Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.92719320_92719325dupCA2690686270BICD2c.1328_1333dup (p.Ala444_Glu445insValAla)
c.1409_1414dup (p.Ala471_Glu472insValAla)
 gnomAD v4
9g.92719317A>CCA374038845BICD2c.1328T>G (p.Val443Gly)
c.1409T>G (p.Val470Gly)
9g.92719317A>GCA374038846BICD2c.1328T>C (p.Val443Ala)
c.1409T>C (p.Val470Ala)
9g.92719317A>TCA374038849BICD2c.1328T>A (p.Val443Glu)
c.1409T>A (p.Val470Glu)
9g.92719318C>ACA374038854BICD2c.1327G>T (p.Val443Leu)
c.1408G>T (p.Val470Leu)
9g.92719318C=CA1864362161BICD2c.1327G= (p.Val443=)
c.1408G= (p.Val470=)
9g.92719318C>GCA374038857BICD2c.1327G>C (p.Val443Leu)
c.1408G>C (p.Val470Leu)
9g.92719318C>TCA5126585BICD2c.1327G>A (p.Val443Met)
c.1408G>A (p.Val470Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.92719319A>CCA466343146BICD2c.1326T>G (p.Ala442=)
c.1407T>G (p.Ala469=)
9g.92719319A>GCA466343147BICD2c.1326T>C (p.Ala442=)
c.1407T>C (p.Ala469=)
 gnomAD v4
9g.92719319A>TCA466343148BICD2c.1326T>A (p.Ala442=)
c.1407T>A (p.Ala469=)
9g.92719320G>ACA374038860BICD2c.1325C>T (p.Ala442Val)
c.1406C>T (p.Ala469Val)
9g.92719320G>CCA374038862BICD2c.1325C>G (p.Ala442Gly)
c.1406C>G (p.Ala469Gly)
9g.92719320G>TCA374038863BICD2c.1325C>A (p.Ala442Asp)
c.1406C>A (p.Ala469Asp)
9g.92719321C>ACA374038866BICD2c.1324G>T (p.Ala442Ser)
c.1405G>T (p.Ala469Ser)
 dbSNP gnomAD v4
9g.92719321C>GCA374038867BICD2c.1324G>C (p.Ala442Pro)
c.1405G>C (p.Ala469Pro)
9g.92719321C>TCA374038870BICD2c.1324G>A (p.Ala442Thr)
c.1405G>A (p.Ala469Thr)
 gnomAD v4
9g.92719322C>ACA466343150BICD2c.1323G>T (p.Val441=)
c.1404G>T (p.Val468=)
9g.92719322C=CA1864362168BICD2c.1323G= (p.Val441=)
c.1404G= (p.Val468=)
9g.92719322C>GCA466343151BICD2c.1323G>C (p.Val441=)
c.1404G>C (p.Val468=)
9g.92719322C>TCA466343152BICD2c.1323G>A (p.Val441=)
c.1404G>A (p.Val468=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.92719322_92719323delinsCACA1864362166BICD2c.1322_1323delinsTG (p.Val441=)
c.1403_1404delinsTG (p.Val468=)
9g.92719323delCA5126586BICD2c.1322del (p.Val441GlyfsTer?)
c.1403del (p.Val468GlyfsTer?)
 dbSNP ExAC gnomAD v2
9g.92719323A=CA1864362173BICD2c.1322T= (p.Val441=)
c.1403T= (p.Val468=)
9g.92719323A>CCA374038874BICD2c.1322T>G (p.Val441Gly)
c.1403T>G (p.Val468Gly)
9g.92719323A>GCA5126587BICD2c.1322T>C (p.Val441Ala)
c.1403T>C (p.Val468Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.92719323A>TCA374038885BICD2c.1322T>A (p.Val441Glu)
c.1403T>A (p.Val468Glu)
9g.92719324C>ACA374038888BICD2c.1321G>T (p.Val441Leu)
c.1402G>T (p.Val468Leu)
 dbSNP gnomAD v3 gnomAD v4
9g.92719324C=CA1864362176BICD2c.1321G= (p.Val441=)
c.1402G= (p.Val468=)
9g.92719324C>GCA374038892BICD2c.1321G>C (p.Val441Leu)
c.1402G>C (p.Val468Leu)
9g.92719324C>TCA5126588BICD2c.1321G>A (p.Val441Met)
c.1402G>A (p.Val468Met)
 dbSNP ExAC
9g.92719325A=CA1864362178BICD2c.1320T= (p.His440=)
c.1401T= (p.His467=)
9g.92719325A>CCA374038902BICD2c.1320T>G (p.His440Gln)
c.1401T>G (p.His467Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.92719325A>GCA5126589BICD2c.1320T>C (p.His440=)
c.1401T>C (p.His467=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.92719325A>TCA374038898BICD2c.1320T>A (p.His440Gln)
c.1401T>A (p.His467Gln)
9g.92719326T>ACA374038908BICD2c.1319A>T (p.His440Leu)
c.1400A>T (p.His467Leu)
9g.92719326T>CCA374038910BICD2c.1319A>G (p.His440Arg)
c.1400A>G (p.His467Arg)
 dbSNP gnomAD v3 gnomAD v4
9g.92719326T>GCA374038912BICD2c.1319A>C (p.His440Pro)
c.1400A>C (p.His467Pro)
9g.92719326T=CA1864362186BICD2c.1319A= (p.His440=)
c.1400A= (p.His467=)
9g.92719327G>ACA374038914BICD2c.1318C>T (p.His440Tyr)
c.1399C>T (p.His467Tyr)
9g.92719327G>CCA374038916BICD2c.1318C>G (p.His440Asp)
c.1399C>G (p.His467Asp)
 gnomAD v4
9g.92719327G>TCA374038923BICD2c.1318C>A (p.His440Asn)
c.1399C>A (p.His467Asn)
9g.92719328G>ACA466343158BICD2c.1317C>T (p.Tyr439=)
c.1398C>T (p.Tyr466=)
9g.92719328G>CCA374038927BICD2c.1317C>G (p.Tyr439Ter)
c.1398C>G (p.Tyr466Ter)
9g.92719328G>TCA374038928BICD2c.1317C>A (p.Tyr439Ter)
