C>A c.1573C>A (p.Arg525Ser) c.1549C>A (p.Arg517Ser) n.209C>A c.1423C>A (p.Arg475Ser) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.230177574T>A | CA431539810 | SP110 | c.945A>T (p.Ile315=) c.1554A>T (p.Ile518=) c.1404A>T (p.Ile468=) n.276A>T n.2370A>T c.1572A>T (p.Ile524=) c.1548A>T (p.Ile516=) n.208A>T c.1422A>T (p.Ile474=) | |
2 | g.230177574T>C | CA350903155 | SP110 | c.945A>G (p.Ile315Met) c.1554A>G (p.Ile518Met) c.1404A>G (p.Ile468Met) n.276A>G n.2370A>G c.1572A>G (p.Ile524Met) c.1548A>G (p.Ile516Met) n.208A>G c.1422A>G (p.Ile474Met) | |
2 | g.230177574T>G | CA431539811 | SP110 | c.945A>C (p.Ile315=) c.1554A>C (p.Ile518=) c.1404A>C (p.Ile468=) n.276A>C n.2370A>C c.1572A>C (p.Ile524=) c.1548A>C (p.Ile516=) n.208A>C c.1422A>C (p.Ile474=) | |
2 | g.230177575A= | CA1334207171 | SP110 | c.944T= (p.Ile315=) c.1553T= (p.Ile518=) c.1403T= (p.Ile468=) n.275T= n.2369T= c.1571T= (p.Ile524=) c.1547T= (p.Ile516=) n.207T= c.1421T= (p.Ile474=) | |
2 | g.230177575A>C | CA350903156 | SP110 | c.944T>G (p.Ile315Arg) c.1553T>G (p.Ile518Arg) c.1403T>G (p.Ile468Arg) n.275T>G n.2369T>G c.1571T>G (p.Ile524Arg) c.1547T>G (p.Ile516Arg) n.207T>G c.1421T>G (p.Ile474Arg) | |
2 | g.230177575A>G | CA2154467 | SP110 | c.944T>C (p.Ile315Thr) c.1553T>C (p.Ile518Thr) c.1403T>C (p.Ile468Thr) n.275T>C n.2369T>C c.1571T>C (p.Ile524Thr) c.1547T>C (p.Ile516Thr) n.207T>C c.1421T>C (p.Ile474Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.230177575A>T | CA2154468 | SP110 | c.944T>A (p.Ile315Lys) c.1553T>A (p.Ile518Lys) c.1403T>A (p.Ile468Lys) n.275T>A n.2369T>A c.1571T>A (p.Ile524Lys) c.1547T>A (p.Ile516Lys) n.207T>A c.1421T>A (p.Ile474Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.230177576T>A | CA350903157 | SP110 | c.943A>T (p.Ile315Leu) c.1552A>T (p.Ile518Leu) c.1402A>T (p.Ile468Leu) n.274A>T n.2368A>T c.1570A>T (p.Ile524Leu) c.1546A>T (p.Ile516Leu) n.206A>T c.1420A>T (p.Ile474Leu) | |
2 | g.230177576T>C | CA350903158 | SP110 | c.943A>G (p.Ile315Val) c.1552A>G (p.Ile518Val) c.1402A>G (p.Ile468Val) n.274A>G n.2368A>G c.1570A>G (p.Ile524Val) c.1546A>G (p.Ile516Val) n.206A>G c.1420A>G (p.Ile474Val) | COSMIC COSMIC |
2 | g.230177576T>G | CA350903159 | SP110 | c.943A>C (p.Ile315Leu) c.1552A>C (p.Ile518Leu) c.1402A>C (p.Ile468Leu) n.274A>C n.2368A>C c.1570A>C (p.Ile524Leu) c.1546A>C (p.Ile516Leu) n.206A>C c.1420A>C (p.Ile474Leu) | |
2 | g.230177577A= | CA1334207172 | SP110 | c.942T= (p.Asn314=) c.1551T= (p.Asn517=) c.1401T= (p.Asn467=) n.273T= n.2367T= c.1569T= (p.Asn523=) c.1545T= (p.Asn515=) n.205T= c.1419T= (p.Asn473=) | |
2 | g.230177577A>C | CA350903160 | SP110 | c.942T>G (p.Asn314Lys) c.1551T>G (p.Asn517Lys) c.1401T>G (p.Asn467Lys) n.273T>G n.2367T>G c.1569T>G (p.Asn523Lys) c.1545T>G (p.Asn515Lys) n.205T>G c.1419T>G (p.Asn473Lys) | |
2 | g.230177577A>G | CA431539813 | SP110 | c.942T>C (p.Asn314=) c.1551T>C (p.Asn517=) c.1401T>C (p.Asn467=) n.273T>C n.2367T>C c.1569T>C (p.Asn523=) c.1545T>C (p.Asn515=) n.205T>C c.1419T>C (p.Asn473=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.230177577A>T | CA350903161 | SP110 | c.942T>A (p.Asn314Lys) c.1551T>A (p.Asn517Lys) c.1401T>A (p.Asn467Lys) n.273T>A n.2367T>A c.1569T>A (p.Asn523Lys) c.1545T>A (p.Asn515Lys) n.205T>A c.1419T>A (p.Asn473Lys) | |
2 | g.230177578T>A | CA350903162 | SP110 | c.941A>T (p.Asn314Ile) c.1550A>T (p.Asn517Ile) c.1400A>T (p.Asn467Ile) n.272A>T n.2366A>T c.1568A>T (p.Asn523Ile) c.1544A>T (p.Asn515Ile) n.204A>T c.1418A>T (p.Asn473Ile) | |
2 | g.230177578T>C | CA350903163 | SP110 | c.941A>G (p.Asn314Ser) c.1550A>G (p.Asn517Ser) c.1400A>G (p.Asn467Ser) n.272A>G n.2366A>G c.1568A>G (p.Asn523Ser) c.1544A>G (p.Asn515Ser) n.204A>G c.1418A>G (p.Asn473Ser) | COSMIC COSMIC |
2 | g.230177578T>G | CA350903164 | SP110 | c.941A>C (p.Asn314Thr) c.1550A>C (p.Asn517Thr) c.1400A>C (p.Asn467Thr) n.272A>C n.2366A>C c.1568A>C (p.Asn523Thr) c.1544A>C (p.Asn515Thr) n.204A>C c.1418A>C (p.Asn473Thr) | |
2 | g.230177579T>A | CA350903165 | SP110 | c.940A>T (p.Asn314Tyr) c.1549A>T (p.Asn517Tyr) c.1399A>T (p.Asn467Tyr) n.271A>T n.2365A>T c.1567A>T (p.Asn523Tyr) c.1543A>T (p.Asn515Tyr) n.203A>T c.1417A>T (p.Asn473Tyr) | |
2 | g.230177579T>C | CA66735101 | SP110 | c.940A>G (p.Asn314Asp) c.1549A>G (p.Asn517Asp) c.1399A>G (p.Asn467Asp) n.271A>G n.2365A>G c.1567A>G (p.Asn523Asp) c.1543A>G (p.Asn515Asp) n.203A>G c.1417A>G (p.Asn473Asp) | dbSNP |
2 | g.230177579T>G | CA350903166 | SP110 | c.940A>C (p.Asn314His) c.1549A>C (p.Asn517His) c.1399A>C (p.Asn467His) n.271A>C n.2365A>C c.1567A>C (p.Asn523His) c.1543A>C (p.Asn515His) n.203A>C c.1417A>C (p.Asn473His) | |
2 | g.230177579T= | CA1334207173 | SP110 | c.940A= (p.Asn314=) c.1549A= (p.Asn517=) c.1399A= (p.Asn467=) n.271A= n.2365A= c.1567A= (p.Asn523=) c.1543A= (p.Asn515=) n.203A= c.1417A= (p.Asn473=) | |
2 | g.230177580C>A | CA431539815 | SP110 | c.939G>T (p.Arg313=) c.1548G>T (p.Arg516=) c.1398G>T (p.Arg466=) n.270G>T n.2364G>T c.1566G>T (p.Arg522=) c.1542G>T (p.Arg514=) n.202G>T c.1416G>T (p.Arg472=) | |
2 | g.230177580C>G | CA431539817 | SP110 | c.939G>C (p.Arg313=) c.1548G>C (p.Arg516=) c.1398G>C (p.Arg466=) n.270G>C n.2364G>C c.1566G>C (p.Arg522=) c.1542G>C (p.Arg514=) n.202G>C c.1416G>C (p.Arg472=) | |
2 | g.230177580C>T | CA431539818 | SP110 | c.939G>A (p.Arg313=) c.1548G>A (p.Arg516=) c.1398G>A (p.Arg466=) n.270G>A n.2364G>A c.1566G>A (p.Arg522=) c.1542G>A (p.Arg514=) n.202G>A c.1416G>A (p.Arg472=) | |
2 | g.230177581C>A | CA350903167 | SP110 | c.938G>T (p.Arg313Leu) c.1547G>T (p.Arg516Leu) c.1397G>T (p.Arg466Leu) n.269G>T n.2363G>T c.1565G>T (p.Arg522Leu) c.1541G>T (p.Arg514Leu) n.201G>T c.1415G>T (p.Arg472Leu) | |
2 | g.230177581C= | CA1334207174 | SP110 | c.938G= (p.Arg313=) c.1547G= (p.Arg516=) c.1397G= (p.Arg466=) n.269G= n.2363G= c.1565G= (p.Arg522=) c.1541G= (p.Arg514=) n.201G= c.1415G= (p.Arg472=) | |
2 | g.230177581C>G | CA350903168 | SP110 | c.938G>C (p.Arg313Pro) c.1547G>C (p.Arg516Pro) c.1397G>C (p.Arg466Pro) n.269G>C n.2363G>C c.1565G>C (p.Arg522Pro) c.1541G>C (p.Arg514Pro) n.201G>C c.1415G>C (p.Arg472Pro) | |
2 | g.230177581C>T | CA2154469 | SP110 | c.938G>A (p.Arg313Gln) c.1547G>A (p.Arg516Gln) c.1397G>A (p.Arg466Gln) n.269G>A n.2363G>A c.1565G>A (p.Arg522Gln) c.1541G>A (p.Arg514Gln) n.201G>A c.1415G>A (p.Arg472Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.230177582G>A | CA2154470 | SP110 | c.937C>T (p.Arg313Trp) c.1546C>T (p.Arg516Trp) c.1396C>T (p.Arg466Trp) n.268C>T n.2362C>T c.1564C>T (p.Arg522Trp) c.1540C>T (p.Arg514Trp) n.200C>T c.1414C>T (p.Arg472Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.230177582G>C | CA350903169 | SP110 | c.937C>G (p.Arg313Gly) c.1546C>G (p.Arg516Gly) c.1396C>G (p.Arg466Gly) n.268C>G n.2362C>G c.1564C>G (p.Arg522Gly) c.1540C>G (p.Arg514Gly) n.200C>G c.1414C>G (p.Arg472Gly) | |
2 | g.230177582G= | CA1334207175 | SP110 | c.937C= (p.Arg313=) c.1546C= (p.Arg516=) c.1396C= (p.Arg466=) n.268C= n.2362C= c.1564C= (p.Arg522=) c.1540C= (p.Arg514=) n.200C= c.1414C= (p.Arg472=) | |
