Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.18785984G>A | CA506117328 | COMP | c.1470C>T (p.Pro490=) c.1311C>T (p.Pro437=) c.1371C>T (p.Pro457=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18785984G>C | CA9316415 | COMP | c.1470C>G (p.Pro490=) c.1311C>G (p.Pro437=) c.1371C>G (p.Pro457=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18785984G= | CA2326525509 | COMP | c.1470C= (p.Pro490=) c.1311C= (p.Pro437=) c.1371C= (p.Pro457=) | |
19 | g.18785984G>T | CA9316414 | COMP | c.1470C>A (p.Pro490=) c.1311C>A (p.Pro437=) c.1371C>A (p.Pro457=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18785987del | CA2576725779 | COMP | c.1470del (p.Gly491AlafsTer24) c.1311del (p.Gly438AlafsTer24) c.1371del (p.Gly458AlafsTer24) | gnomAD v4 |
19 | g.18785985G>A | CA9316416 | COMP | c.1469C>T (p.Pro490Leu) c.1310C>T (p.Pro437Leu) c.1370C>T (p.Pro457Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18785985G>C | CA306255118 | COMP | c.1469C>G (p.Pro490Arg) c.1310C>G (p.Pro437Arg) c.1370C>G (p.Pro457Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18785985G= | CA2326525510 | COMP | c.1469C= (p.Pro490=) c.1310C= (p.Pro437=) c.1370C= (p.Pro457=) | |
19 | g.18785985G>T | CA404884202 | COMP | c.1469C>A (p.Pro490His) c.1310C>A (p.Pro437His) c.1370C>A (p.Pro457His) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18785986G>A | CA404884211 | COMP | c.1468C>T (p.Pro490Ser) c.1309C>T (p.Pro437Ser) c.1369C>T (p.Pro457Ser) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18785986G>C | CA404884214 | COMP | c.1468C>G (p.Pro490Ala) c.1309C>G (p.Pro437Ala) c.1369C>G (p.Pro457Ala) | gnomAD v4 |
19 | g.18785986G= | CA2326525511 | COMP | c.1468C= (p.Pro490=) c.1309C= (p.Pro437=) c.1369C= (p.Pro457=) | |
19 | g.18785986G>T | CA306255123 | COMP | c.1468C>A (p.Pro490Thr) c.1309C>A (p.Pro437Thr) c.1369C>A (p.Pro457Thr) | ClinVar dbSNP gnomAD v4 |
19 | g.18785987G>A | CA9316417 | COMP | c.1467C>T (p.Asn489=) c.1308C>T (p.Asn436=) c.1368C>T (p.Asn456=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18785987G>C | CA404884222 | COMP | c.1467C>G (p.Asn489Lys) c.1308C>G (p.Asn436Lys) c.1368C>G (p.Asn456Lys) | |
19 | g.18785987G= | CA2326525512 | COMP | c.1467C= (p.Asn489=) c.1308C= (p.Asn436=) c.1368C= (p.Asn456=) | |
19 | g.18785987G>T | CA404884223 | COMP | c.1467C>A (p.Asn489Lys) c.1308C>A (p.Asn436Lys) c.1368C>A (p.Asn456Lys) | ClinVar dbSNP |
19 | g.18785988T>A | CA404884228 | COMP | c.1466A>T (p.Asn489Ile) c.1307A>T (p.Asn436Ile) c.1367A>T (p.Asn456Ile) | |
19 | g.18785988T>C | CA404884233 | COMP | c.1466A>G (p.Asn489Ser) c.1307A>G (p.Asn436Ser) c.1367A>G (p.Asn456Ser) | |
19 | g.18785988T>G | CA404884230 | COMP | c.1466A>C (p.Asn489Thr) c.1307A>C (p.Asn436Thr) c.1367A>C (p.Asn456Thr) | dbSNP |
19 | g.18785988T= | CA2326525513 | COMP | c.1466A= (p.Asn489=) c.1307A= (p.Asn436=) c.1367A= (p.Asn456=) | |
19 | g.18785989T>A | CA404884236 | COMP | c.1465A>T (p.Asn489Tyr) c.1306A>T (p.Asn436Tyr) c.1366A>T (p.Asn456Tyr) | |
19 | g.18785989T>C | CA404884238 | COMP | c.1465A>G (p.Asn489Asp) c.1306A>G (p.Asn436Asp) c.1366A>G (p.Asn456Asp) | |
19 | g.18785989T>G | CA404884241 | COMP | c.1465A>C (p.Asn489His) c.1306A>C (p.Asn436His) c.1366A>C (p.Asn456His) | |
19 | g.18785990A= | CA2326525514 | COMP | c.1464T= (p.Pro488=) c.1305T= (p.Pro435=) c.1365T= (p.Pro455=) | |
19 | g.18785990A>C | CA506117342 | COMP | c.1464T>G (p.Pro488=) c.1305T>G (p.Pro435=) c.1365T>G (p.Pro455=) | |
19 | g.18785990A>G | CA506117344 | COMP | c.1464T>C (p.Pro488=) c.1305T>C (p.Pro435=) c.1365T>C (p.Pro455=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.18785990A>T | CA506117345 | COMP | c.1464T>A (p.Pro488=) c.1305T>A (p.Pro435=) c.1365T>A (p.Pro455=) | gnomAD v4 |
19 | g.18785991G>A | CA404884247 | COMP | c.1463C>T (p.Pro488Leu) c.1304C>T (p.Pro435Leu) c.1364C>T (p.Pro455Leu) | |
19 | g.18785991G>C | CA404884249 | COMP | c.1463C>G (p.Pro488Arg) c.1304C>G (p.Pro435Arg) c.1364C>G (p.Pro455Arg) | |
19 | g.18785991G= | CA2326525515 | COMP | c.1463C= (p.Pro488=) c.1304C= (p.Pro435=) c.1364C= (p.Pro455=) | |
19 | g.18785991G>T | CA9316418 | COMP | c.1463C>A (p.Pro488His) c.1304C>A (p.Pro435His) c.1364C>A (p.Pro455His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18785992G>A | CA404884252 | COMP | c.1462C>T (p.Pro488Ser) c.1303C>T (p.Pro435Ser) c.1363C>T (p.Pro455Ser) | COSMIC |
19 | g.18785992G>C | CA404884253 | COMP | c.1462C>G (p.Pro488Ala) c.1303C>G (p.Pro435Ala) c.1363C>G (p.Pro455Ala) | |
19 | g.18785992G= | CA2326525516 | COMP | c.1462C= (p.Pro488=) c.1303C= (p.Pro435=) c.1363C= (p.Pro455=) | |
19 | g.18785992G>T | CA404884254 | COMP | c.1462C>A (p.Pro488Thr) c.1303C>A (p.Pro435Thr) c.1363C>A (p.Pro455Thr) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18785993C>A | CA506117348 | COMP | c.1461G>T (p.Val487=) c.1302G>T (p.Val434=) c.1362G>T (p.Val454=) | |
19 | g.18785993C>G | CA506117349 | COMP | c.1461G>C (p.Val487=) c.1302G>C (p.Val434=) c.1362G>C (p.Val454=) | |
19 | g.18785993C>T | CA506117350 | COMP | c.1461G>A (p.Val487=) c.1302G>A (p.Val434=) c.1362G>A (p.Val454=) | |
19 | g.18785994A>C | CA404884256 | COMP | c.1460T>G (p.Val487Gly) c.1301T>G (p.Val434Gly) c.1361T>G (p.Val454Gly) | |
19 | g.18785994A>G | CA404884259 | COMP | c.1460T>C (p.Val487Ala) c.1301T>C (p.Val434Ala) c.1361T>C (p.Val454Ala) | |
19 | g.18785994A>T | CA404884263 | COMP | c.1460T>A (p.Val487Glu) c.1301T>A (p.Val434Glu) c.1361T>A (p.Val454Glu) | |
19 | g.18785995C>A | CA404884265 | COMP | c.1459G>T (p.Val487Leu) c.1300G>T (p.Val434Leu) c.1360G>T (p.Val454Leu) | COSMIC |
19 | g.18785995C>G | CA404884266 | COMP | c.1459G>C (p.Val487Leu) c.1300G>C (p.Val434Leu) c.1360G>C (p.Val454Leu) | |
19 | g.18785995C>T | CA404884264 | COMP | c.1459G>A (p.Val487Met) c.1300G>A (p.Val434Met) c.1360G>A (p.Val454Met) | COSMIC |