c.1398C>A (p.Tyr466Ter)
9g.92719329T>ACA374038930BICD2c.1316A>T (p.Tyr439Phe)
c.1397A>T (p.Tyr466Phe)
9g.92719329T>CCA374038932BICD2c.1316A>G (p.Tyr439Cys)
c.1397A>G (p.Tyr466Cys)
9g.92719329T>GCA374038935BICD2c.1316A>C (p.Tyr439Ser)
c.1397A>C (p.Tyr466Ser)
 dbSNP
9g.92719329T=CA1864362189BICD2c.1316A= (p.Tyr439=)
c.1397A= (p.Tyr466=)
9g.92719330A>CCA374038937BICD2c.1315T>G (p.Tyr439Asp)
c.1396T>G (p.Tyr466Asp)
9g.92719330A>GCA374038940BICD2c.1315T>C (p.Tyr439His)
c.1396T>C (p.Tyr466His)
9g.92719330A>TCA374038942BICD2c.1315T>A (p.Tyr439Asn)
c.1396T>A (p.Tyr466Asn)
9g.92719331C>ACA374038946BICD2c.1314G>T (p.Lys438Asn)
c.1395G>T (p.Lys465Asn)
9g.92719331C=CA1864362192BICD2c.1314G= (p.Lys438=)
c.1395G= (p.Lys465=)
9g.92719331C>GCA374038949BICD2c.1314G>C (p.Lys438Asn)
c.1395G>C (p.Lys465Asn)
9g.92719331C>TCA196340928BICD2c.1314G>A (p.Lys438=)
c.1395G>A (p.Lys465=)
 dbSNP gnomAD v4
9g.92719332T>ACA374038953BICD2c.1313A>T (p.Lys438Met)
c.1394A>T (p.Lys465Met)
9g.92719332T>CCA374038960BICD2c.1313A>G (p.Lys438Arg)
c.1394A>G (p.Lys465Arg)
9g.92719332T>GCA374038958BICD2c.1313A>C (p.Lys438Thr)
c.1394A>C (p.Lys465Thr)
9g.92719333T>ACA374038962BICD2c.1312A>T (p.Lys438Ter)
c.1393A>T (p.Lys465Ter)
9g.92719333T>CCA374038965BICD2c.1312A>G (p.Lys438Glu)
c.1393A>G (p.Lys465Glu)
9g.92719333T>GCA374038966BICD2c.1312A>C (p.Lys438Gln)
c.1393A>C (p.Lys465Gln)
 ClinVar dbSNP
9g.92719333T=CA1864362195BICD2c.1312A= (p.Lys438=)
c.1393A= (p.Lys465=)
9g.92719334G>ACA466343163BICD2c.1311C>T (p.Cys437=)
c.1392C>T (p.Cys464=)
9g.92719334G>CCA374038969BICD2c.1311C>G (p.Cys437Trp)
c.1392C>G (p.Cys464Trp)
9g.92719334G>TCA374038971BICD2c.1311C>A (p.Cys437Ter)
c.1392C>A (p.Cys464Ter)
9g.92719335C>ACA374038974BICD2c.1310G>T (p.Cys437Phe)
c.1391G>T (p.Cys464Phe)
9g.92719335C>GCA374038973BICD2c.1310G>C (p.Cys437Ser)
c.1391G>C (p.Cys464Ser)
 ClinVar
9g.92719335C>TCA374038972BICD2c.1310G>A (p.Cys437Tyr)
c.1391G>A (p.Cys464Tyr)
9g.92719336A>CCA374038975BICD2c.1309T>G (p.Cys437Gly)
c.1390T>G (p.Cys464Gly)
9g.92719336A>GCA374038976BICD2c.1309T>C (p.Cys437Arg)
c.1390T>C (p.Cys464Arg)
9g.92719336A>TCA374038977BICD2c.1309T>A (p.Cys437Ser)
c.1390T>A (p.Cys464Ser)
9g.92719337G>ACA466343171BICD2c.1308C>T (p.Ala436=)
c.1389C>T (p.Ala463=)
 ClinVar
9g.92719337G>CCA466343172BICD2c.1308C>G (p.Ala436=)
c.1389C>G (p.Ala463=)
9g.92719337G>TCA466343173BICD2c.1308C>A (p.Ala436=)
c.1389C>A (p.Ala463=)
9g.92719338G>ACA374038978BICD2c.1307C>T (p.Ala436Val)
c.1388C>T (p.Ala463Val)
9g.92719338G>CCA374038979BICD2c.1307C>G (p.Ala436Gly)
c.1388C>G (p.Ala463Gly)
9g.92719338G>TCA374038980BICD2c.1307C>A (p.Ala436Asp)
c.1388C>A (p.Ala463Asp)
9g.92719339C>ACA374038982BICD2c.1306G>T (p.Ala436Ser)
c.1387G>T (p.Ala463Ser)
9g.92719339C=CA1864362200BICD2c.1306G= (p.Ala436=)
c.1387G= (p.Ala463=)
9g.92719339C>GCA374038984BICD2c.1306G>C (p.Ala436Pro)
c.1387G>C (p.Ala463Pro)
9g.92719339C>TCA196340929BICD2c.1306G>A (p.Ala436Thr)
c.1387G>A (p.Ala463Thr)
 dbSNP gnomAD v4
9g.92719340C>ACA374038987BICD2c.1305G>T (p.Leu435Phe)
c.1386G>T (p.Leu462Phe)
9g.92719340C>GCA374038989BICD2c.1305G>C (p.Leu435Phe)
c.1386G>C (p.Leu462Phe)
9g.92719340C>TCA466343179BICD2c.1305G>A (p.Leu435=)
c.1386G>A (p.Leu462=)
 COSMIC COSMIC
9g.92719341A>CCA374038991BICD2c.1304T>G (p.Leu435Trp)
c.1385T>G (p.Leu462Trp)
9g.92719341A>GCA374038993BICD2c.1304T>C (p.Leu435Ser)
c.1385T>C (p.Leu462Ser)
9g.92719341A>TCA374038994BICD2c.1304T>A (p.Leu435Ter)
c.1385T>A (p.Leu462Ter)
9g.92719342A>CCA374038996BICD2c.1303T>G (p.Leu435Val)
c.1384T>G (p.Leu462Val)
9g.92719342A>GCA466343181BICD2c.1303T>C (p.Leu435=)
c.1384T>C (p.Leu462=)
9g.92719342A>TCA374038998BICD2c.1303T>A (p.Leu435Met)
c.1384T>A (p.Leu462Met)
9g.92719343G>ACA466343182BICD2c.1302C>T (p.Ile434=)
c.1383C>T (p.Ile461=)
9g.92719343G>CCA374038999BICD2c.1302C>G (p.Ile434Met)
c.1383C>G (p.Ile461Met)
9g.92719343G>TCA466343183BICD2c.1302C>A (p.Ile434=)
c.1383C>A (p.Ile461=)