2 | g.230177582G>T | CA431539819 | SP110 | c.937C>A (p.Arg313=) c.1546C>A (p.Arg516=) c.1396C>A (p.Arg466=) n.268C>A n.2362C>A c.1564C>A (p.Arg522=) c.1540C>A (p.Arg514=) n.200C>A c.1414C>A (p.Arg472=) | dbSNP |
2 | g.230177583T>A | CA350903170 | SP110 | c.936A>T (p.Lys312Asn) c.1545A>T (p.Lys515Asn) c.1395A>T (p.Lys465Asn) n.267A>T n.2361A>T c.1563A>T (p.Lys521Asn) c.1539A>T (p.Lys513Asn) n.199A>T c.1413A>T (p.Lys471Asn) | |
2 | g.230177583T>C | CA431539820 | SP110 | c.936A>G (p.Lys312=) c.1545A>G (p.Lys515=) c.1395A>G (p.Lys465=) n.267A>G n.2361A>G c.1563A>G (p.Lys521=) c.1539A>G (p.Lys513=) n.199A>G c.1413A>G (p.Lys471=) | |
2 | g.230177583T>G | CA350903171 | SP110 | c.936A>C (p.Lys312Asn) c.1545A>C (p.Lys515Asn) c.1395A>C (p.Lys465Asn) n.267A>C n.2361A>C c.1563A>C (p.Lys521Asn) c.1539A>C (p.Lys513Asn) n.199A>C c.1413A>C (p.Lys471Asn) | |
2 | g.230177584T>A | CA350903172 | SP110 | c.935A>T (p.Lys312Ile) c.1544A>T (p.Lys515Ile) c.1394A>T (p.Lys465Ile) n.266A>T n.2360A>T c.1562A>T (p.Lys521Ile) c.1538A>T (p.Lys513Ile) n.198A>T c.1412A>T (p.Lys471Ile) | |
2 | g.230177584T>C | CA350903173 | SP110 | c.935A>G (p.Lys312Arg) c.1544A>G (p.Lys515Arg) c.1394A>G (p.Lys465Arg) n.266A>G n.2360A>G c.1562A>G (p.Lys521Arg) c.1538A>G (p.Lys513Arg) n.198A>G c.1412A>G (p.Lys471Arg) | |
2 | g.230177584T>G | CA350903174 | SP110 | c.935A>C (p.Lys312Thr) c.1544A>C (p.Lys515Thr) c.1394A>C (p.Lys465Thr) n.266A>C n.2360A>C c.1562A>C (p.Lys521Thr) c.1538A>C (p.Lys513Thr) n.198A>C c.1412A>C (p.Lys471Thr) | |
2 | g.230177585T>A | CA350903175 | SP110 | c.934A>T (p.Lys312Ter) c.1543A>T (p.Lys515Ter) c.1393A>T (p.Lys465Ter) n.265A>T n.2359A>T c.1561A>T (p.Lys521Ter) c.1537A>T (p.Lys513Ter) n.197A>T c.1411A>T (p.Lys471Ter) | |
2 | g.230177585T>C | CA350903176 | SP110 | c.934A>G (p.Lys312Glu) c.1543A>G (p.Lys515Glu) c.1393A>G (p.Lys465Glu) n.265A>G n.2359A>G c.1561A>G (p.Lys521Glu) c.1537A>G (p.Lys513Glu) n.197A>G c.1411A>G (p.Lys471Glu) | |
2 | g.230177585T>G | CA350903177 | SP110 | c.934A>C (p.Lys312Gln) c.1543A>C (p.Lys515Gln) c.1393A>C (p.Lys465Gln) n.265A>C n.2359A>C c.1561A>C (p.Lys521Gln) c.1537A>C (p.Lys513Gln) n.197A>C c.1411A>C (p.Lys471Gln) | |
2 | g.230177585_230177586delinsTC | CA1334207176 | SP110 | c.933_934delinsGA (p.Trp311=) c.1542_1543delinsGA (p.Trp514=) c.1392_1393delinsGA (p.Trp464=) n.264_265delinsGA n.2358_2359delinsGA c.1560_1561delinsGA (p.Trp520=) c.1536_1537delinsGA (p.Trp512=) n.196_197delinsGA c.1410_1411delinsGA (p.Trp470=) | |
2 | g.230177586C>A | CA350903178 | SP110 | c.933G>T (p.Trp311Cys) c.1542G>T (p.Trp514Cys) c.1392G>T (p.Trp464Cys) n.264G>T n.2358G>T c.1560G>T (p.Trp520Cys) c.1536G>T (p.Trp512Cys) n.196G>T c.1410G>T (p.Trp470Cys) | |
2 | g.230177586C>G | CA350903179 | SP110 | c.933G>C (p.Trp311Cys) c.1542G>C (p.Trp514Cys) c.1392G>C (p.Trp464Cys) n.264G>C n.2358G>C c.1560G>C (p.Trp520Cys) c.1536G>C (p.Trp512Cys) n.196G>C c.1410G>C (p.Trp470Cys) | |
2 | g.230177586C>T | CA350903180 | SP110 | c.933G>A (p.Trp311Ter) c.1542G>A (p.Trp514Ter) c.1392G>A (p.Trp464Ter) n.264G>A n.2358G>A c.1560G>A (p.Trp520Ter) c.1536G>A (p.Trp512Ter) n.196G>A c.1410G>A (p.Trp470Ter) | |
2 | g.230177587del | CA539929914 | SP110 | c.933del (p.Trp311Ter) c.1542del (p.Trp514Ter) c.1392del (p.Trp464Ter) n.264del n.2358del c.1560del (p.Trp520Ter) c.1536del (p.Trp512Ter) n.196del c.1410del (p.Trp470Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.230177587C>A | CA2154471 | SP110 | c.932G>T (p.Trp311Leu) c.1541G>T (p.Trp514Leu) c.1391G>T (p.Trp464Leu) n.263G>T n.2357G>T c.1559G>T (p.Trp520Leu) c.1535G>T (p.Trp512Leu) n.195G>T c.1409G>T (p.Trp470Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.230177587C= | CA1334207177 | SP110 | c.932G= (p.Trp311=) c.1541G= (p.Trp514=) c.1391G= (p.Trp464=) n.263G= n.2357G= c.1559G= (p.Trp520=) c.1535G= (p.Trp512=) n.195G= c.1409G= (p.Trp470=) | |
2 | g.230177587C>G | CA350903182 | SP110 | c.932G>C (p.Trp311Ser) c.1541G>C (p.Trp514Ser) c.1391G>C (p.Trp464Ser) n.263G>C n.2357G>C c.1559G>C (p.Trp520Ser) c.1535G>C (p.Trp512Ser) n.195G>C c.1409G>C (p.Trp470Ser) | |
2 | g.230177587C>T | CA350903181 | SP110 | c.932G>A (p.Trp311Ter) c.1541G>A (p.Trp514Ter) c.1391G>A (p.Trp464Ter) n.263G>A n.2357G>A c.1559G>A (p.Trp520Ter) c.1535G>A (p.Trp512Ter) n.195G>A c.1409G>A (p.Trp470Ter) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.230177588A= | CA1334207178 | SP110 | c.931T= (p.Trp311=) c.1540T= (p.Trp514=) c.1390T= (p.Trp464=) n.262T= n.2356T= c.1558T= (p.Trp520=) c.1534T= (p.Trp512=) n.194T= c.1408T= (p.Trp470=) | |
2 | g.230177588A>C | CA350903183 | SP110 | c.931T>G (p.Trp311Gly) c.1540T>G (p.Trp514Gly) c.1390T>G (p.Trp464Gly) n.262T>G n.2356T>G c.1558T>G (p.Trp520Gly) c.1534T>G (p.Trp512Gly) n.194T>G c.1408T>G (p.Trp470Gly) | |
2 | g.230177588A>G | CA350903184 | SP110 | c.931T>C (p.Trp311Arg) c.1540T>C (p.Trp514Arg) c.1390T>C (p.Trp464Arg) n.262T>C n.2356T>C c.1558T>C (p.Trp520Arg) c.1534T>C (p.Trp512Arg) n.194T>C c.1408T>C (p.Trp470Arg) | dbSNP gnomAD v2 |
2 | g.230177588A>T | CA350903185 | SP110 | c.931T>A (p.Trp311Arg) c.1540T>A (p.Trp514Arg) c.1390T>A (p.Trp464Arg) n.262T>A n.2356T>A c.1558T>A (p.Trp520Arg) c.1534T>A (p.Trp512Arg) n.194T>A c.1408T>A (p.Trp470Arg) | |
2 | g.230177589G>A | CA431539823 | SP110 | c.930C>T (p.Asn310=) c.1539C>T (p.Asn513=) c.1389C>T (p.Asn463=) n.261C>T n.2355C>T c.1557C>T (p.Asn519=) c.1533C>T (p.Asn511=) n.193C>T c.1407C>T (p.Asn469=) | gnomAD v4 |
2 | g.230177589G>C | CA350903186 | SP110 | c.930C>G (p.Asn310Lys) c.1539C>G (p.Asn513Lys) c.1389C>G (p.Asn463Lys) n.261C>G n.2355C>G c.1557C>G (p.Asn519Lys) c.1533C>G (p.Asn511Lys) n.193C>G c.1407C>G (p.Asn469Lys) | |
2 | g.230177589G>T | CA350903187 | SP110 | c.930C>A (p.Asn310Lys) c.1539C>A (p.Asn513Lys) c.1389C>A (p.Asn463Lys) n.261C>A n.2355C>A c.1557C>A (p.Asn519Lys) c.1533C>A (p.Asn511Lys) n.193C>A c.1407C>A (p.Asn469Lys) | |
2 | g.230177590T>A | CA350903190 | SP110 | c.929A>T (p.Asn310Ile) c.1538A>T (p.Asn513Ile) c.1388A>T (p.Asn463Ile) n.260A>T n.2354A>T c.1556A>T (p.Asn519Ile) c.1532A>T (p.Asn511Ile) n.192A>T c.1406A>T (p.Asn469Ile) | |
2 | g.230177590T>C | CA350903188 | SP110 | c.929A>G (p.Asn310Ser) c.1538A>G (p.Asn513Ser) c.1388A>G (p.Asn463Ser) n.260A>G n.2354A>G c.1556A>G (p.Asn519Ser) c.1532A>G (p.Asn511Ser) n.192A>G c.1406A>G (p.Asn469Ser) | gnomAD v4 |
2 | g.230177590T>G | CA350903189 | SP110 | c.929A>C (p.Asn310Thr) c.1538A>C (p.Asn513Thr) c.1388A>C (p.Asn463Thr) n.260A>C n.2354A>C c.1556A>C (p.Asn519Thr) c.1532A>C (p.Asn511Thr) n.192A>C c.1406A>C (p.Asn469Thr) | |
2 | g.230177591T>A | CA350903191 | SP110 | c.928A>T (p.Asn310Tyr) c.1537A>T (p.Asn513Tyr) c.1387A>T (p.Asn463Tyr) n.259A>T n.2353A>T c.1555A>T (p.Asn519Tyr) c.1531A>T (p.Asn511Tyr) n.191A>T c.1405A>T (p.Asn469Tyr) | |
2 | g.230177591T>C | CA350903192 | SP110 | c.928A>G (p.Asn310Asp) c.1537A>G (p.Asn513Asp) c.1387A>G (p.Asn463Asp) n.259A>G n.2353A>G c.1555A>G (p.Asn519Asp) c.1531A>G (p.Asn511Asp) n.191A>G c.1405A>G (p.Asn469Asp) | |
2 | g.230177591T>G | CA350903193 | SP110 | c.928A>C (p.Asn310His) c.1537A>C (p.Asn513His) c.1387A>C (p.Asn463His) n.259A>C n.2353A>C c.1555A>C (p.Asn519His) c.1531A>C (p.Asn511His) n.191A>C c.1405A>C (p.Asn469His) | |
