Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.36222880_36222910delinsGAGATGCAAAGTGTCAGAAAGGGGGGTCCTA | CA1846333496 | CLTA,GNE | c.1593_1623delinsTAGGACCCCCCTTTCTGACACTTTGCATCTC (p.Leu531=) c.1323_1353delinsTAGGACCCCCCTTTCTGACACTTTGCATCTC (p.Leu441=) c.1500_1530delinsTAGGACCCCCCTTTCTGACACTTTGCATCTC (p.Leu500=) c.1411+463_1411+493delinsTAGGACCCCCCTTTCTGACACTTTGCATCTC (n.1411+463_1411+493delinsTAGGACCCCCCTTTCTGACACTTTGCATCTC) c.485+18701_485+18731delinsGAGATGCAAAGTGTCAGAAAGGGGGGTCCTA (n.485+18701_485+18731delinsGAGATGCAAAGTGTCAGAAAGGGGGGTCCTA) c.1170_1200delinsTAGGACCCCCCTTTCTGACACTTTGCATCTC (p.Leu390=) c.1485_1515delinsTAGGACCCCCCTTTCTGACACTTTGCATCTC (p.Leu495=) c.1440_1470delinsTAGGACCCCCCTTTCTGACACTTTGCATCTC (p.Leu480=) c.1347_1377delinsTAGGACCCCCCTTTCTGACACTTTGCATCTC (p.Leu449=) | |
9 | g.36222881_36222910delinsT | CA645369446 | CLTA,GNE | c.1593_1622delinsA (p.Arg532ProfsTer7) c.1323_1352delinsA (p.Arg442ProfsTer7) c.1500_1529delinsA (p.Arg501ProfsTer7) c.1411+463_1411+492delinsA (n.1411+463_1411+492delinsA) c.485+18702_485+18731delinsT (n.485+18702_485+18731delinsT) c.1170_1199delinsA (p.Arg391ProfsTer7) c.1485_1514delinsA (p.Arg496ProfsTer7) c.1440_1469delinsA (p.Arg481ProfsTer7) c.1347_1376delinsA (p.Arg450ProfsTer7) | ClinVar dbSNP |
9 | g.36222882_36222910del | CA2573144642 | CLTA,GNE | c.1594_1622del (p.Arg532ProfsTer7) c.1324_1352del (p.Arg442ProfsTer7) c.1501_1529del (p.Arg501ProfsTer7) c.1411+464_1411+492del (n.1411+464_1411+492del) c.485+18703_485+18731del (n.485+18703_485+18731del) c.1171_1199del (p.Arg391ProfsTer7) c.1486_1514del (p.Arg496ProfsTer7) c.1441_1469del (p.Arg481ProfsTer7) c.1348_1376del (p.Arg450ProfsTer7) | ClinVar dbSNP |
9 | g.36222884_36222910delinsTGCAAAGTGTCAGAAAGGGGGGTCCTA | CA1846333519 | CLTA,GNE | c.1593_1619delinsTAGGACCCCCCTTTCTGACACTTTGCA (p.Leu531=) c.1323_1349delinsTAGGACCCCCCTTTCTGACACTTTGCA (p.Leu441=) c.1500_1526delinsTAGGACCCCCCTTTCTGACACTTTGCA (p.Leu500=) c.1411+463_1411+489delinsTAGGACCCCCCTTTCTGACACTTTGCA (n.1411+463_1411+489delinsTAGGACCCCCCTTTCTGACACTTTGCA) c.485+18705_485+18731delinsTGCAAAGTGTCAGAAAGGGGGGTCCTA (n.485+18705_485+18731delinsTGCAAAGTGTCAGAAAGGGGGGTCCTA) c.1170_1196delinsTAGGACCCCCCTTTCTGACACTTTGCA (p.Leu390=) c.1485_1511delinsTAGGACCCCCCTTTCTGACACTTTGCA (p.Leu495=) c.1440_1466delinsTAGGACCCCCCTTTCTGACACTTTGCA (p.Leu480=) c.1347_1373delinsTAGGACCCCCCTTTCTGACACTTTGCA (p.Leu449=) | |
9 | g.36222885_36222910del | CA588147072 | CLTA,GNE | c.1593_1618del (p.Arg532SerfsTer8) c.1323_1348del (p.Arg442SerfsTer8) c.1500_1525del (p.Arg501SerfsTer8) c.1411+463_1411+488del (n.1411+463_1411+488del) c.485+18706_485+18731del (n.485+18706_485+18731del) c.1170_1195del (p.Arg391SerfsTer8) c.1485_1510del (p.Arg496SerfsTer8) c.1440_1465del (p.Arg481SerfsTer8) c.1347_1372del (p.Arg450SerfsTer8) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.36222898A>C | CA464495222 | CLTA,GNE | c.1605T>G (p.Leu535=) c.1335T>G (p.Leu445=) c.1512T>G (p.Leu504=) c.1411+475T>G (n.1411+475T>G) c.485+18719A>C (n.485+18719A>C) c.1182T>G (p.Leu394=) c.1497T>G (p.Leu499=) c.1452T>G (p.Leu484=) c.1359T>G (p.Leu453=) | |
9 | g.36222898A>G | CA464495223 | CLTA,GNE | c.1605T>C (p.Leu535=) c.1335T>C (p.Leu445=) c.1512T>C (p.Leu504=) c.1411+475T>C (n.1411+475T>C) c.485+18719A>G (n.485+18719A>G) c.1182T>C (p.Leu394=) c.1497T>C (p.Leu499=) c.1452T>C (p.Leu484=) c.1359T>C (p.Leu453=) | gnomAD v4 |
9 | g.36222898A>T | CA464495224 | CLTA,GNE | c.1605T>A (p.Leu535=) c.1335T>A (p.Leu445=) c.1512T>A (p.Leu504=) c.1411+475T>A (n.1411+475T>A) c.485+18719A>T (n.485+18719A>T) c.1182T>A (p.Leu394=) c.1497T>A (p.Leu499=) c.1452T>A (p.Leu484=) c.1359T>A (p.Leu453=) | |
9 | g.36222899A= | CA1846333562 | CLTA,GNE | c.1604T= (p.Leu535=) c.1334T= (p.Leu445=) c.1511T= (p.Leu504=) c.1411+474T= (n.1411+474T=) c.485+18720A= (n.485+18720A=) c.1181T= (p.Leu394=) c.1496T= (p.Leu499=) c.1451T= (p.Leu484=) c.1358T= (p.Leu453=) | |
9 | g.36222899A>C | CA373426517 | CLTA,GNE | c.1604T>G (p.Leu535Arg) c.1334T>G (p.Leu445Arg) c.1511T>G (p.Leu504Arg) c.1411+474T>G (n.1411+474T>G) c.485+18720A>C (n.485+18720A>C) c.1181T>G (p.Leu394Arg) c.1496T>G (p.Leu499Arg) c.1451T>G (p.Leu484Arg) c.1358T>G (p.Leu453Arg) | gnomAD v4 |
9 | g.36222899A>G | CA373426521 | CLTA,GNE | c.1604T>C (p.Leu535Pro) c.1334T>C (p.Leu445Pro) c.1511T>C (p.Leu504Pro) c.1411+474T>C (n.1411+474T>C) c.485+18720A>G (n.485+18720A>G) c.1181T>C (p.Leu394Pro) c.1496T>C (p.Leu499Pro) c.1451T>C (p.Leu484Pro) c.1358T>C (p.Leu453Pro) | |
9 | g.36222899A>T | CA373426519 | CLTA,GNE | c.1604T>A (p.Leu535His) c.1334T>A (p.Leu445His) c.1511T>A (p.Leu504His) c.1411+474T>A (n.1411+474T>A) c.485+18720A>T (n.485+18720A>T) c.1181T>A (p.Leu394His) c.1496T>A (p.Leu499His) c.1451T>A (p.Leu484His) c.1358T>A (p.Leu453His) | |
9 | g.36222900G>A | CA5056473 | CLTA,GNE | c.1603C>T (p.Leu535Phe) c.1333C>T (p.Leu445Phe) c.1510C>T (p.Leu504Phe) c.1411+473C>T (n.1411+473C>T) c.485+18721G>A (n.485+18721G>A) c.1180C>T (p.Leu394Phe) c.1495C>T (p.Leu499Phe) c.1450C>T (p.Leu484Phe) c.1357C>T (p.Leu453Phe) | ClinVar dbSNP ExAC gnomAD v4 |
9 | g.36222900G>C | CA373426529 | CLTA,GNE | c.1603C>G (p.Leu535Val) c.1333C>G (p.Leu445Val) c.1510C>G (p.Leu504Val) c.1411+473C>G (n.1411+473C>G) c.485+18721G>C (n.485+18721G>C) c.1180C>G (p.Leu394Val) c.1495C>G (p.Leu499Val) c.1450C>G (p.Leu484Val) c.1357C>G (p.Leu453Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36222900G= | CA1846333571 | CLTA,GNE | c.1603C= (p.Leu535=) c.1333C= (p.Leu445=) c.1510C= (p.Leu504=) c.1411+473C= (n.1411+473C=) c.485+18721G= (n.485+18721G=) c.1180C= (p.Leu394=) c.1495C= (p.Leu499=) c.1450C= (p.Leu484=) c.1357C= (p.Leu453=) | |
9 | g.36222900G>T | CA373426531 | CLTA,GNE | c.1603C>A (p.Leu535Ile) c.1333C>A (p.Leu445Ile) c.1510C>A (p.Leu504Ile) c.1411+473C>A (n.1411+473C>A) c.485+18721G>T (n.485+18721G>T) c.1180C>A (p.Leu394Ile) c.1495C>A (p.Leu499Ile) c.1450C>A (p.Leu484Ile) c.1357C>A (p.Leu453Ile) | gnomAD v4 |
9 | g.36222905dup | CA1139660952 | CLTA,GNE | c.1603dup (p.Leu535ProfsTer3) c.1333dup (p.Leu445ProfsTer3) c.1510dup (p.Leu504ProfsTer3) c.1411+473dup (n.1411+473dup) c.485+18726dup (n.485+18726dup) c.1180dup (p.Leu394ProfsTer3) c.1495dup (p.Leu499ProfsTer3) c.1450dup (p.Leu484ProfsTer3) c.1357dup (p.Leu453ProfsTer3) | ClinVar dbSNP gnomAD v4 |
9 | g.36222901G>A | CA464495225 | CLTA,GNE | c.1602C>T (p.Pro534=) c.1332C>T (p.Pro444=) c.1509C>T (p.Pro503=) c.1411+472C>T (n.1411+472C>T) c.485+18722G>A (n.485+18722G>A) c.1179C>T (p.Pro393=) c.1494C>T (p.Pro498=) c.1449C>T (p.Pro483=) c.1356C>T (p.Pro452=) | gnomAD v4 |
9 | g.36222901G>C | CA5056474 | CLTA,GNE | c.1602C>G (p.Pro534=) c.1332C>G (p.Pro444=) c.1509C>G (p.Pro503=) c.1411+472C>G (n.1411+472C>G) c.485+18722G>C (n.485+18722G>C) c.1179C>G (p.Pro393=) c.1494C>G (p.Pro498=) c.1449C>G (p.Pro483=) c.1356C>G (p.Pro452=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36222901G= | CA1846333591 | CLTA,GNE | c.1602C= (p.Pro534=) c.1332C= (p.Pro444=) c.1509C= (p.Pro503=) c.1411+472C= (n.1411+472C=) c.485+18722G= (n.485+18722G=) c.1179C= (p.Pro393=) c.1494C= (p.Pro498=) c.1449C= (p.Pro483=) c.1356C= (p.Pro452=) | |
9 | g.36222901G>T | CA464495226 | CLTA,GNE | c.1602C>A (p.Pro534=) c.1332C>A (p.Pro444=) c.1509C>A (p.Pro503=) c.1411+472C>A (n.1411+472C>A) c.485+18722G>T (n.485+18722G>T) c.1179C>A (p.Pro393=) c.1494C>A (p.Pro498=) c.1449C>A (p.Pro483=) c.1356C>A (p.Pro452=) | ClinVar dbSNP gnomAD v4 |
9 | g.36222902G>A | CA373426541 | CLTA,GNE | c.1601C>T (p.Pro534Leu) c.1331C>T (p.Pro444Leu) c.1508C>T (p.Pro503Leu) c.1411+471C>T (n.1411+471C>T) c.485+18723G>A (n.485+18723G>A) c.1178C>T (p.Pro393Leu) c.1493C>T (p.Pro498Leu) c.1448C>T (p.Pro483Leu) c.1355C>T (p.Pro452Leu) | |
9 | g.36222902G>C | CA5056475 | CLTA,GNE | c.1601C>G (p.Pro534Arg) c.1331C>G (p.Pro444Arg) c.1508C>G (p.Pro503Arg) c.1411+471C>G (n.1411+471C>G) c.485+18723G>C (n.485+18723G>C) c.1178C>G (p.Pro393Arg) c.1493C>G (p.Pro498Arg) c.1448C>G (p.Pro483Arg) c.1355C>G (p.Pro452Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36222902G= | CA1846333613 | CLTA,GNE | c.1601C= (p.Pro534=) c.1331C= (p.Pro444=) c.1508C= (p.Pro503=) c.1411+471C= (n.1411+471C=) c.485+18723G= (n.485+18723G=) c.1178C= (p.Pro393=) c.1493C= (p.Pro498=) c.1448C= (p.Pro483=) c.1355C= (p.Pro452=) | |
9 | g.36222902G>T | CA373426544 | CLTA,GNE | c.1601C>A (p.Pro534His) c.1331C>A (p.Pro444His) c.1508C>A (p.Pro503His) c.1411+471C>A (n.1411+471C>A) c.485+18723G>T (n.485+18723G>T) c.1178C>A (p.Pro393His) c.1493C>A (p.Pro498His) c.1448C>A (p.Pro483His) c.1355C>A (p.Pro452His) | |
9 | g.36222903G>A | CA373426546 | CLTA,GNE | c.1600C>T (p.Pro534Ser) c.1330C>T (p.Pro444Ser) c.1507C>T (p.Pro503Ser) c.1411+470C>T (n.1411+470C>T) c.485+18724G>A (n.485+18724G>A) c.1177C>T (p.Pro393Ser) c.1492C>T (p.Pro498Ser) c.1447C>T (p.Pro483Ser) c.1354C>T (p.Pro452Ser) | COSMIC COSMIC COSMIC |
9 | g.36222903G>C | CA373426549 | CLTA,GNE | c.1600C>G (p.Pro534Ala) c.1330C>G (p.Pro444Ala) c.1507C>G (p.Pro503Ala) c.1411+470C>G (n.1411+470C>G) c.485+18724G>C (n.485+18724G>C) c.1177C>G (p.Pro393Ala) c.1492C>G (p.Pro498Ala) c.1447C>G (p.Pro483Ala) c.1354C>G (p.Pro452Ala) | |
9 | g.36222903G>T | CA373426551 | CLTA,GNE | c.1600C>A (p.Pro534Thr) c.1330C>A (p.Pro444Thr) c.1507C>A (p.Pro503Thr) c.1411+470C>A (n.1411+470C>A) c.485+18724G>T (n.485+18724G>T) c.1177C>A (p.Pro393Thr) c.1492C>A (p.Pro498Thr) c.1447C>A (p.Pro483Thr) c.1354C>A (p.Pro452Thr) | |
9 | g.36222904G>A | CA464495227 | CLTA,GNE | c.1599C>T (p.Thr533=) c.1329C>T (p.Thr443=) c.1506C>T (p.Thr502=) c.1411+469C>T (n.1411+469C>T) c.485+18725G>A (n.485+18725G>A) c.1176C>T (p.Thr392=) c.1491C>T (p.Thr497=) c.1446C>T (p.Thr482=) c.1353C>T (p.Thr451=) | |
9 | g.36222904G>C | CA464495228 | CLTA,GNE | c.1599C>G (p.Thr533=) c.1329C>G (p.Thr443=) c.1506C>G (p.Thr502=) c.1411+469C>G (n.1411+469C>G) c.485+18725G>C (n.485+18725G>C) c.1176C>G (p.Thr392=) c.1491C>G (p.Thr497=) c.1446C>G (p.Thr482=) c.1353C>G (p.Thr451=) | |
9 | g.36222904G>T | CA464495229 | CLTA,GNE | c.1599C>A (p.Thr533=) c.1329C>A (p.Thr443=) c.1506C>A (p.Thr502=) c.1411+469C>A (n.1411+469C>A) c.485+18725G>T (n.485+18725G>T) c.1176C>A (p.Thr392=) c.1491C>A (p.Thr497=) c.1446C>A (p.Thr482=) c.1353C>A (p.Thr451=) | gnomAD v4 |
9 | g.36222905G>A | CA373426556 | CLTA,GNE | c.1598C>T (p.Thr533Ile) c.1328C>T (p.Thr443Ile) c.1505C>T (p.Thr502Ile) c.1411+468C>T (n.1411+468C>T) c.485+18726G>A (n.485+18726G>A) c.1175C>T (p.Thr392Ile) c.1490C>T (p.Thr497Ile) c.1445C>T (p.Thr482Ile) c.1352C>T (p.Thr451Ile) | |
9 | g.36222905G>C | CA373426557 | CLTA,GNE | c.1598C>G (p.Thr533Ser) c.1328C>G (p.Thr443Ser) c.1505C>G (p.Thr502Ser) c.1411+468C>G (n.1411+468C>G) c.485+18726G>C (n.485+18726G>C) c.1175C>G (p.Thr392Ser) c.1490C>G (p.Thr497Ser) c.1445C>G (p.Thr482Ser) c.1352C>G (p.Thr451Ser) | |
9 | g.36222905G= | CA1846333624 | CLTA,GNE | c.1598C= (p.Thr533=) c.1328C= (p.Thr443=) c.1505C= (p.Thr502=) c.1411+468C= (n.1411+468C=) c.485+18726G= (n.485+18726G=) c.1175C= (p.Thr392=) c.1490C= (p.Thr497=) c.1445C= (p.Thr482=) c.1352C= (p.Thr451=) | |
9 | g.36222905G>T | CA373426553 | CLTA,GNE | c.1598C>A (p.Thr533Asn) c.1328C>A (p.Thr443Asn) c.1505C>A (p.Thr502Asn) c.1411+468C>A (n.1411+468C>A) c.485+18726G>T (n.485+18726G>T) c.1175C>A (p.Thr392Asn) c.1490C>A (p.Thr497Asn) c.1445C>A (p.Thr482Asn) c.1352C>A (p.Thr451Asn) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.36222906T>A | CA373426560 | CLTA,GNE | c.1597A>T (p.Thr533Ser) c.1327A>T (p.Thr443Ser) c.1504A>T (p.Thr502Ser) c.1411+467A>T (n.1411+467A>T) c.485+18727T>A (n.485+18727T>A) c.1174A>T (p.Thr392Ser) c.1489A>T (p.Thr497Ser) c.1444A>T (p.Thr482Ser) c.1351A>T (p.Thr451Ser) | |
9 | g.36222906T>C | CA373426563 | CLTA,GNE | c.1597A>G (p.Thr533Ala) c.1327A>G (p.Thr443Ala) c.1504A>G (p.Thr502Ala) c.1411+467A>G (n.1411+467A>G) c.485+18727T>C (n.485+18727T>C) c.1174A>G (p.Thr392Ala) c.1489A>G (p.Thr497Ala) c.1444A>G (p.Thr482Ala) c.1351A>G (p.Thr451Ala) | |
9 | g.36222906T>G | CA373426573 | CLTA,GNE | c.1597A>C (p.Thr533Pro) c.1327A>C (p.Thr443Pro) c.1504A>C (p.Thr502Pro) c.1411+467A>C (n.1411+467A>C) c.485+18727T>G (n.485+18727T>G) c.1174A>C (p.Thr392Pro) c.1489A>C (p.Thr497Pro) c.1444A>C (p.Thr482Pro) c.1351A>C (p.Thr451Pro) | |
9 | g.36222907C>A | CA373426576 | CLTA,GNE | c.1596G>T (p.Arg532Ser) c.1326G>T (p.Arg442Ser) c.1503G>T (p.Arg501Ser) c.1411+466G>T (n.1411+466G>T) c.485+18728C>A (n.485+18728C>A) c.1173G>T (p.Arg391Ser) c.1488G>T (p.Arg496Ser) c.1443G>T (p.Arg481Ser) c.1350G>T (p.Arg450Ser) | |