9g.92719344A>CCA374039001BICD2c.1301T>G (p.Ile434Ser)
c.1382T>G (p.Ile461Ser)
9g.92719344A>GCA374039003BICD2c.1301T>C (p.Ile434Thr)
c.1382T>C (p.Ile461Thr)
9g.92719344A>TCA374039014BICD2c.1301T>A (p.Ile434Asn)
c.1382T>A (p.Ile461Asn)
9g.92719345T>ACA374039017BICD2c.1300A>T (p.Ile434Phe)
c.1381A>T (p.Ile461Phe)
9g.92719345T>CCA374039021BICD2c.1300A>G (p.Ile434Val)
c.1381A>G (p.Ile461Val)
 dbSNP gnomAD v2 gnomAD v4
9g.92719345T>GCA374039019BICD2c.1300A>C (p.Ile434Leu)
c.1381A>C (p.Ile461Leu)
9g.92719345T=CA1864362204BICD2c.1300A= (p.Ile434=)
c.1381A= (p.Ile461=)
9g.92719346C>ACA374039022BICD2c.1299G>T (p.Glu433Asp)
c.1380G>T (p.Glu460Asp)
9g.92719346C>GCA374039023BICD2c.1299G>C (p.Glu433Asp)
c.1380G>C (p.Glu460Asp)
9g.92719346C>TCA466343043BICD2c.1299G>A (p.Glu433=)
c.1380G>A (p.Glu460=)
 ClinVar
9g.92719347T>ACA374039027BICD2c.1298A>T (p.Glu433Val)
c.1379A>T (p.Glu460Val)
9g.92719347T>CCA374039030BICD2c.1298A>G (p.Glu433Gly)
c.1379A>G (p.Glu460Gly)
9g.92719347T>GCA374039032BICD2c.1298A>C (p.Glu433Ala)
c.1379A>C (p.Glu460Ala)
9g.92719348C>ACA374039034BICD2c.1297G>T (p.Glu433Ter)
c.1378G>T (p.Glu460Ter)
9g.92719348C>GCA374039035BICD2c.1297G>C (p.Glu433Gln)
c.1378G>C (p.Glu460Gln)
9g.92719348C>TCA374039036BICD2c.1297G>A (p.Glu433Lys)
c.1378G>A (p.Glu460Lys)
9g.92719349A>CCA466343045BICD2c.1296T>G (p.Pro432=)
c.1377T>G (p.Pro459=)
9g.92719349A>GCA466343046BICD2c.1296T>C (p.Pro432=)
c.1377T>C (p.Pro459=)
9g.92719349A>TCA466343047BICD2c.1296T>A (p.Pro432=)
c.1377T>A (p.Pro459=)
9g.92719350G>ACA374039037BICD2c.1295C>T (p.Pro432Leu)
c.1376C>T (p.Pro459Leu)
 ClinVar gnomAD v4
9g.92719350G>CCA374039038BICD2c.1295C>G (p.Pro432Arg)
c.1376C>G (p.Pro459Arg)
9g.92719350G>TCA374039040BICD2c.1295C>A (p.Pro432His)
c.1376C>A (p.Pro459His)
9g.92719351G>ACA374039044BICD2c.1294C>T (p.Pro432Ser)
c.1375C>T (p.Pro459Ser)
9g.92719351G>CCA374039043BICD2c.1294C>G (p.Pro432Ala)
c.1375C>G (p.Pro459Ala)
9g.92719351G>TCA374039042BICD2c.1294C>A (p.Pro432Thr)
c.1375C>A (p.Pro459Thr)
 ClinVar
9g.92719352C>ACA466343051BICD2c.1293G>T (p.Gly431=)
c.1374G>T (p.Gly458=)
9g.92719352C>GCA466343052BICD2c.1293G>C (p.Gly431=)
c.1374G>C (p.Gly458=)
9g.92719352C>TCA466343053BICD2c.1293G>A (p.Gly431=)
c.1374G>A (p.Gly458=)
9g.92719353C>ACA374039045BICD2c.1292G>T (p.Gly431Val)
c.1373G>T (p.Gly458Val)
 dbSNP gnomAD v3 gnomAD v4
9g.92719353C=CA1864362206BICD2c.1292G= (p.Gly431=)
c.1373G= (p.Gly458=)
9g.92719353C>GCA374039046BICD2c.1292G>C (p.Gly431Ala)
c.1373G>C (p.Gly458Ala)
9g.92719353C>TCA374039047BICD2c.1292G>A (p.Gly431Glu)
c.1373G>A (p.Gly458Glu)
9g.92719354C>ACA374039049BICD2c.1291G>T (p.Gly431Trp)
c.1372G>T (p.Gly458Trp)
9g.92719354C=CA1864362209BICD2c.1291G= (p.Gly431=)
c.1372G= (p.Gly458=)
9g.92719354C>GCA374039051BICD2c.1291G>C (p.Gly431Arg)
c.1372G>C (p.Gly458Arg)
 gnomAD v4
9g.92719354C>TCA5126590BICD2c.1291G>A (p.Gly431Arg)
c.1372G>A (p.Gly458Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.92719355G>ACA5126591BICD2c.1290C>T (p.Asn430=)
c.1371C>T (p.Asn457=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.92719355G>CCA374039058BICD2c.1290C>G (p.Asn430Lys)
c.1371C>G (p.Asn457Lys)
9g.92719355G=CA1864362212BICD2c.1290C= (p.Asn430=)
c.1371C= (p.Asn457=)
9g.92719355G>TCA374039061BICD2c.1290C>A (p.Asn430Lys)
c.1371C>A (p.Asn457Lys)
 gnomAD v4
9g.92719356T>ACA374039063BICD2c.1289A>T (p.Asn430Ile)
c.1370A>T (p.Asn457Ile)
 COSMIC COSMIC
9g.92719356T>CCA374039064BICD2c.1289A>G (p.Asn430Ser)
c.1370A>G (p.Asn457Ser)
 dbSNP gnomAD v3 gnomAD v4
9g.92719356T>GCA374039066BICD2c.1289A>C (p.Asn430Thr)
c.1370A>C (p.Asn457Thr)
9g.92719356T=CA1864362217BICD2c.1289A= (p.Asn430=)
c.1370A= (p.Asn457=)
9g.92719357T>ACA374039080BICD2c.1288A>T (p.Asn430Tyr)
c.1369A>T (p.Asn457Tyr)
9g.92719357T>CCA374039085BICD2c.1288A>G (p.Asn430Asp)
c.1369A>G (p.Asn457Asp)
9g.92719357T>GCA374039077BICD2c.1288A>C (p.Asn430His)
c.1369A>C (p.Asn457His)
9g.92719358delCA2690686271BICD2c.1287del (p.Asn430ThrfsTer?)