2 | g.230177592del | CA2701864485 | SP110 | c.927del (p.Asn310ThrfsTer11) c.1536del (p.Asn513ThrfsTer11) c.1386del (p.Asn463ThrfsTer11) n.258del n.2352del c.1554del (p.Asn519ThrfsTer11) c.1530del (p.Asn511ThrfsTer11) n.190del c.1404del (p.Asn469ThrfsTer11) | dbSNP |
2 | g.230177592C>A | CA350903194 | SP110 | c.927G>T (p.Lys309Asn) c.1536G>T (p.Lys512Asn) c.1386G>T (p.Lys462Asn) n.258G>T n.2352G>T c.1554G>T (p.Lys518Asn) c.1530G>T (p.Lys510Asn) n.190G>T c.1404G>T (p.Lys468Asn) | COSMIC |
2 | g.230177592C>G | CA350903195 | SP110 | c.927G>C (p.Lys309Asn) c.1536G>C (p.Lys512Asn) c.1386G>C (p.Lys462Asn) n.258G>C n.2352G>C c.1554G>C (p.Lys518Asn) c.1530G>C (p.Lys510Asn) n.190G>C c.1404G>C (p.Lys468Asn) | gnomAD v4 COSMIC COSMIC |
2 | g.230177592C>T | CA431539824 | SP110 | c.927G>A (p.Lys309=) c.1536G>A (p.Lys512=) c.1386G>A (p.Lys462=) n.258G>A n.2352G>A c.1554G>A (p.Lys518=) c.1530G>A (p.Lys510=) n.190G>A c.1404G>A (p.Lys468=) | |
2 | g.230177593T>A | CA2154472 | SP110 | c.926A>T (p.Lys309Met) c.1535A>T (p.Lys512Met) c.1385A>T (p.Lys462Met) n.257A>T n.2351A>T c.1553A>T (p.Lys518Met) c.1529A>T (p.Lys510Met) n.189A>T c.1403A>T (p.Lys468Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.230177593T>C | CA350903197 | SP110 | c.926A>G (p.Lys309Arg) c.1535A>G (p.Lys512Arg) c.1385A>G (p.Lys462Arg) n.257A>G n.2351A>G c.1553A>G (p.Lys518Arg) c.1529A>G (p.Lys510Arg) n.189A>G c.1403A>G (p.Lys468Arg) | |
2 | g.230177593T>G | CA350903196 | SP110 | c.926A>C (p.Lys309Thr) c.1535A>C (p.Lys512Thr) c.1385A>C (p.Lys462Thr) n.257A>C n.2351A>C c.1553A>C (p.Lys518Thr) c.1529A>C (p.Lys510Thr) n.189A>C c.1403A>C (p.Lys468Thr) | |
2 | g.230177593T= | CA1334207179 | SP110 | c.926A= (p.Lys309=) c.1535A= (p.Lys512=) c.1385A= (p.Lys462=) n.257A= n.2351A= c.1553A= (p.Lys518=) c.1529A= (p.Lys510=) n.189A= c.1403A= (p.Lys468=) | |
2 | g.230177594T>A | CA350903198 | SP110 | c.925A>T (p.Lys309Ter) c.1534A>T (p.Lys512Ter) c.1384A>T (p.Lys462Ter) n.256A>T n.2350A>T c.1552A>T (p.Lys518Ter) c.1528A>T (p.Lys510Ter) n.188A>T c.1402A>T (p.Lys468Ter) | |
2 | g.230177594T>C | CA350903199 | SP110 | c.925A>G (p.Lys309Glu) c.1534A>G (p.Lys512Glu) c.1384A>G (p.Lys462Glu) n.256A>G n.2350A>G c.1552A>G (p.Lys518Glu) c.1528A>G (p.Lys510Glu) n.188A>G c.1402A>G (p.Lys468Glu) | |
2 | g.230177594T>G | CA350903200 | SP110 | c.925A>C (p.Lys309Gln) c.1534A>C (p.Lys512Gln) c.1384A>C (p.Lys462Gln) n.256A>C n.2350A>C c.1552A>C (p.Lys518Gln) c.1528A>C (p.Lys510Gln) n.188A>C c.1402A>C (p.Lys468Gln) | |
2 | g.230177595T>A | CA431539827 | SP110 | c.924A>T (p.Ala308=) c.1533A>T (p.Ala511=) c.1383A>T (p.Ala461=) n.255A>T n.2349A>T c.1551A>T (p.Ala517=) c.1527A>T (p.Ala509=) n.187A>T c.1401A>T (p.Ala467=) | |
2 | g.230177595T>C | CA431539828 | SP110 | c.924A>G (p.Ala308=) c.1533A>G (p.Ala511=) c.1383A>G (p.Ala461=) n.255A>G n.2349A>G c.1551A>G (p.Ala517=) c.1527A>G (p.Ala509=) n.187A>G c.1401A>G (p.Ala467=) | ClinVar dbSNP |
2 | g.230177595T>G | CA431539829 | SP110 | c.924A>C (p.Ala308=) c.1533A>C (p.Ala511=) c.1383A>C (p.Ala461=) n.255A>C n.2349A>C c.1551A>C (p.Ala517=) c.1527A>C (p.Ala509=) n.187A>C c.1401A>C (p.Ala467=) | |
2 | g.230177596G>A | CA350903201 | SP110 | c.923C>T (p.Ala308Val) c.1532C>T (p.Ala511Val) c.1382C>T (p.Ala461Val) n.254C>T n.2348C>T c.1550C>T (p.Ala517Val) c.1526C>T (p.Ala509Val) n.186C>T c.1400C>T (p.Ala467Val) | |
2 | g.230177596G>C | CA350903202 | SP110 | c.923C>G (p.Ala308Gly) c.1532C>G (p.Ala511Gly) c.1382C>G (p.Ala461Gly) n.254C>G n.2348C>G c.1550C>G (p.Ala517Gly) c.1526C>G (p.Ala509Gly) n.186C>G c.1400C>G (p.Ala467Gly) | |
2 | g.230177596G>T | CA350903203 | SP110 | c.923C>A (p.Ala308Glu) c.1532C>A (p.Ala511Glu) c.1382C>A (p.Ala461Glu) n.254C>A n.2348C>A c.1550C>A (p.Ala517Glu) c.1526C>A (p.Ala509Glu) n.186C>A c.1400C>A (p.Ala467Glu) | |
2 | g.230177597del | CA2663486803 | SP110 | c.922del (p.Ala308GlnfsTer13) c.1531del (p.Ala511GlnfsTer13) c.1381del (p.Ala461GlnfsTer13) n.253del n.2347del c.1549del (p.Ala517GlnfsTer13) c.1525del (p.Ala509GlnfsTer13) n.185del c.1399del (p.Ala467GlnfsTer13) | gnomAD v4 |
2 | g.230177597C>A | CA350903204 | SP110 | c.922G>T (p.Ala308Ser) c.1531G>T (p.Ala511Ser) c.1381G>T (p.Ala461Ser) n.253G>T n.2347G>T c.1549G>T (p.Ala517Ser) c.1525G>T (p.Ala509Ser) n.185G>T c.1399G>T (p.Ala467Ser) | COSMIC COSMIC |
2 | g.230177597C= | CA1334207180 | SP110 | c.922G= (p.Ala308=) c.1531G= (p.Ala511=) c.1381G= (p.Ala461=) n.253G= n.2347G= c.1549G= (p.Ala517=) c.1525G= (p.Ala509=) n.185G= c.1399G= (p.Ala467=) | |
2 | g.230177597C>G | CA350903205 | SP110 | c.922G>C (p.Ala308Pro) c.1531G>C (p.Ala511Pro) c.1381G>C (p.Ala461Pro) n.253G>C n.2347G>C c.1549G>C (p.Ala517Pro) c.1525G>C (p.Ala509Pro) n.185G>C c.1399G>C (p.Ala467Pro) | |
2 | g.230177597C>T | CA2154473 | SP110 | c.922G>A (p.Ala308Thr) c.1531G>A (p.Ala511Thr) c.1381G>A (p.Ala461Thr) n.253G>A n.2347G>A c.1549G>A (p.Ala517Thr) c.1525G>A (p.Ala509Thr) n.185G>A c.1399G>A (p.Ala467Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.230177598G>A | CA2154474 | SP110 | c.921C>T (p.Asn307=) c.1530C>T (p.Asn510=) c.1380C>T (p.Asn460=) n.252C>T n.2346C>T c.1548C>T (p.Asn516=) c.1524C>T (p.Asn508=) n.184C>T c.1398C>T (p.Asn466=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.230177598G>C | CA350903206 | SP110 | c.921C>G (p.Asn307Lys) c.1530C>G (p.Asn510Lys) c.1380C>G (p.Asn460Lys) n.252C>G n.2346C>G c.1548C>G (p.Asn516Lys) c.1524C>G (p.Asn508Lys) n.184C>G c.1398C>G (p.Asn466Lys) | |
2 | g.230177598G= | CA1334207181 | SP110 | c.921C= (p.Asn307=) c.1530C= (p.Asn510=) c.1380C= (p.Asn460=) n.252C= n.2346C= c.1548C= (p.Asn516=) c.1524C= (p.Asn508=) n.184C= c.1398C= (p.Asn466=) | |
2 | g.230177598G>T | CA350903207 | SP110 | c.921C>A (p.Asn307Lys) c.1530C>A (p.Asn510Lys) c.1380C>A (p.Asn460Lys) n.252C>A n.2346C>A c.1548C>A (p.Asn516Lys) c.1524C>A (p.Asn508Lys) n.184C>A c.1398C>A (p.Asn466Lys) | |
2 | g.230177599T>A | CA350903209 | SP110 | c.920A>T (p.Asn307Ile) c.1529A>T (p.Asn510Ile) c.1379A>T (p.Asn460Ile) n.251A>T n.2345A>T c.1547A>T (p.Asn516Ile) c.1523A>T (p.Asn508Ile) n.183A>T c.1397A>T (p.Asn466Ile) | |
2 | g.230177599T>C | CA350903210 | SP110 | c.920A>G (p.Asn307Ser) c.1529A>G (p.Asn510Ser) c.1379A>G (p.Asn460Ser) n.251A>G n.2345A>G c.1547A>G (p.Asn516Ser) c.1523A>G (p.Asn508Ser) n.183A>G c.1397A>G (p.Asn466Ser) | ClinVar |
2 | g.230177599T>G | CA350903208 | SP110 | c.920A>C (p.Asn307Thr) c.1529A>C (p.Asn510Thr) c.1379A>C (p.Asn460Thr) n.251A>C n.2345A>C c.1547A>C (p.Asn516Thr) c.1523A>C (p.Asn508Thr) n.183A>C c.1397A>C (p.Asn466Thr) | |
2 | g.230177600T>A | CA350903211 | SP110 | c.919A>T (p.Asn307Tyr) c.1528A>T (p.Asn510Tyr) c.1378A>T (p.Asn460Tyr) n.250A>T n.2344A>T c.1546A>T (p.Asn516Tyr) c.1522A>T (p.Asn508Tyr) n.182A>T c.1396A>T (p.Asn466Tyr) | |
2 | g.230177600T>C | CA350903212 | SP110 | c.919A>G (p.Asn307Asp) c.1528A>G (p.Asn510Asp) c.1378A>G (p.Asn460Asp) n.250A>G n.2344A>G c.1546A>G (p.Asn516Asp) c.1522A>G (p.Asn508Asp) n.182A>G c.1396A>G (p.Asn466Asp) | COSMIC COSMIC |