9 | g.36222907C>G | CA373426578 | CLTA,GNE | c.1596G>C (p.Arg532Ser) c.1326G>C (p.Arg442Ser) c.1503G>C (p.Arg501Ser) c.1411+466G>C (n.1411+466G>C) c.485+18728C>G (n.485+18728C>G) c.1173G>C (p.Arg391Ser) c.1488G>C (p.Arg496Ser) c.1443G>C (p.Arg481Ser) c.1350G>C (p.Arg450Ser) | |
9 | g.36222907C>T | CA464495230 | CLTA,GNE | c.1596G>A (p.Arg532=) c.1326G>A (p.Arg442=) c.1503G>A (p.Arg501=) c.1411+466G>A (n.1411+466G>A) c.485+18728C>T (n.485+18728C>T) c.1173G>A (p.Arg391=) c.1488G>A (p.Arg496=) c.1443G>A (p.Arg481=) c.1350G>A (p.Arg450=) | |
9 | g.36222908C>A | CA373426588 | CLTA,GNE | c.1595G>T (p.Arg532Met) c.1325G>T (p.Arg442Met) c.1502G>T (p.Arg501Met) c.1411+465G>T (n.1411+465G>T) c.485+18729C>A (n.485+18729C>A) c.1172G>T (p.Arg391Met) c.1487G>T (p.Arg496Met) c.1442G>T (p.Arg481Met) c.1349G>T (p.Arg450Met) | |
9 | g.36222908C>G | CA373426581 | CLTA,GNE | c.1595G>C (p.Arg532Thr) c.1325G>C (p.Arg442Thr) c.1502G>C (p.Arg501Thr) c.1411+465G>C (n.1411+465G>C) c.485+18729C>G (n.485+18729C>G) c.1172G>C (p.Arg391Thr) c.1487G>C (p.Arg496Thr) c.1442G>C (p.Arg481Thr) c.1349G>C (p.Arg450Thr) | |
9 | g.36222908C>T | CA373426583 | CLTA,GNE | c.1595G>A (p.Arg532Lys) c.1325G>A (p.Arg442Lys) c.1502G>A (p.Arg501Lys) c.1411+465G>A (n.1411+465G>A) c.485+18729C>T (n.485+18729C>T) c.1172G>A (p.Arg391Lys) c.1487G>A (p.Arg496Lys) c.1442G>A (p.Arg481Lys) c.1349G>A (p.Arg450Lys) | |
9 | g.36222909T>A | CA373426589 | CLTA,GNE | c.1594A>T (p.Arg532Trp) c.1324A>T (p.Arg442Trp) c.1501A>T (p.Arg501Trp) c.1411+464A>T (n.1411+464A>T) c.485+18730T>A (n.485+18730T>A) c.1171A>T (p.Arg391Trp) c.1486A>T (p.Arg496Trp) c.1441A>T (p.Arg481Trp) c.1348A>T (p.Arg450Trp) | |
9 | g.36222909T>C | CA373426591 | CLTA,GNE | c.1594A>G (p.Arg532Gly) c.1324A>G (p.Arg442Gly) c.1501A>G (p.Arg501Gly) c.1411+464A>G (n.1411+464A>G) c.485+18730T>C (n.485+18730T>C) c.1171A>G (p.Arg391Gly) c.1486A>G (p.Arg496Gly) c.1441A>G (p.Arg481Gly) c.1348A>G (p.Arg450Gly) | gnomAD v4 |
9 | g.36222909T>G | CA464495231 | CLTA,GNE | c.1594A>C (p.Arg532=) c.1324A>C (p.Arg442=) c.1501A>C (p.Arg501=) c.1411+464A>C (n.1411+464A>C) c.485+18730T>G (n.485+18730T>G) c.1171A>C (p.Arg391=) c.1486A>C (p.Arg496=) c.1441A>C (p.Arg481=) c.1348A>C (p.Arg450=) | |
9 | g.36222910A>C | CA464495232 | CLTA,GNE | c.1593T>G (p.Leu531=) c.1323T>G (p.Leu441=) c.1500T>G (p.Leu500=) c.1411+463T>G (n.1411+463T>G) c.485+18731A>C (n.485+18731A>C) c.1170T>G (p.Leu390=) c.1485T>G (p.Leu495=) c.1440T>G (p.Leu480=) c.1347T>G (p.Leu449=) | gnomAD v4 |
9 | g.36222910A>G | CA464495233 | CLTA,GNE | c.1593T>C (p.Leu531=) c.1323T>C (p.Leu441=) c.1500T>C (p.Leu500=) c.1411+463T>C (n.1411+463T>C) c.485+18731A>G (n.485+18731A>G) c.1170T>C (p.Leu390=) c.1485T>C (p.Leu495=) c.1440T>C (p.Leu480=) c.1347T>C (p.Leu449=) | gnomAD v4 |
9 | g.36222910A>T | CA464495234 | CLTA,GNE | c.1593T>A (p.Leu531=) c.1323T>A (p.Leu441=) c.1500T>A (p.Leu500=) c.1411+463T>A (n.1411+463T>A) c.485+18731A>T (n.485+18731A>T) c.1170T>A (p.Leu390=) c.1485T>A (p.Leu495=) c.1440T>A (p.Leu480=) c.1347T>A (p.Leu449=) | ClinVar dbSNP |
9 | g.36222911A>C | CA373426597 | CLTA,GNE | c.1592T>G (p.Leu531Arg) c.1322T>G (p.Leu441Arg) c.1499T>G (p.Leu500Arg) c.1411+462T>G (n.1411+462T>G) c.485+18732A>C (n.485+18732A>C) c.1169T>G (p.Leu390Arg) c.1484T>G (p.Leu495Arg) c.1439T>G (p.Leu480Arg) c.1346T>G (p.Leu449Arg) | |
9 | g.36222911A>G | CA373426599 | CLTA,GNE | c.1592T>C (p.Leu531Pro) c.1322T>C (p.Leu441Pro) c.1499T>C (p.Leu500Pro) c.1411+462T>C (n.1411+462T>C) c.485+18732A>G (n.485+18732A>G) c.1169T>C (p.Leu390Pro) c.1484T>C (p.Leu495Pro) c.1439T>C (p.Leu480Pro) c.1346T>C (p.Leu449Pro) | |
9 | g.36222911A>T | CA373426601 | CLTA,GNE | c.1592T>A (p.Leu531His) c.1322T>A (p.Leu441His) c.1499T>A (p.Leu500His) c.1411+462T>A (n.1411+462T>A) c.485+18732A>T (n.485+18732A>T) c.1169T>A (p.Leu390His) c.1484T>A (p.Leu495His) c.1439T>A (p.Leu480His) c.1346T>A (p.Leu449His) | |
9 | g.36222912G>A | CA373426603 | CLTA,GNE | c.1591C>T (p.Leu531Phe) c.1321C>T (p.Leu441Phe) c.1498C>T (p.Leu500Phe) c.1411+461C>T (n.1411+461C>T) c.485+18733G>A (n.485+18733G>A) c.1168C>T (p.Leu390Phe) c.1483C>T (p.Leu495Phe) c.1438C>T (p.Leu480Phe) c.1345C>T (p.Leu449Phe) | gnomAD v4 |
9 | g.36222912G>C | CA373426607 | CLTA,GNE | c.1591C>G (p.Leu531Val) c.1321C>G (p.Leu441Val) c.1498C>G (p.Leu500Val) c.1411+461C>G (n.1411+461C>G) c.485+18733G>C (n.485+18733G>C) c.1168C>G (p.Leu390Val) c.1483C>G (p.Leu495Val) c.1438C>G (p.Leu480Val) c.1345C>G (p.Leu449Val) | |
9 | g.36222912G>T | CA373426606 | CLTA,GNE | c.1591C>A (p.Leu531Ile) c.1321C>A (p.Leu441Ile) c.1498C>A (p.Leu500Ile) c.1411+461C>A (n.1411+461C>A) c.485+18733G>T (n.485+18733G>T) c.1168C>A (p.Leu390Ile) c.1483C>A (p.Leu495Ile) c.1438C>A (p.Leu480Ile) c.1345C>A (p.Leu449Ile) | |
9 | g.36222913G>A | CA464495235 | CLTA,GNE | c.1590C>T (p.Asp530=) c.1320C>T (p.Asp440=) c.1497C>T (p.Asp499=) c.1411+460C>T (n.1411+460C>T) c.485+18734G>A (n.485+18734G>A) c.1167C>T (p.Asp389=) c.1482C>T (p.Asp494=) c.1437C>T (p.Asp479=) c.1344C>T (p.Asp448=) | |
9 | g.36222913G>C | CA373426610 | CLTA,GNE | c.1590C>G (p.Asp530Glu) c.1320C>G (p.Asp440Glu) c.1497C>G (p.Asp499Glu) c.1411+460C>G (n.1411+460C>G) c.485+18734G>C (n.485+18734G>C) c.1167C>G (p.Asp389Glu) c.1482C>G (p.Asp494Glu) c.1437C>G (p.Asp479Glu) c.1344C>G (p.Asp448Glu) | |
9 | g.36222913G>T | CA373426612 | CLTA,GNE | c.1590C>A (p.Asp530Glu) c.1320C>A (p.Asp440Glu) c.1497C>A (p.Asp499Glu) c.1411+460C>A (n.1411+460C>A) c.485+18734G>T (n.485+18734G>T) c.1167C>A (p.Asp389Glu) c.1482C>A (p.Asp494Glu) c.1437C>A (p.Asp479Glu) c.1344C>A (p.Asp448Glu) | COSMIC COSMIC COSMIC |
9 | g.36222914T>A | CA373426615 | CLTA,GNE | c.1589A>T (p.Asp530Val) c.1319A>T (p.Asp440Val) c.1496A>T (p.Asp499Val) c.1411+459A>T (n.1411+459A>T) c.485+18735T>A (n.485+18735T>A) c.1166A>T (p.Asp389Val) c.1481A>T (p.Asp494Val) c.1436A>T (p.Asp479Val) c.1343A>T (p.Asp448Val) | |
9 | g.36222914T>C | CA373426617 | CLTA,GNE | c.1589A>G (p.Asp530Gly) c.1319A>G (p.Asp440Gly) c.1496A>G (p.Asp499Gly) c.1411+459A>G (n.1411+459A>G) c.485+18735T>C (n.485+18735T>C) c.1166A>G (p.Asp389Gly) c.1481A>G (p.Asp494Gly) c.1436A>G (p.Asp479Gly) c.1343A>G (p.Asp448Gly) | |
9 | g.36222914T>G | CA373426618 | CLTA,GNE | c.1589A>C (p.Asp530Ala) c.1319A>C (p.Asp440Ala) c.1496A>C (p.Asp499Ala) c.1411+459A>C (n.1411+459A>C) c.485+18735T>G (n.485+18735T>G) c.1166A>C (p.Asp389Ala) c.1481A>C (p.Asp494Ala) c.1436A>C (p.Asp479Ala) c.1343A>C (p.Asp448Ala) | |
9 | g.36222915C>A | CA373426619 | CLTA,GNE | c.1588G>T (p.Asp530Tyr) c.1318G>T (p.Asp440Tyr) c.1495G>T (p.Asp499Tyr) c.1411+458G>T (n.1411+458G>T) c.485+18736C>A (n.485+18736C>A) c.1165G>T (p.Asp389Tyr) c.1480G>T (p.Asp494Tyr) c.1435G>T (p.Asp479Tyr) c.1342G>T (p.Asp448Tyr) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.36222915C= | CA1846333630 | CLTA,GNE | c.1588G= (p.Asp530=) c.1318G= (p.Asp440=) c.1495G= (p.Asp499=) c.1411+458G= (n.1411+458G=) c.485+18736C= (n.485+18736C=) c.1165G= (p.Asp389=) c.1480G= (p.Asp494=) c.1435G= (p.Asp479=) c.1342G= (p.Asp448=) | |
9 | g.36222915C>G | CA373426622 | CLTA,GNE | c.1588G>C (p.Asp530His) c.1318G>C (p.Asp440His) c.1495G>C (p.Asp499His) c.1411+458G>C (n.1411+458G>C) c.485+18736C>G (n.485+18736C>G) c.1165G>C (p.Asp389His) c.1480G>C (p.Asp494His) c.1435G>C (p.Asp479His) c.1342G>C (p.Asp448His) | |
9 | g.36222915C>T | CA373426623 | CLTA,GNE | c.1588G>A (p.Asp530Asn) c.1318G>A (p.Asp440Asn) c.1495G>A (p.Asp499Asn) c.1411+458G>A (n.1411+458G>A) c.485+18736C>T (n.485+18736C>T) c.1165G>A (p.Asp389Asn) c.1480G>A (p.Asp494Asn) c.1435G>A (p.Asp479Asn) c.1342G>A (p.Asp448Asn) | |
9 | g.36222916C>A | CA464495236 | CLTA,GNE | c.1587G>T (p.Val529=) c.1317G>T (p.Val439=) c.1494G>T (p.Val498=) c.1411+457G>T (n.1411+457G>T) c.485+18737C>A (n.485+18737C>A) c.1164G>T (p.Val388=) c.1479G>T (p.Val493=) c.1434G>T (p.Val478=) c.1341G>T (p.Val447=) | |
9 | g.36222916C>G | CA464495237 | CLTA,GNE | c.1587G>C (p.Val529=) c.1317G>C (p.Val439=) c.1494G>C (p.Val498=) c.1411+457G>C (n.1411+457G>C) c.485+18737C>G (n.485+18737C>G) c.1164G>C (p.Val388=) c.1479G>C (p.Val493=) c.1434G>C (p.Val478=) c.1341G>C (p.Val447=) | |
9 | g.36222916C>T | CA464495238 | CLTA,GNE | c.1587G>A (p.Val529=) c.1317G>A (p.Val439=) c.1494G>A (p.Val498=) c.1411+457G>A (n.1411+457G>A) c.485+18737C>T (n.485+18737C>T) c.1164G>A (p.Val388=) c.1479G>A (p.Val493=) c.1434G>A (p.Val478=) c.1341G>A (p.Val447=) | |
9 | g.36222917A>C | CA373426624 | CLTA,GNE | c.1586T>G (p.Val529Gly) c.1316T>G (p.Val439Gly) c.1493T>G (p.Val498Gly) c.1411+456T>G (n.1411+456T>G) c.485+18738A>C (n.485+18738A>C) c.1163T>G (p.Val388Gly) c.1478T>G (p.Val493Gly) c.1433T>G (p.Val478Gly) c.1340T>G (p.Val447Gly) | |
9 | g.36222917A>G | CA373426625 | CLTA,GNE | c.1586T>C (p.Val529Ala) c.1316T>C (p.Val439Ala) c.1493T>C (p.Val498Ala) c.1411+456T>C (n.1411+456T>C) c.485+18738A>G (n.485+18738A>G) c.1163T>C (p.Val388Ala) c.1478T>C (p.Val493Ala) c.1433T>C (p.Val478Ala) c.1340T>C (p.Val447Ala) | |
9 | g.36222917A>T | CA373426626 | CLTA,GNE | c.1586T>A (p.Val529Glu) c.1316T>A (p.Val439Glu) c.1493T>A (p.Val498Glu) c.1411+456T>A (n.1411+456T>A) c.485+18738A>T (n.485+18738A>T) c.1163T>A (p.Val388Glu) c.1478T>A (p.Val493Glu) c.1433T>A (p.Val478Glu) c.1340T>A (p.Val447Glu) | |
9 | g.36222918C>A | CA373426632 | CLTA,GNE | c.1585G>T (p.Val529Leu) c.1315G>T (p.Val439Leu) c.1492G>T (p.Val498Leu) c.1411+455G>T (n.1411+455G>T) c.485+18739C>A (n.485+18739C>A) c.1162G>T (p.Val388Leu) c.1477G>T (p.Val493Leu) c.1432G>T (p.Val478Leu) c.1339G>T (p.Val447Leu) | |
9 | g.36222918C>G | CA373426631 | CLTA,GNE | c.1585G>C (p.Val529Leu) c.1315G>C (p.Val439Leu) c.1492G>C (p.Val498Leu) c.1411+455G>C (n.1411+455G>C) c.485+18739C>G (n.485+18739C>G) c.1162G>C (p.Val388Leu) c.1477G>C (p.Val493Leu) c.1432G>C (p.Val478Leu) c.1339G>C (p.Val447Leu) | |
9 | g.36222918C>T | CA373426628 | CLTA,GNE | c.1585G>A (p.Val529Met) c.1315G>A (p.Val439Met) c.1492G>A (p.Val498Met) c.1411+455G>A (n.1411+455G>A) c.485+18739C>T (n.485+18739C>T) c.1162G>A (p.Val388Met) c.1477G>A (p.Val493Met) c.1432G>A (p.Val478Met) c.1339G>A (p.Val447Met) | |
9 | g.36222919A>C | CA464495239 | CLTA,GNE | c.1584T>G (p.Ser528=) c.1314T>G (p.Ser438=) c.1491T>G (p.Ser497=) c.1411+454T>G (n.1411+454T>G) c.485+18740A>C (n.485+18740A>C) c.1161T>G (p.Ser387=) c.1476T>G (p.Ser492=) c.1431T>G (p.Ser477=) c.1338T>G (p.Ser446=) | |
9 | g.36222919A>G | CA464495240 | CLTA,GNE | c.1584T>C (p.Ser528=) c.1314T>C (p.Ser438=) c.1491T>C (p.Ser497=) c.1411+454T>C (n.1411+454T>C) c.485+18740A>G (n.485+18740A>G) c.1161T>C (p.Ser387=) c.1476T>C (p.Ser492=) c.1431T>C (p.Ser477=) c.1338T>C (p.Ser446=) | |
9 | g.36222919A>T | CA464495241 | CLTA,GNE | c.1584T>A (p.Ser528=) c.1314T>A (p.Ser438=) c.1491T>A (p.Ser497=) c.1411+454T>A (n.1411+454T>A) c.485+18740A>T (n.485+18740A>T) c.1161T>A (p.Ser387=) c.1476T>A (p.Ser492=) c.1431T>A (p.Ser477=) c.1338T>A (p.Ser446=) | |
9 | g.36222920G>A | CA373426634 | CLTA,GNE | c.1583C>T (p.Ser528Phe) c.1313C>T (p.Ser438Phe) c.1490C>T (p.Ser497Phe) c.1411+453C>T (n.1411+453C>T) c.485+18741G>A (n.485+18741G>A) c.1160C>T (p.Ser387Phe) c.1475C>T (p.Ser492Phe) c.1430C>T (p.Ser477Phe) c.1337C>T (p.Ser446Phe) | gnomAD v4 |
9 | g.36222920G>C | CA373426639 | CLTA,GNE | c.1583C>G (p.Ser528Cys) c.1313C>G (p.Ser438Cys) c.1490C>G (p.Ser497Cys) c.1411+453C>G (n.1411+453C>G) c.485+18741G>C (n.485+18741G>C) c.1160C>G (p.Ser387Cys) c.1475C>G (p.Ser492Cys) c.1430C>G (p.Ser477Cys) c.1337C>G (p.Ser446Cys) | |
9 | g.36222920G>T | CA373426636 | CLTA,GNE | c.1583C>A (p.Ser528Tyr) c.1313C>A (p.Ser438Tyr) c.1490C>A (p.Ser497Tyr) c.1411+453C>A (n.1411+453C>A) c.485+18741G>T (n.485+18741G>T) c.1160C>A (p.Ser387Tyr) c.1475C>A (p.Ser492Tyr) c.1430C>A (p.Ser477Tyr) c.1337C>A (p.Ser446Tyr) | |
9 | g.36222921A>C | CA373426642 | CLTA,GNE | c.1582T>G (p.Ser528Ala) c.1312T>G (p.Ser438Ala) c.1489T>G (p.Ser497Ala) c.1411+452T>G (n.1411+452T>G) c.485+18742A>C (n.485+18742A>C) c.1159T>G (p.Ser387Ala) c.1474T>G (p.Ser492Ala) c.1429T>G (p.Ser477Ala) c.1336T>G (p.Ser446Ala) | |
9 | g.36222921A>G | CA373426644 | CLTA,GNE | c.1582T>C (p.Ser528Pro) c.1312T>C (p.Ser438Pro) c.1489T>C (p.Ser497Pro) c.1411+452T>C (n.1411+452T>C) c.485+18742A>G (n.485+18742A>G) c.1159T>C (p.Ser387Pro) c.1474T>C (p.Ser492Pro) c.1429T>C (p.Ser477Pro) c.1336T>C (p.Ser446Pro) | |