c.1368del (p.Asn457ThrfsTer?)
 gnomAD v4
9g.92719358G>ACA466343061BICD2c.1287C>T (p.Ile429=)
c.1368C>T (p.Ile456=)
 dbSNP
9g.92719358G>CCA374039089BICD2c.1287C>G (p.Ile429Met)
c.1368C>G (p.Ile456Met)
9g.92719358G=CA1864362220BICD2c.1287C= (p.Ile429=)
c.1368C= (p.Ile456=)
9g.92719358G>TCA466343063BICD2c.1287C>A (p.Ile429=)
c.1368C>A (p.Ile456=)
9g.92719359A>CCA374039091BICD2c.1286T>G (p.Ile429Ser)
c.1367T>G (p.Ile456Ser)
9g.92719359A>GCA374039095BICD2c.1286T>C (p.Ile429Thr)
c.1367T>C (p.Ile456Thr)
9g.92719359A>TCA374039097BICD2c.1286T>A (p.Ile429Asn)
c.1367T>A (p.Ile456Asn)
9g.92719360T>ACA374039100BICD2c.1285A>T (p.Ile429Phe)
c.1366A>T (p.Ile456Phe)
9g.92719360T>CCA374039107BICD2c.1285A>G (p.Ile429Val)
c.1366A>G (p.Ile456Val)
 gnomAD v4
9g.92719360T>GCA374039112BICD2c.1285A>C (p.Ile429Leu)
c.1366A>C (p.Ile456Leu)
 gnomAD v4
9g.92719361G>ACA466343065BICD2c.1284C>T (p.Asp428=)
c.1365C>T (p.Asp455=)
9g.92719361G>CCA374039119BICD2c.1284C>G (p.Asp428Glu)
c.1365C>G (p.Asp455Glu)
9g.92719361G>TCA374039115BICD2c.1284C>A (p.Asp428Glu)
c.1365C>A (p.Asp455Glu)
9g.92719362T>ACA374039120BICD2c.1283A>T (p.Asp428Val)
c.1364A>T (p.Asp455Val)
9g.92719362T>CCA374039122BICD2c.1283A>G (p.Asp428Gly)
c.1364A>G (p.Asp455Gly)
 gnomAD v4
9g.92719362T>GCA374039128BICD2c.1283A>C (p.Asp428Ala)
c.1364A>C (p.Asp455Ala)
9g.92719363C>ACA374039131BICD2c.1282G>T (p.Asp428Tyr)
c.1363G>T (p.Asp455Tyr)
 gnomAD v4
9g.92719363C>GCA374039133BICD2c.1282G>C (p.Asp428His)
c.1363G>C (p.Asp455His)
9g.92719363C>TCA374039136BICD2c.1282G>A (p.Asp428Asn)
c.1363G>A (p.Asp455Asn)
9g.92719364C>ACA466343069BICD2c.1281G>T (p.Val427=)
c.1362G>T (p.Val454=)
9g.92719364C=CA1864362222BICD2c.1281G= (p.Val427=)
c.1362G= (p.Val454=)
9g.92719364C>GCA466343071BICD2c.1281G>C (p.Val427=)
c.1362G>C (p.Val454=)
9g.92719364C>TCA466343073BICD2c.1281G>A (p.Val427=)
c.1362G>A (p.Val454=)
 dbSNP gnomAD v4
9g.92719365A>CCA374039138BICD2c.1280T>G (p.Val427Gly)
c.1361T>G (p.Val454Gly)
9g.92719365A>GCA374039142BICD2c.1280T>C (p.Val427Ala)
c.1361T>C (p.Val454Ala)
9g.92719365A>TCA374039140BICD2c.1280T>A (p.Val427Glu)
c.1361T>A (p.Val454Glu)
9g.92719366C>ACA374039144BICD2c.1279G>T (p.Val427Leu)
c.1360G>T (p.Val454Leu)
9g.92719366C>GCA374039145BICD2c.1279G>C (p.Val427Leu)
c.1360G>C (p.Val454Leu)
9g.92719366C>TCA374039146BICD2c.1279G>A (p.Val427Met)
c.1360G>A (p.Val454Met)
9g.92719367C>ACA374039148BICD2c.1278G>T (p.Glu426Asp)
c.1359G>T (p.Glu453Asp)
9g.92719367C>GCA374039149BICD2c.1278G>C (p.Glu426Asp)
c.1359G>C (p.Glu453Asp)
 gnomAD v4
9g.92719367C>TCA466343076BICD2c.1278G>A (p.Glu426=)
c.1359G>A (p.Glu453=)
9g.92719368T>ACA374039159BICD2c.1277A>T (p.Glu426Val)
c.1358A>T (p.Glu453Val)
9g.92719368T>CCA374039161BICD2c.1277A>G (p.Glu426Gly)
c.1358A>G (p.Glu453Gly)
9g.92719368T>GCA374039163BICD2c.1277A>C (p.Glu426Ala)
c.1358A>C (p.Glu453Ala)
9g.92719369C>ACA374039165BICD2c.1276G>T (p.Glu426Ter)
c.1357G>T (p.Glu453Ter)
9g.92719369C=CA1864362227BICD2c.1276G= (p.Glu426=)
c.1357G= (p.Glu453=)
9g.92719369C>GCA5126593BICD2c.1276G>C (p.Glu426Gln)
c.1357G>C (p.Glu453Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.92719369C>TCA5126592BICD2c.1276G>A (p.Glu426Lys)
c.1357G>A (p.Glu453Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.92719370G>ACA196340956BICD2c.1275C>T (p.Tyr425=)
c.1356C>T (p.Tyr452=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.92719370G>CCA374039182BICD2c.1275C>G (p.Tyr425Ter)
c.1356C>G (p.Tyr452Ter)
9g.92719370G=CA1864362235BICD2c.1275C= (p.Tyr425=)
c.1356C= (p.Tyr452=)
9g.92719370G>TCA374039179BICD2c.1275C>A (p.Tyr425Ter)
c.1356C>A (p.Tyr452Ter)