2 | g.230177600T>G | CA350903213 | SP110 | c.919A>C (p.Asn307His) c.1528A>C (p.Asn510His) c.1378A>C (p.Asn460His) n.250A>C n.2344A>C c.1546A>C (p.Asn516His) c.1522A>C (p.Asn508His) n.182A>C c.1396A>C (p.Asn466His) | |
2 | g.230177601C>A | CA350903214 | SP110 | c.918G>T (p.Arg306Ser) c.1527G>T (p.Arg509Ser) c.1377G>T (p.Arg459Ser) n.249G>T n.2343G>T c.1545G>T (p.Arg515Ser) c.1521G>T (p.Arg507Ser) n.181G>T c.1395G>T (p.Arg465Ser) | |
2 | g.230177601C>G | CA350903215 | SP110 | c.918G>C (p.Arg306Ser) c.1527G>C (p.Arg509Ser) c.1377G>C (p.Arg459Ser) n.249G>C n.2343G>C c.1545G>C (p.Arg515Ser) c.1521G>C (p.Arg507Ser) n.181G>C c.1395G>C (p.Arg465Ser) | |
2 | g.230177601C>T | CA431539834 | SP110 | c.918G>A (p.Arg306=) c.1527G>A (p.Arg509=) c.1377G>A (p.Arg459=) n.249G>A n.2343G>A c.1545G>A (p.Arg515=) c.1521G>A (p.Arg507=) n.181G>A c.1395G>A (p.Arg465=) | dbSNP |
2 | g.230177602C>A | CA350903218 | SP110 | c.917G>T (p.Arg306Met) c.1526G>T (p.Arg509Met) c.1376G>T (p.Arg459Met) n.248G>T n.2342G>T c.1544G>T (p.Arg515Met) c.1520G>T (p.Arg507Met) n.180G>T c.1394G>T (p.Arg465Met) | COSMIC COSMIC |
2 | g.230177602C>G | CA350903216 | SP110 | c.917G>C (p.Arg306Thr) c.1526G>C (p.Arg509Thr) c.1376G>C (p.Arg459Thr) n.248G>C n.2342G>C c.1544G>C (p.Arg515Thr) c.1520G>C (p.Arg507Thr) n.180G>C c.1394G>C (p.Arg465Thr) | |
2 | g.230177602C>T | CA350903217 | SP110 | c.917G>A (p.Arg306Lys) c.1526G>A (p.Arg509Lys) c.1376G>A (p.Arg459Lys) n.248G>A n.2342G>A c.1544G>A (p.Arg515Lys) c.1520G>A (p.Arg507Lys) n.180G>A c.1394G>A (p.Arg465Lys) | gnomAD v4 |
2 | g.230177603T>A | CA350903219 | SP110 | c.916A>T (p.Arg306Trp) c.1525A>T (p.Arg509Trp) c.1375A>T (p.Arg459Trp) n.247A>T n.2341A>T c.1543A>T (p.Arg515Trp) c.1519A>T (p.Arg507Trp) n.179A>T c.1393A>T (p.Arg465Trp) | |
2 | g.230177603T>C | CA350903220 | SP110 | c.916A>G (p.Arg306Gly) c.1525A>G (p.Arg509Gly) c.1375A>G (p.Arg459Gly) n.247A>G n.2341A>G c.1543A>G (p.Arg515Gly) c.1519A>G (p.Arg507Gly) n.179A>G c.1393A>G (p.Arg465Gly) | |
2 | g.230177603T>G | CA2154475 | SP110 | c.916A>C (p.Arg306=) c.1525A>C (p.Arg509=) c.1375A>C (p.Arg459=) n.247A>C n.2341A>C c.1543A>C (p.Arg515=) c.1519A>C (p.Arg507=) n.179A>C c.1393A>C (p.Arg465=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.230177603T= | CA1334207182 | SP110 | c.916A= (p.Arg306=) c.1525A= (p.Arg509=) c.1375A= (p.Arg459=) n.247A= n.2341A= c.1543A= (p.Arg515=) c.1519A= (p.Arg507=) n.179A= c.1393A= (p.Arg465=) | |
2 | g.230177609_230177614del | CA2577269641 | SP110 | c.911_916del (p.Lys304_Gly305del) c.1520_1525del (p.Lys507_Gly508del) c.1370_1375del (p.Lys457_Gly458del) n.242_247del n.2336_2341del c.1538_1543del (p.Lys513_Gly514del) c.1514_1519del (p.Lys505_Gly506del) n.174_179del c.1388_1393del (p.Lys463_Gly464del) | ClinVar gnomAD v4 |
2 | g.230177604T>A | CA431539835 | SP110 | c.915A>T (p.Gly305=) c.1524A>T (p.Gly508=) c.1374A>T (p.Gly458=) n.246A>T n.2340A>T c.1542A>T (p.Gly514=) c.1518A>T (p.Gly506=) n.178A>T c.1392A>T (p.Gly464=) | |
2 | g.230177604T>C | CA431539837 | SP110 | c.915A>G (p.Gly305=) c.1524A>G (p.Gly508=) c.1374A>G (p.Gly458=) n.246A>G n.2340A>G c.1542A>G (p.Gly514=) c.1518A>G (p.Gly506=) n.178A>G c.1392A>G (p.Gly464=) | |
2 | g.230177604T>G | CA431539839 | SP110 | c.915A>C (p.Gly305=) c.1524A>C (p.Gly508=) c.1374A>C (p.Gly458=) n.246A>C n.2340A>C c.1542A>C (p.Gly514=) c.1518A>C (p.Gly506=) n.178A>C c.1392A>C (p.Gly464=) | |
2 | g.230177605C>A | CA350903221 | SP110 | c.914G>T (p.Gly305Val) c.1523G>T (p.Gly508Val) c.1373G>T (p.Gly458Val) n.245G>T n.2339G>T c.1541G>T (p.Gly514Val) c.1517G>T (p.Gly506Val) n.177G>T c.1391G>T (p.Gly464Val) | dbSNP |
2 | g.230177605C= | CA1334207183 | SP110 | c.914G= (p.Gly305=) c.1523G= (p.Gly508=) c.1373G= (p.Gly458=) n.245G= n.2339G= c.1541G= (p.Gly514=) c.1517G= (p.Gly506=) n.177G= c.1391G= (p.Gly464=) | |
2 | g.230177605C>G | CA350903222 | SP110 | c.914G>C (p.Gly305Ala) c.1523G>C (p.Gly508Ala) c.1373G>C (p.Gly458Ala) n.245G>C n.2339G>C c.1541G>C (p.Gly514Ala) c.1517G>C (p.Gly506Ala) n.177G>C c.1391G>C (p.Gly464Ala) | |
2 | g.230177605C>T | CA350903223 | SP110 | c.914G>A (p.Gly305Glu) c.1523G>A (p.Gly508Glu) c.1373G>A (p.Gly458Glu) n.245G>A n.2339G>A c.1541G>A (p.Gly514Glu) c.1517G>A (p.Gly506Glu) n.177G>A c.1391G>A (p.Gly464Glu) | |
2 | g.230177605_230177617delinsCCTTTTCCTTCGA | CA1334207184 | SP110 | c.902_914delinsTCGAAGGAAAAGG (p.Val301=) c.1511_1523delinsTCGAAGGAAAAGG (p.Val504=) c.1361_1373delinsTCGAAGGAAAAGG (p.Val454=) n.233_245delinsTCGAAGGAAAAGG n.2327_2339delinsTCGAAGGAAAAGG c.1529_1541delinsTCGAAGGAAAAGG (p.Val510=) c.1505_1517delinsTCGAAGGAAAAGG (p.Val502=) n.165_177delinsTCGAAGGAAAAGG c.1379_1391delinsTCGAAGGAAAAGG (p.Val460=) | |
2 | g.230177606C>A | CA350903225 | SP110 | c.913G>T (p.Gly305Ter) c.1522G>T (p.Gly508Ter) c.1372G>T (p.Gly458Ter) n.244G>T n.2338G>T c.1540G>T (p.Gly514Ter) c.1516G>T (p.Gly506Ter) n.176G>T c.1390G>T (p.Gly464Ter) | |
2 | g.230177606C>G | CA350903226 | SP110 | c.913G>C (p.Gly305Arg) c.1522G>C (p.Gly508Arg) c.1372G>C (p.Gly458Arg) n.244G>C n.2338G>C c.1540G>C (p.Gly514Arg) c.1516G>C (p.Gly506Arg) n.176G>C c.1390G>C (p.Gly464Arg) | |
2 | g.230177606C>T | CA350903224 | SP110 | c.913G>A (p.Gly305Arg) c.1522G>A (p.Gly508Arg) c.1372G>A (p.Gly458Arg) n.244G>A n.2338G>A c.1540G>A (p.Gly514Arg) c.1516G>A (p.Gly506Arg) n.176G>A c.1390G>A (p.Gly464Arg) | |
2 | g.230177609_230177620del | CA1334207185 | SP110 | c.902_913del (p.Val301_Lys304del) c.1511_1522del (p.Val504_Lys507del) c.1361_1372del (p.Val454_Lys457del) n.233_244del n.2327_2338del c.1529_1540del (p.Val510_Lys513del) c.1505_1516del (p.Val502_Lys505del) n.165_176del c.1379_1390del (p.Val460_Lys463del) | dbSNP |
2 | g.230177607T>A | CA2154476 | SP110 | c.912A>T (p.Lys304Asn) c.1521A>T (p.Lys507Asn) c.1371A>T (p.Lys457Asn) n.243A>T n.2337A>T c.1539A>T (p.Lys513Asn) c.1515A>T (p.Lys505Asn) n.175A>T c.1389A>T (p.Lys463Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.230177607T>C | CA431539841 | SP110 | c.912A>G (p.Lys304=) c.1521A>G (p.Lys507=) c.1371A>G (p.Lys457=) n.243A>G n.2337A>G c.1539A>G (p.Lys513=) c.1515A>G (p.Lys505=) n.175A>G c.1389A>G (p.Lys463=) | COSMIC |
2 | g.230177607T>G | CA350903227 | SP110 | c.912A>C (p.Lys304Asn) c.1521A>C (p.Lys507Asn) c.1371A>C (p.Lys457Asn) n.243A>C n.2337A>C c.1539A>C (p.Lys513Asn) c.1515A>C (p.Lys505Asn) n.175A>C c.1389A>C (p.Lys463Asn) | |
2 | g.230177607T= | CA1334207186 | SP110 | c.912A= (p.Lys304=) c.1521A= (p.Lys507=) c.1371A= (p.Lys457=) n.243A= n.2337A= c.1539A= (p.Lys513=) c.1515A= (p.Lys505=) n.175A= c.1389A= (p.Lys463=) | |
2 | g.230177608T>A | CA350903228 | SP110 | c.911A>T (p.Lys304Ile) c.1520A>T (p.Lys507Ile) c.1370A>T (p.Lys457Ile) n.242A>T n.2336A>T c.1538A>T (p.Lys513Ile) c.1514A>T (p.Lys505Ile) n.174A>T c.1388A>T (p.Lys463Ile) | |
2 | g.230177608T>C | CA350903230 | SP110 | c.911A>G (p.Lys304Arg) c.1520A>G (p.Lys507Arg) c.1370A>G (p.Lys457Arg) n.242A>G n.2336A>G c.1538A>G (p.Lys513Arg) c.1514A>G (p.Lys505Arg) n.174A>G c.1388A>G (p.Lys463Arg) | |
2 | g.230177608T>G | CA350903229 | SP110 | c.911A>C (p.Lys304Thr) c.1520A>C (p.Lys507Thr) c.1370A>C (p.Lys457Thr) n.242A>C n.2336A>C c.1538A>C (p.Lys513Thr) c.1514A>C (p.Lys505Thr) n.174A>C c.1388A>C (p.Lys463Thr) | |