9 | g.36222921A>T | CA373426645 | CLTA,GNE | c.1582T>A (p.Ser528Thr) c.1312T>A (p.Ser438Thr) c.1489T>A (p.Ser497Thr) c.1411+452T>A (n.1411+452T>A) c.485+18742A>T (n.485+18742A>T) c.1159T>A (p.Ser387Thr) c.1474T>A (p.Ser492Thr) c.1429T>A (p.Ser477Thr) c.1336T>A (p.Ser446Thr) | |
9 | g.36222922G>A | CA464495242 | CLTA,GNE | c.1581C>T (p.Asn527=) c.1311C>T (p.Asn437=) c.1488C>T (p.Asn496=) c.1411+451C>T (n.1411+451C>T) c.485+18743G>A (n.485+18743G>A) c.1158C>T (p.Asn386=) c.1473C>T (p.Asn491=) c.1428C>T (p.Asn476=) c.1335C>T (p.Asn445=) | ClinVar |
9 | g.36222922G>C | CA373426647 | CLTA,GNE | c.1581C>G (p.Asn527Lys) c.1311C>G (p.Asn437Lys) c.1488C>G (p.Asn496Lys) c.1411+451C>G (n.1411+451C>G) c.485+18743G>C (n.485+18743G>C) c.1158C>G (p.Asn386Lys) c.1473C>G (p.Asn491Lys) c.1428C>G (p.Asn476Lys) c.1335C>G (p.Asn445Lys) | |
9 | g.36222922G>T | CA373426648 | CLTA,GNE | c.1581C>A (p.Asn527Lys) c.1311C>A (p.Asn437Lys) c.1488C>A (p.Asn496Lys) c.1411+451C>A (n.1411+451C>A) c.485+18743G>T (n.485+18743G>T) c.1158C>A (p.Asn386Lys) c.1473C>A (p.Asn491Lys) c.1428C>A (p.Asn476Lys) c.1335C>A (p.Asn445Lys) | |
9 | g.36222923T>A | CA373426650 | CLTA,GNE | c.1580A>T (p.Asn527Ile) c.1310A>T (p.Asn437Ile) c.1487A>T (p.Asn496Ile) c.1411+450A>T (n.1411+450A>T) c.485+18744T>A (n.485+18744T>A) c.1157A>T (p.Asn386Ile) c.1472A>T (p.Asn491Ile) c.1427A>T (p.Asn476Ile) c.1334A>T (p.Asn445Ile) | |
9 | g.36222923T>C | CA373426652 | CLTA,GNE | c.1580A>G (p.Asn527Ser) c.1310A>G (p.Asn437Ser) c.1487A>G (p.Asn496Ser) c.1411+450A>G (n.1411+450A>G) c.485+18744T>C (n.485+18744T>C) c.1157A>G (p.Asn386Ser) c.1472A>G (p.Asn491Ser) c.1427A>G (p.Asn476Ser) c.1334A>G (p.Asn445Ser) | |
9 | g.36222923T>G | CA373426653 | CLTA,GNE | c.1580A>C (p.Asn527Thr) c.1310A>C (p.Asn437Thr) c.1487A>C (p.Asn496Thr) c.1411+450A>C (n.1411+450A>C) c.485+18744T>G (n.485+18744T>G) c.1157A>C (p.Asn386Thr) c.1472A>C (p.Asn491Thr) c.1427A>C (p.Asn476Thr) c.1334A>C (p.Asn445Thr) | |
9 | g.36222924T>A | CA373426655 | CLTA,GNE | c.1579A>T (p.Asn527Tyr) c.1309A>T (p.Asn437Tyr) c.1486A>T (p.Asn496Tyr) c.1411+449A>T (n.1411+449A>T) c.485+18745T>A (n.485+18745T>A) c.1156A>T (p.Asn386Tyr) c.1471A>T (p.Asn491Tyr) c.1426A>T (p.Asn476Tyr) c.1333A>T (p.Asn445Tyr) | |
9 | g.36222924T>C | CA373426656 | CLTA,GNE | c.1579A>G (p.Asn527Asp) c.1309A>G (p.Asn437Asp) c.1486A>G (p.Asn496Asp) c.1411+449A>G (n.1411+449A>G) c.485+18745T>C (n.485+18745T>C) c.1156A>G (p.Asn386Asp) c.1471A>G (p.Asn491Asp) c.1426A>G (p.Asn476Asp) c.1333A>G (p.Asn445Asp) | gnomAD v4 |
9 | g.36222924T>G | CA373426658 | CLTA,GNE | c.1579A>C (p.Asn527His) c.1309A>C (p.Asn437His) c.1486A>C (p.Asn496His) c.1411+449A>C (n.1411+449A>C) c.485+18745T>G (n.485+18745T>G) c.1156A>C (p.Asn386His) c.1471A>C (p.Asn491His) c.1426A>C (p.Asn476His) c.1333A>C (p.Asn445His) | |
9 | g.36222925C>A | CA373426665 | CLTA,GNE | c.1578G>T (p.Trp526Cys) c.1308G>T (p.Trp436Cys) c.1485G>T (p.Trp495Cys) c.1411+448G>T (n.1411+448G>T) c.485+18746C>A (n.485+18746C>A) c.1155G>T (p.Trp385Cys) c.1470G>T (p.Trp490Cys) c.1425G>T (p.Trp475Cys) c.1332G>T (p.Trp444Cys) | |
9 | g.36222925C= | CA1846333638 | CLTA,GNE | c.1578G= (p.Trp526=) c.1308G= (p.Trp436=) c.1485G= (p.Trp495=) c.1411+448G= (n.1411+448G=) c.485+18746C= (n.485+18746C=) c.1155G= (p.Trp385=) c.1470G= (p.Trp490=) c.1425G= (p.Trp475=) c.1332G= (p.Trp444=) | |
9 | g.36222925C>G | CA373426663 | CLTA,GNE | c.1578G>C (p.Trp526Cys) c.1308G>C (p.Trp436Cys) c.1485G>C (p.Trp495Cys) c.1411+448G>C (n.1411+448G>C) c.485+18746C>G (n.485+18746C>G) c.1155G>C (p.Trp385Cys) c.1470G>C (p.Trp490Cys) c.1425G>C (p.Trp475Cys) c.1332G>C (p.Trp444Cys) | |
9 | g.36222925C>T | CA373426660 | CLTA,GNE | c.1578G>A (p.Trp526Ter) c.1308G>A (p.Trp436Ter) c.1485G>A (p.Trp495Ter) c.1411+448G>A (n.1411+448G>A) c.485+18746C>T (n.485+18746C>T) c.1155G>A (p.Trp385Ter) c.1470G>A (p.Trp490Ter) c.1425G>A (p.Trp475Ter) c.1332G>A (p.Trp444Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36222926C>A | CA373426667 | CLTA,GNE | c.1577G>T (p.Trp526Leu) c.1307G>T (p.Trp436Leu) c.1484G>T (p.Trp495Leu) c.1411+447G>T (n.1411+447G>T) c.485+18747C>A (n.485+18747C>A) c.1154G>T (p.Trp385Leu) c.1469G>T (p.Trp490Leu) c.1424G>T (p.Trp475Leu) c.1331G>T (p.Trp444Leu) | |
9 | g.36222926C= | CA1846333648 | CLTA,GNE | c.1577G= (p.Trp526=) c.1307G= (p.Trp436=) c.1484G= (p.Trp495=) c.1411+447G= (n.1411+447G=) c.485+18747C= (n.485+18747C=) c.1154G= (p.Trp385=) c.1469G= (p.Trp490=) c.1424G= (p.Trp475=) c.1331G= (p.Trp444=) | |
9 | g.36222926C>G | CA373426668 | CLTA,GNE | c.1577G>C (p.Trp526Ser) c.1307G>C (p.Trp436Ser) c.1484G>C (p.Trp495Ser) c.1411+447G>C (n.1411+447G>C) c.485+18747C>G (n.485+18747C>G) c.1154G>C (p.Trp385Ser) c.1469G>C (p.Trp490Ser) c.1424G>C (p.Trp475Ser) c.1331G>C (p.Trp444Ser) | |
9 | g.36222926C>T | CA373426669 | CLTA,GNE | c.1577G>A (p.Trp526Ter) c.1307G>A (p.Trp436Ter) c.1484G>A (p.Trp495Ter) c.1411+447G>A (n.1411+447G>A) c.485+18747C>T (n.485+18747C>T) c.1154G>A (p.Trp385Ter) c.1469G>A (p.Trp490Ter) c.1424G>A (p.Trp475Ter) c.1331G>A (p.Trp444Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36222927A= | CA1846333658 | CLTA,GNE | c.1576T= (p.Trp526=) c.1306T= (p.Trp436=) c.1483T= (p.Trp495=) c.1411+446T= (n.1411+446T=) c.485+18748A= (n.485+18748A=) c.1153T= (p.Trp385=) c.1468T= (p.Trp490=) c.1423T= (p.Trp475=) c.1330T= (p.Trp444=) | |
9 | g.36222927A>C | CA373426671 | CLTA,GNE | c.1576T>G (p.Trp526Gly) c.1306T>G (p.Trp436Gly) c.1483T>G (p.Trp495Gly) c.1411+446T>G (n.1411+446T>G) c.485+18748A>C (n.485+18748A>C) c.1153T>G (p.Trp385Gly) c.1468T>G (p.Trp490Gly) c.1423T>G (p.Trp475Gly) c.1330T>G (p.Trp444Gly) | |
9 | g.36222927A>G | CA373426673 | CLTA,GNE | c.1576T>C (p.Trp526Arg) c.1306T>C (p.Trp436Arg) c.1483T>C (p.Trp495Arg) c.1411+446T>C (n.1411+446T>C) c.485+18748A>G (n.485+18748A>G) c.1153T>C (p.Trp385Arg) c.1468T>C (p.Trp490Arg) c.1423T>C (p.Trp475Arg) c.1330T>C (p.Trp444Arg) | |
9 | g.36222927A>T | CA373426675 | CLTA,GNE | c.1576T>A (p.Trp526Arg) c.1306T>A (p.Trp436Arg) c.1483T>A (p.Trp495Arg) c.1411+446T>A (n.1411+446T>A) c.485+18748A>T (n.485+18748A>T) c.1153T>A (p.Trp385Arg) c.1468T>A (p.Trp490Arg) c.1423T>A (p.Trp475Arg) c.1330T>A (p.Trp444Arg) | dbSNP |
9 | g.36222928C>A | CA373426677 | CLTA,GNE | c.1575G>T (p.Glu525Asp) c.1305G>T (p.Glu435Asp) c.1482G>T (p.Glu494Asp) c.1411+445G>T (n.1411+445G>T) c.485+18749C>A (n.485+18749C>A) c.1152G>T (p.Glu384Asp) c.1467G>T (p.Glu489Asp) c.1422G>T (p.Glu474Asp) c.1329G>T (p.Glu443Asp) | |
9 | g.36222928C= | CA1846333688 | CLTA,GNE | c.1575G= (p.Glu525=) c.1305G= (p.Glu435=) c.1482G= (p.Glu494=) c.1411+445G= (n.1411+445G=) c.485+18749C= (n.485+18749C=) c.1152G= (p.Glu384=) c.1467G= (p.Glu489=) c.1422G= (p.Glu474=) c.1329G= (p.Glu443=) | |
9 | g.36222928C>G | CA373426678 | CLTA,GNE | c.1575G>C (p.Glu525Asp) c.1305G>C (p.Glu435Asp) c.1482G>C (p.Glu494Asp) c.1411+445G>C (n.1411+445G>C) c.485+18749C>G (n.485+18749C>G) c.1152G>C (p.Glu384Asp) c.1467G>C (p.Glu489Asp) c.1422G>C (p.Glu474Asp) c.1329G>C (p.Glu443Asp) | |
9 | g.36222928C>T | CA464495243 | CLTA,GNE | c.1575G>A (p.Glu525=) c.1305G>A (p.Glu435=) c.1482G>A (p.Glu494=) c.1411+445G>A (n.1411+445G>A) c.485+18749C>T (n.485+18749C>T) c.1152G>A (p.Glu384=) c.1467G>A (p.Glu489=) c.1422G>A (p.Glu474=) c.1329G>A (p.Glu443=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.36222929T>A | CA373426681 | CLTA,GNE | c.1574A>T (p.Glu525Val) c.1304A>T (p.Glu435Val) c.1481A>T (p.Glu494Val) c.1411+444A>T (n.1411+444A>T) c.485+18750T>A (n.485+18750T>A) c.1151A>T (p.Glu384Val) c.1466A>T (p.Glu489Val) c.1421A>T (p.Glu474Val) c.1328A>T (p.Glu443Val) | |
9 | g.36222929T>C | CA373426684 | CLTA,GNE | c.1574A>G (p.Glu525Gly) c.1304A>G (p.Glu435Gly) c.1481A>G (p.Glu494Gly) c.1411+444A>G (n.1411+444A>G) c.485+18750T>C (n.485+18750T>C) c.1151A>G (p.Glu384Gly) c.1466A>G (p.Glu489Gly) c.1421A>G (p.Glu474Gly) c.1328A>G (p.Glu443Gly) | |
9 | g.36222929T>G | CA373426687 | CLTA,GNE | c.1574A>C (p.Glu525Ala) c.1304A>C (p.Glu435Ala) c.1481A>C (p.Glu494Ala) c.1411+444A>C (n.1411+444A>C) c.485+18750T>G (n.485+18750T>G) c.1151A>C (p.Glu384Ala) c.1466A>C (p.Glu489Ala) c.1421A>C (p.Glu474Ala) c.1328A>C (p.Glu443Ala) | |
9 | g.36222930C>A | CA373426693 | CLTA,GNE | c.1573G>T (p.Glu525Ter) c.1303G>T (p.Glu435Ter) c.1480G>T (p.Glu494Ter) c.1411+443G>T (n.1411+443G>T) c.485+18751C>A (n.485+18751C>A) c.1150G>T (p.Glu384Ter) c.1465G>T (p.Glu489Ter) c.1420G>T (p.Glu474Ter) c.1327G>T (p.Glu443Ter) | |
9 | g.36222930C>G | CA373426691 | CLTA,GNE | c.1573G>C (p.Glu525Gln) c.1303G>C (p.Glu435Gln) c.1480G>C (p.Glu494Gln) c.1411+443G>C (n.1411+443G>C) c.485+18751C>G (n.485+18751C>G) c.1150G>C (p.Glu384Gln) c.1465G>C (p.Glu489Gln) c.1420G>C (p.Glu474Gln) c.1327G>C (p.Glu443Gln) | gnomAD v4 |
9 | g.36222930C>T | CA373426690 | CLTA,GNE | c.1573G>A (p.Glu525Lys) c.1303G>A (p.Glu435Lys) c.1480G>A (p.Glu494Lys) c.1411+443G>A (n.1411+443G>A) c.485+18751C>T (n.485+18751C>T) c.1150G>A (p.Glu384Lys) c.1465G>A (p.Glu489Lys) c.1420G>A (p.Glu474Lys) c.1327G>A (p.Glu443Lys) | |
9 | g.36222931T>A | CA373426695 | CLTA,GNE | c.1572A>T (p.Gln524His) c.1302A>T (p.Gln434His) c.1479A>T (p.Gln493His) c.1411+442A>T (n.1411+442A>T) c.485+18752T>A (n.485+18752T>A) c.1149A>T (p.Gln383His) c.1464A>T (p.Gln488His) c.1419A>T (p.Gln473His) c.1326A>T (p.Gln442His) | |
9 | g.36222931T>C | CA464495244 | CLTA,GNE | c.1572A>G (p.Gln524=) c.1302A>G (p.Gln434=) c.1479A>G (p.Gln493=) c.1411+442A>G (n.1411+442A>G) c.485+18752T>C (n.485+18752T>C) c.1149A>G (p.Gln383=) c.1464A>G (p.Gln488=) c.1419A>G (p.Gln473=) c.1326A>G (p.Gln442=) | |
9 | g.36222931T>G | CA5056476 | CLTA,GNE | c.1572A>C (p.Gln524His) c.1302A>C (p.Gln434His) c.1479A>C (p.Gln493His) c.1411+442A>C (n.1411+442A>C) c.485+18752T>G (n.485+18752T>G) c.1149A>C (p.Gln383His) c.1464A>C (p.Gln488His) c.1419A>C (p.Gln473His) c.1326A>C (p.Gln442His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36222931T= | CA1846333694 | CLTA,GNE | c.1572A= (p.Gln524=) c.1302A= (p.Gln434=) c.1479A= (p.Gln493=) c.1411+442A= (n.1411+442A=) c.485+18752T= (n.485+18752T=) c.1149A= (p.Gln383=) c.1464A= (p.Gln488=) c.1419A= (p.Gln473=) c.1326A= (p.Gln442=) | |
9 | g.36222932T>A | CA373426699 | CLTA,GNE | c.1571A>T (p.Gln524Leu) c.1301A>T (p.Gln434Leu) c.1478A>T (p.Gln493Leu) c.1411+441A>T (n.1411+441A>T) c.485+18753T>A (n.485+18753T>A) c.1148A>T (p.Gln383Leu) c.1463A>T (p.Gln488Leu) c.1418A>T (p.Gln473Leu) c.1325A>T (p.Gln442Leu) | |
9 | g.36222932T>C | CA373426701 | CLTA,GNE | c.1571A>G (p.Gln524Arg) c.1301A>G (p.Gln434Arg) c.1478A>G (p.Gln493Arg) c.1411+441A>G (n.1411+441A>G) c.485+18753T>C (n.485+18753T>C) c.1148A>G (p.Gln383Arg) c.1463A>G (p.Gln488Arg) c.1418A>G (p.Gln473Arg) c.1325A>G (p.Gln442Arg) | |
9 | g.36222932T>G | CA373426704 | CLTA,GNE | c.1571A>C (p.Gln524Pro) c.1301A>C (p.Gln434Pro) c.1478A>C (p.Gln493Pro) c.1411+441A>C (n.1411+441A>C) c.485+18753T>G (n.485+18753T>G) c.1148A>C (p.Gln383Pro) c.1463A>C (p.Gln488Pro) c.1418A>C (p.Gln473Pro) c.1325A>C (p.Gln442Pro) | |
9 | g.36222933G>A | CA373426709 | CLTA,GNE | c.1570C>T (p.Gln524Ter) c.1300C>T (p.Gln434Ter) c.1477C>T (p.Gln493Ter) c.1411+440C>T (n.1411+440C>T) c.485+18754G>A (n.485+18754G>A) c.1147C>T (p.Gln383Ter) c.1462C>T (p.Gln488Ter) c.1417C>T (p.Gln473Ter) c.1324C>T (p.Gln442Ter) | |
9 | g.36222933G>C | CA373426712 | CLTA,GNE | c.1570C>G (p.Gln524Glu) c.1300C>G (p.Gln434Glu) c.1477C>G (p.Gln493Glu) c.1411+440C>G (n.1411+440C>G) c.485+18754G>C (n.485+18754G>C) c.1147C>G (p.Gln383Glu) c.1462C>G (p.Gln488Glu) c.1417C>G (p.Gln473Glu) c.1324C>G (p.Gln442Glu) | |
9 | g.36222933G>T | CA373426713 | CLTA,GNE | c.1570C>A (p.Gln524Lys) c.1300C>A (p.Gln434Lys) c.1477C>A (p.Gln493Lys) c.1411+440C>A (n.1411+440C>A) c.485+18754G>T (n.485+18754G>T) c.1147C>A (p.Gln383Lys) c.1462C>A (p.Gln488Lys) c.1417C>A (p.Gln473Lys) c.1324C>A (p.Gln442Lys) | COSMIC COSMIC COSMIC |
9 | g.36222934G>A | CA464495245 | CLTA,GNE | c.1569C>T (p.Ile523=) c.1299C>T (p.Ile433=) c.1476C>T (p.Ile492=) c.1411+439C>T (n.1411+439C>T) c.485+18755G>A (n.485+18755G>A) c.1146C>T (p.Ile382=) c.1461C>T (p.Ile487=) c.1416C>T (p.Ile472=) c.1323C>T (p.Ile441=) | ClinVar gnomAD v4 |
9 | g.36222934G>C | CA373426716 | CLTA,GNE | c.1569C>G (p.Ile523Met) c.1299C>G (p.Ile433Met) c.1476C>G (p.Ile492Met) c.1411+439C>G (n.1411+439C>G) c.485+18755G>C (n.485+18755G>C) c.1146C>G (p.Ile382Met) c.1461C>G (p.Ile487Met) c.1416C>G (p.Ile472Met) c.1323C>G (p.Ile441Met) | |