9g.92719371T>ACA374039192BICD2c.1274A>T (p.Tyr425Phe)
c.1355A>T (p.Tyr452Phe)
9g.92719371T>CCA374039194BICD2c.1274A>G (p.Tyr425Cys)
c.1355A>G (p.Tyr452Cys)
 gnomAD v4
9g.92719371T>GCA374039196BICD2c.1274A>C (p.Tyr425Ser)
c.1355A>C (p.Tyr452Ser)
9g.92719372A=CA1864362240BICD2c.1273T= (p.Tyr425=)
c.1354T= (p.Tyr452=)
9g.92719372A>CCA374039198BICD2c.1273T>G (p.Tyr425Asp)
c.1354T>G (p.Tyr452Asp)
9g.92719372A>GCA374039204BICD2c.1273T>C (p.Tyr425His)
c.1354T>C (p.Tyr452His)
 ClinVar dbSNP gnomAD v4
9g.92719372A>TCA374039206BICD2c.1273T>A (p.Tyr425Asn)
c.1354T>A (p.Tyr452Asn)
9g.92719373G>ACA466343082BICD2c.1272C>T (p.Tyr424=)
c.1353C>T (p.Tyr451=)
 gnomAD v4
9g.92719373G>CCA374039208BICD2c.1272C>G (p.Tyr424Ter)
c.1353C>G (p.Tyr451Ter)
9g.92719373G>TCA374039211BICD2c.1272C>A (p.Tyr424Ter)
c.1353C>A (p.Tyr451Ter)
9g.92719374T>ACA374039214BICD2c.1271A>T (p.Tyr424Phe)
c.1352A>T (p.Tyr451Phe)
9g.92719374T>CCA374039217BICD2c.1271A>G (p.Tyr424Cys)
c.1352A>G (p.Tyr451Cys)
9g.92719374T>GCA374039220BICD2c.1271A>C (p.Tyr424Ser)
c.1352A>C (p.Tyr451Ser)
9g.92719375A=CA1864362243BICD2c.1270T= (p.Tyr424=)
c.1351T= (p.Tyr451=)
9g.92719375A>CCA374039223BICD2c.1270T>G (p.Tyr424Asp)
c.1351T>G (p.Tyr451Asp)
9g.92719375A>GCA5126594BICD2c.1270T>C (p.Tyr424His)
c.1351T>C (p.Tyr451His)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.92719375A>TCA374039224BICD2c.1270T>A (p.Tyr424Asn)
c.1351T>A (p.Tyr451Asn)
9g.92719376G>ACA466343095BICD2c.1269C>T (p.Asp423=)
c.1350C>T (p.Asp450=)
9g.92719376G>CCA374039227BICD2c.1269C>G (p.Asp423Glu)
c.1350C>G (p.Asp450Glu)
9g.92719376G>TCA374039225BICD2c.1269C>A (p.Asp423Glu)
c.1350C>A (p.Asp450Glu)
9g.92719377T>ACA374039230BICD2c.1268A>T (p.Asp423Val)
c.1349A>T (p.Asp450Val)
9g.92719377T>CCA374039231BICD2c.1268A>G (p.Asp423Gly)
c.1349A>G (p.Asp450Gly)
 gnomAD v4
9g.92719377T>GCA374039232BICD2c.1268A>C (p.Asp423Ala)
c.1349A>C (p.Asp450Ala)
9g.92719378C>ACA374039234BICD2c.1267G>T (p.Asp423Tyr)
c.1348G>T (p.Asp450Tyr)
9g.92719378C>GCA374039236BICD2c.1267G>C (p.Asp423His)
c.1348G>C (p.Asp450His)
9g.92719378C>TCA374039238BICD2c.1267G>A (p.Asp423Asn)
c.1348G>A (p.Asp450Asn)
9g.92719379C>ACA466343100BICD2c.1266G>T (p.Gly422=)
c.1347G>T (p.Gly449=)
9g.92719379C=CA1864362246BICD2c.1266G= (p.Gly422=)
c.1347G= (p.Gly449=)
9g.92719379C>GCA466343101BICD2c.1266G>C (p.Gly422=)
c.1347G>C (p.Gly449=)
 dbSNP gnomAD v3 gnomAD v4
9g.92719379C>TCA466343102BICD2c.1266G>A (p.Gly422=)
c.1347G>A (p.Gly449=)
9g.92719380C>ACA374039246BICD2c.1265G>T (p.Gly422Val)
c.1346G>T (p.Gly449Val)
9g.92719380C>GCA374039241BICD2c.1265G>C (p.Gly422Ala)
c.1346G>C (p.Gly449Ala)
9g.92719380C>TCA374039242BICD2c.1265G>A (p.Gly422Glu)
c.1346G>A (p.Gly449Glu)
 ClinVar dbSNP
9g.92719381C>ACA374039249BICD2c.1264G>T (p.Gly422Trp)
c.1345G>T (p.Gly449Trp)
9g.92719381C>GCA374039250BICD2c.1264G>C (p.Gly422Arg)
c.1345G>C (p.Gly449Arg)
9g.92719381C>TCA374039252BICD2c.1264G>A (p.Gly422Arg)
c.1345G>A (p.Gly449Arg)
9g.92719382A>CCA374039254BICD2c.1263T>G (p.Asp421Glu)
c.1344T>G (p.Asp448Glu)
9g.92719382A>GCA466343108BICD2c.1263T>C (p.Asp421=)
c.1344T>C (p.Asp448=)
9g.92719382A>TCA374039258BICD2c.1263T>A (p.Asp421Glu)
c.1344T>A (p.Asp448Glu)
9g.92719383T>ACA374039265BICD2c.1262A>T (p.Asp421Val)
c.1343A>T (p.Asp448Val)
 ClinVar gnomAD v4
9g.92719383T>CCA374039262BICD2c.1262A>G (p.Asp421Gly)
c.1343A>G (p.Asp448Gly)
9g.92719383T>GCA374039261BICD2c.1262A>C (p.Asp421Ala)
c.1343A>C (p.Asp448Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.92719383T=CA1864362248BICD2c.1262A= (p.Asp421=)
c.1343A= (p.Asp448=)