2 | g.230177609T>A | CA350903231 | SP110 | c.910A>T (p.Lys304Ter) c.1519A>T (p.Lys507Ter) c.1369A>T (p.Lys457Ter) n.241A>T n.2335A>T c.1537A>T (p.Lys513Ter) c.1513A>T (p.Lys505Ter) n.173A>T c.1387A>T (p.Lys463Ter) | |
2 | g.230177609T>C | CA2154477 | SP110 | c.910A>G (p.Lys304Glu) c.1519A>G (p.Lys507Glu) c.1369A>G (p.Lys457Glu) n.241A>G n.2335A>G c.1537A>G (p.Lys513Glu) c.1513A>G (p.Lys505Glu) n.173A>G c.1387A>G (p.Lys463Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.230177609T>G | CA350903232 | SP110 | c.910A>C (p.Lys304Gln) c.1519A>C (p.Lys507Gln) c.1369A>C (p.Lys457Gln) n.241A>C n.2335A>C c.1537A>C (p.Lys513Gln) c.1513A>C (p.Lys505Gln) n.173A>C c.1387A>C (p.Lys463Gln) | |
2 | g.230177609T= | CA1334207187 | SP110 | c.910A= (p.Lys304=) c.1519A= (p.Lys507=) c.1369A= (p.Lys457=) n.241A= n.2335A= c.1537A= (p.Lys513=) c.1513A= (p.Lys505=) n.173A= c.1387A= (p.Lys463=) | |
2 | g.230177610T>A | CA431539846 | SP110 | c.909A>T (p.Gly303=) c.1518A>T (p.Gly506=) c.1368A>T (p.Gly456=) n.240A>T n.2334A>T c.1536A>T (p.Gly512=) c.1512A>T (p.Gly504=) n.172A>T c.1386A>T (p.Gly462=) | |
2 | g.230177610T>C | CA431539844 | SP110 | c.909A>G (p.Gly303=) c.1518A>G (p.Gly506=) c.1368A>G (p.Gly456=) n.240A>G n.2334A>G c.1536A>G (p.Gly512=) c.1512A>G (p.Gly504=) n.172A>G c.1386A>G (p.Gly462=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.230177610T>G | CA431539845 | SP110 | c.909A>C (p.Gly303=) c.1518A>C (p.Gly506=) c.1368A>C (p.Gly456=) n.240A>C n.2334A>C c.1536A>C (p.Gly512=) c.1512A>C (p.Gly504=) n.172A>C c.1386A>C (p.Gly462=) | |
2 | g.230177610T= | CA1334207188 | SP110 | c.909A= (p.Gly303=) c.1518A= (p.Gly506=) c.1368A= (p.Gly456=) n.240A= n.2334A= c.1536A= (p.Gly512=) c.1512A= (p.Gly504=) n.172A= c.1386A= (p.Gly462=) | |
2 | g.230177611C>A | CA350903233 | SP110 | c.908G>T (p.Gly303Val) c.1517G>T (p.Gly506Val) c.1367G>T (p.Gly456Val) n.239G>T n.2333G>T c.1535G>T (p.Gly512Val) c.1511G>T (p.Gly504Val) n.171G>T c.1385G>T (p.Gly462Val) | |
2 | g.230177611C>G | CA350903235 | SP110 | c.908G>C (p.Gly303Ala) c.1517G>C (p.Gly506Ala) c.1367G>C (p.Gly456Ala) n.239G>C n.2333G>C c.1535G>C (p.Gly512Ala) c.1511G>C (p.Gly504Ala) n.171G>C c.1385G>C (p.Gly462Ala) | |
2 | g.230177611C>T | CA350903234 | SP110 | c.908G>A (p.Gly303Glu) c.1517G>A (p.Gly506Glu) c.1367G>A (p.Gly456Glu) n.239G>A n.2333G>A c.1535G>A (p.Gly512Glu) c.1511G>A (p.Gly504Glu) n.171G>A c.1385G>A (p.Gly462Glu) | |
2 | g.230177612C>A | CA350903236 | SP110 | c.907G>T (p.Gly303Ter) c.1516G>T (p.Gly506Ter) c.1366G>T (p.Gly456Ter) n.238G>T n.2332G>T c.1534G>T (p.Gly512Ter) c.1510G>T (p.Gly504Ter) n.170G>T c.1384G>T (p.Gly462Ter) | |
2 | g.230177612C>G | CA350903237 | SP110 | c.907G>C (p.Gly303Arg) c.1516G>C (p.Gly506Arg) c.1366G>C (p.Gly456Arg) n.238G>C n.2332G>C c.1534G>C (p.Gly512Arg) c.1510G>C (p.Gly504Arg) n.170G>C c.1384G>C (p.Gly462Arg) | |
2 | g.230177612C>T | CA350903238 | SP110 | c.907G>A (p.Gly303Arg) c.1516G>A (p.Gly506Arg) c.1366G>A (p.Gly456Arg) n.238G>A n.2332G>A c.1534G>A (p.Gly512Arg) c.1510G>A (p.Gly504Arg) n.170G>A c.1384G>A (p.Gly462Arg) | |
2 | g.230177613T>A | CA350903239 | SP110 | c.906A>T (p.Glu302Asp) c.1515A>T (p.Glu505Asp) c.1365A>T (p.Glu455Asp) n.237A>T n.2331A>T c.1533A>T (p.Glu511Asp) c.1509A>T (p.Glu503Asp) n.169A>T c.1383A>T (p.Glu461Asp) | |
2 | g.230177613T>C | CA431539847 | SP110 | c.906A>G (p.Glu302=) c.1515A>G (p.Glu505=) c.1365A>G (p.Glu455=) n.237A>G n.2331A>G c.1533A>G (p.Glu511=) c.1509A>G (p.Glu503=) n.169A>G c.1383A>G (p.Glu461=) | |
2 | g.230177613T>G | CA350903240 | SP110 | c.906A>C (p.Glu302Asp) c.1515A>C (p.Glu505Asp) c.1365A>C (p.Glu455Asp) n.237A>C n.2331A>C c.1533A>C (p.Glu511Asp) c.1509A>C (p.Glu503Asp) n.169A>C c.1383A>C (p.Glu461Asp) | |
2 | g.230177614T>A | CA350903241 | SP110 | c.905A>T (p.Glu302Val) c.1514A>T (p.Glu505Val) c.1364A>T (p.Glu455Val) n.236A>T n.2330A>T c.1532A>T (p.Glu511Val) c.1508A>T (p.Glu503Val) n.168A>T c.1382A>T (p.Glu461Val) | |
2 | g.230177614T>C | CA350903242 | SP110 | c.905A>G (p.Glu302Gly) c.1514A>G (p.Glu505Gly) c.1364A>G (p.Glu455Gly) n.236A>G n.2330A>G c.1532A>G (p.Glu511Gly) c.1508A>G (p.Glu503Gly) n.168A>G c.1382A>G (p.Glu461Gly) | |
2 | g.230177614T>G | CA350903243 | SP110 | c.905A>C (p.Glu302Ala) c.1514A>C (p.Glu505Ala) c.1364A>C (p.Glu455Ala) n.236A>C n.2330A>C c.1532A>C (p.Glu511Ala) c.1508A>C (p.Glu503Ala) n.168A>C c.1382A>C (p.Glu461Ala) | |
2 | g.230177615C>A | CA350903244 | SP110 | c.904G>T (p.Glu302Ter) c.1513G>T (p.Glu505Ter) c.1363G>T (p.Glu455Ter) n.235G>T n.2329G>T c.1531G>T (p.Glu511Ter) c.1507G>T (p.Glu503Ter) n.167G>T c.1381G>T (p.Glu461Ter) | |
2 | g.230177615C= | CA1334207189 | SP110 | c.904G= (p.Glu302=) c.1513G= (p.Glu505=) c.1363G= (p.Glu455=) n.235G= n.2329G= c.1531G= (p.Glu511=) c.1507G= (p.Glu503=) n.167G= c.1381G= (p.Glu461=) | |
2 | g.230177615C>G | CA350903245 | SP110 | c.904G>C (p.Glu302Gln) c.1513G>C (p.Glu505Gln) c.1363G>C (p.Glu455Gln) n.235G>C n.2329G>C c.1531G>C (p.Glu511Gln) c.1507G>C (p.Glu503Gln) n.167G>C c.1381G>C (p.Glu461Gln) | |
2 | g.230177615C>T | CA66735159 | SP110 | c.904G>A (p.Glu302Lys) c.1513G>A (p.Glu505Lys) c.1363G>A (p.Glu455Lys) n.235G>A n.2329G>A c.1531G>A (p.Glu511Lys) c.1507G>A (p.Glu503Lys) n.167G>A c.1381G>A (p.Glu461Lys) | dbSNP gnomAD v4 |
2 | g.230177616G>A | CA2154478 | SP110 | c.903C>T (p.Val301=) c.1512C>T (p.Val504=) c.1362C>T (p.Val454=) n.234C>T n.2328C>T c.1530C>T (p.Val510=) c.1506C>T (p.Val502=) n.166C>T c.1380C>T (p.Val460=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.230177616G>C | CA431539848 | SP110 | c.903C>G (p.Val301=) c.1512C>G (p.Val504=) c.1362C>G (p.Val454=) n.234C>G n.2328C>G c.1530C>G (p.Val510=) c.1506C>G (p.Val502=) n.166C>G c.1380C>G (p.Val460=) | |
2 | g.230177616G= | CA1334207190 | SP110 | c.903C= (p.Val301=) c.1512C= (p.Val504=) c.1362C= (p.Val454=) n.234C= n.2328C= c.1530C= (p.Val510=) c.1506C= (p.Val502=) n.166C= c.1380C= (p.Val460=) | |
2 | g.230177616G>T | CA431539849 | SP110 | c.903C>A (p.Val301=) c.1512C>A (p.Val504=) c.1362C>A (p.Val454=) n.234C>A n.2328C>A c.1530C>A (p.Val510=) c.1506C>A (p.Val502=) n.166C>A c.1380C>A (p.Val460=) | |
2 | g.230177617A>C | CA350903248 | SP110 | c.902T>G (p.Val301Gly) c.1511T>G (p.Val504Gly) c.1361T>G (p.Val454Gly) n.233T>G n.2327T>G c.1529T>G (p.Val510Gly) c.1505T>G (p.Val502Gly) n.165T>G c.1379T>G (p.Val460Gly) | |
2 | g.230177617A>G | CA350903246 | SP110 | c.902T>C (p.Val301Ala) c.1511T>C (p.Val504Ala) c.1361T>C (p.Val454Ala) n.233T>C n.2327T>C c.1529T>C (p.Val510Ala) c.1505T>C (p.Val502Ala) n.165T>C c.1379T>C (p.Val460Ala) | |
2 | g.230177617A>T | CA350903247 | SP110 | c.902T>A (p.Val301Asp) c.1511T>A (p.Val504Asp) c.1361T>A (p.Val454Asp) n.233T>A n.2327T>A c.1529T>A (p.Val510Asp) c.1505T>A (p.Val502Asp) n.165T>A c.1379T>A (p.Val460Asp) | |
2 | g.230177618C>A | CA350903249 | SP110 | c.901G>T (p.Val301Phe) c.1510G>T (p.Val504Phe) c.1360G>T (p.Val454Phe) n.232G>T n.2326G>T c.1528G>T (p.Val510Phe) c.1504G>T (p.Val502Phe) n.164G>T c.1378G>T (p.Val460Phe) | |