9 | g.36222934G>T | CA464495246 | CLTA,GNE | c.1569C>A (p.Ile523=) c.1299C>A (p.Ile433=) c.1476C>A (p.Ile492=) c.1411+439C>A (n.1411+439C>A) c.485+18755G>T (n.485+18755G>T) c.1146C>A (p.Ile382=) c.1461C>A (p.Ile487=) c.1416C>A (p.Ile472=) c.1323C>A (p.Ile441=) | |
9 | g.36222935A= | CA1846333704 | CLTA,GNE | c.1568T= (p.Ile523=) c.1298T= (p.Ile433=) c.1475T= (p.Ile492=) c.1411+438T= (n.1411+438T=) c.485+18756A= (n.485+18756A=) c.1145T= (p.Ile382=) c.1460T= (p.Ile487=) c.1415T= (p.Ile472=) c.1322T= (p.Ile441=) | |
9 | g.36222935A>C | CA373426718 | CLTA,GNE | c.1568T>G (p.Ile523Ser) c.1298T>G (p.Ile433Ser) c.1475T>G (p.Ile492Ser) c.1411+438T>G (n.1411+438T>G) c.485+18756A>C (n.485+18756A>C) c.1145T>G (p.Ile382Ser) c.1460T>G (p.Ile487Ser) c.1415T>G (p.Ile472Ser) c.1322T>G (p.Ile441Ser) | |
9 | g.36222935A>G | CA373426720 | CLTA,GNE | c.1568T>C (p.Ile523Thr) c.1298T>C (p.Ile433Thr) c.1475T>C (p.Ile492Thr) c.1411+438T>C (n.1411+438T>C) c.485+18756A>G (n.485+18756A>G) c.1145T>C (p.Ile382Thr) c.1460T>C (p.Ile487Thr) c.1415T>C (p.Ile472Thr) c.1322T>C (p.Ile441Thr) | |
9 | g.36222935A>T | CA373426721 | CLTA,GNE | c.1568T>A (p.Ile523Asn) c.1298T>A (p.Ile433Asn) c.1475T>A (p.Ile492Asn) c.1411+438T>A (n.1411+438T>A) c.485+18756A>T (n.485+18756A>T) c.1145T>A (p.Ile382Asn) c.1460T>A (p.Ile487Asn) c.1415T>A (p.Ile472Asn) c.1322T>A (p.Ile441Asn) | ClinVar dbSNP gnomAD v4 |
9 | g.36222936T>A | CA373426726 | CLTA,GNE | c.1567A>T (p.Ile523Phe) c.1297A>T (p.Ile433Phe) c.1474A>T (p.Ile492Phe) c.1411+437A>T (n.1411+437A>T) c.485+18757T>A (n.485+18757T>A) c.1144A>T (p.Ile382Phe) c.1459A>T (p.Ile487Phe) c.1414A>T (p.Ile472Phe) c.1321A>T (p.Ile441Phe) | |
9 | g.36222936T>C | CA373426725 | CLTA,GNE | c.1567A>G (p.Ile523Val) c.1297A>G (p.Ile433Val) c.1474A>G (p.Ile492Val) c.1411+437A>G (n.1411+437A>G) c.485+18757T>C (n.485+18757T>C) c.1144A>G (p.Ile382Val) c.1459A>G (p.Ile487Val) c.1414A>G (p.Ile472Val) c.1321A>G (p.Ile441Val) | |
9 | g.36222936T>G | CA373426723 | CLTA,GNE | c.1567A>C (p.Ile523Leu) c.1297A>C (p.Ile433Leu) c.1474A>C (p.Ile492Leu) c.1411+437A>C (n.1411+437A>C) c.485+18757T>G (n.485+18757T>G) c.1144A>C (p.Ile382Leu) c.1459A>C (p.Ile487Leu) c.1414A>C (p.Ile472Leu) c.1321A>C (p.Ile441Leu) | gnomAD v4 |
9 | g.36222937C>A | CA464495247 | CLTA,GNE | c.1566G>T (p.Leu522=) c.1296G>T (p.Leu432=) c.1473G>T (p.Leu491=) c.1411+436G>T (n.1411+436G>T) c.485+18758C>A (n.485+18758C>A) c.1143G>T (p.Leu381=) c.1458G>T (p.Leu486=) c.1413G>T (p.Leu471=) c.1320G>T (p.Leu440=) | |
9 | g.36222937C>G | CA464495248 | CLTA,GNE | c.1566G>C (p.Leu522=) c.1296G>C (p.Leu432=) c.1473G>C (p.Leu491=) c.1411+436G>C (n.1411+436G>C) c.485+18758C>G (n.485+18758C>G) c.1143G>C (p.Leu381=) c.1458G>C (p.Leu486=) c.1413G>C (p.Leu471=) c.1320G>C (p.Leu440=) | |
9 | g.36222937C>T | CA464495249 | CLTA,GNE | c.1566G>A (p.Leu522=) c.1296G>A (p.Leu432=) c.1473G>A (p.Leu491=) c.1411+436G>A (n.1411+436G>A) c.485+18758C>T (n.485+18758C>T) c.1143G>A (p.Leu381=) c.1458G>A (p.Leu486=) c.1413G>A (p.Leu471=) c.1320G>A (p.Leu440=) | gnomAD v4 |
9 | g.36222938A>C | CA373426728 | CLTA,GNE | c.1565T>G (p.Leu522Arg) c.1295T>G (p.Leu432Arg) c.1472T>G (p.Leu491Arg) c.1411+435T>G (n.1411+435T>G) c.485+18759A>C (n.485+18759A>C) c.1142T>G (p.Leu381Arg) c.1457T>G (p.Leu486Arg) c.1412T>G (p.Leu471Arg) c.1319T>G (p.Leu440Arg) | |
9 | g.36222938A>G | CA373426734 | CLTA,GNE | c.1565T>C (p.Leu522Pro) c.1295T>C (p.Leu432Pro) c.1472T>C (p.Leu491Pro) c.1411+435T>C (n.1411+435T>C) c.485+18759A>G (n.485+18759A>G) c.1142T>C (p.Leu381Pro) c.1457T>C (p.Leu486Pro) c.1412T>C (p.Leu471Pro) c.1319T>C (p.Leu440Pro) | |
9 | g.36222938A>T | CA373426735 | CLTA,GNE | c.1565T>A (p.Leu522Gln) c.1295T>A (p.Leu432Gln) c.1472T>A (p.Leu491Gln) c.1411+435T>A (n.1411+435T>A) c.485+18759A>T (n.485+18759A>T) c.1142T>A (p.Leu381Gln) c.1457T>A (p.Leu486Gln) c.1412T>A (p.Leu471Gln) c.1319T>A (p.Leu440Gln) | |
9 | g.36222939G>A | CA464495250 | CLTA,GNE | c.1564C>T (p.Leu522=) c.1294C>T (p.Leu432=) c.1471C>T (p.Leu491=) c.1411+434C>T (n.1411+434C>T) c.485+18760G>A (n.485+18760G>A) c.1141C>T (p.Leu381=) c.1456C>T (p.Leu486=) c.1411C>T (p.Leu471=) c.1318C>T (p.Leu440=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.36222939G>C | CA373426739 | CLTA,GNE | c.1564C>G (p.Leu522Val) c.1294C>G (p.Leu432Val) c.1471C>G (p.Leu491Val) c.1411+434C>G (n.1411+434C>G) c.485+18760G>C (n.485+18760G>C) c.1141C>G (p.Leu381Val) c.1456C>G (p.Leu486Val) c.1411C>G (p.Leu471Val) c.1318C>G (p.Leu440Val) | |
9 | g.36222939G= | CA1846333708 | CLTA,GNE | c.1564C= (p.Leu522=) c.1294C= (p.Leu432=) c.1471C= (p.Leu491=) c.1411+434C= (n.1411+434C=) c.485+18760G= (n.485+18760G=) c.1141C= (p.Leu381=) c.1456C= (p.Leu486=) c.1411C= (p.Leu471=) c.1318C= (p.Leu440=) | |
9 | g.36222939G>T | CA373426740 | CLTA,GNE | c.1564C>A (p.Leu522Met) c.1294C>A (p.Leu432Met) c.1471C>A (p.Leu491Met) c.1411+434C>A (n.1411+434C>A) c.485+18760G>T (n.485+18760G>T) c.1141C>A (p.Leu381Met) c.1456C>A (p.Leu486Met) c.1411C>A (p.Leu471Met) c.1318C>A (p.Leu440Met) | |
9 | g.36222940T>A | CA373426744 | CLTA,GNE | c.1563A>T (p.Lys521Asn) c.1293A>T (p.Lys431Asn) c.1470A>T (p.Lys490Asn) c.1411+433A>T (n.1411+433A>T) c.485+18761T>A (n.485+18761T>A) c.1140A>T (p.Lys380Asn) c.1455A>T (p.Lys485Asn) c.1410A>T (p.Lys470Asn) c.1317A>T (p.Lys439Asn) | |
9 | g.36222940T>C | CA464495251 | CLTA,GNE | c.1563A>G (p.Lys521=) c.1293A>G (p.Lys431=) c.1470A>G (p.Lys490=) c.1411+433A>G (n.1411+433A>G) c.485+18761T>C (n.485+18761T>C) c.1140A>G (p.Lys380=) c.1455A>G (p.Lys485=) c.1410A>G (p.Lys470=) c.1317A>G (p.Lys439=) | ClinVar gnomAD v4 |
9 | g.36222940T>G | CA373426745 | CLTA,GNE | c.1563A>C (p.Lys521Asn) c.1293A>C (p.Lys431Asn) c.1470A>C (p.Lys490Asn) c.1411+433A>C (n.1411+433A>C) c.485+18761T>G (n.485+18761T>G) c.1140A>C (p.Lys380Asn) c.1455A>C (p.Lys485Asn) c.1410A>C (p.Lys470Asn) c.1317A>C (p.Lys439Asn) | |
9 | g.36222941T>A | CA373426746 | CLTA,GNE | c.1562A>T (p.Lys521Ile) c.1292A>T (p.Lys431Ile) c.1469A>T (p.Lys490Ile) c.1411+432A>T (n.1411+432A>T) c.485+18762T>A (n.485+18762T>A) c.1139A>T (p.Lys380Ile) c.1454A>T (p.Lys485Ile) c.1409A>T (p.Lys470Ile) c.1316A>T (p.Lys439Ile) | |
9 | g.36222941T>C | CA373426747 | CLTA,GNE | c.1562A>G (p.Lys521Arg) c.1292A>G (p.Lys431Arg) c.1469A>G (p.Lys490Arg) c.1411+432A>G (n.1411+432A>G) c.485+18762T>C (n.485+18762T>C) c.1139A>G (p.Lys380Arg) c.1454A>G (p.Lys485Arg) c.1409A>G (p.Lys470Arg) c.1316A>G (p.Lys439Arg) | |
9 | g.36222941T>G | CA373426749 | CLTA,GNE | c.1562A>C (p.Lys521Thr) c.1292A>C (p.Lys431Thr) c.1469A>C (p.Lys490Thr) c.1411+432A>C (n.1411+432A>C) c.485+18762T>G (n.485+18762T>G) c.1139A>C (p.Lys380Thr) c.1454A>C (p.Lys485Thr) c.1409A>C (p.Lys470Thr) c.1316A>C (p.Lys439Thr) | |
9 | g.36222942T>A | CA373426751 | CLTA,GNE | c.1561A>T (p.Lys521Ter) c.1291A>T (p.Lys431Ter) c.1468A>T (p.Lys490Ter) c.1411+431A>T (n.1411+431A>T) c.485+18763T>A (n.485+18763T>A) c.1138A>T (p.Lys380Ter) c.1453A>T (p.Lys485Ter) c.1408A>T (p.Lys470Ter) c.1315A>T (p.Lys439Ter) | ClinVar dbSNP gnomAD v4 |
9 | g.36222942T>C | CA373426752 | CLTA,GNE | c.1561A>G (p.Lys521Glu) c.1291A>G (p.Lys431Glu) c.1468A>G (p.Lys490Glu) c.1411+431A>G (n.1411+431A>G) c.485+18763T>C (n.485+18763T>C) c.1138A>G (p.Lys380Glu) c.1453A>G (p.Lys485Glu) c.1408A>G (p.Lys470Glu) c.1315A>G (p.Lys439Glu) | |
9 | g.36222942T>G | CA373426753 | CLTA,GNE | c.1561A>C (p.Lys521Gln) c.1291A>C (p.Lys431Gln) c.1468A>C (p.Lys490Gln) c.1411+431A>C (n.1411+431A>C) c.485+18763T>G (n.485+18763T>G) c.1138A>C (p.Lys380Gln) c.1453A>C (p.Lys485Gln) c.1408A>C (p.Lys470Gln) c.1315A>C (p.Lys439Gln) | |
9 | g.36222942T= | CA1846333719 | CLTA,GNE | c.1561A= (p.Lys521=) c.1291A= (p.Lys431=) c.1468A= (p.Lys490=) c.1411+431A= (n.1411+431A=) c.485+18763T= (n.485+18763T=) c.1138A= (p.Lys380=) c.1453A= (p.Lys485=) c.1408A= (p.Lys470=) c.1315A= (p.Lys439=) | |
9 | g.36222943G>A | CA464495252 | CLTA,GNE | c.1560C>T (p.Thr520=) c.1290C>T (p.Thr430=) c.1467C>T (p.Thr489=) c.1411+430C>T (n.1411+430C>T) c.485+18764G>A (n.485+18764G>A) c.1137C>T (p.Thr379=) c.1452C>T (p.Thr484=) c.1407C>T (p.Thr469=) c.1314C>T (p.Thr438=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.36222943G>C | CA464495254 | CLTA,GNE | c.1560C>G (p.Thr520=) c.1290C>G (p.Thr430=) c.1467C>G (p.Thr489=) c.1411+430C>G (n.1411+430C>G) c.485+18764G>C (n.485+18764G>C) c.1137C>G (p.Thr379=) c.1452C>G (p.Thr484=) c.1407C>G (p.Thr469=) c.1314C>G (p.Thr438=) | |
9 | g.36222943G= | CA1846333726 | CLTA,GNE | c.1560C= (p.Thr520=) c.1290C= (p.Thr430=) c.1467C= (p.Thr489=) c.1411+430C= (n.1411+430C=) c.485+18764G= (n.485+18764G=) c.1137C= (p.Thr379=) c.1452C= (p.Thr484=) c.1407C= (p.Thr469=) c.1314C= (p.Thr438=) | |
9 | g.36222943G>T | CA464495253 | CLTA,GNE | c.1560C>A (p.Thr520=) c.1290C>A (p.Thr430=) c.1467C>A (p.Thr489=) c.1411+430C>A (n.1411+430C>A) c.485+18764G>T (n.485+18764G>T) c.1137C>A (p.Thr379=) c.1452C>A (p.Thr484=) c.1407C>A (p.Thr469=) c.1314C>A (p.Thr438=) | |
9 | g.36222944G>A | CA373426760 | CLTA,GNE | c.1559C>T (p.Thr520Ile) c.1289C>T (p.Thr430Ile) c.1466C>T (p.Thr489Ile) c.1411+429C>T (n.1411+429C>T) c.485+18765G>A (n.485+18765G>A) c.1136C>T (p.Thr379Ile) c.1451C>T (p.Thr484Ile) c.1406C>T (p.Thr469Ile) c.1313C>T (p.Thr438Ile) | ClinVar |
9 | g.36222944G>C | CA373426758 | CLTA,GNE | c.1559C>G (p.Thr520Ser) c.1289C>G (p.Thr430Ser) c.1466C>G (p.Thr489Ser) c.1411+429C>G (n.1411+429C>G) c.485+18765G>C (n.485+18765G>C) c.1136C>G (p.Thr379Ser) c.1451C>G (p.Thr484Ser) c.1406C>G (p.Thr469Ser) c.1313C>G (p.Thr438Ser) | |
9 | g.36222944G>T | CA373426756 | CLTA,GNE | c.1559C>A (p.Thr520Asn) c.1289C>A (p.Thr430Asn) c.1466C>A (p.Thr489Asn) c.1411+429C>A (n.1411+429C>A) c.485+18765G>T (n.485+18765G>T) c.1136C>A (p.Thr379Asn) c.1451C>A (p.Thr484Asn) c.1406C>A (p.Thr469Asn) c.1313C>A (p.Thr438Asn) | |
9 | g.36222945T>A | CA373426762 | CLTA,GNE | c.1558A>T (p.Thr520Ser) c.1288A>T (p.Thr430Ser) c.1465A>T (p.Thr489Ser) c.1411+428A>T (n.1411+428A>T) c.485+18766T>A (n.485+18766T>A) c.1135A>T (p.Thr379Ser) c.1450A>T (p.Thr484Ser) c.1405A>T (p.Thr469Ser) c.1312A>T (p.Thr438Ser) | |
9 | g.36222945T>C | CA373426761 | CLTA,GNE | c.1558A>G (p.Thr520Ala) c.1288A>G (p.Thr430Ala) c.1465A>G (p.Thr489Ala) c.1411+428A>G (n.1411+428A>G) c.485+18766T>C (n.485+18766T>C) c.1135A>G (p.Thr379Ala) c.1450A>G (p.Thr484Ala) c.1405A>G (p.Thr469Ala) c.1312A>G (p.Thr438Ala) | |
9 | g.36222945T>G | CA373426763 | CLTA,GNE | c.1558A>C (p.Thr520Pro) c.1288A>C (p.Thr430Pro) c.1465A>C (p.Thr489Pro) c.1411+428A>C (n.1411+428A>C) c.485+18766T>G (n.485+18766T>G) c.1135A>C (p.Thr379Pro) c.1450A>C (p.Thr484Pro) c.1405A>C (p.Thr469Pro) c.1312A>C (p.Thr438Pro) | |
9 | g.36222946T>A | CA464495255 | CLTA,GNE | c.1557A>T (p.Ser519=) c.1287A>T (p.Ser429=) c.1464A>T (p.Ser488=) c.1411+427A>T (n.1411+427A>T) c.485+18767T>A (n.485+18767T>A) c.1134A>T (p.Ser378=) c.1449A>T (p.Ser483=) c.1404A>T (p.Ser468=) c.1311A>T (p.Ser437=) | |
9 | g.36222946T>C | CA5056477 | CLTA,GNE | c.1557A>G (p.Ser519=) c.1287A>G (p.Ser429=) c.1464A>G (p.Ser488=) c.1411+427A>G (n.1411+427A>G) c.485+18767T>C (n.485+18767T>C) c.1134A>G (p.Ser378=) c.1449A>G (p.Ser483=) c.1404A>G (p.Ser468=) c.1311A>G (p.Ser437=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36222946T>G | CA464495256 | CLTA,GNE | c.1557A>C (p.Ser519=) c.1287A>C (p.Ser429=) c.1464A>C (p.Ser488=) c.1411+427A>C (n.1411+427A>C) c.485+18767T>G (n.485+18767T>G) c.1134A>C (p.Ser378=) c.1449A>C (p.Ser483=) c.1404A>C (p.Ser468=) c.1311A>C (p.Ser437=) | |
9 | g.36222946T= | CA1846333733 | CLTA,GNE | c.1557A= (p.Ser519=) c.1287A= (p.Ser429=) c.1464A= (p.Ser488=) c.1411+427A= (n.1411+427A=) c.485+18767T= (n.485+18767T=) c.1134A= (p.Ser378=) c.1449A= (p.Ser483=) c.1404A= (p.Ser468=) c.1311A= (p.Ser437=) | |
9 | g.36222947G>A | CA373426765 | CLTA,GNE | c.1556C>T (p.Ser519Leu) c.1286C>T (p.Ser429Leu) c.1463C>T (p.Ser488Leu) c.1411+426C>T (n.1411+426C>T) c.485+18768G>A (n.485+18768G>A) c.1133C>T (p.Ser378Leu) c.1448C>T (p.Ser483Leu) c.1403C>T (p.Ser468Leu) c.1310C>T (p.Ser437Leu) | |
9 | g.36222947G>C | CA373426764 | CLTA,GNE | c.1556C>G (p.Ser519Ter) c.1286C>G (p.Ser429Ter) c.1463C>G (p.Ser488Ter) c.1411+426C>G (n.1411+426C>G) c.485+18768G>C (n.485+18768G>C) c.1133C>G (p.Ser378Ter) c.1448C>G (p.Ser483Ter) c.1403C>G (p.Ser468Ter) c.1310C>G (p.Ser437Ter) | |
9 | g.36222947G>T | CA373426766 | CLTA,GNE | c.1556C>A (p.Ser519Ter) c.1286C>A (p.Ser429Ter) c.1463C>A (p.Ser488Ter) c.1411+426C>A (n.1411+426C>A) c.485+18768G>T (n.485+18768G>T) c.1133C>A (p.Ser378Ter) c.1448C>A (p.Ser483Ter) c.1403C>A (p.Ser468Ter) c.1310C>A (p.Ser437Ter) | |