9g.92719384C>ACA374039266BICD2c.1261G>T (p.Asp421Tyr)
c.1342G>T (p.Asp448Tyr)
9g.92719384C>GCA374039268BICD2c.1261G>C (p.Asp421His)
c.1342G>C (p.Asp448His)
9g.92719384C>TCA374039267BICD2c.1261G>A (p.Asp421Asn)
c.1342G>A (p.Asp448Asn)
9g.92719385C>ACA374039269BICD2c.1260G>T (p.Glu420Asp)
c.1341G>T (p.Glu447Asp)
9g.92719385C>GCA374039270BICD2c.1260G>C (p.Glu420Asp)
c.1341G>C (p.Glu447Asp)
9g.92719385C>TCA466343114BICD2c.1260G>A (p.Glu420=)
c.1341G>A (p.Glu447=)
9g.92719386T>ACA374039271BICD2c.1259A>T (p.Glu420Val)
c.1340A>T (p.Glu447Val)
9g.92719386T>CCA374039274BICD2c.1259A>G (p.Glu420Gly)
c.1340A>G (p.Glu447Gly)
9g.92719386T>GCA5126595BICD2c.1259A>C (p.Glu420Ala)
c.1340A>C (p.Glu447Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.92719386T=CA1864362253BICD2c.1259A= (p.Glu420=)
c.1340A= (p.Glu447=)
9g.92719387C>ACA374039275BICD2c.1258G>T (p.Glu420Ter)
c.1339G>T (p.Glu447Ter)
9g.92719387C>GCA374039286BICD2c.1258G>C (p.Glu420Gln)
c.1339G>C (p.Glu447Gln)
9g.92719387C>TCA374039279BICD2c.1258G>A (p.Glu420Lys)
c.1339G>A (p.Glu447Lys)
9g.92719388A=CA1864362259BICD2c.1257T= (p.His419=)
c.1338T= (p.His446=)
9g.92719388A>CCA196340968BICD2c.1257T>G (p.His419Gln)
c.1338T>G (p.His446Gln)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.92719388A>GCA5126596BICD2c.1257T>C (p.His419=)
c.1338T>C (p.His446=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.92719388A>TCA374039294BICD2c.1257T>A (p.His419Gln)
c.1338T>A (p.His446Gln)
9g.92719388_92719389delCA1126797438BICD2c.1256_1257del (p.His419ArgfsTer14)
c.1337_1338del (p.His446ArgfsTer14)
 gnomAD v3 gnomAD v4
9g.92719389T>ACA374039300BICD2c.1256A>T (p.His419Leu)
c.1337A>T (p.His446Leu)
9g.92719389T>CCA374039302BICD2c.1256A>G (p.His419Arg)
c.1337A>G (p.His446Arg)
 dbSNP gnomAD v3 gnomAD v4
9g.92719389T>GCA374039305BICD2c.1256A>C (p.His419Pro)
c.1337A>C (p.His446Pro)
9g.92719389T=CA1864362266BICD2c.1256A= (p.His419=)
c.1337A= (p.His446=)
9g.92719390G>ACA374039307BICD2c.1255C>T (p.His419Tyr)
c.1336C>T (p.His446Tyr)
 gnomAD v4
9g.92719390G>CCA374039312BICD2c.1255C>G (p.His419Asp)
c.1336C>G (p.His446Asp)
 dbSNP
9g.92719390G=CA1864362269BICD2c.1255C= (p.His419=)
c.1336C= (p.His446=)
9g.92719390G>TCA374039313BICD2c.1255C>A (p.His419Asn)
c.1336C>A (p.His446Asn)
9g.92719391G>ACA5126597BICD2c.1254C>T (p.Ser418=)
c.1335C>T (p.Ser445=)
 dbSNP ExAC gnomAD v2
9g.92719391G>CCA374039316BICD2c.1254C>G (p.Ser418Arg)
c.1335C>G (p.Ser445Arg)
9g.92719391G=CA1864362273BICD2c.1254C= (p.Ser418=)
c.1335C= (p.Ser445=)
9g.92719391G>TCA374039315BICD2c.1254C>A (p.Ser418Arg)
c.1335C>A (p.Ser445Arg)
9g.92719392C>ACA374039326BICD2c.1253G>T (p.Ser418Ile)
c.1334G>T (p.Ser445Ile)
9g.92719392C>GCA374039328BICD2c.1253G>C (p.Ser418Thr)
c.1334G>C (p.Ser445Thr)
9g.92719392C>TCA374039331BICD2c.1253G>A (p.Ser418Asn)
c.1334G>A (p.Ser445Asn)
 gnomAD v4
9g.92719393T>ACA374039332BICD2c.1252A>T (p.Ser418Cys)
c.1333A>T (p.Ser445Cys)
9g.92719393T>CCA374039333BICD2c.1252A>G (p.Ser418Gly)
c.1333A>G (p.Ser445Gly)
 dbSNP
9g.92719393T>GCA374039334BICD2c.1252A>C (p.Ser418Arg)
c.1333A>C (p.Ser445Arg)
9g.92719393T=CA1864362275BICD2c.1252A= (p.Ser418=)
c.1333A= (p.Ser445=)
9g.92719394G>ACA196340987BICD2c.1251C>T (p.Asp417=)
c.1332C>T (p.Asp444=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.92719394G>CCA374039335BICD2c.1251C>G (p.Asp417Glu)
c.1332C>G (p.Asp444Glu)
 dbSNP gnomAD v2 gnomAD v4
9g.92719394G=CA1864362278BICD2c.1251C= (p.Asp417=)
c.1332C= (p.Asp444=)
9g.92719394G>TCA374039341BICD2c.1251C>A (p.Asp417Glu)
c.1332C>A (p.Asp444Glu)
9g.92719395T>ACA374039348BICD2c.1250A>T (p.Asp417Val)
c.1331A>T (p.Asp444Val)