2 | g.230177618C>G | CA350903250 | SP110 | c.901G>C (p.Val301Leu) c.1510G>C (p.Val504Leu) c.1360G>C (p.Val454Leu) n.232G>C n.2326G>C c.1528G>C (p.Val510Leu) c.1504G>C (p.Val502Leu) n.164G>C c.1378G>C (p.Val460Leu) | |
2 | g.230177618C>T | CA350903251 | SP110 | c.901G>A (p.Val301Ile) c.1510G>A (p.Val504Ile) c.1360G>A (p.Val454Ile) n.232G>A n.2326G>A c.1528G>A (p.Val510Ile) c.1504G>A (p.Val502Ile) n.164G>A c.1378G>A (p.Val460Ile) | |
2 | g.230177619T>A | CA350903252 | SP110 | c.900A>T (p.Glu300Asp) c.1509A>T (p.Glu503Asp) c.1359A>T (p.Glu453Asp) n.231A>T n.2325A>T c.1527A>T (p.Glu509Asp) c.1503A>T (p.Glu501Asp) n.163A>T c.1377A>T (p.Glu459Asp) | gnomAD v4 |
2 | g.230177619T>C | CA431539850 | SP110 | c.900A>G (p.Glu300=) c.1509A>G (p.Glu503=) c.1359A>G (p.Glu453=) n.231A>G n.2325A>G c.1527A>G (p.Glu509=) c.1503A>G (p.Glu501=) n.163A>G c.1377A>G (p.Glu459=) | |
2 | g.230177619T>G | CA350903253 | SP110 | c.900A>C (p.Glu300Asp) c.1509A>C (p.Glu503Asp) c.1359A>C (p.Glu453Asp) n.231A>C n.2325A>C c.1527A>C (p.Glu509Asp) c.1503A>C (p.Glu501Asp) n.163A>C c.1377A>C (p.Glu459Asp) | |
2 | g.230177620T>A | CA350903254 | SP110 | c.899A>T (p.Glu300Val) c.1508A>T (p.Glu503Val) c.1358A>T (p.Glu453Val) n.230A>T n.2324A>T c.1526A>T (p.Glu509Val) c.1502A>T (p.Glu501Val) n.162A>T c.1376A>T (p.Glu459Val) | |
2 | g.230177620T>C | CA350903255 | SP110 | c.899A>G (p.Glu300Gly) c.1508A>G (p.Glu503Gly) c.1358A>G (p.Glu453Gly) n.230A>G n.2324A>G c.1526A>G (p.Glu509Gly) c.1502A>G (p.Glu501Gly) n.162A>G c.1376A>G (p.Glu459Gly) | gnomAD v4 |
2 | g.230177620T>G | CA350903256 | SP110 | c.899A>C (p.Glu300Ala) c.1508A>C (p.Glu503Ala) c.1358A>C (p.Glu453Ala) n.230A>C n.2324A>C c.1526A>C (p.Glu509Ala) c.1502A>C (p.Glu501Ala) n.162A>C c.1376A>C (p.Glu459Ala) | |
2 | g.230177621C>A | CA350903257 | SP110 | c.898G>T (p.Glu300Ter) c.1507G>T (p.Glu503Ter) c.1357G>T (p.Glu453Ter) n.229G>T n.2323G>T c.1525G>T (p.Glu509Ter) c.1501G>T (p.Glu501Ter) n.161G>T c.1375G>T (p.Glu459Ter) | |
2 | g.230177621C= | CA1334207191 | SP110 | c.898G= (p.Glu300=) c.1507G= (p.Glu503=) c.1357G= (p.Glu453=) n.229G= n.2323G= c.1525G= (p.Glu509=) c.1501G= (p.Glu501=) n.161G= c.1375G= (p.Glu459=) | |
2 | g.230177621C>G | CA66735178 | SP110 | c.898G>C (p.Glu300Gln) c.1507G>C (p.Glu503Gln) c.1357G>C (p.Glu453Gln) n.229G>C n.2323G>C c.1525G>C (p.Glu509Gln) c.1501G>C (p.Glu501Gln) n.161G>C c.1375G>C (p.Glu459Gln) | dbSNP gnomAD v4 |
2 | g.230177621C>T | CA350903258 | SP110 | c.898G>A (p.Glu300Lys) c.1507G>A (p.Glu503Lys) c.1357G>A (p.Glu453Lys) n.229G>A n.2323G>A c.1525G>A (p.Glu509Lys) c.1501G>A (p.Glu501Lys) n.161G>A c.1375G>A (p.Glu459Lys) | |
2 | g.230177622A= | CA1334207192 | SP110 | c.897T= (p.Phe299=) c.1506T= (p.Phe502=) c.1356T= (p.Phe452=) n.228T= n.2322T= c.1524T= (p.Phe508=) c.1500T= (p.Phe500=) n.160T= c.1374T= (p.Phe458=) | |
2 | g.230177622A>C | CA350903259 | SP110 | c.897T>G (p.Phe299Leu) c.1506T>G (p.Phe502Leu) c.1356T>G (p.Phe452Leu) n.228T>G n.2322T>G c.1524T>G (p.Phe508Leu) c.1500T>G (p.Phe500Leu) n.160T>G c.1374T>G (p.Phe458Leu) | dbSNP gnomAD v4 |
2 | g.230177622A>G | CA431539851 | SP110 | c.897T>C (p.Phe299=) c.1506T>C (p.Phe502=) c.1356T>C (p.Phe452=) n.228T>C n.2322T>C c.1524T>C (p.Phe508=) c.1500T>C (p.Phe500=) n.160T>C c.1374T>C (p.Phe458=) | |
2 | g.230177622A>T | CA350903260 | SP110 | c.897T>A (p.Phe299Leu) c.1506T>A (p.Phe502Leu) c.1356T>A (p.Phe452Leu) n.228T>A n.2322T>A c.1524T>A (p.Phe508Leu) c.1500T>A (p.Phe500Leu) n.160T>A c.1374T>A (p.Phe458Leu) | |
2 | g.230177623A= | CA1334207193 | SP110 | c.896T= (p.Phe299=) c.1505T= (p.Phe502=) c.1355T= (p.Phe452=) n.227T= n.2321T= c.1523T= (p.Phe508=) c.1499T= (p.Phe500=) n.159T= c.1373T= (p.Phe458=) | |
2 | g.230177623A>C | CA66735187 | SP110 | c.896T>G (p.Phe299Cys) c.1505T>G (p.Phe502Cys) c.1355T>G (p.Phe452Cys) n.227T>G n.2321T>G c.1523T>G (p.Phe508Cys) c.1499T>G (p.Phe500Cys) n.159T>G c.1373T>G (p.Phe458Cys) | dbSNP gnomAD v4 |
2 | g.230177623A>G | CA350903261 | SP110 | c.896T>C (p.Phe299Ser) c.1505T>C (p.Phe502Ser) c.1355T>C (p.Phe452Ser) n.227T>C n.2321T>C c.1523T>C (p.Phe508Ser) c.1499T>C (p.Phe500Ser) n.159T>C c.1373T>C (p.Phe458Ser) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.230177623A>T | CA350903262 | SP110 | c.896T>A (p.Phe299Tyr) c.1505T>A (p.Phe502Tyr) c.1355T>A (p.Phe452Tyr) n.227T>A n.2321T>A c.1523T>A (p.Phe508Tyr) c.1499T>A (p.Phe500Tyr) n.159T>A c.1373T>A (p.Phe458Tyr) | gnomAD v4 |
2 | g.230177624A= | CA1334207194 | SP110 | c.895T= (p.Phe299=) c.1504T= (p.Phe502=) c.1354T= (p.Phe452=) n.226T= n.2320T= c.1522T= (p.Phe508=) c.1498T= (p.Phe500=) n.158T= c.1372T= (p.Phe458=) | |
2 | g.230177624A>C | CA350903263 | SP110 | c.895T>G (p.Phe299Val) c.1504T>G (p.Phe502Val) c.1354T>G (p.Phe452Val) n.226T>G n.2320T>G c.1522T>G (p.Phe508Val) c.1498T>G (p.Phe500Val) n.158T>G c.1372T>G (p.Phe458Val) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.230177624A>G | CA350903264 | SP110 | c.895T>C (p.Phe299Leu) c.1504T>C (p.Phe502Leu) c.1354T>C (p.Phe452Leu) n.226T>C n.2320T>C c.1522T>C (p.Phe508Leu) c.1498T>C (p.Phe500Leu) n.158T>C c.1372T>C (p.Phe458Leu) | |
2 | g.230177624A>T | CA350903265 | SP110 | c.895T>A (p.Phe299Ile) c.1504T>A (p.Phe502Ile) c.1354T>A (p.Phe452Ile) n.226T>A n.2320T>A c.1522T>A (p.Phe508Ile) c.1498T>A (p.Phe500Ile) n.158T>A c.1372T>A (p.Phe458Ile) | |
2 | g.230177625T>A | CA350903266 | SP110 | c.894A>T (p.Glu298Asp) c.1503A>T (p.Glu501Asp) c.1353A>T (p.Glu451Asp) n.225A>T n.2319A>T c.1521A>T (p.Glu507Asp) c.1497A>T (p.Glu499Asp) n.157A>T c.1371A>T (p.Glu457Asp) | |
2 | g.230177625T>C | CA431539852 | SP110 | c.894A>G (p.Glu298=) c.1503A>G (p.Glu501=) c.1353A>G (p.Glu451=) n.225A>G n.2319A>G c.1521A>G (p.Glu507=) c.1497A>G (p.Glu499=) n.157A>G c.1371A>G (p.Glu457=) | |
2 | g.230177625T>G | CA350903267 | SP110 | c.894A>C (p.Glu298Asp) c.1503A>C (p.Glu501Asp) c.1353A>C (p.Glu451Asp) n.225A>C n.2319A>C c.1521A>C (p.Glu507Asp) c.1497A>C (p.Glu499Asp) n.157A>C c.1371A>C (p.Glu457Asp) | |
2 | g.230177626T>A | CA350903268 | SP110 | c.893A>T (p.Glu298Val) c.1502A>T (p.Glu501Val) c.1352A>T (p.Glu451Val) n.224A>T n.2318A>T c.1520A>T (p.Glu507Val) c.1496A>T (p.Glu499Val) n.156A>T c.1370A>T (p.Glu457Val) | |
2 | g.230177626T>C | CA350903269 | SP110 | c.893A>G (p.Glu298Gly) c.1502A>G (p.Glu501Gly) c.1352A>G (p.Glu451Gly) n.224A>G n.2318A>G c.1520A>G (p.Glu507Gly) c.1496A>G (p.Glu499Gly) n.156A>G c.1370A>G (p.Glu457Gly) | ClinVar dbSNP gnomAD v4 |
2 | g.230177626T>G | CA350903270 | SP110 | c.893A>C (p.Glu298Ala) c.1502A>C (p.Glu501Ala) c.1352A>C (p.Glu451Ala) n.224A>C n.2318A>C c.1520A>C (p.Glu507Ala) c.1496A>C (p.Glu499Ala) n.156A>C c.1370A>C (p.Glu457Ala) | |
2 | g.230177626T= | CA1334207195 | SP110 | c.893A= (p.Glu298=) c.1502A= (p.Glu501=) c.1352A= (p.Glu451=) n.224A= n.2318A= c.1520A= (p.Glu507=) c.1496A= (p.Glu499=) n.156A= c.1370A= (p.Glu457=) | |
2 | g.230177627C>A | CA350903271 | SP110 | c.892G>T (p.Glu298Ter) c.1501G>T (p.Glu501Ter) c.1351G>T (p.Glu451Ter) n.223G>T n.2317G>T c.1519G>T (p.Glu507Ter) c.1495G>T (p.Glu499Ter) n.155G>T c.1369G>T (p.Glu457Ter) | |