9 | g.36222948A>C | CA373426767 | CLTA,GNE | c.1555T>G (p.Ser519Ala) c.1285T>G (p.Ser429Ala) c.1462T>G (p.Ser488Ala) c.1411+425T>G (n.1411+425T>G) c.485+18769A>C (n.485+18769A>C) c.1132T>G (p.Ser378Ala) c.1447T>G (p.Ser483Ala) c.1402T>G (p.Ser468Ala) c.1309T>G (p.Ser437Ala) | gnomAD v4 |
9 | g.36222948A>G | CA373426768 | CLTA,GNE | c.1555T>C (p.Ser519Pro) c.1285T>C (p.Ser429Pro) c.1462T>C (p.Ser488Pro) c.1411+425T>C (n.1411+425T>C) c.485+18769A>G (n.485+18769A>G) c.1132T>C (p.Ser378Pro) c.1447T>C (p.Ser483Pro) c.1402T>C (p.Ser468Pro) c.1309T>C (p.Ser437Pro) | |
9 | g.36222948A>T | CA373426769 | CLTA,GNE | c.1555T>A (p.Ser519Thr) c.1285T>A (p.Ser429Thr) c.1462T>A (p.Ser488Thr) c.1411+425T>A (n.1411+425T>A) c.485+18769A>T (n.485+18769A>T) c.1132T>A (p.Ser378Thr) c.1447T>A (p.Ser483Thr) c.1402T>A (p.Ser468Thr) c.1309T>A (p.Ser437Thr) | |
9 | g.36222949A>C | CA373426770 | CLTA,GNE | c.1554T>G (p.His518Gln) c.1284T>G (p.His428Gln) c.1461T>G (p.His487Gln) c.1411+424T>G (n.1411+424T>G) c.485+18770A>C (n.485+18770A>C) c.1131T>G (p.His377Gln) c.1446T>G (p.His482Gln) c.1401T>G (p.His467Gln) c.1308T>G (p.His436Gln) | |
9 | g.36222949A>G | CA464495257 | CLTA,GNE | c.1554T>C (p.His518=) c.1284T>C (p.His428=) c.1461T>C (p.His487=) c.1411+424T>C (n.1411+424T>C) c.485+18770A>G (n.485+18770A>G) c.1131T>C (p.His377=) c.1446T>C (p.His482=) c.1401T>C (p.His467=) c.1308T>C (p.His436=) | ClinVar |
9 | g.36222949A>T | CA373426771 | CLTA,GNE | c.1554T>A (p.His518Gln) c.1284T>A (p.His428Gln) c.1461T>A (p.His487Gln) c.1411+424T>A (n.1411+424T>A) c.485+18770A>T (n.485+18770A>T) c.1131T>A (p.His377Gln) c.1446T>A (p.His482Gln) c.1401T>A (p.His467Gln) c.1308T>A (p.His436Gln) | gnomAD v4 |
9 | g.36222950T>A | CA373426772 | CLTA,GNE | c.1553A>T (p.His518Leu) c.1283A>T (p.His428Leu) c.1460A>T (p.His487Leu) c.1411+423A>T (n.1411+423A>T) c.485+18771T>A (n.485+18771T>A) c.1130A>T (p.His377Leu) c.1445A>T (p.His482Leu) c.1400A>T (p.His467Leu) c.1307A>T (p.His436Leu) | |
9 | g.36222950T>C | CA373426773 | CLTA,GNE | c.1553A>G (p.His518Arg) c.1283A>G (p.His428Arg) c.1460A>G (p.His487Arg) c.1411+423A>G (n.1411+423A>G) c.485+18771T>C (n.485+18771T>C) c.1130A>G (p.His377Arg) c.1445A>G (p.His482Arg) c.1400A>G (p.His467Arg) c.1307A>G (p.His436Arg) | ClinVar dbSNP gnomAD v4 |
9 | g.36222950T>G | CA373426774 | CLTA,GNE | c.1553A>C (p.His518Pro) c.1283A>C (p.His428Pro) c.1460A>C (p.His487Pro) c.1411+423A>C (n.1411+423A>C) c.485+18771T>G (n.485+18771T>G) c.1130A>C (p.His377Pro) c.1445A>C (p.His482Pro) c.1400A>C (p.His467Pro) c.1307A>C (p.His436Pro) | gnomAD v4 |
9 | g.36222950T= | CA1846333739 | CLTA,GNE | c.1553A= (p.His518=) c.1283A= (p.His428=) c.1460A= (p.His487=) c.1411+423A= (n.1411+423A=) c.485+18771T= (n.485+18771T=) c.1130A= (p.His377=) c.1445A= (p.His482=) c.1400A= (p.His467=) c.1307A= (p.His436=) | |
9 | g.36222951G>A | CA373426775 | CLTA,GNE | c.1552C>T (p.His518Tyr) c.1282C>T (p.His428Tyr) c.1459C>T (p.His487Tyr) c.1411+422C>T (n.1411+422C>T) c.485+18772G>A (n.485+18772G>A) c.1129C>T (p.His377Tyr) c.1444C>T (p.His482Tyr) c.1399C>T (p.His467Tyr) c.1306C>T (p.His436Tyr) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.36222951G>C | CA373426776 | CLTA,GNE | c.1552C>G (p.His518Asp) c.1282C>G (p.His428Asp) c.1459C>G (p.His487Asp) c.1411+422C>G (n.1411+422C>G) c.485+18772G>C (n.485+18772G>C) c.1129C>G (p.His377Asp) c.1444C>G (p.His482Asp) c.1399C>G (p.His467Asp) c.1306C>G (p.His436Asp) | |
9 | g.36222951G= | CA1846333743 | CLTA,GNE | c.1552C= (p.His518=) c.1282C= (p.His428=) c.1459C= (p.His487=) c.1411+422C= (n.1411+422C=) c.485+18772G= (n.485+18772G=) c.1129C= (p.His377=) c.1444C= (p.His482=) c.1399C= (p.His467=) c.1306C= (p.His436=) | |
9 | g.36222951G>T | CA373426778 | CLTA,GNE | c.1552C>A (p.His518Asn) c.1282C>A (p.His428Asn) c.1459C>A (p.His487Asn) c.1411+422C>A (n.1411+422C>A) c.485+18772G>T (n.485+18772G>T) c.1129C>A (p.His377Asn) c.1444C>A (p.His482Asn) c.1399C>A (p.His467Asn) c.1306C>A (p.His436Asn) | |
9 | g.36222952C>A | CA464495258 | CLTA,GNE | c.1551G>T (p.Leu517=) c.1281G>T (p.Leu427=) c.1458G>T (p.Leu486=) c.1411+421G>T (n.1411+421G>T) c.485+18773C>A (n.485+18773C>A) c.1128G>T (p.Leu376=) c.1443G>T (p.Leu481=) c.1398G>T (p.Leu466=) c.1305G>T (p.Leu435=) | |
9 | g.36222952C>G | CA464495259 | CLTA,GNE | c.1551G>C (p.Leu517=) c.1281G>C (p.Leu427=) c.1458G>C (p.Leu486=) c.1411+421G>C (n.1411+421G>C) c.485+18773C>G (n.485+18773C>G) c.1128G>C (p.Leu376=) c.1443G>C (p.Leu481=) c.1398G>C (p.Leu466=) c.1305G>C (p.Leu435=) | |
9 | g.36222952C>T | CA464495260 | CLTA,GNE | c.1551G>A (p.Leu517=) c.1281G>A (p.Leu427=) c.1458G>A (p.Leu486=) c.1411+421G>A (n.1411+421G>A) c.485+18773C>T (n.485+18773C>T) c.1128G>A (p.Leu376=) c.1443G>A (p.Leu481=) c.1398G>A (p.Leu466=) c.1305G>A (p.Leu435=) | |
9 | g.36222953A= | CA1846333764 | CLTA,GNE | c.1550T= (p.Leu517=) c.1280T= (p.Leu427=) c.1457T= (p.Leu486=) c.1411+420T= (n.1411+420T=) c.485+18774A= (n.485+18774A=) c.1127T= (p.Leu376=) c.1442T= (p.Leu481=) c.1397T= (p.Leu466=) c.1304T= (p.Leu435=) | |
9 | g.36222953A>C | CA373426785 | CLTA,GNE | c.1550T>G (p.Leu517Arg) c.1280T>G (p.Leu427Arg) c.1457T>G (p.Leu486Arg) c.1411+420T>G (n.1411+420T>G) c.485+18774A>C (n.485+18774A>C) c.1127T>G (p.Leu376Arg) c.1442T>G (p.Leu481Arg) c.1397T>G (p.Leu466Arg) c.1304T>G (p.Leu435Arg) | COSMIC COSMIC COSMIC |
9 | g.36222953A>G | CA5056478 | CLTA,GNE | c.1550T>C (p.Leu517Pro) c.1280T>C (p.Leu427Pro) c.1457T>C (p.Leu486Pro) c.1411+420T>C (n.1411+420T>C) c.485+18774A>G (n.485+18774A>G) c.1127T>C (p.Leu376Pro) c.1442T>C (p.Leu481Pro) c.1397T>C (p.Leu466Pro) c.1304T>C (p.Leu435Pro) | ClinVar dbSNP ExAC gnomAD v2 |
9 | g.36222953A>T | CA373426779 | CLTA,GNE | c.1550T>A (p.Leu517Gln) c.1280T>A (p.Leu427Gln) c.1457T>A (p.Leu486Gln) c.1411+420T>A (n.1411+420T>A) c.485+18774A>T (n.485+18774A>T) c.1127T>A (p.Leu376Gln) c.1442T>A (p.Leu481Gln) c.1397T>A (p.Leu466Gln) c.1304T>A (p.Leu435Gln) | |
9 | g.36222954G>A | CA464495261 | CLTA,GNE | c.1549C>T (p.Leu517=) c.1279C>T (p.Leu427=) c.1456C>T (p.Leu486=) c.1411+419C>T (n.1411+419C>T) c.485+18775G>A (n.485+18775G>A) c.1126C>T (p.Leu376=) c.1441C>T (p.Leu481=) c.1396C>T (p.Leu466=) c.1303C>T (p.Leu435=) | |
9 | g.36222954G>C | CA373426786 | CLTA,GNE | c.1549C>G (p.Leu517Val) c.1279C>G (p.Leu427Val) c.1456C>G (p.Leu486Val) c.1411+419C>G (n.1411+419C>G) c.485+18775G>C (n.485+18775G>C) c.1126C>G (p.Leu376Val) c.1441C>G (p.Leu481Val) c.1396C>G (p.Leu466Val) c.1303C>G (p.Leu435Val) | |
9 | g.36222954G>T | CA373426787 | CLTA,GNE | c.1549C>A (p.Leu517Met) c.1279C>A (p.Leu427Met) c.1456C>A (p.Leu486Met) c.1411+419C>A (n.1411+419C>A) c.485+18775G>T (n.485+18775G>T) c.1126C>A (p.Leu376Met) c.1441C>A (p.Leu481Met) c.1396C>A (p.Leu466Met) c.1303C>A (p.Leu435Met) | |
9 | g.36222955C>A | CA464495262 | CLTA,GNE | c.1548G>T (p.Val516=) c.1278G>T (p.Val426=) c.1455G>T (p.Val485=) c.1411+418G>T (n.1411+418G>T) c.485+18776C>A (n.485+18776C>A) c.1125G>T (p.Val375=) c.1440G>T (p.Val480=) c.1395G>T (p.Val465=) c.1302G>T (p.Val434=) | |
9 | g.36222955C>G | CA464495264 | CLTA,GNE | c.1548G>C (p.Val516=) c.1278G>C (p.Val426=) c.1455G>C (p.Val485=) c.1411+418G>C (n.1411+418G>C) c.485+18776C>G (n.485+18776C>G) c.1125G>C (p.Val375=) c.1440G>C (p.Val480=) c.1395G>C (p.Val465=) c.1302G>C (p.Val434=) | |
9 | g.36222955C>T | CA464495263 | CLTA,GNE | c.1548G>A (p.Val516=) c.1278G>A (p.Val426=) c.1455G>A (p.Val485=) c.1411+418G>A (n.1411+418G>A) c.485+18776C>T (n.485+18776C>T) c.1125G>A (p.Val375=) c.1440G>A (p.Val480=) c.1395G>A (p.Val465=) c.1302G>A (p.Val434=) | |
9 | g.36222956A= | CA1846333770 | CLTA,GNE | c.1547T= (p.Val516=) c.1277T= (p.Val426=) c.1454T= (p.Val485=) c.1411+417T= (n.1411+417T=) c.485+18777A= (n.485+18777A=) c.1124T= (p.Val375=) c.1439T= (p.Val480=) c.1394T= (p.Val465=) c.1301T= (p.Val434=) | |
9 | g.36222956A>C | CA373426789 | CLTA,GNE | c.1547T>G (p.Val516Gly) c.1277T>G (p.Val426Gly) c.1454T>G (p.Val485Gly) c.1411+417T>G (n.1411+417T>G) c.485+18777A>C (n.485+18777A>C) c.1124T>G (p.Val375Gly) c.1439T>G (p.Val480Gly) c.1394T>G (p.Val465Gly) c.1301T>G (p.Val434Gly) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.36222956A>G | CA373426797 | CLTA,GNE | c.1547T>C (p.Val516Ala) c.1277T>C (p.Val426Ala) c.1454T>C (p.Val485Ala) c.1411+417T>C (n.1411+417T>C) c.485+18777A>G (n.485+18777A>G) c.1124T>C (p.Val375Ala) c.1439T>C (p.Val480Ala) c.1394T>C (p.Val465Ala) c.1301T>C (p.Val434Ala) | |
9 | g.36222956A>T | CA373426799 | CLTA,GNE | c.1547T>A (p.Val516Glu) c.1277T>A (p.Val426Glu) c.1454T>A (p.Val485Glu) c.1411+417T>A (n.1411+417T>A) c.485+18777A>T (n.485+18777A>T) c.1124T>A (p.Val375Glu) c.1439T>A (p.Val480Glu) c.1394T>A (p.Val465Glu) c.1301T>A (p.Val434Glu) | |
9 | g.36222956_36222957delinsCT | CA2824998271 | CLTA,GNE | c.1546_1547delinsAG (p.Val516Arg) c.1276_1277delinsAG (p.Val426Arg) c.1453_1454delinsAG (p.Val485Arg) c.1411+416_1411+417delinsAG (n.1411+416_1411+417delinsAG) c.485+18777_485+18778delinsCT (n.485+18777_485+18778delinsCT) c.1123_1124delinsAG (p.Val375Arg) c.1438_1439delinsAG (p.Val480Arg) c.1393_1394delinsAG (p.Val465Arg) c.1300_1301delinsAG (p.Val434Arg) | |
9 | g.36222957C>A | CA373426801 | CLTA,GNE | c.1546G>T (p.Val516Leu) c.1276G>T (p.Val426Leu) c.1453G>T (p.Val485Leu) c.1411+416G>T (n.1411+416G>T) c.485+18778C>A (n.485+18778C>A) c.1123G>T (p.Val375Leu) c.1438G>T (p.Val480Leu) c.1393G>T (p.Val465Leu) c.1300G>T (p.Val434Leu) | |
9 | g.36222957C= | CA1846333773 | CLTA,GNE | c.1546G= (p.Val516=) c.1276G= (p.Val426=) c.1453G= (p.Val485=) c.1411+416G= (n.1411+416G=) c.485+18778C= (n.485+18778C=) c.1123G= (p.Val375=) c.1438G= (p.Val480=) c.1393G= (p.Val465=) c.1300G= (p.Val434=) | |
9 | g.36222957C>G | CA373426802 | CLTA,GNE | c.1546G>C (p.Val516Leu) c.1276G>C (p.Val426Leu) c.1453G>C (p.Val485Leu) c.1411+416G>C (n.1411+416G>C) c.485+18778C>G (n.485+18778C>G) c.1123G>C (p.Val375Leu) c.1438G>C (p.Val480Leu) c.1393G>C (p.Val465Leu) c.1300G>C (p.Val434Leu) | |
9 | g.36222957C>T | CA373426805 | CLTA,GNE | c.1546G>A (p.Val516Met) c.1276G>A (p.Val426Met) c.1453G>A (p.Val485Met) c.1411+416G>A (n.1411+416G>A) c.485+18778C>T (n.485+18778C>T) c.1123G>A (p.Val375Met) c.1438G>A (p.Val480Met) c.1393G>A (p.Val465Met) c.1300G>A (p.Val434Met) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.36222958A>C | CA373426806 | CLTA,GNE | c.1545T>G (p.Ile515Met) c.1275T>G (p.Ile425Met) c.1452T>G (p.Ile484Met) c.1411+415T>G (n.1411+415T>G) c.485+18779A>C (n.485+18779A>C) c.1122T>G (p.Ile374Met) c.1437T>G (p.Ile479Met) c.1392T>G (p.Ile464Met) c.1299T>G (p.Ile433Met) | |
9 | g.36222958A>G | CA464495265 | CLTA,GNE | c.1545T>C (p.Ile515=) c.1275T>C (p.Ile425=) c.1452T>C (p.Ile484=) c.1411+415T>C (n.1411+415T>C) c.485+18779A>G (n.485+18779A>G) c.1122T>C (p.Ile374=) c.1437T>C (p.Ile479=) c.1392T>C (p.Ile464=) c.1299T>C (p.Ile433=) | |
9 | g.36222958A>T | CA464495266 | CLTA,GNE | c.1545T>A (p.Ile515=) c.1275T>A (p.Ile425=) c.1452T>A (p.Ile484=) c.1411+415T>A (n.1411+415T>A) c.485+18779A>T (n.485+18779A>T) c.1122T>A (p.Ile374=) c.1437T>A (p.Ile479=) c.1392T>A (p.Ile464=) c.1299T>A (p.Ile433=) | |
9 | g.36222959A>C | CA373426808 | CLTA,GNE | c.1544T>G (p.Ile515Ser) c.1274T>G (p.Ile425Ser) c.1451T>G (p.Ile484Ser) c.1411+414T>G (n.1411+414T>G) c.485+18780A>C (n.485+18780A>C) c.1121T>G (p.Ile374Ser) c.1436T>G (p.Ile479Ser) c.1391T>G (p.Ile464Ser) c.1298T>G (p.Ile433Ser) | |
9 | g.36222959A>G | CA373426816 | CLTA,GNE | c.1544T>C (p.Ile515Thr) c.1274T>C (p.Ile425Thr) c.1451T>C (p.Ile484Thr) c.1411+414T>C (n.1411+414T>C) c.485+18780A>G (n.485+18780A>G) c.1121T>C (p.Ile374Thr) c.1436T>C (p.Ile479Thr) c.1391T>C (p.Ile464Thr) c.1298T>C (p.Ile433Thr) | gnomAD v4 |
9 | g.36222959A>T | CA373426820 | CLTA,GNE | c.1544T>A (p.Ile515Asn) c.1274T>A (p.Ile425Asn) c.1451T>A (p.Ile484Asn) c.1411+414T>A (n.1411+414T>A) c.485+18780A>T (n.485+18780A>T) c.1121T>A (p.Ile374Asn) c.1436T>A (p.Ile479Asn) c.1391T>A (p.Ile464Asn) c.1298T>A (p.Ile433Asn) | |
9 | g.36222960T>A | CA373426827 | CLTA,GNE | c.1543A>T (p.Ile515Phe) c.1273A>T (p.Ile425Phe) c.1450A>T (p.Ile484Phe) c.1411+413A>T (n.1411+413A>T) c.485+18781T>A (n.485+18781T>A) c.1120A>T (p.Ile374Phe) c.1435A>T (p.Ile479Phe) c.1390A>T (p.Ile464Phe) c.1297A>T (p.Ile433Phe) | |
9 | g.36222960T>C | CA373426824 | CLTA,GNE | c.1543A>G (p.Ile515Val) c.1273A>G (p.Ile425Val) c.1450A>G (p.Ile484Val) c.1411+413A>G (n.1411+413A>G) c.485+18781T>C (n.485+18781T>C) c.1120A>G (p.Ile374Val) c.1435A>G (p.Ile479Val) c.1390A>G (p.Ile464Val) c.1297A>G (p.Ile433Val) | gnomAD v3 gnomAD v4 |