9g.92719395T>CCA5126598BICD2c.1250A>G (p.Asp417Gly)
c.1331A>G (p.Asp444Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.92719395T>GCA374039356BICD2c.1250A>C (p.Asp417Ala)
c.1331A>C (p.Asp444Ala)
 dbSNP
9g.92719395T=CA1864362284BICD2c.1250A= (p.Asp417=)
c.1331A= (p.Asp444=)
9g.92719396C>ACA374039377BICD2c.1249G>T (p.Asp417Tyr)
c.1330G>T (p.Asp444Tyr)
 gnomAD v4
9g.92719396C=CA1864362294BICD2c.1249G= (p.Asp417=)
c.1330G= (p.Asp444=)
9g.92719396C>GCA374039380BICD2c.1249G>C (p.Asp417His)
c.1330G>C (p.Asp444His)
9g.92719396C>TCA374039372BICD2c.1249G>A (p.Asp417Asn)
c.1330G>A (p.Asp444Asn)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.92719397A>CCA466343133BICD2c.1248T>G (p.Arg416=)
c.1329T>G (p.Arg443=)
9g.92719397A>GCA466343132BICD2c.1248T>C (p.Arg416=)
c.1329T>C (p.Arg443=)
9g.92719397A>TCA466343131BICD2c.1248T>A (p.Arg416=)
c.1329T>A (p.Arg443=)
9g.92719398C>ACA374039384BICD2c.1247G>T (p.Arg416Leu)
c.1328G>T (p.Arg443Leu)
9g.92719398C=CA1864362297BICD2c.1247G= (p.Arg416=)
c.1328G= (p.Arg443=)
9g.92719398C>GCA374039386BICD2c.1247G>C (p.Arg416Pro)
c.1328G>C (p.Arg443Pro)
9g.92719398C>TCA374039394BICD2c.1247G>A (p.Arg416His)
c.1328G>A (p.Arg443His)
 dbSNP gnomAD v2 gnomAD v4
9g.92719399G>ACA374039399BICD2c.1246C>T (p.Arg416Cys)
c.1327C>T (p.Arg443Cys)
 ClinVar dbSNP gnomAD v4
9g.92719399G>CCA374039402BICD2c.1246C>G (p.Arg416Gly)
c.1327C>G (p.Arg443Gly)
9g.92719399G=CA1864362301BICD2c.1246C= (p.Arg416=)
c.1327C= (p.Arg443=)
9g.92719399G>TCA374039404BICD2c.1246C>A (p.Arg416Ser)
c.1327C>A (p.Arg443Ser)
9g.92719400G>ACA466343136BICD2c.1245C>T (p.Asp415=)
c.1326C>T (p.Asp442=)
9g.92719400G>CCA374039409BICD2c.1245C>G (p.Asp415Glu)
c.1326C>G (p.Asp442Glu)
9g.92719400G>TCA374039410BICD2c.1245C>A (p.Asp415Glu)
c.1326C>A (p.Asp442Glu)
9g.92719401T>ACA374039411BICD2c.1244A>T (p.Asp415Val)
c.1325A>T (p.Asp442Val)
9g.92719401T>CCA374039412BICD2c.1244A>G (p.Asp415Gly)
c.1325A>G (p.Asp442Gly)
 dbSNP
9g.92719401T>GCA374039416BICD2c.1244A>C (p.Asp415Ala)
c.1325A>C (p.Asp442Ala)
 dbSNP
9g.92719401T=CA1864362304BICD2c.1244A= (p.Asp415=)
c.1325A= (p.Asp442=)
9g.92719402C>ACA374039424BICD2c.1243G>T (p.Asp415Tyr)
c.1324G>T (p.Asp442Tyr)
9g.92719402C>GCA374039428BICD2c.1243G>C (p.Asp415His)
c.1324G>C (p.Asp442His)
9g.92719402C>TCA374039420BICD2c.1243G>A (p.Asp415Asn)
c.1324G>A (p.Asp442Asn)
9g.92719402_92719405delinsCCTTCA1864362306BICD2c.1240_1243delinsAAGG (p.Lys414=)
c.1321_1324delinsAAGG (p.Lys441=)
9g.92719403C>ACA374039441BICD2c.1242G>T (p.Lys414Asn)
c.1323G>T (p.Lys441Asn)
9g.92719403C>GCA374039448BICD2c.1242G>C (p.Lys414Asn)
c.1323G>C (p.Lys441Asn)
9g.92719403C>TCA466343144BICD2c.1242G>A (p.Lys414=)
c.1323G>A (p.Lys441=)
 gnomAD v4
9g.92719405_92719407delCA589579160BICD2c.1240_1242del (p.Lys414del)
c.1321_1323del (p.Lys441del)
 dbSNP gnomAD v2 gnomAD v4
9g.92719404T>ACA374039453BICD2c.1241A>T (p.Lys414Met)
c.1322A>T (p.Lys441Met)
9g.92719404T>CCA374039470BICD2c.1241A>G (p.Lys414Arg)
c.1322A>G (p.Lys441Arg)
9g.92719404T>GCA374039474BICD2c.1241A>C (p.Lys414Thr)
c.1322A>C (p.Lys441Thr)
9g.92719405T>ACA374039484BICD2c.1240A>T (p.Lys414Ter)
c.1321A>T (p.Lys441Ter)
9g.92719405T>CCA374039475BICD2c.1240A>G (p.Lys414Glu)
c.1321A>G (p.Lys441Glu)
9g.92719405T>GCA374039478BICD2c.1240A>C (p.Lys414Gln)
c.1321A>C (p.Lys441Gln)
9g.92719406C>ACA374039495BICD2c.1239G>T (p.Glu413Asp)
c.1320G>T (p.Glu440Asp)
9g.92719406C=CA1864362311BICD2c.1239G= (p.Glu413=)
c.1320G= (p.Glu440=)
9g.92719406C>GCA374039498BICD2c.1239G>C (p.Glu413Asp)
c.1320G>C (p.Glu440Asp)
9g.92719406C>TCA466343149BICD2c.1239G>A (p.Glu413=)