2 | g.230177627C>G | CA350903272 | SP110 | c.892G>C (p.Glu298Gln) c.1501G>C (p.Glu501Gln) c.1351G>C (p.Glu451Gln) n.223G>C n.2317G>C c.1519G>C (p.Glu507Gln) c.1495G>C (p.Glu499Gln) n.155G>C c.1369G>C (p.Glu457Gln) | |
2 | g.230177627C>T | CA350903273 | SP110 | c.892G>A (p.Glu298Lys) c.1501G>A (p.Glu501Lys) c.1351G>A (p.Glu451Lys) n.223G>A n.2317G>A c.1519G>A (p.Glu507Lys) c.1495G>A (p.Glu499Lys) n.155G>A c.1369G>A (p.Glu457Lys) | |
2 | g.230177628A>C | CA350903274 | SP110 | c.891T>G (p.Asn297Lys) c.1500T>G (p.Asn500Lys) c.1350T>G (p.Asn450Lys) n.222T>G n.2316T>G c.1518T>G (p.Asn506Lys) c.1494T>G (p.Asn498Lys) n.154T>G c.1368T>G (p.Asn456Lys) | |
2 | g.230177628A>G | CA431539854 | SP110 | c.891T>C (p.Asn297=) c.1500T>C (p.Asn500=) c.1350T>C (p.Asn450=) n.222T>C n.2316T>C c.1518T>C (p.Asn506=) c.1494T>C (p.Asn498=) n.154T>C c.1368T>C (p.Asn456=) | dbSNP |
2 | g.230177628A>T | CA350903275 | SP110 | c.891T>A (p.Asn297Lys) c.1500T>A (p.Asn500Lys) c.1350T>A (p.Asn450Lys) n.222T>A n.2316T>A c.1518T>A (p.Asn506Lys) c.1494T>A (p.Asn498Lys) n.154T>A c.1368T>A (p.Asn456Lys) | |
2 | g.230177629T>A | CA350903276 | SP110 | c.890A>T (p.Asn297Ile) c.1499A>T (p.Asn500Ile) c.1349A>T (p.Asn450Ile) n.221A>T n.2315A>T c.1517A>T (p.Asn506Ile) c.1493A>T (p.Asn498Ile) n.153A>T c.1367A>T (p.Asn456Ile) | |
2 | g.230177629T>C | CA350903277 | SP110 | c.890A>G (p.Asn297Ser) c.1499A>G (p.Asn500Ser) c.1349A>G (p.Asn450Ser) n.221A>G n.2315A>G c.1517A>G (p.Asn506Ser) c.1493A>G (p.Asn498Ser) n.153A>G c.1367A>G (p.Asn456Ser) | |
2 | g.230177629T>G | CA350903278 | SP110 | c.890A>C (p.Asn297Thr) c.1499A>C (p.Asn500Thr) c.1349A>C (p.Asn450Thr) n.221A>C n.2315A>C c.1517A>C (p.Asn506Thr) c.1493A>C (p.Asn498Thr) n.153A>C c.1367A>C (p.Asn456Thr) | |
2 | g.230177630T>A | CA350903279 | SP110 | c.889A>T (p.Asn297Tyr) c.1498A>T (p.Asn500Tyr) c.1348A>T (p.Asn450Tyr) n.220A>T n.2314A>T c.1516A>T (p.Asn506Tyr) c.1492A>T (p.Asn498Tyr) n.152A>T c.1366A>T (p.Asn456Tyr) | |
2 | g.230177630T>C | CA350903280 | SP110 | c.889A>G (p.Asn297Asp) c.1498A>G (p.Asn500Asp) c.1348A>G (p.Asn450Asp) n.220A>G n.2314A>G c.1516A>G (p.Asn506Asp) c.1492A>G (p.Asn498Asp) n.152A>G c.1366A>G (p.Asn456Asp) | dbSNP |
2 | g.230177630T>G | CA2154479 | SP110 | c.889A>C (p.Asn297His) c.1498A>C (p.Asn500His) c.1348A>C (p.Asn450His) n.220A>C n.2314A>C c.1516A>C (p.Asn506His) c.1492A>C (p.Asn498His) n.152A>C c.1366A>C (p.Asn456His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.230177630T= | CA1334207196 | SP110 | c.889A= (p.Asn297=) c.1498A= (p.Asn500=) c.1348A= (p.Asn450=) n.220A= n.2314A= c.1516A= (p.Asn506=) c.1492A= (p.Asn498=) n.152A= c.1366A= (p.Asn456=) | |
2 | g.230177631T>A | CA431539856 | SP110 | c.888A>T (p.Pro296=) c.1497A>T (p.Pro499=) c.1347A>T (p.Pro449=) n.219A>T n.2313A>T c.1515A>T (p.Pro505=) c.1491A>T (p.Pro497=) n.151A>T c.1365A>T (p.Pro455=) | |
2 | g.230177631T>C | CA431539857 | SP110 | c.888A>G (p.Pro296=) c.1497A>G (p.Pro499=) c.1347A>G (p.Pro449=) n.219A>G n.2313A>G c.1515A>G (p.Pro505=) c.1491A>G (p.Pro497=) n.151A>G c.1365A>G (p.Pro455=) | |
2 | g.230177631T>G | CA431539858 | SP110 | c.888A>C (p.Pro296=) c.1497A>C (p.Pro499=) c.1347A>C (p.Pro449=) n.219A>C n.2313A>C c.1515A>C (p.Pro505=) c.1491A>C (p.Pro497=) n.151A>C c.1365A>C (p.Pro455=) | |
2 | g.230177632G>A | CA350903281 | SP110 | c.887C>T (p.Pro296Leu) c.1496C>T (p.Pro499Leu) c.1346C>T (p.Pro449Leu) n.218C>T n.2312C>T c.1514C>T (p.Pro505Leu) c.1490C>T (p.Pro497Leu) n.150C>T c.1364C>T (p.Pro455Leu) | |
2 | g.230177632G>C | CA350903282 | SP110 | c.887C>G (p.Pro296Arg) c.1496C>G (p.Pro499Arg) c.1346C>G (p.Pro449Arg) n.218C>G n.2312C>G c.1514C>G (p.Pro505Arg) c.1490C>G (p.Pro497Arg) n.150C>G c.1364C>G (p.Pro455Arg) | |
2 | g.230177632G>T | CA350903283 | SP110 | c.887C>A (p.Pro296Gln) c.1496C>A (p.Pro499Gln) c.1346C>A (p.Pro449Gln) n.218C>A n.2312C>A c.1514C>A (p.Pro505Gln) c.1490C>A (p.Pro497Gln) n.150C>A c.1364C>A (p.Pro455Gln) | |
2 | g.230177633G>A | CA350903284 | SP110 | c.886C>T (p.Pro296Ser) c.1495C>T (p.Pro499Ser) c.1345C>T (p.Pro449Ser) n.217C>T n.2311C>T c.1513C>T (p.Pro505Ser) c.1489C>T (p.Pro497Ser) n.149C>T c.1363C>T (p.Pro455Ser) | |
2 | g.230177633G>C | CA350903285 | SP110 | c.886C>G (p.Pro296Ala) c.1495C>G (p.Pro499Ala) c.1345C>G (p.Pro449Ala) n.217C>G n.2311C>G c.1513C>G (p.Pro505Ala) c.1489C>G (p.Pro497Ala) n.149C>G c.1363C>G (p.Pro455Ala) | |
2 | g.230177633G>T | CA350903286 | SP110 | c.886C>A (p.Pro296Thr) c.1495C>A (p.Pro499Thr) c.1345C>A (p.Pro449Thr) n.217C>A n.2311C>A c.1513C>A (p.Pro505Thr) c.1489C>A (p.Pro497Thr) n.149C>A c.1363C>A (p.Pro455Thr) | |
2 | g.230177634T>A | CA431539859 | SP110 | c.885A>T (p.Thr295=) c.1494A>T (p.Thr498=) c.1344A>T (p.Thr448=) n.216A>T n.2310A>T c.1512A>T (p.Thr504=) c.1488A>T (p.Thr496=) n.148A>T c.1362A>T (p.Thr454=) | |
2 | g.230177634T>C | CA431539860 | SP110 | c.885A>G (p.Thr295=) c.1494A>G (p.Thr498=) c.1344A>G (p.Thr448=) n.216A>G n.2310A>G c.1512A>G (p.Thr504=) c.1488A>G (p.Thr496=) n.148A>G c.1362A>G (p.Thr454=) | |
2 | g.230177634T>G | CA431539861 | SP110 | c.885A>C (p.Thr295=) c.1494A>C (p.Thr498=) c.1344A>C (p.Thr448=) n.216A>C n.2310A>C c.1512A>C (p.Thr504=) c.1488A>C (p.Thr496=) n.148A>C c.1362A>C (p.Thr454=) | |
2 | g.230177635G>A | CA350903289 | SP110 | c.884C>T (p.Thr295Ile) c.1493C>T (p.Thr498Ile) c.1343C>T (p.Thr448Ile) n.215C>T n.2309C>T c.1511C>T (p.Thr504Ile) c.1487C>T (p.Thr496Ile) n.147C>T c.1361C>T (p.Thr454Ile) | |
2 | g.230177635G>C | CA350903288 | SP110 | c.884C>G (p.Thr295Arg) c.1493C>G (p.Thr498Arg) c.1343C>G (p.Thr448Arg) n.215C>G n.2309C>G c.1511C>G (p.Thr504Arg) c.1487C>G (p.Thr496Arg) n.147C>G c.1361C>G (p.Thr454Arg) | |
2 | g.230177635G>T | CA350903287 | SP110 | c.884C>A (p.Thr295Lys) c.1493C>A (p.Thr498Lys) c.1343C>A (p.Thr448Lys) n.215C>A n.2309C>A c.1511C>A (p.Thr504Lys) c.1487C>A (p.Thr496Lys) n.147C>A c.1361C>A (p.Thr454Lys) | gnomAD v4 |
2 | g.230177637_230177638insGGTT | CA2663486857 | SP110 | c.884_885insCAAC (p.Pro296AsnfsTer4) c.1493_1494insCAAC (p.Pro499AsnfsTer4) c.1343_1344insCAAC (p.Pro449AsnfsTer4) n.215_216insCAAC n.2309_2310insCAAC c.1511_1512insCAAC (p.Pro505AsnfsTer4) c.1487_1488insCAAC (p.Pro497AsnfsTer4) n.147_148insCAAC c.1361_1362insCAAC (p.Pro455AsnfsTer4) | gnomAD v4 |
2 | g.230177636T>A | CA350903291 | SP110 | c.883A>T (p.Thr295Ser) c.1492A>T (p.Thr498Ser) c.1342A>T (p.Thr448Ser) n.214A>T n.2308A>T c.1510A>T (p.Thr504Ser) c.1486A>T (p.Thr496Ser) n.146A>T c.1360A>T (p.Thr454Ser) | |
2 | g.230177636T>C | CA350903290 | SP110 | c.883A>G (p.Thr295Ala) c.1492A>G (p.Thr498Ala) c.1342A>G (p.Thr448Ala) n.214A>G n.2308A>G c.1510A>G (p.Thr504Ala) c.1486A>G (p.Thr496Ala) n.146A>G c.1360A>G (p.Thr454Ala) | gnomAD v4 |
2 | g.230177636T>G | CA350903292 | SP110 | c.883A>C (p.Thr295Pro) c.1492A>C (p.Thr498Pro) c.1342A>C (p.Thr448Pro) n.214A>C n.2308A>C c.1510A>C (p.Thr504Pro) c.1486A>C (p.Thr496Pro) n.146A>C c.1360A>C (p.Thr454Pro) | |
2 | g.230177637T>A | CA350903293 | SP110 | c.882A>T (p.Leu294Phe) c.1491A>T (p.Leu497Phe) c.1341A>T (p.Leu447Phe) n.213A>T n.2307A>T c.1509A>T (p.Leu503Phe) c.1485A>T (p.Leu495Phe) n.145A>T c.1359A>T (p.Leu453Phe) | |