19 | g.18785996C>A | CA506117355 | COMP | c.1458G>T (p.Leu486=) c.1299G>T (p.Leu433=) c.1359G>T (p.Leu453=) | |
19 | g.18785996C>G | CA506117356 | COMP | c.1458G>C (p.Leu486=) c.1299G>C (p.Leu433=) c.1359G>C (p.Leu453=) | |
19 | g.18785996C>T | CA506117358 | COMP | c.1458G>A (p.Leu486=) c.1299G>A (p.Leu433=) c.1359G>A (p.Leu453=) | |
19 | g.18785997A= | CA2326525517 | COMP | c.1457T= (p.Leu486=) c.1298T= (p.Leu433=) c.1358T= (p.Leu453=) | |
19 | g.18785997A>C | CA404884270 | COMP | c.1457T>G (p.Leu486Arg) c.1298T>G (p.Leu433Arg) c.1358T>G (p.Leu453Arg) | |
19 | g.18785997A>G | CA306255165 | COMP | c.1457T>C (p.Leu486Pro) c.1298T>C (p.Leu433Pro) c.1358T>C (p.Leu453Pro) | dbSNP |
19 | g.18785997A>T | CA404884272 | COMP | c.1457T>A (p.Leu486Gln) c.1298T>A (p.Leu433Gln) c.1358T>A (p.Leu453Gln) | |
19 | g.18785998G>A | CA506117360 | COMP | c.1456C>T (p.Leu486=) c.1297C>T (p.Leu433=) c.1357C>T (p.Leu453=) | |
19 | g.18785998G>C | CA404884276 | COMP | c.1456C>G (p.Leu486Val) c.1297C>G (p.Leu433Val) c.1357C>G (p.Leu453Val) | dbSNP |
19 | g.18785998G= | CA2326525518 | COMP | c.1456C= (p.Leu486=) c.1297C= (p.Leu433=) c.1357C= (p.Leu453=) | |
19 | g.18785998G>T | CA306255187 | COMP | c.1456C>A (p.Leu486Met) c.1297C>A (p.Leu433Met) c.1357C>A (p.Leu453Met) | dbSNP |
19 | g.18785999G>A | CA506117361 | COMP | c.1455C>T (p.Arg485=) c.1296C>T (p.Arg432=) c.1356C>T (p.Arg452=) | |
19 | g.18785999G>C | CA506117363 | COMP | c.1455C>G (p.Arg485=) c.1296C>G (p.Arg432=) c.1356C>G (p.Arg452=) | gnomAD v4 |
19 | g.18785999G>T | CA506117366 | COMP | c.1455C>A (p.Arg485=) c.1296C>A (p.Arg432=) c.1356C>A (p.Arg452=) | |
19 | g.18786000C>A | CA404884278 | COMP | c.1454G>T (p.Arg485Leu) c.1295G>T (p.Arg432Leu) c.1355G>T (p.Arg452Leu) | |
19 | g.18786000C= | CA2326525519 | COMP | c.1454G= (p.Arg485=) c.1295G= (p.Arg432=) c.1355G= (p.Arg452=) | |
19 | g.18786000C>G | CA404884280 | COMP | c.1454G>C (p.Arg485Pro) c.1295G>C (p.Arg432Pro) c.1355G>C (p.Arg452Pro) | |
19 | g.18786000C>T | CA404884282 | COMP | c.1454G>A (p.Arg485His) c.1295G>A (p.Arg432His) c.1355G>A (p.Arg452His) | ClinVar dbSNP |
19 | g.18786001G>A | CA404884284 | COMP | c.1453C>T (p.Arg485Cys) c.1294C>T (p.Arg432Cys) c.1354C>T (p.Arg452Cys) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18786001G>C | CA9316419 | COMP | c.1453C>G (p.Arg485Gly) c.1294C>G (p.Arg432Gly) c.1354C>G (p.Arg452Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18786001G= | CA2326525520 | COMP | c.1453C= (p.Arg485=) c.1294C= (p.Arg432=) c.1354C= (p.Arg452=) | |
19 | g.18786001G>T | CA404884287 | COMP | c.1453C>A (p.Arg485Ser) c.1294C>A (p.Arg432Ser) c.1354C>A (p.Arg452Ser) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18786002G>A | CA506117370 | COMP | c.1452C>T (p.Cys484=) c.1293C>T (p.Cys431=) c.1353C>T (p.Cys451=) | dbSNP |
19 | g.18786002G>C | CA404884289 | COMP | c.1452C>G (p.Cys484Trp) c.1293C>G (p.Cys431Trp) c.1353C>G (p.Cys451Trp) | |
19 | g.18786002G= | CA2326525521 | COMP | c.1452C= (p.Cys484=) c.1293C= (p.Cys431=) c.1353C= (p.Cys451=) | |
19 | g.18786002G>T | CA404884290 | COMP | c.1452C>A (p.Cys484Ter) c.1293C>A (p.Cys431Ter) c.1353C>A (p.Cys451Ter) | dbSNP gnomAD v4 |
19 | g.18786003C>A | CA404884293 | COMP | c.1451G>T (p.Cys484Phe) c.1292G>T (p.Cys431Phe) c.1352G>T (p.Cys451Phe) | ClinVar |
19 | g.18786003C>G | CA404884295 | COMP | c.1451G>C (p.Cys484Ser) c.1292G>C (p.Cys431Ser) c.1352G>C (p.Cys451Ser) | |
19 | g.18786003C>T | CA404884296 | COMP | c.1451G>A (p.Cys484Tyr) c.1292G>A (p.Cys431Tyr) c.1352G>A (p.Cys451Tyr) | |
19 | g.18786004A>C | CA404884299 | COMP | c.1450T>G (p.Cys484Gly) c.1291T>G (p.Cys431Gly) c.1351T>G (p.Cys451Gly) | |
19 | g.18786004A>G | CA404884302 | COMP | c.1450T>C (p.Cys484Arg) c.1291T>C (p.Cys431Arg) c.1351T>C (p.Cys451Arg) | |
19 | g.18786004A>T | CA404884301 | COMP | c.1450T>A (p.Cys484Ser) c.1291T>A (p.Cys431Ser) c.1351T>A (p.Cys451Ser) | |
19 | g.18786005G>A | CA506117376 | COMP | c.1449C>T (p.Asn483=) c.1290C>T (p.Asn430=) c.1350C>T (p.Asn450=) | |
19 | g.18786005G>C | CA404884304 | COMP | c.1449C>G (p.Asn483Lys) c.1290C>G (p.Asn430Lys) c.1350C>G (p.Asn450Lys) | |
19 | g.18786005G>T | CA404884306 | COMP | c.1449C>A (p.Asn483Lys) c.1290C>A (p.Asn430Lys) c.1350C>A (p.Asn450Lys) | |
19 | g.18786006T>A | CA404884307 | COMP | c.1448A>T (p.Asn483Ile) c.1289A>T (p.Asn430Ile) c.1349A>T (p.Asn450Ile) | |
19 | g.18786006T>C | CA404884310 | COMP | c.1448A>G (p.Asn483Ser) c.1289A>G (p.Asn430Ser) c.1349A>G (p.Asn450Ser) | |
19 | g.18786006T>G | CA404884312 | COMP | c.1448A>C (p.Asn483Thr) c.1289A>C (p.Asn430Thr) c.1349A>C (p.Asn450Thr) | |
19 | g.18786007T>A | CA404884313 | COMP | c.1447A>T (p.Asn483Tyr) c.1288A>T (p.Asn430Tyr) c.1348A>T (p.Asn450Tyr) | |
19 | g.18786007T>C | CA404884314 | COMP | c.1447A>G (p.Asn483Asp) c.1288A>G (p.Asn430Asp) c.1348A>G (p.Asn450Asp) | |
19 | g.18786007T>G | CA404884315 | COMP | c.1447A>C (p.Asn483His) c.1288A>C (p.Asn430His) c.1348A>C (p.Asn450His) | |
19 | g.18786008G>A | CA9316420 | COMP | c.1446C>T (p.Asp482=) c.1287C>T (p.Asp429=) c.1347C>T (p.Asp449=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18786008G>C | CA404884316 | COMP | c.1446C>G (p.Asp482Glu) c.1287C>G (p.Asp429Glu) c.1347C>G (p.Asp449Glu) | |
19 | g.18786008G= | CA2326525522 | COMP | c.1446C= (p.Asp482=) c.1287C= (p.Asp429=) c.1347C= (p.Asp449=) | |
19 | g.18786008G>T | CA404884317 | COMP | c.1446C>A (p.Asp482Glu) c.1287C>A (p.Asp429Glu) c.1347C>A (p.Asp449Glu) | gnomAD v4 |
19 | g.18786008_18786009delinsGT | CA2326525523 | COMP | c.1445_1446delinsAC (p.Asp482=) c.1286_1287delinsAC (p.Asp429=) c.1346_1347delinsAC (p.Asp449=) | |