c.1320G>A (p.Glu440=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.92719407T>ACA374039501BICD2c.1238A>T (p.Glu413Val)
c.1319A>T (p.Glu440Val)
9g.92719407T>CCA374039515BICD2c.1238A>G (p.Glu413Gly)
c.1319A>G (p.Glu440Gly)
9g.92719407T>GCA374039520BICD2c.1238A>C (p.Glu413Ala)
c.1319A>C (p.Glu440Ala)
9g.92719408C>ACA374039538BICD2c.1237G>T (p.Glu413Ter)
c.1318G>T (p.Glu440Ter)
9g.92719408C=CA1864362314BICD2c.1237G= (p.Glu413=)
c.1318G= (p.Glu440=)
9g.92719408C>GCA374039535BICD2c.1237G>C (p.Glu413Gln)
c.1318G>C (p.Glu440Gln)
9g.92719408C>TCA5126599BICD2c.1237G>A (p.Glu413Lys)
c.1318G>A (p.Glu440Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.92719408_92719411delinsCGTTCA1864362316BICD2c.1234_1237delinsAACG (p.Asn412=)
c.1315_1318delinsAACG (p.Asn439=)
9g.92719409G>ACA5126600BICD2c.1236C>T (p.Asn412=)
c.1317C>T (p.Asn439=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.92719409G>CCA374039553BICD2c.1236C>G (p.Asn412Lys)
c.1317C>G (p.Asn439Lys)
9g.92719409G=CA1864362323BICD2c.1236C= (p.Asn412=)
c.1317C= (p.Asn439=)
9g.92719409G>TCA374039561BICD2c.1236C>A (p.Asn412Lys)
c.1317C>A (p.Asn439Lys)
9g.92719411_92719413delCA589579161BICD2c.1234_1236del (p.Asn412del)
c.1315_1317del (p.Asn439del)
 dbSNP gnomAD v2 gnomAD v4
9g.92719410T>ACA374039564BICD2c.1235A>T (p.Asn412Ile)
c.1316A>T (p.Asn439Ile)
9g.92719410T>CCA374039576BICD2c.1235A>G (p.Asn412Ser)
c.1316A>G (p.Asn439Ser)
 gnomAD v4
9g.92719410T>GCA374039580BICD2c.1235A>C (p.Asn412Thr)
c.1316A>C (p.Asn439Thr)
9g.92719411T>ACA374039609BICD2c.1234A>T (p.Asn412Tyr)
c.1315A>T (p.Asn439Tyr)
9g.92719411T>CCA374039596BICD2c.1234A>G (p.Asn412Asp)
c.1315A>G (p.Asn439Asp)
9g.92719411T>GCA374039602BICD2c.1234A>C (p.Asn412His)
c.1315A>C (p.Asn439His)
9g.92719412G>ACA466343157BICD2c.1233C>T (p.Asp411=)
c.1314C>T (p.Asp438=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.92719412G>CCA374039612BICD2c.1233C>G (p.Asp411Glu)
c.1314C>G (p.Asp438Glu)
9g.92719412G=CA1864362331BICD2c.1233C= (p.Asp411=)
c.1314C= (p.Asp438=)
9g.92719412G>TCA374039628BICD2c.1233C>A (p.Asp411Glu)
c.1314C>A (p.Asp438Glu)
9g.92719413T>ACA374039631BICD2c.1232A>T (p.Asp411Val)
c.1313A>T (p.Asp438Val)
9g.92719413T>CCA374039632BICD2c.1232A>G (p.Asp411Gly)
c.1313A>G (p.Asp438Gly)
9g.92719413T>GCA374039633BICD2c.1232A>C (p.Asp411Ala)
c.1313A>C (p.Asp438Ala)
9g.92719414C>ACA374039657BICD2c.1231G>T (p.Asp411Tyr)
c.1312G>T (p.Asp438Tyr)
9g.92719414C=CA1864362334BICD2c.1231G= (p.Asp411=)
c.1312G= (p.Asp438=)
9g.92719414C>GCA374039635BICD2c.1231G>C (p.Asp411His)
c.1312G>C (p.Asp438His)
9g.92719414C>TCA374039638BICD2c.1231G>A (p.Asp411Asn)
c.1312G>A (p.Asp438Asn)
 dbSNP
9g.92719415C>ACA466343160BICD2c.1230G>T (p.Leu410=)
c.1311G>T (p.Leu437=)
9g.92719415C=CA1864362337BICD2c.1230G= (p.Leu410=)
c.1311G= (p.Leu437=)
9g.92719415C>GCA466343161BICD2c.1230G>C (p.Leu410=)
c.1311G>C (p.Leu437=)
9g.92719415C>TCA466343162BICD2c.1230G>A (p.Leu410=)
c.1311G>A (p.Leu437=)
 ClinVar dbSNP
9g.92719416A>CCA374039660BICD2c.1229T>G (p.Leu410Arg)
c.1310T>G (p.Leu437Arg)
9g.92719416A>GCA374039675BICD2c.1229T>C (p.Leu410Pro)
c.1310T>C (p.Leu437Pro)
9g.92719416A>TCA374039694BICD2c.1229T>A (p.Leu410Gln)
c.1310T>A (p.Leu437Gln)
9g.92719417G>ACA466343165BICD2c.1228C>T (p.Leu410=)
c.1309C>T (p.Leu437=)
9g.92719417G>CCA5126601BICD2c.1228C>G (p.Leu410Val)
c.1309C>G (p.Leu437Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.92719417G=CA1864362339BICD2c.1228C= (p.Leu410=)
c.1309C= (p.Leu437=)
9g.92719417G>TCA374039703BICD2c.1228C>A (p.Leu410Met)
c.1309C>A (p.Leu437Met)

Number of alleles fetched