9 | g.36222960T>G | CA373426822 | CLTA,GNE | c.1543A>C (p.Ile515Leu) c.1273A>C (p.Ile425Leu) c.1450A>C (p.Ile484Leu) c.1411+413A>C (n.1411+413A>C) c.485+18781T>G (n.485+18781T>G) c.1120A>C (p.Ile374Leu) c.1435A>C (p.Ile479Leu) c.1390A>C (p.Ile464Leu) c.1297A>C (p.Ile433Leu) | |
9 | g.36222961T>A | CA464495267 | CLTA,GNE | c.1542A>T (p.Gly514=) c.1272A>T (p.Gly424=) c.1449A>T (p.Gly483=) c.1411+412A>T (n.1411+412A>T) c.485+18782T>A (n.485+18782T>A) c.1119A>T (p.Gly373=) c.1434A>T (p.Gly478=) c.1389A>T (p.Gly463=) c.1296A>T (p.Gly432=) | |
9 | g.36222961T>C | CA464495268 | CLTA,GNE | c.1542A>G (p.Gly514=) c.1272A>G (p.Gly424=) c.1449A>G (p.Gly483=) c.1411+412A>G (n.1411+412A>G) c.485+18782T>C (n.485+18782T>C) c.1119A>G (p.Gly373=) c.1434A>G (p.Gly478=) c.1389A>G (p.Gly463=) c.1296A>G (p.Gly432=) | |
9 | g.36222961T>G | CA464495269 | CLTA,GNE | c.1542A>C (p.Gly514=) c.1272A>C (p.Gly424=) c.1449A>C (p.Gly483=) c.1411+412A>C (n.1411+412A>C) c.485+18782T>G (n.485+18782T>G) c.1119A>C (p.Gly373=) c.1434A>C (p.Gly478=) c.1389A>C (p.Gly463=) c.1296A>C (p.Gly432=) | |
9 | g.36222962C>A | CA373426829 | CLTA,GNE | c.1541G>T (p.Gly514Val) c.1271G>T (p.Gly424Val) c.1448G>T (p.Gly483Val) c.1411+411G>T (n.1411+411G>T) c.485+18783C>A (n.485+18783C>A) c.1118G>T (p.Gly373Val) c.1433G>T (p.Gly478Val) c.1388G>T (p.Gly463Val) c.1295G>T (p.Gly432Val) | |
9 | g.36222962C>G | CA373426831 | CLTA,GNE | c.1541G>C (p.Gly514Ala) c.1271G>C (p.Gly424Ala) c.1448G>C (p.Gly483Ala) c.1411+411G>C (n.1411+411G>C) c.485+18783C>G (n.485+18783C>G) c.1118G>C (p.Gly373Ala) c.1433G>C (p.Gly478Ala) c.1388G>C (p.Gly463Ala) c.1295G>C (p.Gly432Ala) | |
9 | g.36222962C>T | CA373426833 | CLTA,GNE | c.1541G>A (p.Gly514Glu) c.1271G>A (p.Gly424Glu) c.1448G>A (p.Gly483Glu) c.1411+411G>A (n.1411+411G>A) c.485+18783C>T (n.485+18783C>T) c.1118G>A (p.Gly373Glu) c.1433G>A (p.Gly478Glu) c.1388G>A (p.Gly463Glu) c.1295G>A (p.Gly432Glu) | COSMIC COSMIC COSMIC |
9 | g.36222963C>A | CA373426834 | CLTA,GNE | c.1540G>T (p.Gly514Ter) c.1270G>T (p.Gly424Ter) c.1447G>T (p.Gly483Ter) c.1411+410G>T (n.1411+410G>T) c.485+18784C>A (n.485+18784C>A) c.1117G>T (p.Gly373Ter) c.1432G>T (p.Gly478Ter) c.1387G>T (p.Gly463Ter) c.1294G>T (p.Gly432Ter) | |
9 | g.36222963C>G | CA373426838 | CLTA,GNE | c.1540G>C (p.Gly514Arg) c.1270G>C (p.Gly424Arg) c.1447G>C (p.Gly483Arg) c.1411+410G>C (n.1411+410G>C) c.485+18784C>G (n.485+18784C>G) c.1117G>C (p.Gly373Arg) c.1432G>C (p.Gly478Arg) c.1387G>C (p.Gly463Arg) c.1294G>C (p.Gly432Arg) | |
9 | g.36222963C>T | CA373426841 | CLTA,GNE | c.1540G>A (p.Gly514Arg) c.1270G>A (p.Gly424Arg) c.1447G>A (p.Gly483Arg) c.1411+410G>A (n.1411+410G>A) c.485+18784C>T (n.485+18784C>T) c.1117G>A (p.Gly373Arg) c.1432G>A (p.Gly478Arg) c.1387G>A (p.Gly463Arg) c.1294G>A (p.Gly432Arg) | ClinVar dbSNP |
9 | g.36222964T>A | CA373426844 | CLTA,GNE | c.1539A>T (p.Glu513Asp) c.1269A>T (p.Glu423Asp) c.1446A>T (p.Glu482Asp) c.1411+409A>T (n.1411+409A>T) c.485+18785T>A (n.485+18785T>A) c.1116A>T (p.Glu372Asp) c.1431A>T (p.Glu477Asp) c.1386A>T (p.Glu462Asp) c.1293A>T (p.Glu431Asp) | |
9 | g.36222964T>C | CA464495270 | CLTA,GNE | c.1539A>G (p.Glu513=) c.1269A>G (p.Glu423=) c.1446A>G (p.Glu482=) c.1411+409A>G (n.1411+409A>G) c.485+18785T>C (n.485+18785T>C) c.1116A>G (p.Glu372=) c.1431A>G (p.Glu477=) c.1386A>G (p.Glu462=) c.1293A>G (p.Glu431=) | |
9 | g.36222964T>G | CA373426842 | CLTA,GNE | c.1539A>C (p.Glu513Asp) c.1269A>C (p.Glu423Asp) c.1446A>C (p.Glu482Asp) c.1411+409A>C (n.1411+409A>C) c.485+18785T>G (n.485+18785T>G) c.1116A>C (p.Glu372Asp) c.1431A>C (p.Glu477Asp) c.1386A>C (p.Glu462Asp) c.1293A>C (p.Glu431Asp) | |
9 | g.36222965T>A | CA373426847 | CLTA,GNE | c.1538A>T (p.Glu513Val) c.1268A>T (p.Glu423Val) c.1445A>T (p.Glu482Val) c.1411+408A>T (n.1411+408A>T) c.485+18786T>A (n.485+18786T>A) c.1115A>T (p.Glu372Val) c.1430A>T (p.Glu477Val) c.1385A>T (p.Glu462Val) c.1292A>T (p.Glu431Val) | gnomAD v4 |
9 | g.36222965T>C | CA373426850 | CLTA,GNE | c.1538A>G (p.Glu513Gly) c.1268A>G (p.Glu423Gly) c.1445A>G (p.Glu482Gly) c.1411+408A>G (n.1411+408A>G) c.485+18786T>C (n.485+18786T>C) c.1115A>G (p.Glu372Gly) c.1430A>G (p.Glu477Gly) c.1385A>G (p.Glu462Gly) c.1292A>G (p.Glu431Gly) | |
9 | g.36222965T>G | CA373426852 | CLTA,GNE | c.1538A>C (p.Glu513Ala) c.1268A>C (p.Glu423Ala) c.1445A>C (p.Glu482Ala) c.1411+408A>C (n.1411+408A>C) c.485+18786T>G (n.485+18786T>G) c.1115A>C (p.Glu372Ala) c.1430A>C (p.Glu477Ala) c.1385A>C (p.Glu462Ala) c.1292A>C (p.Glu431Ala) | |
9 | g.36222966C>A | CA373426854 | CLTA,GNE | c.1537G>T (p.Glu513Ter) c.1267G>T (p.Glu423Ter) c.1444G>T (p.Glu482Ter) c.1411+407G>T (n.1411+407G>T) c.485+18787C>A (n.485+18787C>A) c.1114G>T (p.Glu372Ter) c.1429G>T (p.Glu477Ter) c.1384G>T (p.Glu462Ter) c.1291G>T (p.Glu431Ter) | |
9 | g.36222966C>G | CA373426856 | CLTA,GNE | c.1537G>C (p.Glu513Gln) c.1267G>C (p.Glu423Gln) c.1444G>C (p.Glu482Gln) c.1411+407G>C (n.1411+407G>C) c.485+18787C>G (n.485+18787C>G) c.1114G>C (p.Glu372Gln) c.1429G>C (p.Glu477Gln) c.1384G>C (p.Glu462Gln) c.1291G>C (p.Glu431Gln) | |
9 | g.36222966C>T | CA373426857 | CLTA,GNE | c.1537G>A (p.Glu513Lys) c.1267G>A (p.Glu423Lys) c.1444G>A (p.Glu482Lys) c.1411+407G>A (n.1411+407G>A) c.485+18787C>T (n.485+18787C>T) c.1114G>A (p.Glu372Lys) c.1429G>A (p.Glu477Lys) c.1384G>A (p.Glu462Lys) c.1291G>A (p.Glu431Lys) | |
9 | g.36222967C>A | CA464495271 | CLTA,GNE | c.1536G>T (p.Arg512=) c.1266G>T (p.Arg422=) c.1443G>T (p.Arg481=) c.1411+406G>T (n.1411+406G>T) c.485+18788C>A (n.485+18788C>A) c.1113G>T (p.Arg371=) c.1428G>T (p.Arg476=) c.1383G>T (p.Arg461=) c.1290G>T (p.Arg430=) | |
9 | g.36222967C= | CA1846333776 | CLTA,GNE | c.1536G= (p.Arg512=) c.1266G= (p.Arg422=) c.1443G= (p.Arg481=) c.1411+406G= (n.1411+406G=) c.485+18788C= (n.485+18788C=) c.1113G= (p.Arg371=) c.1428G= (p.Arg476=) c.1383G= (p.Arg461=) c.1290G= (p.Arg430=) | |
9 | g.36222967C>G | CA464495273 | CLTA,GNE | c.1536G>C (p.Arg512=) c.1266G>C (p.Arg422=) c.1443G>C (p.Arg481=) c.1411+406G>C (n.1411+406G>C) c.485+18788C>G (n.485+18788C>G) c.1113G>C (p.Arg371=) c.1428G>C (p.Arg476=) c.1383G>C (p.Arg461=) c.1290G>C (p.Arg430=) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.36222967C>T | CA464495272 | CLTA,GNE | c.1536G>A (p.Arg512=) c.1266G>A (p.Arg422=) c.1443G>A (p.Arg481=) c.1411+406G>A (n.1411+406G>A) c.485+18788C>T (n.485+18788C>T) c.1113G>A (p.Arg371=) c.1428G>A (p.Arg476=) c.1383G>A (p.Arg461=) c.1290G>A (p.Arg430=) | |
9 | g.36222968C>A | CA373426859 | CLTA,GNE | c.1535G>T (p.Arg512Leu) c.1265G>T (p.Arg422Leu) c.1442G>T (p.Arg481Leu) c.1411+405G>T (n.1411+405G>T) c.485+18789C>A (n.485+18789C>A) c.1112G>T (p.Arg371Leu) c.1427G>T (p.Arg476Leu) c.1382G>T (p.Arg461Leu) c.1289G>T (p.Arg430Leu) | |
9 | g.36222968C= | CA1846333784 | CLTA,GNE | c.1535G= (p.Arg512=) c.1265G= (p.Arg422=) c.1442G= (p.Arg481=) c.1411+405G= (n.1411+405G=) c.485+18789C= (n.485+18789C=) c.1112G= (p.Arg371=) c.1427G= (p.Arg476=) c.1382G= (p.Arg461=) c.1289G= (p.Arg430=) | |
9 | g.36222968C>G | CA373426861 | CLTA,GNE | c.1535G>C (p.Arg512Pro) c.1265G>C (p.Arg422Pro) c.1442G>C (p.Arg481Pro) c.1411+405G>C (n.1411+405G>C) c.485+18789C>G (n.485+18789C>G) c.1112G>C (p.Arg371Pro) c.1427G>C (p.Arg476Pro) c.1382G>C (p.Arg461Pro) c.1289G>C (p.Arg430Pro) | |
9 | g.36222968C>T | CA5056479 | CLTA,GNE | c.1535G>A (p.Arg512Gln) c.1265G>A (p.Arg422Gln) c.1442G>A (p.Arg481Gln) c.1411+405G>A (n.1411+405G>A) c.485+18789C>T (n.485+18789C>T) c.1112G>A (p.Arg371Gln) c.1427G>A (p.Arg476Gln) c.1382G>A (p.Arg461Gln) c.1289G>A (p.Arg430Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36222969G>A | CA5056480 | CLTA,GNE | c.1534C>T (p.Arg512Trp) c.1264C>T (p.Arg422Trp) c.1441C>T (p.Arg481Trp) c.1411+404C>T (n.1411+404C>T) c.485+18790G>A (n.485+18790G>A) c.1111C>T (p.Arg371Trp) c.1426C>T (p.Arg476Trp) c.1381C>T (p.Arg461Trp) c.1288C>T (p.Arg430Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.36222969G>C | CA373426864 | CLTA,GNE | c.1534C>G (p.Arg512Gly) c.1264C>G (p.Arg422Gly) c.1441C>G (p.Arg481Gly) c.1411+404C>G (n.1411+404C>G) c.485+18790G>C (n.485+18790G>C) c.1111C>G (p.Arg371Gly) c.1426C>G (p.Arg476Gly) c.1381C>G (p.Arg461Gly) c.1288C>G (p.Arg430Gly) | dbSNP |
9 | g.36222969G= | CA1846333795 | CLTA,GNE | c.1534C= (p.Arg512=) c.1264C= (p.Arg422=) c.1441C= (p.Arg481=) c.1411+404C= (n.1411+404C=) c.485+18790G= (n.485+18790G=) c.1111C= (p.Arg371=) c.1426C= (p.Arg476=) c.1381C= (p.Arg461=) c.1288C= (p.Arg430=) | |
9 | g.36222969G>T | CA464495274 | CLTA,GNE | c.1534C>A (p.Arg512=) c.1264C>A (p.Arg422=) c.1441C>A (p.Arg481=) c.1411+404C>A (n.1411+404C>A) c.485+18790G>T (n.485+18790G>T) c.1111C>A (p.Arg371=) c.1426C>A (p.Arg476=) c.1381C>A (p.Arg461=) c.1288C>A (p.Arg430=) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.36222970A>C | CA464495275 | CLTA,GNE | c.1533T>G (p.Pro511=) c.1263T>G (p.Pro421=) c.1440T>G (p.Pro480=) c.1411+403T>G (n.1411+403T>G) c.485+18791A>C (n.485+18791A>C) c.1110T>G (p.Pro370=) c.1425T>G (p.Pro475=) c.1380T>G (p.Pro460=) c.1287T>G (p.Pro429=) | |
9 | g.36222970A>G | CA464495276 | CLTA,GNE | c.1533T>C (p.Pro511=) c.1263T>C (p.Pro421=) c.1440T>C (p.Pro480=) c.1411+403T>C (n.1411+403T>C) c.485+18791A>G (n.485+18791A>G) c.1110T>C (p.Pro370=) c.1425T>C (p.Pro475=) c.1380T>C (p.Pro460=) c.1287T>C (p.Pro429=) | |
9 | g.36222970A>T | CA464495277 | CLTA,GNE | c.1533T>A (p.Pro511=) c.1263T>A (p.Pro421=) c.1440T>A (p.Pro480=) c.1411+403T>A (n.1411+403T>A) c.485+18791A>T (n.485+18791A>T) c.1110T>A (p.Pro370=) c.1425T>A (p.Pro475=) c.1380T>A (p.Pro460=) c.1287T>A (p.Pro429=) | |
9 | g.36222971G>A | CA373426866 | CLTA,GNE | c.1532C>T (p.Pro511Leu) c.1262C>T (p.Pro421Leu) c.1439C>T (p.Pro480Leu) c.1411+402C>T (n.1411+402C>T) c.485+18792G>A (n.485+18792G>A) c.1109C>T (p.Pro370Leu) c.1424C>T (p.Pro475Leu) c.1379C>T (p.Pro460Leu) c.1286C>T (p.Pro429Leu) | gnomAD v4 |
9 | g.36222971G>C | CA373426868 | CLTA,GNE | c.1532C>G (p.Pro511Arg) c.1262C>G (p.Pro421Arg) c.1439C>G (p.Pro480Arg) c.1411+402C>G (n.1411+402C>G) c.485+18792G>C (n.485+18792G>C) c.1109C>G (p.Pro370Arg) c.1424C>G (p.Pro475Arg) c.1379C>G (p.Pro460Arg) c.1286C>G (p.Pro429Arg) | |
9 | g.36222971G>T | CA373426869 | CLTA,GNE | c.1532C>A (p.Pro511His) c.1262C>A (p.Pro421His) c.1439C>A (p.Pro480His) c.1411+402C>A (n.1411+402C>A) c.485+18792G>T (n.485+18792G>T) c.1109C>A (p.Pro370His) c.1424C>A (p.Pro475His) c.1379C>A (p.Pro460His) c.1286C>A (p.Pro429His) | |
9 | g.36222972G>A | CA373426871 | CLTA,GNE | c.1531C>T (p.Pro511Ser) c.1261C>T (p.Pro421Ser) c.1438C>T (p.Pro480Ser) c.1411+401C>T (n.1411+401C>T) c.485+18793G>A (n.485+18793G>A) c.1108C>T (p.Pro370Ser) c.1423C>T (p.Pro475Ser) c.1378C>T (p.Pro460Ser) c.1285C>T (p.Pro429Ser) | |
9 | g.36222972G>C | CA373426873 | CLTA,GNE | c.1531C>G (p.Pro511Ala) c.1261C>G (p.Pro421Ala) c.1438C>G (p.Pro480Ala) c.1411+401C>G (n.1411+401C>G) c.485+18793G>C (n.485+18793G>C) c.1108C>G (p.Pro370Ala) c.1423C>G (p.Pro475Ala) c.1378C>G (p.Pro460Ala) c.1285C>G (p.Pro429Ala) | |
9 | g.36222972G>T | CA373426878 | CLTA,GNE | c.1531C>A (p.Pro511Thr) c.1261C>A (p.Pro421Thr) c.1438C>A (p.Pro480Thr) c.1411+401C>A (n.1411+401C>A) c.485+18793G>T (n.485+18793G>T) c.1108C>A (p.Pro370Thr) c.1423C>A (p.Pro475Thr) c.1378C>A (p.Pro460Thr) c.1285C>A (p.Pro429Thr) | |
9 | g.36222973A>C | CA373426879 | CLTA,GNE | c.1530T>G (p.Asn510Lys) c.1260T>G (p.Asn420Lys) c.1437T>G (p.Asn479Lys) c.1411+400T>G (n.1411+400T>G) c.485+18794A>C (n.485+18794A>C) c.1107T>G (p.Asn369Lys) c.1422T>G (p.Asn474Lys) c.1377T>G (p.Asn459Lys) c.1284T>G (p.Asn428Lys) | |
9 | g.36222973A>G | CA464495278 | CLTA,GNE | c.1530T>C (p.Asn510=) c.1260T>C (p.Asn420=) c.1437T>C (p.Asn479=) c.1411+400T>C (n.1411+400T>C) c.485+18794A>G (n.485+18794A>G) c.1107T>C (p.Asn369=) c.1422T>C (p.Asn474=) c.1377T>C (p.Asn459=) c.1284T>C (p.Asn428=) | |
9 | g.36222973A>T | CA373426883 | CLTA,GNE | c.1530T>A (p.Asn510Lys) c.1260T>A (p.Asn420Lys) c.1437T>A (p.Asn479Lys) c.1411+400T>A (n.1411+400T>A) c.485+18794A>T (n.485+18794A>T) c.1107T>A (p.Asn369Lys) c.1422T>A (p.Asn474Lys) c.1377T>A (p.Asn459Lys) c.1284T>A (p.Asn428Lys) | |
9 | g.36222974T>A | CA373426891 | CLTA,GNE | c.1529A>T (p.Asn510Ile) c.1259A>T (p.Asn420Ile) c.1436A>T (p.Asn479Ile) c.1411+399A>T (n.1411+399A>T) c.485+18795T>A (n.485+18795T>A) c.1106A>T (p.Asn369Ile) c.1421A>T (p.Asn474Ile) c.1376A>T (p.Asn459Ile) c.1283A>T (p.Asn428Ile) | |