19 | g.18786009del | CA306255220 | COMP | c.1445del (p.Asp482AlafsTer?) c.1286del (p.Asp429AlafsTer?) c.1346del (p.Asp449AlafsTer?) | dbSNP gnomAD v4 |
19 | g.18786009T>A | CA404884323 | COMP | c.1445A>T (p.Asp482Val) c.1286A>T (p.Asp429Val) c.1346A>T (p.Asp449Val) | ClinVar dbSNP |
19 | g.18786009T>C | CA404884319 | COMP | c.1445A>G (p.Asp482Gly) c.1286A>G (p.Asp429Gly) c.1346A>G (p.Asp449Gly) | |
19 | g.18786009T>G | CA404884318 | COMP | c.1445A>C (p.Asp482Ala) c.1286A>C (p.Asp429Ala) c.1346A>C (p.Asp449Ala) | |
19 | g.18786009T= | CA2326525524 | COMP | c.1445A= (p.Asp482=) c.1286A= (p.Asp429=) c.1346A= (p.Asp449=) | |
19 | g.18786010C>A | CA404884331 | COMP | c.1444G>T (p.Asp482Tyr) c.1285G>T (p.Asp429Tyr) c.1345G>T (p.Asp449Tyr) | |
19 | g.18786010C>G | CA404884326 | COMP | c.1444G>C (p.Asp482His) c.1285G>C (p.Asp429His) c.1345G>C (p.Asp449His) | |
19 | g.18786010C>T | CA404884328 | COMP | c.1444G>A (p.Asp482Asn) c.1285G>A (p.Asp429Asn) c.1345G>A (p.Asp449Asn) | ClinVar dbSNP |
19 | g.18786011C>A | CA506117383 | COMP | c.1443G>T (p.Arg481=) c.1284G>T (p.Arg428=) c.1344G>T (p.Arg448=) | dbSNP gnomAD v4 |
19 | g.18786011C= | CA2326525525 | COMP | c.1443G= (p.Arg481=) c.1284G= (p.Arg428=) c.1344G= (p.Arg448=) | |
19 | g.18786011C>G | CA506117385 | COMP | c.1443G>C (p.Arg481=) c.1284G>C (p.Arg428=) c.1344G>C (p.Arg448=) | |
19 | g.18786011C>T | CA506117384 | COMP | c.1443G>A (p.Arg481=) c.1284G>A (p.Arg428=) c.1344G>A (p.Arg448=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18786012C>A | CA404884337 | COMP | c.1442G>T (p.Arg481Leu) c.1283G>T (p.Arg428Leu) c.1343G>T (p.Arg448Leu) | |
19 | g.18786012C= | CA2326525526 | COMP | c.1442G= (p.Arg481=) c.1283G= (p.Arg428=) c.1343G= (p.Arg448=) | |
19 | g.18786012C>G | CA404884340 | COMP | c.1442G>C (p.Arg481Pro) c.1283G>C (p.Arg428Pro) c.1343G>C (p.Arg448Pro) | gnomAD v4 |
19 | g.18786012C>T | CA9316421 | COMP | c.1442G>A (p.Arg481Gln) c.1283G>A (p.Arg428Gln) c.1343G>A (p.Arg448Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18786013G>A | CA9316422 | COMP | c.1441C>T (p.Arg481Trp) c.1282C>T (p.Arg428Trp) c.1342C>T (p.Arg448Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18786013G>C | CA404884351 | COMP | c.1441C>G (p.Arg481Gly) c.1282C>G (p.Arg428Gly) c.1342C>G (p.Arg448Gly) | gnomAD v4 |
19 | g.18786013G= | CA2326525527 | COMP | c.1441C= (p.Arg481=) c.1282C= (p.Arg428=) c.1342C= (p.Arg448=) | |
19 | g.18786013G>T | CA506117389 | COMP | c.1441C>A (p.Arg481=) c.1282C>A (p.Arg428=) c.1342C>A (p.Arg448=) | gnomAD v4 |
19 | g.18786014A>C | CA404884354 | COMP | c.1440T>G (p.Ser480Arg) c.1281T>G (p.Ser427Arg) c.1341T>G (p.Ser447Arg) | |
19 | g.18786014A>G | CA506117391 | COMP | c.1440T>C (p.Ser480=) c.1281T>C (p.Ser427=) c.1341T>C (p.Ser447=) | |
19 | g.18786014A>T | CA404884356 | COMP | c.1440T>A (p.Ser480Arg) c.1281T>A (p.Ser427Arg) c.1341T>A (p.Ser447Arg) | |
19 | g.18786015C>A | CA404884360 | COMP | c.1439G>T (p.Ser480Ile) c.1280G>T (p.Ser427Ile) c.1340G>T (p.Ser447Ile) | |
19 | g.18786015C>G | CA404884364 | COMP | c.1439G>C (p.Ser480Thr) c.1280G>C (p.Ser427Thr) c.1340G>C (p.Ser447Thr) | |
19 | g.18786015C>T | CA404884365 | COMP | c.1439G>A (p.Ser480Asn) c.1280G>A (p.Ser427Asn) c.1340G>A (p.Ser447Asn) | gnomAD v4 |
19 | g.18786016T>A | CA404884367 | COMP | c.1438A>T (p.Ser480Cys) c.1279A>T (p.Ser427Cys) c.1339A>T (p.Ser447Cys) | |
19 | g.18786016T>C | CA404884368 | COMP | c.1438A>G (p.Ser480Gly) c.1279A>G (p.Ser427Gly) c.1339A>G (p.Ser447Gly) | |
19 | g.18786016T>G | CA404884366 | COMP | c.1438A>C (p.Ser480Arg) c.1279A>C (p.Ser427Arg) c.1339A>C (p.Ser447Arg) | |
19 | g.18786017G>A | CA506117394 | COMP | c.1437C>T (p.Asp479=) c.1278C>T (p.Asp426=) c.1338C>T (p.Asp446=) | dbSNP |
19 | g.18786017G>C | CA404884371 | COMP | c.1437C>G (p.Asp479Glu) c.1278C>G (p.Asp426Glu) c.1338C>G (p.Asp446Glu) | |
19 | g.18786017G= | CA2326525528 | COMP | c.1437C= (p.Asp479=) c.1278C= (p.Asp426=) c.1338C= (p.Asp446=) | |
19 | g.18786017G>T | CA404884373 | COMP | c.1437C>A (p.Asp479Glu) c.1278C>A (p.Asp426Glu) c.1338C>A (p.Asp446Glu) | |
19 | g.18786021_18786032del | CA915940661 | COMP | c.1426_1437del (p.Gly476_Asp479del) c.1267_1278del (p.Gly423_Asp426del) c.1327_1338del (p.Gly443_Asp446del) | |
19 | g.18786018T>A | CA404884376 | COMP | c.1436A>T (p.Asp479Val) c.1277A>T (p.Asp426Val) c.1337A>T (p.Asp446Val) | ClinVar |
19 | g.18786018T>C | CA404884379 | COMP | c.1436A>G (p.Asp479Gly) c.1277A>G (p.Asp426Gly) c.1337A>G (p.Asp446Gly) | |
19 | g.18786018T>G | CA404884381 | COMP | c.1436A>C (p.Asp479Ala) c.1277A>C (p.Asp426Ala) c.1337A>C (p.Asp446Ala) | |
19 | g.18786019C>A | CA404884390 | COMP | c.1435G>T (p.Asp479Tyr) c.1276G>T (p.Asp426Tyr) c.1336G>T (p.Asp446Tyr) | |
19 | g.18786019C>G | CA404884385 | COMP | c.1435G>C (p.Asp479His) c.1276G>C (p.Asp426His) c.1336G>C (p.Asp446His) | ClinVar dbSNP |
19 | g.18786019C>T | CA404884387 | COMP | c.1435G>A (p.Asp479Asn) c.1276G>A (p.Asp426Asn) c.1336G>A (p.Asp446Asn) | |
19 | g.18786020A>C | CA506117400 | COMP | c.1434T>G (p.Pro478=) c.1275T>G (p.Pro425=) c.1335T>G (p.Pro445=) | gnomAD v4 |
19 | g.18786020A>G | CA506117401 | COMP | c.1434T>C (p.Pro478=) c.1275T>C (p.Pro425=) c.1335T>C (p.Pro445=) | |
19 | g.18786020A>T | CA506117403 | COMP | c.1434T>A (p.Pro478=) c.1275T>A (p.Pro425=) c.1335T>A (p.Pro445=) | |
19 | g.18786021G>A | CA404884394 | COMP | c.1433C>T (p.Pro478Leu) c.1274C>T (p.Pro425Leu) c.1334C>T (p.Pro445Leu) | |
19 | g.18786021G>C | CA404884396 | COMP | c.1433C>G (p.Pro478Arg) c.1274C>G (p.Pro425Arg) c.1334C>G (p.Pro445Arg) | |
19 | g.18786021G= | CA2326525529 | COMP | c.1433C= (p.Pro478=) c.1274C= (p.Pro425=) c.1334C= (p.Pro445=) | |
19 | g.18786021G>T | CA9316423 | COMP | c.1433C>A (p.Pro478His) c.1274C>A (p.Pro425His) c.1334C>A (p.Pro445His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18786022G>A | CA404884402 | COMP | c.1432C>T (p.Pro478Ser) c.1273C>T (p.Pro425Ser) c.1333C>T (p.Pro445Ser) | COSMIC |