2 | g.230177637T>C | CA66735192 | SP110 | c.882A>G (p.Leu294=) c.1491A>G (p.Leu497=) c.1341A>G (p.Leu447=) n.213A>G n.2307A>G c.1509A>G (p.Leu503=) c.1485A>G (p.Leu495=) n.145A>G c.1359A>G (p.Leu453=) | dbSNP |
2 | g.230177637T>G | CA350903294 | SP110 | c.882A>C (p.Leu294Phe) c.1491A>C (p.Leu497Phe) c.1341A>C (p.Leu447Phe) n.213A>C n.2307A>C c.1509A>C (p.Leu503Phe) c.1485A>C (p.Leu495Phe) n.145A>C c.1359A>C (p.Leu453Phe) | |
2 | g.230177637T= | CA1334207197 | SP110 | c.882A= (p.Leu294=) c.1491A= (p.Leu497=) c.1341A= (p.Leu447=) n.213A= n.2307A= c.1509A= (p.Leu503=) c.1485A= (p.Leu495=) n.145A= c.1359A= (p.Leu453=) | |
2 | g.230177638A>C | CA350903295 | SP110 | c.881T>G (p.Leu294Ter) c.1490T>G (p.Leu497Ter) c.1340T>G (p.Leu447Ter) n.212T>G n.2306T>G c.1508T>G (p.Leu503Ter) c.1484T>G (p.Leu495Ter) n.144T>G c.1358T>G (p.Leu453Ter) | |
2 | g.230177638A>G | CA350903296 | SP110 | c.881T>C (p.Leu294Ser) c.1490T>C (p.Leu497Ser) c.1340T>C (p.Leu447Ser) n.212T>C n.2306T>C c.1508T>C (p.Leu503Ser) c.1484T>C (p.Leu495Ser) n.144T>C c.1358T>C (p.Leu453Ser) | |
2 | g.230177638A>T | CA350903297 | SP110 | c.881T>A (p.Leu294Ter) c.1490T>A (p.Leu497Ter) c.1340T>A (p.Leu447Ter) n.212T>A n.2306T>A c.1508T>A (p.Leu503Ter) c.1484T>A (p.Leu495Ter) n.144T>A c.1358T>A (p.Leu453Ter) | |
2 | g.230177640_230177643del | CA2663486860 | SP110 | c.878_881del (p.Trp293Ter) c.1487_1490del (p.Trp496Ter) c.1337_1340del (p.Trp446Ter) n.209_212del n.2303_2306del c.1505_1508del (p.Trp502Ter) c.1481_1484del (p.Trp494Ter) n.141_144del c.1355_1358del (p.Trp452Ter) | gnomAD v4 |
2 | g.230177639A>C | CA350903298 | SP110 | c.880T>G (p.Leu294Val) c.1489T>G (p.Leu497Val) c.1339T>G (p.Leu447Val) n.211T>G n.2305T>G c.1507T>G (p.Leu503Val) c.1483T>G (p.Leu495Val) n.143T>G c.1357T>G (p.Leu453Val) | |
2 | g.230177639A>G | CA431539865 | SP110 | c.880T>C (p.Leu294=) c.1489T>C (p.Leu497=) c.1339T>C (p.Leu447=) n.211T>C n.2305T>C c.1507T>C (p.Leu503=) c.1483T>C (p.Leu495=) n.143T>C c.1357T>C (p.Leu453=) | |
2 | g.230177639A>T | CA350903299 | SP110 | c.880T>A (p.Leu294Ile) c.1489T>A (p.Leu497Ile) c.1339T>A (p.Leu447Ile) n.211T>A n.2305T>A c.1507T>A (p.Leu503Ile) c.1483T>A (p.Leu495Ile) n.143T>A c.1357T>A (p.Leu453Ile) | |
2 | g.230177640C>A | CA350903300 | SP110 | c.879G>T (p.Trp293Cys) c.1488G>T (p.Trp496Cys) c.1338G>T (p.Trp446Cys) n.210G>T n.2304G>T c.1506G>T (p.Trp502Cys) c.1482G>T (p.Trp494Cys) n.142G>T c.1356G>T (p.Trp452Cys) | |
2 | g.230177640C>G | CA350903301 | SP110 | c.879G>C (p.Trp293Cys) c.1488G>C (p.Trp496Cys) c.1338G>C (p.Trp446Cys) n.210G>C n.2304G>C c.1506G>C (p.Trp502Cys) c.1482G>C (p.Trp494Cys) n.142G>C c.1356G>C (p.Trp452Cys) | |
2 | g.230177640C>T | CA350903302 | SP110 | c.879G>A (p.Trp293Ter) c.1488G>A (p.Trp496Ter) c.1338G>A (p.Trp446Ter) n.210G>A n.2304G>A c.1506G>A (p.Trp502Ter) c.1482G>A (p.Trp494Ter) n.142G>A c.1356G>A (p.Trp452Ter) | gnomAD v4 |
2 | g.230177641C>A | CA350903303 | SP110 | c.878G>T (p.Trp293Leu) c.1487G>T (p.Trp496Leu) c.1337G>T (p.Trp446Leu) n.209G>T n.2303G>T c.1505G>T (p.Trp502Leu) c.1481G>T (p.Trp494Leu) n.141G>T c.1355G>T (p.Trp452Leu) | |
2 | g.230177641C= | CA1334207198 | SP110 | c.878G= (p.Trp293=) c.1487G= (p.Trp496=) c.1337G= (p.Trp446=) n.209G= n.2303G= c.1505G= (p.Trp502=) c.1481G= (p.Trp494=) n.141G= c.1355G= (p.Trp452=) | |
2 | g.230177641C>G | CA350903304 | SP110 | c.878G>C (p.Trp293Ser) c.1487G>C (p.Trp496Ser) c.1337G>C (p.Trp446Ser) n.209G>C n.2303G>C c.1505G>C (p.Trp502Ser) c.1481G>C (p.Trp494Ser) n.141G>C c.1355G>C (p.Trp452Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.230177641C>T | CA350903306 | SP110 | c.878G>A (p.Trp293Ter) c.1487G>A (p.Trp496Ter) c.1337G>A (p.Trp446Ter) n.209G>A n.2303G>A c.1505G>A (p.Trp502Ter) c.1481G>A (p.Trp494Ter) n.141G>A c.1355G>A (p.Trp452Ter) | |
2 | g.230177642A>C | CA350903310 | SP110 | c.877T>G (p.Trp293Gly) c.1486T>G (p.Trp496Gly) c.1336T>G (p.Trp446Gly) n.208T>G n.2302T>G c.1504T>G (p.Trp502Gly) c.1480T>G (p.Trp494Gly) n.140T>G c.1354T>G (p.Trp452Gly) | |
2 | g.230177642A>G | CA350903308 | SP110 | c.877T>C (p.Trp293Arg) c.1486T>C (p.Trp496Arg) c.1336T>C (p.Trp446Arg) n.208T>C n.2302T>C c.1504T>C (p.Trp502Arg) c.1480T>C (p.Trp494Arg) n.140T>C c.1354T>C (p.Trp452Arg) | |
2 | g.230177642A>T | CA350903309 | SP110 | c.877T>A (p.Trp293Arg) c.1486T>A (p.Trp496Arg) c.1336T>A (p.Trp446Arg) n.208T>A n.2302T>A c.1504T>A (p.Trp502Arg) c.1480T>A (p.Trp494Arg) n.140T>A c.1354T>A (p.Trp452Arg) | |
2 | g.230177643A= | CA1334207199 | SP110 | c.876T= (p.Thr292=) c.1485T= (p.Thr495=) c.1335T= (p.Thr445=) n.207T= n.2301T= c.1503T= (p.Thr501=) c.1479T= (p.Thr493=) n.139T= c.1353T= (p.Thr451=) | |
2 | g.230177643A>C | CA66735199 | SP110 | c.876T>G (p.Thr292=) c.1485T>G (p.Thr495=) c.1335T>G (p.Thr445=) n.207T>G n.2301T>G c.1503T>G (p.Thr501=) c.1479T>G (p.Thr493=) n.139T>G c.1353T>G (p.Thr451=) | ClinVar dbSNP gnomAD v4 |
2 | g.230177643A>G | CA431539869 | SP110 | c.876T>C (p.Thr292=) c.1485T>C (p.Thr495=) c.1335T>C (p.Thr445=) n.207T>C n.2301T>C c.1503T>C (p.Thr501=) c.1479T>C (p.Thr493=) n.139T>C c.1353T>C (p.Thr451=) | |
2 | g.230177643A>T | CA431539870 | SP110 | c.876T>A (p.Thr292=) c.1485T>A (p.Thr495=) c.1335T>A (p.Thr445=) n.207T>A n.2301T>A c.1503T>A (p.Thr501=) c.1479T>A (p.Thr493=) n.139T>A c.1353T>A (p.Thr451=) | |
2 | g.230177644G>A | CA66735207 | SP110 | c.875C>T (p.Thr292Ile) c.1484C>T (p.Thr495Ile) c.1334C>T (p.Thr445Ile) n.206C>T n.2300C>T c.1502C>T (p.Thr501Ile) c.1478C>T (p.Thr493Ile) n.138C>T c.1352C>T (p.Thr451Ile) | dbSNP |
2 | g.230177644G>C | CA350903311 | SP110 | c.875C>G (p.Thr292Ser) c.1484C>G (p.Thr495Ser) c.1334C>G (p.Thr445Ser) n.206C>G n.2300C>G c.1502C>G (p.Thr501Ser) c.1478C>G (p.Thr493Ser) n.138C>G c.1352C>G (p.Thr451Ser) | |
2 | g.230177644G= | CA1334207200 | SP110 | c.875C= (p.Thr292=) c.1484C= (p.Thr495=) c.1334C= (p.Thr445=) n.206C= n.2300C= c.1502C= (p.Thr501=) c.1478C= (p.Thr493=) n.138C= c.1352C= (p.Thr451=) | |
2 | g.230177644G>T | CA350903312 | SP110 | c.875C>A (p.Thr292Asn) c.1484C>A (p.Thr495Asn) c.1334C>A (p.Thr445Asn) n.206C>A n.2300C>A c.1502C>A (p.Thr501Asn) c.1478C>A (p.Thr493Asn) n.138C>A c.1352C>A (p.Thr451Asn) | |
2 | g.230177645T>A | CA350903314 | SP110 | c.874A>T (p.Thr292Ser) c.1483A>T (p.Thr495Ser) c.1333A>T (p.Thr445Ser) n.205A>T n.2299A>T c.1501A>T (p.Thr501Ser) c.1477A>T (p.Thr493Ser) n.137A>T c.1351A>T (p.Thr451Ser) | |
2 | g.230177645T>C | CA350903316 | SP110 | c.874A>G (p.Thr292Ala) c.1483A>G (p.Thr495Ala) c.1333A>G (p.Thr445Ala) n.205A>G n.2299A>G c.1501A>G (p.Thr501Ala) c.1477A>G (p.Thr493Ala) n.137A>G c.1351A>G (p.Thr451Ala) | |
2 | g.230177645T>G | CA2154480 | SP110 | c.874A>C (p.Thr292Pro) c.1483A>C (p.Thr495Pro) c.1333A>C (p.Thr445Pro) n.205A>C n.2299A>C c.1501A>C (p.Thr501Pro) c.1477A>C (p.Thr493Pro) n.137A>C c.1351A>C (p.Thr451Pro) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
2 | g.230177645T= | CA1334207201 | SP110 | c.874A= (p.Thr292=) c.1483A= (p.Thr495=) c.1333A= (p.Thr445=) n.205A= n.2299A= c.1501A= (p.Thr501=) c.1477A= (p.Thr493=) n.137A= c.1351A= (p.Thr451=) |