9 | g.36222974T>C | CA192843649 | CLTA,GNE | c.1529A>G (p.Asn510Ser) c.1259A>G (p.Asn420Ser) c.1436A>G (p.Asn479Ser) c.1411+399A>G (n.1411+399A>G) c.485+18795T>C (n.485+18795T>C) c.1106A>G (p.Asn369Ser) c.1421A>G (p.Asn474Ser) c.1376A>G (p.Asn459Ser) c.1283A>G (p.Asn428Ser) | dbSNP |
9 | g.36222974T>G | CA373426886 | CLTA,GNE | c.1529A>C (p.Asn510Thr) c.1259A>C (p.Asn420Thr) c.1436A>C (p.Asn479Thr) c.1411+399A>C (n.1411+399A>C) c.485+18795T>G (n.485+18795T>G) c.1106A>C (p.Asn369Thr) c.1421A>C (p.Asn474Thr) c.1376A>C (p.Asn459Thr) c.1283A>C (p.Asn428Thr) | |
9 | g.36222974T= | CA1846333806 | CLTA,GNE | c.1529A= (p.Asn510=) c.1259A= (p.Asn420=) c.1436A= (p.Asn479=) c.1411+399A= (n.1411+399A=) c.485+18795T= (n.485+18795T=) c.1106A= (p.Asn369=) c.1421A= (p.Asn474=) c.1376A= (p.Asn459=) c.1283A= (p.Asn428=) | |
9 | g.36222975T>A | CA373426895 | CLTA,GNE | c.1528A>T (p.Asn510Tyr) c.1258A>T (p.Asn420Tyr) c.1435A>T (p.Asn479Tyr) c.1411+398A>T (n.1411+398A>T) c.485+18796T>A (n.485+18796T>A) c.1105A>T (p.Asn369Tyr) c.1420A>T (p.Asn474Tyr) c.1375A>T (p.Asn459Tyr) c.1282A>T (p.Asn428Tyr) | |
9 | g.36222975T>C | CA373426897 | CLTA,GNE | c.1528A>G (p.Asn510Asp) c.1258A>G (p.Asn420Asp) c.1435A>G (p.Asn479Asp) c.1411+398A>G (n.1411+398A>G) c.485+18796T>C (n.485+18796T>C) c.1105A>G (p.Asn369Asp) c.1420A>G (p.Asn474Asp) c.1375A>G (p.Asn459Asp) c.1282A>G (p.Asn428Asp) | |
9 | g.36222975T>G | CA373426902 | CLTA,GNE | c.1528A>C (p.Asn510His) c.1258A>C (p.Asn420His) c.1435A>C (p.Asn479His) c.1411+398A>C (n.1411+398A>C) c.485+18796T>G (n.485+18796T>G) c.1105A>C (p.Asn369His) c.1420A>C (p.Asn474His) c.1375A>C (p.Asn459His) c.1282A>C (p.Asn428His) | |
9 | g.36222976T>A | CA464495279 | CLTA,GNE | c.1527A>T (p.Val509=) c.1257A>T (p.Val419=) c.1434A>T (p.Val478=) c.1411+397A>T (n.1411+397A>T) c.485+18797T>A (n.485+18797T>A) c.1104A>T (p.Val368=) c.1419A>T (p.Val473=) c.1374A>T (p.Val458=) c.1281A>T (p.Val427=) | |
9 | g.36222976T>C | CA464495280 | CLTA,GNE | c.1527A>G (p.Val509=) c.1257A>G (p.Val419=) c.1434A>G (p.Val478=) c.1411+397A>G (n.1411+397A>G) c.485+18797T>C (n.485+18797T>C) c.1104A>G (p.Val368=) c.1419A>G (p.Val473=) c.1374A>G (p.Val458=) c.1281A>G (p.Val427=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.36222976T>G | CA464495281 | CLTA,GNE | c.1527A>C (p.Val509=) c.1257A>C (p.Val419=) c.1434A>C (p.Val478=) c.1411+397A>C (n.1411+397A>C) c.485+18797T>G (n.485+18797T>G) c.1104A>C (p.Val368=) c.1419A>C (p.Val473=) c.1374A>C (p.Val458=) c.1281A>C (p.Val427=) | |
9 | g.36222976T= | CA1846333813 | CLTA,GNE | c.1527A= (p.Val509=) c.1257A= (p.Val419=) c.1434A= (p.Val478=) c.1411+397A= (n.1411+397A=) c.485+18797T= (n.485+18797T=) c.1104A= (p.Val368=) c.1419A= (p.Val473=) c.1374A= (p.Val458=) c.1281A= (p.Val427=) | |
9 | g.36222977A>C | CA373426909 | CLTA,GNE | c.1526T>G (p.Val509Gly) c.1256T>G (p.Val419Gly) c.1433T>G (p.Val478Gly) c.1411+396T>G (n.1411+396T>G) c.485+18798A>C (n.485+18798A>C) c.1103T>G (p.Val368Gly) c.1418T>G (p.Val473Gly) c.1373T>G (p.Val458Gly) c.1280T>G (p.Val427Gly) | |
9 | g.36222977A>G | CA373426910 | CLTA,GNE | c.1526T>C (p.Val509Ala) c.1256T>C (p.Val419Ala) c.1433T>C (p.Val478Ala) c.1411+396T>C (n.1411+396T>C) c.485+18798A>G (n.485+18798A>G) c.1103T>C (p.Val368Ala) c.1418T>C (p.Val473Ala) c.1373T>C (p.Val458Ala) c.1280T>C (p.Val427Ala) | |
9 | g.36222977A>T | CA373426911 | CLTA,GNE | c.1526T>A (p.Val509Glu) c.1256T>A (p.Val419Glu) c.1433T>A (p.Val478Glu) c.1411+396T>A (n.1411+396T>A) c.485+18798A>T (n.485+18798A>T) c.1103T>A (p.Val368Glu) c.1418T>A (p.Val473Glu) c.1373T>A (p.Val458Glu) c.1280T>A (p.Val427Glu) | |
9 | g.36222978C>A | CA373426915 | CLTA,GNE | c.1525G>T (p.Val509Leu) c.1255G>T (p.Val419Leu) c.1432G>T (p.Val478Leu) c.1411+395G>T (n.1411+395G>T) c.485+18799C>A (n.485+18799C>A) c.1102G>T (p.Val368Leu) c.1417G>T (p.Val473Leu) c.1372G>T (p.Val458Leu) c.1279G>T (p.Val427Leu) | |
9 | g.36222978C>G | CA373426913 | CLTA,GNE | c.1525G>C (p.Val509Leu) c.1255G>C (p.Val419Leu) c.1432G>C (p.Val478Leu) c.1411+395G>C (n.1411+395G>C) c.485+18799C>G (n.485+18799C>G) c.1102G>C (p.Val368Leu) c.1417G>C (p.Val473Leu) c.1372G>C (p.Val458Leu) c.1279G>C (p.Val427Leu) | |
9 | g.36222978C>T | CA373426912 | CLTA,GNE | c.1525G>A (p.Val509Ile) c.1255G>A (p.Val419Ile) c.1432G>A (p.Val478Ile) c.1411+395G>A (n.1411+395G>A) c.485+18799C>T (n.485+18799C>T) c.1102G>A (p.Val368Ile) c.1417G>A (p.Val473Ile) c.1372G>A (p.Val458Ile) c.1279G>A (p.Val427Ile) | |
9 | g.36222979A>C | CA464495282 | CLTA,GNE | c.1524T>G (p.Arg508=) c.1254T>G (p.Arg418=) c.1431T>G (p.Arg477=) c.1411+394T>G (n.1411+394T>G) c.485+18800A>C (n.485+18800A>C) c.1101T>G (p.Arg367=) c.1416T>G (p.Arg472=) c.1371T>G (p.Arg457=) c.1278T>G (p.Arg426=) | |
9 | g.36222979A>G | CA464495283 | CLTA,GNE | c.1524T>C (p.Arg508=) c.1254T>C (p.Arg418=) c.1431T>C (p.Arg477=) c.1411+394T>C (n.1411+394T>C) c.485+18800A>G (n.485+18800A>G) c.1101T>C (p.Arg367=) c.1416T>C (p.Arg472=) c.1371T>C (p.Arg457=) c.1278T>C (p.Arg426=) | |
9 | g.36222979A>T | CA464495284 | CLTA,GNE | c.1524T>A (p.Arg508=) c.1254T>A (p.Arg418=) c.1431T>A (p.Arg477=) c.1411+394T>A (n.1411+394T>A) c.485+18800A>T (n.485+18800A>T) c.1101T>A (p.Arg367=) c.1416T>A (p.Arg472=) c.1371T>A (p.Arg457=) c.1278T>A (p.Arg426=) | |
9 | g.36222980C>A | CA373426919 | CLTA,GNE | c.1523G>T (p.Arg508Leu) c.1253G>T (p.Arg418Leu) c.1430G>T (p.Arg477Leu) c.1411+393G>T (n.1411+393G>T) c.485+18801C>A (n.485+18801C>A) c.1100G>T (p.Arg367Leu) c.1415G>T (p.Arg472Leu) c.1370G>T (p.Arg457Leu) c.1277G>T (p.Arg426Leu) | |
9 | g.36222980C= | CA1846333823 | CLTA,GNE | c.1523G= (p.Arg508=) c.1253G= (p.Arg418=) c.1430G= (p.Arg477=) c.1411+393G= (n.1411+393G=) c.485+18801C= (n.485+18801C=) c.1100G= (p.Arg367=) c.1415G= (p.Arg472=) c.1370G= (p.Arg457=) c.1277G= (p.Arg426=) | |
9 | g.36222980C>G | CA373426920 | CLTA,GNE | c.1523G>C (p.Arg508Pro) c.1253G>C (p.Arg418Pro) c.1430G>C (p.Arg477Pro) c.1411+393G>C (n.1411+393G>C) c.485+18801C>G (n.485+18801C>G) c.1100G>C (p.Arg367Pro) c.1415G>C (p.Arg472Pro) c.1370G>C (p.Arg457Pro) c.1277G>C (p.Arg426Pro) | gnomAD v4 |
9 | g.36222980C>T | CA5056481 | CLTA,GNE | c.1523G>A (p.Arg508His) c.1253G>A (p.Arg418His) c.1430G>A (p.Arg477His) c.1411+393G>A (n.1411+393G>A) c.485+18801C>T (n.485+18801C>T) c.1100G>A (p.Arg367His) c.1415G>A (p.Arg472His) c.1370G>A (p.Arg457His) c.1277G>A (p.Arg426His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36222981G>A | CA5056482 | CLTA,GNE | c.1522C>T (p.Arg508Cys) c.1252C>T (p.Arg418Cys) c.1429C>T (p.Arg477Cys) c.1411+392C>T (n.1411+392C>T) c.485+18802G>A (n.485+18802G>A) c.1099C>T (p.Arg367Cys) c.1414C>T (p.Arg472Cys) c.1369C>T (p.Arg457Cys) c.1276C>T (p.Arg426Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
9 | g.36222981G>C | CA373426924 | CLTA,GNE | c.1522C>G (p.Arg508Gly) c.1252C>G (p.Arg418Gly) c.1429C>G (p.Arg477Gly) c.1411+392C>G (n.1411+392C>G) c.485+18802G>C (n.485+18802G>C) c.1099C>G (p.Arg367Gly) c.1414C>G (p.Arg472Gly) c.1369C>G (p.Arg457Gly) c.1276C>G (p.Arg426Gly) | |
9 | g.36222981G= | CA1846333829 | CLTA,GNE | c.1522C= (p.Arg508=) c.1252C= (p.Arg418=) c.1429C= (p.Arg477=) c.1411+392C= (n.1411+392C=) c.485+18802G= (n.485+18802G=) c.1099C= (p.Arg367=) c.1414C= (p.Arg472=) c.1369C= (p.Arg457=) c.1276C= (p.Arg426=) | |
9 | g.36222981G>T | CA373426925 | CLTA,GNE | c.1522C>A (p.Arg508Ser) c.1252C>A (p.Arg418Ser) c.1429C>A (p.Arg477Ser) c.1411+392C>A (n.1411+392C>A) c.485+18802G>T (n.485+18802G>T) c.1099C>A (p.Arg367Ser) c.1414C>A (p.Arg472Ser) c.1369C>A (p.Arg457Ser) c.1276C>A (p.Arg426Ser) | |
9 | g.36222982G>A | CA464495286 | CLTA,GNE | c.1521C>T (p.Gly507=) c.1251C>T (p.Gly417=) c.1428C>T (p.Gly476=) c.1411+391C>T (n.1411+391C>T) c.485+18803G>A (n.485+18803G>A) c.1098C>T (p.Gly366=) c.1413C>T (p.Gly471=) c.1368C>T (p.Gly456=) c.1275C>T (p.Gly425=) | |
9 | g.36222982G>C | CA464495287 | CLTA,GNE | c.1521C>G (p.Gly507=) c.1251C>G (p.Gly417=) c.1428C>G (p.Gly476=) c.1411+391C>G (n.1411+391C>G) c.485+18803G>C (n.485+18803G>C) c.1098C>G (p.Gly366=) c.1413C>G (p.Gly471=) c.1368C>G (p.Gly456=) c.1275C>G (p.Gly425=) | |
9 | g.36222982G>T | CA464495288 | CLTA,GNE | c.1521C>A (p.Gly507=) c.1251C>A (p.Gly417=) c.1428C>A (p.Gly476=) c.1411+391C>A (n.1411+391C>A) c.485+18803G>T (n.485+18803G>T) c.1098C>A (p.Gly366=) c.1413C>A (p.Gly471=) c.1368C>A (p.Gly456=) c.1275C>A (p.Gly425=) | |
9 | g.36222983C>A | CA373426927 | CLTA,GNE | c.1520G>T (p.Gly507Val) c.1250G>T (p.Gly417Val) c.1427G>T (p.Gly476Val) c.1411+390G>T (n.1411+390G>T) c.485+18804C>A (n.485+18804C>A) c.1097G>T (p.Gly366Val) c.1412G>T (p.Gly471Val) c.1367G>T (p.Gly456Val) c.1274G>T (p.Gly425Val) | ClinVar dbSNP |
9 | g.36222983C= | CA1846333838 | CLTA,GNE | c.1520G= (p.Gly507=) c.1250G= (p.Gly417=) c.1427G= (p.Gly476=) c.1411+390G= (n.1411+390G=) c.485+18804C= (n.485+18804C=) c.1097G= (p.Gly366=) c.1412G= (p.Gly471=) c.1367G= (p.Gly456=) c.1274G= (p.Gly425=) | |
9 | g.36222983C>G | CA373426931 | CLTA,GNE | c.1520G>C (p.Gly507Ala) c.1250G>C (p.Gly417Ala) c.1427G>C (p.Gly476Ala) c.1411+390G>C (n.1411+390G>C) c.485+18804C>G (n.485+18804C>G) c.1097G>C (p.Gly366Ala) c.1412G>C (p.Gly471Ala) c.1367G>C (p.Gly456Ala) c.1274G>C (p.Gly425Ala) | |
9 | g.36222983C>T | CA373426929 | CLTA,GNE | c.1520G>A (p.Gly507Asp) c.1250G>A (p.Gly417Asp) c.1427G>A (p.Gly476Asp) c.1411+390G>A (n.1411+390G>A) c.485+18804C>T (n.485+18804C>T) c.1097G>A (p.Gly366Asp) c.1412G>A (p.Gly471Asp) c.1367G>A (p.Gly456Asp) c.1274G>A (p.Gly425Asp) | |
9 | g.36222984C>A | CA373426934 | CLTA,GNE | c.1519G>T (p.Gly507Cys) c.1249G>T (p.Gly417Cys) c.1426G>T (p.Gly476Cys) c.1411+389G>T (n.1411+389G>T) c.485+18805C>A (n.485+18805C>A) c.1096G>T (p.Gly366Cys) c.1411G>T (p.Gly471Cys) c.1366G>T (p.Gly456Cys) c.1273G>T (p.Gly425Cys) | |
9 | g.36222984C>G | CA373426936 | CLTA,GNE | c.1519G>C (p.Gly507Arg) c.1249G>C (p.Gly417Arg) c.1426G>C (p.Gly476Arg) c.1411+389G>C (n.1411+389G>C) c.485+18805C>G (n.485+18805C>G) c.1096G>C (p.Gly366Arg) c.1411G>C (p.Gly471Arg) c.1366G>C (p.Gly456Arg) c.1273G>C (p.Gly425Arg) | |
9 | g.36222984C>T | CA373426938 | CLTA,GNE | c.1519G>A (p.Gly507Ser) c.1249G>A (p.Gly417Ser) c.1426G>A (p.Gly476Ser) c.1411+389G>A (n.1411+389G>A) c.485+18805C>T (n.485+18805C>T) c.1096G>A (p.Gly366Ser) c.1411G>A (p.Gly471Ser) c.1366G>A (p.Gly456Ser) c.1273G>A (p.Gly425Ser) | ClinVar dbSNP |
9 | g.36222985A= | CA1846333841 | CLTA,GNE | c.1518T= (p.Gly506=) c.1248T= (p.Gly416=) c.1425T= (p.Gly475=) c.1411+388T= (n.1411+388T=) c.485+18806A= (n.485+18806A=) c.1095T= (p.Gly365=) c.1410T= (p.Gly470=) c.1365T= (p.Gly455=) c.1272T= (p.Gly424=) | |
9 | g.36222985A>C | CA464495289 | CLTA,GNE | c.1518T>G (p.Gly506=) c.1248T>G (p.Gly416=) c.1425T>G (p.Gly475=) c.1411+388T>G (n.1411+388T>G) c.485+18806A>C (n.485+18806A>C) c.1095T>G (p.Gly365=) c.1410T>G (p.Gly470=) c.1365T>G (p.Gly455=) c.1272T>G (p.Gly424=) | |
9 | g.36222985A>G | CA464495290 | CLTA,GNE | c.1518T>C (p.Gly506=) c.1248T>C (p.Gly416=) c.1425T>C (p.Gly475=) c.1411+388T>C (n.1411+388T>C) c.485+18806A>G (n.485+18806A>G) c.1095T>C (p.Gly365=) c.1410T>C (p.Gly470=) c.1365T>C (p.Gly455=) c.1272T>C (p.Gly424=) | dbSNP gnomAD v4 |
9 | g.36222985A>T | CA464495291 | CLTA,GNE | c.1518T>A (p.Gly506=) c.1248T>A (p.Gly416=) c.1425T>A (p.Gly475=) c.1411+388T>A (n.1411+388T>A) c.485+18806A>T (n.485+18806A>T) c.1095T>A (p.Gly365=) c.1410T>A (p.Gly470=) c.1365T>A (p.Gly455=) c.1272T>A (p.Gly424=) | |
9 | g.36222986C>A | CA373426940 | CLTA,GNE | c.1517G>T (p.Gly506Val) c.1247G>T (p.Gly416Val) c.1424G>T (p.Gly475Val) c.1411+387G>T (n.1411+387G>T) c.485+18807C>A (n.485+18807C>A) c.1094G>T (p.Gly365Val) c.1409G>T (p.Gly470Val) c.1364G>T (p.Gly455Val) c.1271G>T (p.Gly424Val) | |
9 | g.36222986C>G | CA373426943 | CLTA,GNE | c.1517G>C (p.Gly506Ala) c.1247G>C (p.Gly416Ala) c.1424G>C (p.Gly475Ala) c.1411+387G>C (n.1411+387G>C) c.485+18807C>G (n.485+18807C>G) c.1094G>C (p.Gly365Ala) c.1409G>C (p.Gly470Ala) c.1364G>C (p.Gly455Ala) c.1271G>C (p.Gly424Ala) | |
9 | g.36222986C>T | CA373426946 | CLTA,GNE | c.1517G>A (p.Gly506Asp) c.1247G>A (p.Gly416Asp) c.1424G>A (p.Gly475Asp) c.1411+387G>A (n.1411+387G>A) c.485+18807C>T (n.485+18807C>T) c.1094G>A (p.Gly365Asp) c.1409G>A (p.Gly470Asp) c.1364G>A (p.Gly455Asp) c.1271G>A (p.Gly424Asp) | |
9 | g.36222986_36222987delinsAA | CA1139532203 | CLTA,GNE | c.1516_1517delinsTT (p.Gly506Phe) c.1246_1247delinsTT (p.Gly416Phe) c.1423_1424delinsTT (p.Gly475Phe) c.1411+386_1411+387delinsTT (n.1411+386_1411+387delinsTT) c.485+18807_485+18808delinsAA (n.485+18807_485+18808delinsAA) c.1093_1094delinsTT (p.Gly365Phe) c.1408_1409delinsTT (p.Gly470Phe) c.1363_1364delinsTT (p.Gly455Phe) c.1270_1271delinsTT (p.Gly424Phe) | |