19 | g.18786022G>C | CA404884406 | COMP | c.1432C>G (p.Pro478Ala) c.1273C>G (p.Pro425Ala) c.1333C>G (p.Pro445Ala) | |
19 | g.18786022G>T | CA404884408 | COMP | c.1432C>A (p.Pro478Thr) c.1273C>A (p.Pro425Thr) c.1333C>A (p.Pro445Thr) | |
19 | g.18786023G>A | CA506117410 | COMP | c.1431C>T (p.Val477=) c.1272C>T (p.Val424=) c.1332C>T (p.Val444=) | |
19 | g.18786023G>C | CA506117411 | COMP | c.1431C>G (p.Val477=) c.1272C>G (p.Val424=) c.1332C>G (p.Val444=) | |
19 | g.18786023G= | CA2326525530 | COMP | c.1431C= (p.Val477=) c.1272C= (p.Val424=) c.1332C= (p.Val444=) | |
19 | g.18786023G>T | CA506117412 | COMP | c.1431C>A (p.Val477=) c.1272C>A (p.Val424=) c.1332C>A (p.Val444=) | dbSNP gnomAD v4 |
19 | g.18786024A= | CA2326525531 | COMP | c.1430T= (p.Val477=) c.1271T= (p.Val424=) c.1331T= (p.Val444=) | |
19 | g.18786024A>C | CA404884411 | COMP | c.1430T>G (p.Val477Gly) c.1271T>G (p.Val424Gly) c.1331T>G (p.Val444Gly) | |
19 | g.18786024A>G | CA404884412 | COMP | c.1430T>C (p.Val477Ala) c.1271T>C (p.Val424Ala) c.1331T>C (p.Val444Ala) | dbSNP |
19 | g.18786024A>T | CA404884410 | COMP | c.1430T>A (p.Val477Asp) c.1271T>A (p.Val424Asp) c.1331T>A (p.Val444Asp) | |
19 | g.18786025C>A | CA404884414 | COMP | c.1429G>T (p.Val477Phe) c.1270G>T (p.Val424Phe) c.1330G>T (p.Val444Phe) | |
19 | g.18786025C= | CA2326525532 | COMP | c.1429G= (p.Val477=) c.1270G= (p.Val424=) c.1330G= (p.Val444=) | |
19 | g.18786025C>G | CA404884415 | COMP | c.1429G>C (p.Val477Leu) c.1270G>C (p.Val424Leu) c.1330G>C (p.Val444Leu) | |
19 | g.18786025C>T | CA404884418 | COMP | c.1429G>A (p.Val477Ile) c.1270G>A (p.Val424Ile) c.1330G>A (p.Val444Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18786026T>A | CA506117417 | COMP | c.1428A>T (p.Gly476=) c.1269A>T (p.Gly423=) c.1329A>T (p.Gly443=) | |
19 | g.18786026T>C | CA506117418 | COMP | c.1428A>G (p.Gly476=) c.1269A>G (p.Gly423=) c.1329A>G (p.Gly443=) | |
19 | g.18786026T>G | CA506117419 | COMP | c.1428A>C (p.Gly476=) c.1269A>C (p.Gly423=) c.1329A>C (p.Gly443=) | gnomAD v4 |
19 | g.18786027C>A | CA404884421 | COMP | c.1427G>T (p.Gly476Val) c.1268G>T (p.Gly423Val) c.1328G>T (p.Gly443Val) | gnomAD v4 |
19 | g.18786027C>G | CA404884424 | COMP | c.1427G>C (p.Gly476Ala) c.1268G>C (p.Gly423Ala) c.1328G>C (p.Gly443Ala) | |
19 | g.18786027C>T | CA404884427 | COMP | c.1427G>A (p.Gly476Glu) c.1268G>A (p.Gly423Glu) c.1328G>A (p.Gly443Glu) | |
19 | g.18786028C>A | CA404884430 | COMP | c.1426G>T (p.Gly476Ter) c.1267G>T (p.Gly423Ter) c.1327G>T (p.Gly443Ter) | |
19 | g.18786028C= | CA2326525533 | COMP | c.1426G= (p.Gly476=) c.1267G= (p.Gly423=) c.1327G= (p.Gly443=) | |
19 | g.18786028C>G | CA404884432 | COMP | c.1426G>C (p.Gly476Arg) c.1267G>C (p.Gly423Arg) c.1327G>C (p.Gly443Arg) | |
19 | g.18786028C>T | CA404884435 | COMP | c.1426G>A (p.Gly476Arg) c.1267G>A (p.Gly423Arg) c.1327G>A (p.Gly443Arg) | dbSNP gnomAD v2 |
19 | g.18786029G>A | CA506117421 | COMP | c.1425C>T (p.Asp475=) c.1266C>T (p.Asp422=) c.1326C>T (p.Asp442=) | dbSNP |
19 | g.18786029G>C | CA404884436 | COMP | c.1425C>G (p.Asp475Glu) c.1266C>G (p.Asp422Glu) c.1326C>G (p.Asp442Glu) | |
19 | g.18786029G= | CA2326525534 | COMP | c.1425C= (p.Asp475=) c.1266C= (p.Asp422=) c.1326C= (p.Asp442=) | |
19 | g.18786029G>T | CA404884437 | COMP | c.1425C>A (p.Asp475Glu) c.1266C>A (p.Asp422Glu) c.1326C>A (p.Asp442Glu) | gnomAD v4 |
19 | g.18786032_18786037dup | CA2695228427 | COMP | c.1420_1425dup (p.Asp475_Gly476insAsnAsp) c.1261_1266dup (p.Asp422_Gly423insAsnAsp) c.1321_1326dup (p.Asp442_Gly443insAsnAsp) | ClinVar |
19 | g.18786030T>A | CA404884442 | COMP | c.1424A>T (p.Asp475Val) c.1265A>T (p.Asp422Val) c.1325A>T (p.Asp442Val) | COSMIC |
19 | g.18786030T>C | CA404884441 | COMP | c.1424A>G (p.Asp475Gly) c.1265A>G (p.Asp422Gly) c.1325A>G (p.Asp442Gly) | |
19 | g.18786030T>G | CA404884439 | COMP | c.1424A>C (p.Asp475Ala) c.1265A>C (p.Asp422Ala) c.1325A>C (p.Asp442Ala) | |
19 | g.18786031C>A | CA404884444 | COMP | c.1423G>T (p.Asp475Tyr) c.1264G>T (p.Asp422Tyr) c.1324G>T (p.Asp442Tyr) | |
19 | g.18786031C>G | CA404884447 | COMP | c.1423G>C (p.Asp475His) c.1264G>C (p.Asp422His) c.1324G>C (p.Asp442His) | |
19 | g.18786031C>T | CA404884452 | COMP | c.1423G>A (p.Asp475Asn) c.1264G>A (p.Asp422Asn) c.1324G>A (p.Asp442Asn) | ClinVar |
19 | g.18786032A>C | CA404884458 | COMP | c.1422T>G (p.Asn474Lys) c.1263T>G (p.Asn421Lys) c.1323T>G (p.Asn441Lys) | |
19 | g.18786032A>G | CA506117423 | COMP | c.1422T>C (p.Asn474=) c.1263T>C (p.Asn421=) c.1323T>C (p.Asn441=) | |
19 | g.18786032A>T | CA404884463 | COMP | c.1422T>A (p.Asn474Lys) c.1263T>A (p.Asn421Lys) c.1323T>A (p.Asn441Lys) | |
19 | g.18786032_18786034del | CA2695228428 | COMP | c.1420_1422del (p.Asn474del) c.1261_1263del (p.Asn421del) c.1321_1323del (p.Asn441del) | |
19 | g.18786032_18786038delinsATTGTCG | CA2326525535 | COMP | c.1416_1422delinsCGACAAT (p.Asp472=) c.1257_1263delinsCGACAAT (p.Asp419=) c.1317_1323delinsCGACAAT (p.Asp439=) | |
19 | g.18786033T>A | CA404884469 | COMP | c.1421A>T (p.Asn474Ile) c.1262A>T (p.Asn421Ile) c.1322A>T (p.Asn441Ile) | |
19 | g.18786033T>C | CA404884473 | COMP | c.1421A>G (p.Asn474Ser) c.1262A>G (p.Asn421Ser) c.1322A>G (p.Asn441Ser) | |
19 | g.18786033T>G | CA404884481 | COMP | c.1421A>C (p.Asn474Thr) c.1262A>C (p.Asn421Thr) c.1322A>C (p.Asn441Thr) | |
19 | g.18786034_18786039del | CA1139666379 | COMP | c.1416_1421del (p.Asp473_Asn474del) c.1257_1262del (p.Asp420_Asn421del) c.1317_1322del (p.Asp440_Asn441del) | ClinVar dbSNP |
19 | g.18786034T>A | CA404884484 | COMP | c.1420A>T (p.Asn474Tyr) c.1261A>T (p.Asn421Tyr) c.1321A>T (p.Asn441Tyr) | |
19 | g.18786034T>C | CA404884495 | COMP | c.1420A>G (p.Asn474Asp) c.1261A>G (p.Asn421Asp) c.1321A>G (p.Asn441Asp) | |
19 | g.18786034T>G | CA404884499 | COMP | c.1420A>C (p.Asn474His) c.1261A>C (p.Asn421His) c.1321A>C (p.Asn441His) | dbSNP |
19 | g.18786034T= | CA2326525537 | COMP | c.1420A= (p.Asn474=) c.1261A= (p.Asn421=) c.1321A= (p.Asn441=) | |
19 | g.18786034_18786037delinsTGTC | CA2326525536 | COMP | c.1417_1420delinsGACA (p.Asp473=) c.1258_1261delinsGACA (p.Asp420=) c.1318_1321delinsGACA (p.Asp440=) | |
19 | g.18786035G>A | CA506117431 | COMP | c.1419C>T (p.Asp473=) c.1260C>T (p.Asp420=) c.1320C>T (p.Asp440=) | |
19 | g.18786035G>C | CA404884525 | COMP | c.1419C>G (p.Asp473Glu) c.1260C>G (p.Asp420Glu) c.1320C>G (p.Asp440Glu) | |
19 | g.18786035G>T | CA404884533 | COMP | c.1419C>A (p.Asp473Glu) c.1260C>A (p.Asp420Glu) c.1320C>A (p.Asp440Glu) | gnomAD v4 |
19 | g.18786048_18786050dup | CA340879 | COMP | c.1417_1419dup (p.Asp473_Asn474insAsp) c.1258_1260dup (p.Asp420_Asn421insAsp) c.1318_1320dup (p.Asp440_Asn441insAsp) | ClinVar dbSNP |
19 | g.18786045_18786050dup | CA645373265 | COMP | c.1414_1419dup (p.Asp473_Asn474insAspAsp) c.1255_1260dup (p.Asp420_Asn421insAspAsp) c.1315_1320dup (p.Asp440_Asn441insAspAsp) | ClinVar dbSNP |
19 | g.18786048_18786050del | CA343853 | COMP | c.1417_1419del (p.Asp473del) c.1258_1260del (p.Asp420del) c.1318_1320del (p.Asp440del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18786045_18786050del | CA2695228430 | COMP | c.1414_1419del (p.Asp472_Asp473del) c.1255_1260del (p.Asp419_Asp420del) c.1315_1320del (p.Asp439_Asp440del) | |
19 | g.18786042_18786050del | CA2695228429 | COMP | c.1411_1419del (p.Asp471_Asp473del) c.1252_1260del (p.Asp418_Asp420del) c.1312_1320del (p.Asp438_Asp440del) | |
19 | g.18786036T>A | CA404884535 | COMP | c.1418A>T (p.Asp473Val) c.1259A>T (p.Asp420Val) c.1319A>T (p.Asp440Val) | |
19 | g.18786036T>C | CA120169 | COMP | c.1418A>G (p.Asp473Gly) c.1259A>G (p.Asp420Gly) c.1319A>G (p.Asp440Gly) | ClinVar dbSNP |
19 | g.18786036T>G | CA404884538 | COMP | c.1418A>C (p.Asp473Ala) c.1259A>C (p.Asp420Ala) c.1319A>C (p.Asp440Ala) | |
19 | g.18786036T= | CA2326525538 | COMP | c.1418A= (p.Asp473=) c.1259A= (p.Asp420=) c.1319A= (p.Asp440=) | |
19 | g.18786037C>A | CA404884540 | COMP | c.1417G>T (p.Asp473Tyr) c.1258G>T (p.Asp420Tyr) c.1318G>T (p.Asp440Tyr) | |
19 | g.18786037C>G | CA404884543 | COMP | c.1417G>C (p.Asp473His) c.1258G>C (p.Asp420His) c.1318G>C (p.Asp440His) | ClinVar |
19 | g.18786037C>T | CA404884546 | COMP | c.1417G>A (p.Asp473Asn) c.1258G>A (p.Asp420Asn) c.1318G>A (p.Asp440Asn) | ClinVar |
19 | g.18786038G>A | CA506117434 | COMP | c.1416C>T (p.Asp472=) c.1257C>T (p.Asp419=) c.1317C>T (p.Asp439=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18786038G>C | CA404884550 | COMP | c.1416C>G (p.Asp472Glu) c.1257C>G (p.Asp419Glu) c.1317C>G (p.Asp439Glu) | |
19 | g.18786038G= | CA2326525539 | COMP | c.1416C= (p.Asp472=) c.1257C= (p.Asp419=) c.1317C= (p.Asp439=) | |
19 | g.18786038G>T | CA404884552 | COMP | c.1416C>A (p.Asp472Glu) c.1257C>A (p.Asp419Glu) c.1317C>A (p.Asp439Glu) | |
19 | g.18786039T>A | CA404884556 | COMP | c.1415A>T (p.Asp472Val) c.1256A>T (p.Asp419Val) c.1316A>T (p.Asp439Val) | |
19 | g.18786039T>C | CA404884560 | COMP | c.1415A>G (p.Asp472Gly) c.1256A>G (p.Asp419Gly) c.1316A>G (p.Asp439Gly) | |
19 | g.18786039T>G | CA404884563 | COMP | c.1415A>C (p.Asp472Ala) c.1256A>C (p.Asp419Ala) c.1316A>C (p.Asp439Ala) | |
19 | g.18786040C>A | CA254700 | COMP | c.1414G>T (p.Asp472Tyr) c.1255G>T (p.Asp419Tyr) c.1315G>T (p.Asp439Tyr) | ClinVar dbSNP |
19 | g.18786040C= | CA2326525540 | COMP | c.1414G= (p.Asp472=) c.1255G= (p.Asp419=) c.1315G= (p.Asp439=) | |
19 | g.18786040C>G | CA404884573 | COMP | c.1414G>C (p.Asp472His) c.1255G>C (p.Asp419His) c.1315G>C (p.Asp439His) | ClinVar dbSNP |
19 | g.18786040C>T | CA404884571 | COMP | c.1414G>A (p.Asp472Asn) c.1255G>A (p.Asp419Asn) c.1315G>A (p.Asp439Asn) | |
19 | g.18786041G>A | CA506117439 | COMP | c.1413C>T (p.Asp471=) c.1254C>T (p.Asp418=) c.1314C>T (p.Asp438=) | ClinVar dbSNP gnomAD v4 |
19 | g.18786041G>C | CA404884575 | COMP | c.1413C>G (p.Asp471Glu) c.1254C>G (p.Asp418Glu) c.1314C>G (p.Asp438Glu) | gnomAD v4 |
19 | g.18786041G= | CA2326525541 | COMP | c.1413C= (p.Asp471=) c.1254C= (p.Asp418=) c.1314C= (p.Asp438=) | |
19 | g.18786041G>T | CA404884579 | COMP | c.1413C>A (p.Asp471Glu) c.1254C>A (p.Asp418Glu) c.1314C>A (p.Asp438Glu) | |
19 | g.18786042T>A | CA404884581 | COMP | c.1412A>T (p.Asp471Val) c.1253A>T (p.Asp418Val) c.1313A>T (p.Asp438Val) | |
19 | g.18786042T>C | CA404884585 | COMP | c.1412A>G (p.Asp471Gly) c.1253A>G (p.Asp418Gly) c.1313A>G (p.Asp438Gly) | |
19 | g.18786042T>G | CA404884595 | COMP | c.1412A>C (p.Asp471Ala) c.1253A>C (p.Asp418Ala) c.1313A>C (p.Asp438Ala) | |
19 | g.18786043C>A | CA306255334 | COMP | c.1411G>T (p.Asp471Tyr) c.1252G>T (p.Asp418Tyr) c.1312G>T (p.Asp438Tyr) | dbSNP |
19 | g.18786043C= | CA2326525542 | COMP | c.1411G= (p.Asp471=) c.1252G= (p.Asp418=) c.1312G= (p.Asp438=) | |
19 | g.18786043C>G | CA404884598 | COMP | c.1411G>C (p.Asp471His) c.1252G>C (p.Asp418His) c.1312G>C (p.Asp438His) | ClinVar |
19 | g.18786043C>T | CA404884597 | COMP | c.1411G>A (p.Asp471Asn) c.1252G>A (p.Asp418Asn) c.1312G>A (p.Asp438Asn) | |
19 | g.18786044G>A | CA9316424 | COMP | c.1410C>T (p.Asp470=) c.1251C>T (p.Asp417=) c.1311C>T (p.Asp437=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18786044G>C | CA404884602 | COMP | c.1410C>G (p.Asp470Glu) c.1251C>G (p.Asp417Glu) c.1311C>G (p.Asp437Glu) | |
19 | g.18786044G= | CA2326525543 | COMP | c.1410C= (p.Asp470=) c.1251C= (p.Asp417=) c.1311C= (p.Asp437=) | |
19 | g.18786044G>T | CA404884605 | COMP | c.1410C>A (p.Asp470Glu) c.1251C>A (p.Asp417Glu) c.1311C>A (p.Asp437Glu) | |
19 | g.18786045T>A | CA404884609 | COMP | c.1409A>T (p.Asp470Val) c.1250A>T (p.Asp417Val) c.1310A>T (p.Asp437Val) | |
19 | g.18786045T>C | CA404884615 | COMP | c.1409A>G (p.Asp470Gly) c.1250A>G (p.Asp417Gly) c.1310A>G (p.Asp437Gly) | |
19 | g.18786045T>G | CA404884617 | COMP | c.1409A>C (p.Asp470Ala) c.1250A>C (p.Asp417Ala) c.1310A>C (p.Asp437Ala) | |
19 | g.18786046C>A | CA404884626 | COMP | c.1408G>T (p.Asp470Tyr) c.1249G>T (p.Asp417Tyr) c.1309G>T (p.Asp437Tyr) | |
19 | g.18786046C>G | CA404884624 | COMP | c.1408G>C (p.Asp470His) c.1249G>C (p.Asp417His) c.1309G>C (p.Asp437His) | |
19 | g.18786046C>T | CA404884621 | COMP | c.1408G>A (p.Asp470Asn) c.1249G>A (p.Asp417Asn) c.1309G>A (p.Asp437Asn) | |
19 | g.18786047G>A | CA9316425 | COMP | c.1407C>T (p.Asp469=) c.1248C>T (p.Asp416=) c.1308C>T (p.Asp436=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18786047G>C | CA404884630 | COMP | c.1407C>G (p.Asp469Glu) c.1248C>G (p.Asp416Glu) c.1308C>G (p.Asp436Glu) | |
19 | g.18786047G= | CA2326525544 | COMP | c.1407C= (p.Asp469=) c.1248C= (p.Asp416=) c.1308C= (p.Asp436=) | |
19 | g.18786047G>T | CA404884627 | COMP | c.1407C>A (p.Asp469Glu) c.1248C>A (p.Asp416Glu) c.1308C>A (p.Asp436Glu) | |
19 | g.18786048T>A | CA9316426 | COMP | c.1406A>T (p.Asp469Val) c.1247A>T (p.Asp416Val) c.1307A>T (p.Asp436Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18786048T>C | CA404884643 | COMP | c.1406A>G (p.Asp469Gly) c.1247A>G (p.Asp416Gly) c.1307A>G (p.Asp436Gly) | COSMIC |
19 | g.18786048T>G | CA404884633 | COMP | c.1406A>C (p.Asp469Ala) c.1247A>C (p.Asp416Ala) c.1307A>C (p.Asp436Ala) | |
19 | g.18786048T= | CA2326525545 | COMP | c.1406A= (p.Asp469=) c.1247A= (p.Asp416=) c.1307A= (p.Asp436=) | |
19 | g.18786049C>A | CA404884647 | COMP | c.1405G>T (p.Asp469Tyr) c.1246G>T (p.Asp416Tyr) c.1306G>T (p.Asp436Tyr) | |
19 | g.18786049C>G | CA404884649 | COMP | c.1405G>C (p.Asp469His) c.1246G>C (p.Asp416His) c.1306G>C (p.Asp436His) | |
19 | g.18786049C>T | CA404884650 | COMP | c.1405G>A (p.Asp469Asn) c.1246G>A (p.Asp416Asn) c.1306G>A (p.Asp436Asn) | |
19 | g.18786050G>A | CA506117446 | COMP | c.1404C>T (p.Cys468=) c.1245C>T (p.Cys415=) c.1305C>T (p.Cys435=) | ClinVar dbSNP gnomAD v4 |
19 | g.18786050G>C | CA404884653 | COMP | c.1404C>G (p.Cys468Trp) c.1245C>G (p.Cys415Trp) c.1305C>G (p.Cys435Trp) | ClinVar dbSNP |
19 | g.18786050G= | CA2326525546 | COMP | c.1404C= (p.Cys468=) c.1245C= (p.Cys415=) c.1305C= (p.Cys435=) | |
19 | g.18786050G>T | CA9316427 | COMP | c.1404C>A (p.Cys468Ter) c.1245C>A (p.Cys415Ter) c.1305C>A (p.Cys435Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18786051C>A | CA404884655 | COMP | c.1403G>T (p.Cys468Phe) c.1244G>T (p.Cys415Phe) c.1304G>T (p.Cys435Phe) | ClinVar dbSNP |
19 | g.18786051C= | CA2326525547 | COMP | c.1403G= (p.Cys468=) c.1244G= (p.Cys415=) c.1304G= (p.Cys435=) | |
19 | g.18786051C>G | CA404884657 | COMP | c.1403G>C (p.Cys468Ser) c.1244G>C (p.Cys415Ser) c.1304G>C (p.Cys435Ser) | ClinVar dbSNP |
19 | g.18786051C>T | CA254701 | COMP | c.1403G>A (p.Cys468Tyr) c.1244G>A (p.Cys415Tyr) c.1304G>A (p.Cys435Tyr) | ClinVar dbSNP |
19 | g.18786052A>C | CA404884658 | COMP | c.1402T>G (p.Cys468Gly) c.1243T>G (p.Cys415Gly) c.1303T>G (p.Cys435Gly) | |
19 | g.18786052A>G | CA404884659 | COMP | c.1402T>C (p.Cys468Arg) c.1243T>C (p.Cys415Arg) c.1303T>C (p.Cys435Arg) | ClinVar |
19 | g.18786052A>T | CA404884661 | COMP | c.1402T>A (p.Cys468Ser) c.1243T>A (p.Cys415Ser) c.1303T>A (p.Cys435Ser) | |
19 | g.18786053G>A | CA506117449 | COMP | c.1401C>T (p.Ala467=) c.1242C>T (p.Ala414=) c.1302C>T (p.Ala434=) | gnomAD v4 |
19 | g.18786053G>C | CA506117448 | COMP | c.1401C>G (p.Ala467=) c.1242C>G (p.Ala414=) c.1302C>G (p.Ala434=) | |
19 | g.18786053G>T | CA506117451 | COMP | c.1401C>A (p.Ala467=) c.1242C>A (p.Ala414=) c.1302C>A (p.Ala434=) | |
19 | g.18786054dup | CA2842543174 | COMP | c.1401dup (p.Cys468LeufsTer8) c.1242dup (p.Cys415LeufsTer8) c.1302dup (p.Cys435LeufsTer8) | |
19 | g.18786054G>A | CA404884670 | COMP | c.1400C>T (p.Ala467Val) c.1241C>T (p.Ala414Val) c.1301C>T (p.Ala434Val) | |
19 | g.18786054G>C | CA404884666 | COMP | c.1400C>G (p.Ala467Gly) c.1241C>G (p.Ala414Gly) c.1301C>G (p.Ala434Gly) | |
19 | g.18786054G>T | CA404884665 | COMP | c.1400C>A (p.Ala467Asp) c.1241C>A (p.Ala414Asp) c.1301C>A (p.Ala434Asp) | |
19 | g.18786055C>A | CA9316428 | COMP | c.1399G>T (p.Ala467Ser) c.1240G>T (p.Ala414Ser) c.1300G>T (p.Ala434Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18786055C= | CA2326525548 | COMP | c.1399G= (p.Ala467=) c.1240G= (p.Ala414=) c.1300G= (p.Ala434=) | |
19 | g.18786055C>G | CA404884681 | COMP | c.1399G>C (p.Ala467Pro) c.1240G>C (p.Ala414Pro) c.1300G>C (p.Ala434Pro) | |
19 | g.18786055C>T | CA404884685 | COMP | c.1399G>A (p.Ala467Thr) c.1240G>A (p.Ala414Thr) c.1300G>A (p.Ala434Thr) | |
19 | g.18786056A>C | CA404884689 | COMP | c.1398T>G (p.Asp466Glu) c.1239T>G (p.Asp413Glu) c.1299T>G (p.Asp433Glu) | |
19 | g.18786056A>G | CA506117454 | COMP | c.1398T>C (p.Asp466=) c.1239T>C (p.Asp413=) c.1299T>C (p.Asp433=) | gnomAD v4 |
19 | g.18786056A>T | CA404884690 | COMP | c.1398T>A (p.Asp466Glu) c.1239T>A (p.Asp413Glu) c.1299T>A (p.Asp433Glu) | |
19 | g.18786057del | CA2576725780 | COMP | c.1397del (p.Asp466ValfsTer?) c.1238del (p.Asp413ValfsTer?) c.1298del (p.Asp433ValfsTer?) | |
19 | g.18786057T>A | CA404884692 | COMP | c.1397A>T (p.Asp466Val) c.1238A>T (p.Asp413Val) c.1298A>T (p.Asp433Val) | |
19 | g.18786057T>C | CA404884694 | COMP | c.1397A>G (p.Asp466Gly) c.1238A>G (p.Asp413Gly) c.1298A>G (p.Asp433Gly) | |
19 | g.18786057T>G | CA404884695 | COMP | c.1397A>C (p.Asp466Ala) c.1238A>C (p.Asp413Ala) c.1298A>C (p.Asp433Ala) | |
19 | g.18786058C>A | CA404884702 | COMP | c.1396G>T (p.Asp466Tyr) c.1237G>T (p.Asp413Tyr) c.1297G>T (p.Asp433Tyr) | |
19 | g.18786058C>G | CA404884704 | COMP | c.1396G>C (p.Asp466His) c.1237G>C (p.Asp413His) c.1297G>C (p.Asp433His) | |
19 | g.18786058C>T | CA404884711 | COMP | c.1396G>A (p.Asp466Asn) c.1237G>A (p.Asp413Asn) c.1297G>A (p.Asp433Asn) | |
19 | g.18786059A>C | CA506117456 | COMP | c.1395T>G (p.Gly465=) c.1236T>G (p.Gly412=) c.1296T>G (p.Gly432=) | |
19 | g.18786059A>G | CA506117457 | COMP | c.1395T>C (p.Gly465=) c.1236T>C (p.Gly412=) c.1296T>C (p.Gly432=) | |
19 | g.18786059A>T | CA506117459 | COMP | c.1395T>A (p.Gly465=) c.1236T>A (p.Gly412=) c.1296T>A (p.Gly432=) | |
19 | g.18786060C>A | CA404884725 | COMP | c.1394G>T (p.Gly465Val) c.1235G>T (p.Gly412Val) c.1295G>T (p.Gly432Val) | ClinVar dbSNP |
19 | g.18786060C>G | CA404884718 | COMP | c.1394G>C (p.Gly465Ala) c.1235G>C (p.Gly412Ala) c.1295G>C (p.Gly432Ala) | |
19 | g.18786060C>T | CA404884715 | COMP | c.1394G>A (p.Gly465Asp) c.1235G>A (p.Gly412Asp) c.1295G>A (p.Gly432Asp) | |
19 | g.18786061C>A | CA404884728 | COMP | c.1393G>T (p.Gly465Cys) c.1234G>T (p.Gly412Cys) c.1294G>T (p.Gly432Cys) | |
19 | g.18786061C>G | CA404884729 | COMP | c.1393G>C (p.Gly465Arg) c.1234G>C (p.Gly412Arg) c.1294G>C (p.Gly432Arg) | |
19 | g.18786061C>T | CA404884730 | COMP | c.1393G>A (p.Gly465Ser) c.1234G>A (p.Gly412Ser) c.1294G>A (p.Gly432Ser) | ClinVar dbSNP |
19 | g.18786062C>A | CA404884731 | COMP | c.1392G>T (p.Gln464His) c.1233G>T (p.Gln411His) c.1293G>T (p.Gln431His) | |
19 | g.18786062C>G | CA404884733 | COMP | c.1392G>C (p.Gln464His) c.1233G>C (p.Gln411His) c.1293G>C (p.Gln431His) | gnomAD v4 |
19 | g.18786062C>T | CA506117460 | COMP | c.1392G>A (p.Gln464=) c.1233G>A (p.Gln411=) c.1293G>A (p.Gln431=) | gnomAD v4 |
19 | g.18786063T>A | CA404884737 | COMP | c.1391A>T (p.Gln464Leu) c.1232A>T (p.Gln411Leu) c.1292A>T (p.Gln431Leu) | |
19 | g.18786063T>C | CA404884736 | COMP | c.1391A>G (p.Gln464Arg) c.1232A>G (p.Gln411Arg) c.1292A>G (p.Gln431Arg) | |
19 | g.18786063T>G | CA404884735 | COMP | c.1391A>C (p.Gln464Pro) c.1232A>C (p.Gln411Pro) c.1292A>C (p.Gln431Pro) | |
19 | g.18786064G>A | CA404884739 | COMP | c.1390C>T (p.Gln464Ter) c.1231C>T (p.Gln411Ter) c.1291C>T (p.Gln431Ter) | |
19 | g.18786064G>C | CA404884744 | COMP | c.1390C>G (p.Gln464Glu) c.1231C>G (p.Gln411Glu) c.1291C>G (p.Gln431Glu) | |
19 | g.18786064G>T | CA404884748 | COMP | c.1390C>A (p.Gln464Lys) c.1231C>A (p.Gln411Lys) c.1291C>A (p.Gln431Lys) | |
19 | g.18786065G>A | CA506117462 | COMP | c.1389C>T (p.Gly463=) c.1230C>T (p.Gly410=) c.1290C>T (p.Gly430=) | |
19 | g.18786065G>C | CA506117463 | COMP | c.1389C>G (p.Gly463=) c.1230C>G (p.Gly410=) c.1290C>G (p.Gly430=) | |
19 | g.18786065G>T | CA506117464 | COMP | c.1389C>A (p.Gly463=) c.1230C>A (p.Gly410=) c.1290C>A (p.Gly430=) | |
19 | g.18786066C>A | CA306255348 | COMP | c.1388G>T (p.Gly463Val) c.1229G>T (p.Gly410Val) c.1289G>T (p.Gly430Val) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18786066C= | CA2326525549 | COMP | c.1388G= (p.Gly463=) c.1229G= (p.Gly410=) c.1289G= (p.Gly430=) | |
19 | g.18786066C>G | CA9316429 | COMP | c.1388G>C (p.Gly463Ala) c.1229G>C (p.Gly410Ala) c.1289G>C (p.Gly430Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18786066C>T | CA404884761 | COMP | c.1388G>A (p.Gly463Asp) c.1229G>A (p.Gly410Asp) c.1289G>A (p.Gly430Asp) | |
19 | g.18786067C>A | CA404884763 | COMP | c.1387G>T (p.Gly463Cys) c.1228G>T (p.Gly410Cys) c.1288G>T (p.Gly430Cys) | |
19 | g.18786067C>G | CA404884767 | COMP | c.1387G>C (p.Gly463Arg) c.1228G>C (p.Gly410Arg) c.1288G>C (p.Gly430Arg) | |
19 | g.18786067C>T | CA404884765 | COMP | c.1387G>A (p.Gly463Ser) c.1228G>A (p.Gly410Ser) c.1288G>A (p.Gly430Ser) | |
19 | g.18786068A>C | CA404884769 | COMP | c.1386T>G (p.Asp462Glu) c.1227T>G (p.Asp409Glu) c.1287T>G (p.Asp429Glu) | |
19 | g.18786068A>G | CA506117466 | COMP | c.1386T>C (p.Asp462=) c.1227T>C (p.Asp409=) c.1287T>C (p.Asp429=) | |
19 | g.18786068A>T | CA404884770 | COMP | c.1386T>A (p.Asp462Glu) c.1227T>A (p.Asp409Glu) c.1287T>A (p.Asp429Glu) | gnomAD v4 |
19 | g.18786069T>A | CA404884777 | COMP | c.1385A>T (p.Asp462Val) c.1226A>T (p.Asp409Val) c.1286A>T (p.Asp429Val) | |
19 | g.18786069T>C | CA404884783 | COMP | c.1385A>G (p.Asp462Gly) c.1226A>G (p.Asp409Gly) c.1286A>G (p.Asp429Gly) | |
19 | g.18786069T>G | CA404884786 | COMP | c.1385A>C (p.Asp462Ala) c.1226A>C (p.Asp409Ala) c.1286A>C (p.Asp429Ala) | |
19 | g.18786070C>A | CA404884787 | COMP | c.1384G>T (p.Asp462Tyr) c.1225G>T (p.Asp409Tyr) c.1285G>T (p.Asp429Tyr) | ClinVar |
19 | g.18786070C= | CA2326525550 | COMP | c.1384G= (p.Asp462=) c.1225G= (p.Asp409=) c.1285G= (p.Asp429=) | |
19 | g.18786070C>G | CA404884788 | COMP | c.1384G>C (p.Asp462His) c.1225G>C (p.Asp409His) c.1285G>C (p.Asp429His) | gnomAD v4 |
19 | g.18786070C>T | CA306255349 | COMP | c.1384G>A (p.Asp462Asn) c.1225G>A (p.Asp409Asn) c.1285G>A (p.Asp429Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18786071G>A | CA506117468 | COMP | c.1383C>T (p.His461=) c.1224C>T (p.His408=) c.1284C>T (p.His428=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18786071G>C | CA404884799 | COMP | c.1383C>G (p.His461Gln) c.1224C>G (p.His408Gln) c.1284C>G (p.His428Gln) | |
19 | g.18786071G= | CA2326525551 | COMP | c.1383C= (p.His461=) c.1224C= (p.His408=) c.1284C= (p.His428=) | |
19 | g.18786071G>T | CA404884802 | COMP | c.1383C>A (p.His461Gln) c.1224C>A (p.His408Gln) c.1284C>A (p.His428Gln) | gnomAD v4 |
19 | g.18786072T>A | CA404884815 | COMP | c.1382A>T (p.His461Leu) c.1223A>T (p.His408Leu) c.1283A>T (p.His428Leu) | |
19 | g.18786072T>C | CA404884808 | COMP | c.1382A>G (p.His461Arg) c.1223A>G (p.His408Arg) c.1283A>G (p.His428Arg) | dbSNP gnomAD v2 |
19 | g.18786072T>G | CA404884806 | COMP | c.1382A>C (p.His461Pro) c.1223A>C (p.His408Pro) c.1283A>C (p.His428Pro) | ClinVar dbSNP |
19 | g.18786072T= | CA2326525552 | COMP | c.1382A= (p.His461=) c.1223A= (p.His408=) c.1283A= (p.His428=) | |
19 | g.18786073G>A | CA404884817 | COMP | c.1381C>T (p.His461Tyr) c.1222C>T (p.His408Tyr) c.1282C>T (p.His428Tyr) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18786073G>C | CA404884818 | COMP | c.1381C>G (p.His461Asp) c.1222C>G (p.His408Asp) c.1282C>G (p.His428Asp) | |
19 | g.18786073G= | CA2326525553 | COMP | c.1381C= (p.His461=) c.1222C= (p.His408=) c.1282C= (p.His428=) | |
19 | g.18786073G>T | CA404884820 | COMP | c.1381C>A (p.His461Asn) c.1222C>A (p.His408Asn) c.1282C>A (p.His428Asn) | gnomAD v4 |
19 | g.18786074G>A | CA506117473 | COMP | c.1380C>T (p.Asp460=) c.1221C>T (p.Asp407=) c.1281C>T (p.Asp427=) | |
19 | g.18786074G>C | CA404884822 | COMP | c.1380C>G (p.Asp460Glu) c.1221C>G (p.Asp407Glu) c.1281C>G (p.Asp427Glu) | |
19 | g.18786074G>T | CA404884825 | COMP | c.1380C>A (p.Asp460Glu) c.1221C>A (p.Asp407Glu) c.1281C>A (p.Asp427Glu) | |
19 | g.18786075T>A | CA404884828 | COMP | c.1379A>T (p.Asp460Val) c.1220A>T (p.Asp407Val) c.1280A>T (p.Asp427Val) | |
19 | g.18786075T>C | CA404884827 | COMP | c.1379A>G (p.Asp460Gly) c.1220A>G (p.Asp407Gly) c.1280A>G (p.Asp427Gly) | |
19 | g.18786075T>G | CA404884826 | COMP | c.1379A>C (p.Asp460Ala) c.1220A>C (p.Asp407Ala) c.1280A>C (p.Asp427Ala) | |
19 | g.18786076_18786077del | CA2583621973 | COMP | c.1378_1379del (p.Asp460ProfsTer6) c.1219_1220del (p.Asp407ProfsTer6) c.1279_1280del (p.Asp427ProfsTer6) | gnomAD v4 |
19 | g.18786076C>A | CA404884829 | COMP | c.1378G>T (p.Asp460Tyr) c.1219G>T (p.Asp407Tyr) c.1279G>T (p.Asp427Tyr) | |
19 | g.18786076C>G | CA404884830 | COMP | c.1378G>C (p.Asp460His) c.1219G>C (p.Asp407His) c.1279G>C (p.Asp427His) | |
19 | g.18786076C>T | CA404884831 | COMP | c.1378G>A (p.Asp460Asn) c.1219G>A (p.Asp407Asn) c.1279G>A (p.Asp427Asn) | |
19 | g.18786077T>A | CA506117478 | COMP | c.1377A>T (p.Ser459=) c.1218A>T (p.Ser406=) c.1278A>T (p.Ser426=) | |
19 | g.18786077T>C | CA506117477 | COMP | c.1377A>G (p.Ser459=) c.1218A>G (p.Ser406=) c.1278A>G (p.Ser426=) | |
19 | g.18786077T>G | CA506117476 | COMP | c.1377A>C (p.Ser459=) c.1218A>C (p.Ser406=) c.1278A>C (p.Ser426=) | |
19 | g.18786077_18786079del | CA2580096755 | COMP | c.1375_1377del (p.Ser459del) c.1216_1218del (p.Ser406del) c.1276_1278del (p.Ser426del) | ClinVar dbSNP |
19 | g.18786078G>A | CA9316430 | COMP | c.1376C>T (p.Ser459Leu) c.1217C>T (p.Ser406Leu) c.1277C>T (p.Ser426Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18786078G>C | CA404884832 | COMP | c.1376C>G (p.Ser459Ter) c.1217C>G (p.Ser406Ter) c.1277C>G (p.Ser426Ter) | |
19 | g.18786078G= | CA2326525554 | COMP | c.1376C= (p.Ser459=) c.1217C= (p.Ser406=) c.1277C= (p.Ser426=) | |
19 | g.18786078G>T | CA404884833 | COMP | c.1376C>A (p.Ser459Ter) c.1217C>A (p.Ser406Ter) c.1277C>A (p.Ser426Ter) | |
19 | g.18786079A= | CA2326525555 | COMP | c.1375T= (p.Ser459=) c.1216T= (p.Ser406=) c.1276T= (p.Ser426=) | |
19 | g.18786079A>C | CA404884838 | COMP | c.1375T>G (p.Ser459Ala) c.1216T>G (p.Ser406Ala) c.1276T>G (p.Ser426Ala) | |
19 | g.18786079A>G | CA9316431 | COMP | c.1375T>C (p.Ser459Pro) c.1216T>C (p.Ser406Pro) c.1276T>C (p.Ser426Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18786079A>T | CA404884836 | COMP | c.1375T>A (p.Ser459Thr) c.1216T>A (p.Ser406Thr) c.1276T>A (p.Ser426Thr) | |
19 | g.18786080G>A | CA506117479 | COMP | c.1374C>T (p.Asp458=) c.1215C>T (p.Asp405=) c.1275C>T (p.Asp425=) | |
19 | g.18786080G>C | CA404884839 | COMP | c.1374C>G (p.Asp458Glu) c.1215C>G (p.Asp405Glu) c.1275C>G (p.Asp425Glu) | |
19 | g.18786080G>T | CA404884840 | COMP | c.1374C>A (p.Asp458Glu) c.1215C>A (p.Asp405Glu) c.1275C>A (p.Asp425Glu) | |
19 | g.18786080_18786083delinsGTCC | CA2326525556 | COMP | c.1371_1374delinsGGAC (p.Glu457=) c.1212_1215delinsGGAC (p.Glu404=) c.1272_1275delinsGGAC (p.Glu424=) | |
19 | g.18786080_18786081insCCA | CA2583621977 | COMP | c.1373_1374insTGG (p.Asp458_Ser459insGly) c.1214_1215insTGG (p.Asp405_Ser406insGly) c.1274_1275insTGG (p.Asp425_Ser426insGly) | gnomAD v4 |
19 | g.18786081T>A | CA404884843 | COMP | c.1373A>T (p.Asp458Val) c.1214A>T (p.Asp405Val) c.1274A>T (p.Asp425Val) | |
19 | g.18786081T>C | CA404884845 | COMP | c.1373A>G (p.Asp458Gly) c.1214A>G (p.Asp405Gly) c.1274A>G (p.Asp425Gly) | ClinVar |
19 | g.18786081T>G | CA404884847 | COMP | c.1373A>C (p.Asp458Ala) c.1214A>C (p.Asp405Ala) c.1274A>C (p.Asp425Ala) | |
19 | g.18786085_18786087del | CA915952950 | COMP | c.1371_1373del (p.Glu457del) c.1212_1214del (p.Glu404del) c.1272_1274del (p.Glu424del) | ClinVar dbSNP |
19 | g.18786082C>A | CA404884849 | COMP | c.1372G>T (p.Asp458Tyr) c.1213G>T (p.Asp405Tyr) c.1273G>T (p.Asp425Tyr) | ClinVar |
19 | g.18786082C>G | CA404884850 | COMP | c.1372G>C (p.Asp458His) c.1213G>C (p.Asp405His) c.1273G>C (p.Asp425His) | |
19 | g.18786082C>T | CA404884851 | COMP | c.1372G>A (p.Asp458Asn) c.1213G>A (p.Asp405Asn) c.1273G>A (p.Asp425Asn) | gnomAD v4 |
19 | g.18786083C>A | CA404884853 | COMP | c.1371G>T (p.Glu457Asp) c.1212G>T (p.Glu404Asp) c.1272G>T (p.Glu424Asp) | |
19 | g.18786083C>G | CA404884860 | COMP | c.1371G>C (p.Glu457Asp) c.1212G>C (p.Glu404Asp) c.1272G>C (p.Glu424Asp) | |
19 | g.18786083C>T | CA506117482 | COMP | c.1371G>A (p.Glu457=) c.1212G>A (p.Glu404=) c.1272G>A (p.Glu424=) | |
19 | g.18786084T>A | CA404884863 | COMP | c.1370A>T (p.Glu457Val) c.1211A>T (p.Glu404Val) c.1271A>T (p.Glu424Val) | |
19 | g.18786084T>C | CA404884867 | COMP | c.1370A>G (p.Glu457Gly) c.1211A>G (p.Glu404Gly) c.1271A>G (p.Glu424Gly) | gnomAD v4 |
19 | g.18786084T>G | CA404884868 | COMP | c.1370A>C (p.Glu457Ala) c.1211A>C (p.Glu404Ala) c.1271A>C (p.Glu424Ala) |