9 | g.36222987C>A | CA373426948 | CLTA,GNE | c.1516G>T (p.Gly506Cys) c.1246G>T (p.Gly416Cys) c.1423G>T (p.Gly475Cys) c.1411+386G>T (n.1411+386G>T) c.485+18808C>A (n.485+18808C>A) c.1093G>T (p.Gly365Cys) c.1408G>T (p.Gly470Cys) c.1363G>T (p.Gly455Cys) c.1270G>T (p.Gly424Cys) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.36222987C= | CA1846333844 | CLTA,GNE | c.1516G= (p.Gly506=) c.1246G= (p.Gly416=) c.1423G= (p.Gly475=) c.1411+386G= (n.1411+386G=) c.485+18808C= (n.485+18808C=) c.1093G= (p.Gly365=) c.1408G= (p.Gly470=) c.1363G= (p.Gly455=) c.1270G= (p.Gly424=) | |
9 | g.36222987C>G | CA373426951 | CLTA,GNE | c.1516G>C (p.Gly506Arg) c.1246G>C (p.Gly416Arg) c.1423G>C (p.Gly475Arg) c.1411+386G>C (n.1411+386G>C) c.485+18808C>G (n.485+18808C>G) c.1093G>C (p.Gly365Arg) c.1408G>C (p.Gly470Arg) c.1363G>C (p.Gly455Arg) c.1270G>C (p.Gly424Arg) | |
9 | g.36222987C>T | CA373426952 | CLTA,GNE | c.1516G>A (p.Gly506Ser) c.1246G>A (p.Gly416Ser) c.1423G>A (p.Gly475Ser) c.1411+386G>A (n.1411+386G>A) c.485+18808C>T (n.485+18808C>T) c.1093G>A (p.Gly365Ser) c.1408G>A (p.Gly470Ser) c.1363G>A (p.Gly455Ser) c.1270G>A (p.Gly424Ser) | |
9 | g.36222988T>A | CA464495292 | CLTA,GNE | c.1515A>T (p.Thr505=) c.1245A>T (p.Thr415=) c.1422A>T (p.Thr474=) c.1411+385A>T (n.1411+385A>T) c.485+18809T>A (n.485+18809T>A) c.1092A>T (p.Thr364=) c.1407A>T (p.Thr469=) c.1362A>T (p.Thr454=) c.1269A>T (p.Thr423=) | gnomAD v4 |
9 | g.36222988T>C | CA464495293 | CLTA,GNE | c.1515A>G (p.Thr505=) c.1245A>G (p.Thr415=) c.1422A>G (p.Thr474=) c.1411+385A>G (n.1411+385A>G) c.485+18809T>C (n.485+18809T>C) c.1092A>G (p.Thr364=) c.1407A>G (p.Thr469=) c.1362A>G (p.Thr454=) c.1269A>G (p.Thr423=) | gnomAD v4 |
9 | g.36222988T>G | CA464495294 | CLTA,GNE | c.1515A>C (p.Thr505=) c.1245A>C (p.Thr415=) c.1422A>C (p.Thr474=) c.1411+385A>C (n.1411+385A>C) c.485+18809T>G (n.485+18809T>G) c.1092A>C (p.Thr364=) c.1407A>C (p.Thr469=) c.1362A>C (p.Thr454=) c.1269A>C (p.Thr423=) | |
9 | g.36222989G>A | CA373426954 | CLTA,GNE | c.1514C>T (p.Thr505Ile) c.1244C>T (p.Thr415Ile) c.1421C>T (p.Thr474Ile) c.1411+384C>T (n.1411+384C>T) c.485+18810G>A (n.485+18810G>A) c.1091C>T (p.Thr364Ile) c.1406C>T (p.Thr469Ile) c.1361C>T (p.Thr454Ile) c.1268C>T (p.Thr423Ile) | |
9 | g.36222989G>C | CA373426955 | CLTA,GNE | c.1514C>G (p.Thr505Arg) c.1244C>G (p.Thr415Arg) c.1421C>G (p.Thr474Arg) c.1411+384C>G (n.1411+384C>G) c.485+18810G>C (n.485+18810G>C) c.1091C>G (p.Thr364Arg) c.1406C>G (p.Thr469Arg) c.1361C>G (p.Thr454Arg) c.1268C>G (p.Thr423Arg) | |
9 | g.36222989G>T | CA373426957 | CLTA,GNE | c.1514C>A (p.Thr505Lys) c.1244C>A (p.Thr415Lys) c.1421C>A (p.Thr474Lys) c.1411+384C>A (n.1411+384C>A) c.485+18810G>T (n.485+18810G>T) c.1091C>A (p.Thr364Lys) c.1406C>A (p.Thr469Lys) c.1361C>A (p.Thr454Lys) c.1268C>A (p.Thr423Lys) | |
9 | g.36222990T>A | CA373426960 | CLTA,GNE | c.1513A>T (p.Thr505Ser) c.1243A>T (p.Thr415Ser) c.1420A>T (p.Thr474Ser) c.1411+383A>T (n.1411+383A>T) c.485+18811T>A (n.485+18811T>A) c.1090A>T (p.Thr364Ser) c.1405A>T (p.Thr469Ser) c.1360A>T (p.Thr454Ser) c.1267A>T (p.Thr423Ser) | |
9 | g.36222990T>C | CA373426964 | CLTA,GNE | c.1513A>G (p.Thr505Ala) c.1243A>G (p.Thr415Ala) c.1420A>G (p.Thr474Ala) c.1411+383A>G (n.1411+383A>G) c.485+18811T>C (n.485+18811T>C) c.1090A>G (p.Thr364Ala) c.1405A>G (p.Thr469Ala) c.1360A>G (p.Thr454Ala) c.1267A>G (p.Thr423Ala) | |
9 | g.36222990T>G | CA373426963 | CLTA,GNE | c.1513A>C (p.Thr505Pro) c.1243A>C (p.Thr415Pro) c.1420A>C (p.Thr474Pro) c.1411+383A>C (n.1411+383A>C) c.485+18811T>G (n.485+18811T>G) c.1090A>C (p.Thr364Pro) c.1405A>C (p.Thr469Pro) c.1360A>C (p.Thr454Pro) c.1267A>C (p.Thr423Pro) | |
9 | g.36222991G>A | CA464495295 | CLTA,GNE | c.1512C>T (p.Ser504=) c.1242C>T (p.Ser414=) c.1419C>T (p.Ser473=) c.1411+382C>T (n.1411+382C>T) c.485+18812G>A (n.485+18812G>A) c.1089C>T (p.Ser363=) c.1404C>T (p.Ser468=) c.1359C>T (p.Ser453=) c.1266C>T (p.Ser422=) | |
9 | g.36222991G>C | CA464495296 | CLTA,GNE | c.1512C>G (p.Ser504=) c.1242C>G (p.Ser414=) c.1419C>G (p.Ser473=) c.1411+382C>G (n.1411+382C>G) c.485+18812G>C (n.485+18812G>C) c.1089C>G (p.Ser363=) c.1404C>G (p.Ser468=) c.1359C>G (p.Ser453=) c.1266C>G (p.Ser422=) | ClinVar dbSNP |
9 | g.36222991G>T | CA464495298 | CLTA,GNE | c.1512C>A (p.Ser504=) c.1242C>A (p.Ser414=) c.1419C>A (p.Ser473=) c.1411+382C>A (n.1411+382C>A) c.485+18812G>T (n.485+18812G>T) c.1089C>A (p.Ser363=) c.1404C>A (p.Ser468=) c.1359C>A (p.Ser453=) c.1266C>A (p.Ser422=) | |
9 | g.36222992G>A | CA373426968 | CLTA,GNE | c.1511C>T (p.Ser504Phe) c.1241C>T (p.Ser414Phe) c.1418C>T (p.Ser473Phe) c.1411+381C>T (n.1411+381C>T) c.485+18813G>A (n.485+18813G>A) c.1088C>T (p.Ser363Phe) c.1403C>T (p.Ser468Phe) c.1358C>T (p.Ser453Phe) c.1265C>T (p.Ser422Phe) | |
9 | g.36222992G>C | CA373426972 | CLTA,GNE | c.1511C>G (p.Ser504Cys) c.1241C>G (p.Ser414Cys) c.1418C>G (p.Ser473Cys) c.1411+381C>G (n.1411+381C>G) c.485+18813G>C (n.485+18813G>C) c.1088C>G (p.Ser363Cys) c.1403C>G (p.Ser468Cys) c.1358C>G (p.Ser453Cys) c.1265C>G (p.Ser422Cys) | |
9 | g.36222992G>T | CA373426974 | CLTA,GNE | c.1511C>A (p.Ser504Tyr) c.1241C>A (p.Ser414Tyr) c.1418C>A (p.Ser473Tyr) c.1411+381C>A (n.1411+381C>A) c.485+18813G>T (n.485+18813G>T) c.1088C>A (p.Ser363Tyr) c.1403C>A (p.Ser468Tyr) c.1358C>A (p.Ser453Tyr) c.1265C>A (p.Ser422Tyr) | |
9 | g.36222992_36222993delinsGA | CA1846333850 | CLTA,GNE | c.1510_1511delinsTC (p.Ser504=) c.1240_1241delinsTC (p.Ser414=) c.1417_1418delinsTC (p.Ser473=) c.1411+380_1411+381delinsTC (n.1411+380_1411+381delinsTC) c.485+18813_485+18814delinsGA (n.485+18813_485+18814delinsGA) c.1087_1088delinsTC (p.Ser363=) c.1402_1403delinsTC (p.Ser468=) c.1357_1358delinsTC (p.Ser453=) c.1264_1265delinsTC (p.Ser422=) | |
9 | g.36222993A>C | CA373426977 | CLTA,GNE | c.1510T>G (p.Ser504Ala) c.1240T>G (p.Ser414Ala) c.1417T>G (p.Ser473Ala) c.1411+380T>G (n.1411+380T>G) c.485+18814A>C (n.485+18814A>C) c.1087T>G (p.Ser363Ala) c.1402T>G (p.Ser468Ala) c.1357T>G (p.Ser453Ala) c.1264T>G (p.Ser422Ala) | |
9 | g.36222993A>G | CA373426980 | CLTA,GNE | c.1510T>C (p.Ser504Pro) c.1240T>C (p.Ser414Pro) c.1417T>C (p.Ser473Pro) c.1411+380T>C (n.1411+380T>C) c.485+18814A>G (n.485+18814A>G) c.1087T>C (p.Ser363Pro) c.1402T>C (p.Ser468Pro) c.1357T>C (p.Ser453Pro) c.1264T>C (p.Ser422Pro) | |
9 | g.36222993A>T | CA373426982 | CLTA,GNE | c.1510T>A (p.Ser504Thr) c.1240T>A (p.Ser414Thr) c.1417T>A (p.Ser473Thr) c.1411+380T>A (n.1411+380T>A) c.485+18814A>T (n.485+18814A>T) c.1087T>A (p.Ser363Thr) c.1402T>A (p.Ser468Thr) c.1357T>A (p.Ser453Thr) c.1264T>A (p.Ser422Thr) | |
9 | g.36222995del | CA16041313 | CLTA,GNE | c.1510del (p.Ser504ProfsTer6) c.1240del (p.Ser414ProfsTer6) c.1417del (p.Ser473ProfsTer6) c.1411+380del (n.1411+380del) c.485+18816del (n.485+18816del) c.1087del (p.Ser363ProfsTer6) c.1402del (p.Ser468ProfsTer6) c.1357del (p.Ser453ProfsTer6) c.1264del (p.Ser422ProfsTer6) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.36222994A>C | CA373426986 | CLTA,GNE | c.1509T>G (p.Ile503Met) c.1239T>G (p.Ile413Met) c.1416T>G (p.Ile472Met) c.1411+379T>G (n.1411+379T>G) c.485+18815A>C (n.485+18815A>C) c.1086T>G (p.Ile362Met) c.1401T>G (p.Ile467Met) c.1356T>G (p.Ile452Met) c.1263T>G (p.Ile421Met) | |
9 | g.36222994A>G | CA464495299 | CLTA,GNE | c.1509T>C (p.Ile503=) c.1239T>C (p.Ile413=) c.1416T>C (p.Ile472=) c.1411+379T>C (n.1411+379T>C) c.485+18815A>G (n.485+18815A>G) c.1086T>C (p.Ile362=) c.1401T>C (p.Ile467=) c.1356T>C (p.Ile452=) c.1263T>C (p.Ile421=) | |
9 | g.36222994A>T | CA464495301 | CLTA,GNE | c.1509T>A (p.Ile503=) c.1239T>A (p.Ile413=) c.1416T>A (p.Ile472=) c.1411+379T>A (n.1411+379T>A) c.485+18815A>T (n.485+18815A>T) c.1086T>A (p.Ile362=) c.1401T>A (p.Ile467=) c.1356T>A (p.Ile452=) c.1263T>A (p.Ile421=) | |
9 | g.36222995A>C | CA373426989 | CLTA,GNE | c.1508T>G (p.Ile503Ser) c.1238T>G (p.Ile413Ser) c.1415T>G (p.Ile472Ser) c.1411+378T>G (n.1411+378T>G) c.485+18816A>C (n.485+18816A>C) c.1085T>G (p.Ile362Ser) c.1400T>G (p.Ile467Ser) c.1355T>G (p.Ile452Ser) c.1262T>G (p.Ile421Ser) | |
9 | g.36222995A>G | CA373426991 | CLTA,GNE | c.1508T>C (p.Ile503Thr) c.1238T>C (p.Ile413Thr) c.1415T>C (p.Ile472Thr) c.1411+378T>C (n.1411+378T>C) c.485+18816A>G (n.485+18816A>G) c.1085T>C (p.Ile362Thr) c.1400T>C (p.Ile467Thr) c.1355T>C (p.Ile452Thr) c.1262T>C (p.Ile421Thr) | |
9 | g.36222995A>T | CA373426992 | CLTA,GNE | c.1508T>A (p.Ile503Asn) c.1238T>A (p.Ile413Asn) c.1415T>A (p.Ile472Asn) c.1411+378T>A (n.1411+378T>A) c.485+18816A>T (n.485+18816A>T) c.1085T>A (p.Ile362Asn) c.1400T>A (p.Ile467Asn) c.1355T>A (p.Ile452Asn) c.1262T>A (p.Ile421Asn) | |
9 | g.36222996del | CA2579338419 | CLTA,GNE | c.1507del (p.Ile503PhefsTer7) c.1237del (p.Ile413PhefsTer7) c.1414del (p.Ile472PhefsTer7) c.1411+377del (n.1411+377del) c.485+18817del (n.485+18817del) c.1084del (p.Ile362PhefsTer7) c.1399del (p.Ile467PhefsTer7) c.1354del (p.Ile452PhefsTer7) c.1261del (p.Ile421PhefsTer7) | |
9 | g.36222996T>A | CA373427000 | CLTA,GNE | c.1507A>T (p.Ile503Phe) c.1237A>T (p.Ile413Phe) c.1414A>T (p.Ile472Phe) c.1411+377A>T (n.1411+377A>T) c.485+18817T>A (n.485+18817T>A) c.1084A>T (p.Ile362Phe) c.1399A>T (p.Ile467Phe) c.1354A>T (p.Ile452Phe) c.1261A>T (p.Ile421Phe) | |
9 | g.36222996T>C | CA373426998 | CLTA,GNE | c.1507A>G (p.Ile503Val) c.1237A>G (p.Ile413Val) c.1414A>G (p.Ile472Val) c.1411+377A>G (n.1411+377A>G) c.485+18817T>C (n.485+18817T>C) c.1084A>G (p.Ile362Val) c.1399A>G (p.Ile467Val) c.1354A>G (p.Ile452Val) c.1261A>G (p.Ile421Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.36222996T>G | CA373426996 | CLTA,GNE | c.1507A>C (p.Ile503Leu) c.1237A>C (p.Ile413Leu) c.1414A>C (p.Ile472Leu) c.1411+377A>C (n.1411+377A>C) c.485+18817T>G (n.485+18817T>G) c.1084A>C (p.Ile362Leu) c.1399A>C (p.Ile467Leu) c.1354A>C (p.Ile452Leu) c.1261A>C (p.Ile421Leu) | |
9 | g.36222996T= | CA1846333860 | CLTA,GNE | c.1507A= (p.Ile503=) c.1237A= (p.Ile413=) c.1414A= (p.Ile472=) c.1411+377A= (n.1411+377A=) c.485+18817T= (n.485+18817T=) c.1084A= (p.Ile362=) c.1399A= (p.Ile467=) c.1354A= (p.Ile452=) c.1261A= (p.Ile421=) | |
9 | g.36222997G>A | CA5056483 | CLTA,GNE | c.1506C>T (p.Gly502=) c.1236C>T (p.Gly412=) c.1413C>T (p.Gly471=) c.1411+376C>T (n.1411+376C>T) c.485+18818G>A (n.485+18818G>A) c.1083C>T (p.Gly361=) c.1398C>T (p.Gly466=) c.1353C>T (p.Gly451=) c.1260C>T (p.Gly420=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36222997G>C | CA464495305 | CLTA,GNE | c.1506C>G (p.Gly502=) c.1236C>G (p.Gly412=) c.1413C>G (p.Gly471=) c.1411+376C>G (n.1411+376C>G) c.485+18818G>C (n.485+18818G>C) c.1083C>G (p.Gly361=) c.1398C>G (p.Gly466=) c.1353C>G (p.Gly451=) c.1260C>G (p.Gly420=) | |
9 | g.36222997G= | CA1846333863 | CLTA,GNE | c.1506C= (p.Gly502=) c.1236C= (p.Gly412=) c.1413C= (p.Gly471=) c.1411+376C= (n.1411+376C=) c.485+18818G= (n.485+18818G=) c.1083C= (p.Gly361=) c.1398C= (p.Gly466=) c.1353C= (p.Gly451=) c.1260C= (p.Gly420=) | |
9 | g.36222997G>T | CA464495304 | CLTA,GNE | c.1506C>A (p.Gly502=) c.1236C>A (p.Gly412=) c.1413C>A (p.Gly471=) c.1411+376C>A (n.1411+376C>A) c.485+18818G>T (n.485+18818G>T) c.1083C>A (p.Gly361=) c.1398C>A (p.Gly466=) c.1353C>A (p.Gly451=) c.1260C>A (p.Gly420=) | |
9 | g.36222998C>A | CA373427003 | CLTA,GNE | c.1505G>T (p.Gly502Val) c.1235G>T (p.Gly412Val) c.1412G>T (p.Gly471Val) c.1411+375G>T (n.1411+375G>T) c.485+18819C>A (n.485+18819C>A) c.1082G>T (p.Gly361Val) c.1397G>T (p.Gly466Val) c.1352G>T (p.Gly451Val) c.1259G>T (p.Gly420Val) | |
9 | g.36222998C= | CA1846333867 | CLTA,GNE | c.1505G= (p.Gly502=) c.1235G= (p.Gly412=) c.1412G= (p.Gly471=) c.1411+375G= (n.1411+375G=) c.485+18819C= (n.485+18819C=) c.1082G= (p.Gly361=) c.1397G= (p.Gly466=) c.1352G= (p.Gly451=) c.1259G= (p.Gly420=) | |
9 | g.36222998C>G | CA373427004 | CLTA,GNE | c.1505G>C (p.Gly502Ala) c.1235G>C (p.Gly412Ala) c.1412G>C (p.Gly471Ala) c.1411+375G>C (n.1411+375G>C) c.485+18819C>G (n.485+18819C>G) c.1082G>C (p.Gly361Ala) c.1397G>C (p.Gly466Ala) c.1352G>C (p.Gly451Ala) c.1259G>C (p.Gly420Ala) | |
9 | g.36222998C>T | CA373427005 | CLTA,GNE | c.1505G>A (p.Gly502Asp) c.1235G>A (p.Gly412Asp) c.1412G>A (p.Gly471Asp) c.1411+375G>A (n.1411+375G>A) c.485+18819C>T (n.485+18819C>T) c.1082G>A (p.Gly361Asp) c.1397G>A (p.Gly466Asp) c.1352G>A (p.Gly451Asp) c.1259G>A (p.Gly420Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |