Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.92719290T>ACA374038716BICD2c.1355A>T (p.Gln452Leu)
c.1436A>T (p.Gln479Leu)
9g.92719290T>CCA374038718BICD2c.1355A>G (p.Gln452Arg)
c.1436A>G (p.Gln479Arg)
9g.92719290T>GCA374038719BICD2c.1355A>C (p.Gln452Pro)
c.1436A>C (p.Gln479Pro)
9g.92719291G>ACA374038725BICD2c.1354C>T (p.Gln452Ter)
c.1435C>T (p.Gln479Ter)
9g.92719291G>CCA374038728BICD2c.1354C>G (p.Gln452Glu)
c.1435C>G (p.Gln479Glu)
9g.92719291G>TCA374038722BICD2c.1354C>A (p.Gln452Lys)
c.1435C>A (p.Gln479Lys)
9g.92719292C>ACA374038731BICD2c.1353G>T (p.Glu451Asp)
c.1434G>T (p.Glu478Asp)
9g.92719292C>GCA374038733BICD2c.1353G>C (p.Glu451Asp)
c.1434G>C (p.Glu478Asp)
9g.92719292C>TCA466343113BICD2c.1353G>A (p.Glu451=)
c.1434G>A (p.Glu478=)
 gnomAD v4
9g.92719293T>ACA374038736BICD2c.1352A>T (p.Glu451Val)
c.1433A>T (p.Glu478Val)
9g.92719293T>CCA374038742BICD2c.1352A>G (p.Glu451Gly)
c.1433A>G (p.Glu478Gly)
9g.92719293T>GCA374038745BICD2c.1352A>C (p.Glu451Ala)
c.1433A>C (p.Glu478Ala)
9g.92719294C>ACA374038747BICD2c.1351G>T (p.Glu451Ter)
c.1432G>T (p.Glu478Ter)
9g.92719294C=CA1864362119BICD2c.1351G= (p.Glu451=)
c.1432G= (p.Glu478=)
9g.92719294C>GCA374038749BICD2c.1351G>C (p.Glu451Gln)
c.1432G>C (p.Glu478Gln)
9g.92719294C>TCA5126578BICD2c.1351G>A (p.Glu451Lys)
c.1432G>A (p.Glu478Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.92719295G>ACA5126579BICD2c.1350C>T (p.Arg450=)
c.1431C>T (p.Arg477=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.92719295G>CCA466343117BICD2c.1350C>G (p.Arg450=)
c.1431C>G (p.Arg477=)
9g.92719295G=CA1864362122BICD2c.1350C= (p.Arg450=)
c.1431C= (p.Arg477=)
9g.92719295G>TCA466343118BICD2c.1350C>A (p.Arg450=)
c.1431C>A (p.Arg477=)
 dbSNP gnomAD v2
9g.92719296C>ACA374038754BICD2c.1349G>T (p.Arg450Leu)
c.1430G>T (p.Arg477Leu)
9g.92719296C=CA1864362129BICD2c.1349G= (p.Arg450=)
c.1430G= (p.Arg477=)
9g.92719296C>GCA374038756BICD2c.1349G>C (p.Arg450Pro)
c.1430G>C (p.Arg477Pro)
9g.92719296C>TCA5126580BICD2c.1349G>A (p.Arg450His)
c.1430G>A (p.Arg477His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.92719297G>ACA5126581BICD2c.1348C>T (p.Arg450Cys)
c.1429C>T (p.Arg477Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.92719297G>CCA374038760BICD2c.1348C>G (p.Arg450Gly)
c.1429C>G (p.Arg477Gly)
9g.92719297G=CA1864362136BICD2c.1348C= (p.Arg450=)
c.1429C= (p.Arg477=)
9g.92719297G>TCA5126582BICD2c.1348C>A (p.Arg450Ser)
c.1429C>A (p.Arg477Ser)
 dbSNP ExAC gnomAD v2
9g.92719298G>ACA466343119BICD2c.1347C>T (p.Leu449=)
c.1428C>T (p.Leu476=)
9g.92719298G>CCA466343120BICD2c.1347C>G (p.Leu449=)
c.1428C>G (p.Leu476=)
9g.92719298G>TCA466343121BICD2c.1347C>A (p.Leu449=)
c.1428C>A (p.Leu476=)
9g.92719299A>CCA374038764BICD2c.1346T>G (p.Leu449Arg)
c.1427T>G (p.Leu476Arg)
9g.92719299A>GCA374038770BICD2c.1346T>C (p.Leu449Pro)
c.1427T>C (p.Leu476Pro)
9g.92719299A>TCA374038772BICD2c.1346T>A (p.Leu449His)
c.1427T>A (p.Leu476His)
9g.92719300G>ACA374038774BICD2c.1345C>T (p.Leu449Phe)
c.1426C>T (p.Leu476Phe)
9g.92719300G>CCA374038775BICD2c.1345C>G (p.Leu449Val)
c.1426C>G (p.Leu476Val)
9g.92719300G>TCA374038777BICD2c.1345C>A (p.Leu449Ile)
c.1426C>A (p.Leu476Ile)
9g.92719301C>ACA374038779BICD2c.1344G>T (p.Glu448Asp)
c.1425G>T (p.Glu475Asp)
9g.92719301C>GCA374038781BICD2c.1344G>C (p.Glu448Asp)
c.1425G>C (p.Glu475Asp)
9g.92719301C>TCA466343122BICD2c.1344G>A (p.Glu448=)
c.1425G>A (p.Glu475=)
9g.92719302T>ACA374038783BICD2c.1343A>T (p.Glu448Val)
c.1424A>T (p.Glu475Val)
9g.92719302T>CCA374038786BICD2c.1343A>G (p.Glu448Gly)
c.1424A>G (p.Glu475Gly)
9g.92719302T>GCA374038787BICD2c.1343A>C (p.Glu448Ala)
c.1424A>C (p.Glu475Ala)
9g.92719303C>ACA374038790BICD2c.1342G>T (p.Glu448Ter)
c.1423G>T (p.Glu475Ter)
9g.92719303C=CA1864362139BICD2c.1342G= (p.Glu448=)
c.1423G= (p.Glu475=)
9g.92719303C>GCA374038792BICD2c.1342G>C (p.Glu448Gln)
c.1423G>C (p.Glu475Gln)
9g.92719303C>TCA5126583BICD2c.1342G>A (p.Glu448Lys)
c.1423G>A (p.Glu475Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.92719304G>ACA5126584BICD2c.1341C>T (p.Gly447=)
c.1422C>T (p.Gly474=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.92719304G>CCA466343125BICD2c.1341C>G (p.Gly447=)
c.1422C>G (p.Gly474=)
9g.92719304G=CA1864362146BICD2c.1341C= (p.Gly447=)
c.1422C= (p.Gly474=)
9g.92719304G>TCA466343126BICD2c.1341C>A (p.Gly447=)
c.1422C>A (p.Gly474=)
 COSMIC COSMIC
9g.92719305C>ACA374038800BICD2c.1340G>T (p.Gly447Val)
c.1421G>T (p.Gly474Val)
9g.92719305C>GCA374038798BICD2c.1340G>C (p.Gly447Ala)
c.1421G>C (p.Gly474Ala)
9g.92719305C>TCA374038801BICD2c.1340G>A (p.Gly447Asp)
c.1421G>A (p.Gly474Asp)
9g.92719306C>ACA374038802BICD2c.1339G>T (p.Gly447Cys)
c.1420G>T (p.Gly474Cys)
 COSMIC
9g.92719306C>GCA374038803BICD2c.1339G>C (p.Gly447Arg)
c.1420G>C (p.Gly474Arg)
9g.92719306C>TCA374038804BICD2c.1339G>A (p.Gly447Ser)
c.1420G>A (p.Gly474Ser)
9g.92719307A>CCA466343127BICD2c.1338T>G (p.Ala446=)
c.1419T>G (p.Ala473=)
9g.92719307A>GCA466343129BICD2c.1338T>C (p.Ala446=)
c.1419T>C (p.Ala473=)
9g.92719307A>TCA466343128BICD2c.1338T>A (p.Ala446=)
c.1419T>A (p.Ala473=)
9g.92719308G>ACA374038805BICD2c.1337C>T (p.Ala446Val)
c.1418C>T (p.Ala473Val)
9g.92719308G>CCA374038807BICD2c.1337C>G (p.Ala446Gly)
c.1418C>G (p.Ala473Gly)
9g.92719308G>TCA374038808BICD2c.1337C>A (p.Ala446Asp)
c.1418C>A (p.Ala473Asp)
9g.92719309C>ACA374038809BICD2c.1336G>T (p.Ala446Ser)
c.1417G>T (p.Ala473Ser)
9g.92719309C>GCA374038810BICD2c.1336G>C (p.Ala446Pro)
c.1417G>C (p.Ala473Pro)
9g.92719309C>TCA374038812BICD2c.1336G>A (p.Ala446Thr)
c.1417G>A (p.Ala473Thr)
9g.92719310C>ACA374038815BICD2c.1335G>T (p.Glu445Asp)
c.1416G>T (p.Glu472Asp)
9g.92719310C=CA1864362150BICD2c.1335G= (p.Glu445=)
c.1416G= (p.Glu472=)
9g.92719310C>GCA374038816BICD2c.1335G>C (p.Glu445Asp)
c.1416G>C (p.Glu472Asp)
9g.92719310C>TCA466343134BICD2c.1335G>A (p.Glu445=)
c.1416G>A (p.Glu472=)
 ClinVar dbSNP
9g.92719311T>ACA374038823BICD2c.1334A>T (p.Glu445Val)
c.1415A>T (p.Glu472Val)
9g.92719311T>CCA374038821BICD2c.1334A>G (p.Glu445Gly)
c.1415A>G (p.Glu472Gly)
 dbSNP gnomAD v3 gnomAD v4
9g.92719311T>GCA374038819BICD2c.1334A>C (p.Glu445Ala)
c.1415A>C (p.Glu472Ala)
9g.92719311T=CA1864362153BICD2c.1334A= (p.Glu445=)
c.1415A= (p.Glu472=)
9g.92719312C>ACA374038826BICD2c.1333G>T (p.Glu445Ter)
c.1414G>T (p.Glu472Ter)
9g.92719312C=CA1864362157BICD2c.1333G= (p.Glu445=)
c.1414G= (p.Glu472=)
9g.92719312C>GCA374038829BICD2c.1333G>C (p.Glu445Gln)
c.1414G>C (p.Glu472Gln)
9g.92719312C>TCA16605726BICD2c.1333G>A (p.Glu445Lys)
c.1414G>A (p.Glu472Lys)
 ClinVar dbSNP
9g.92719320_92719325dupCA2690686270BICD2c.1328_1333dup (p.Ala444_Glu445insValAla)
c.1409_1414dup (p.Ala471_Glu472insValAla)
 gnomAD v4
9g.92719313A>CCA466343137BICD2c.1332T>G (p.Ala444=)
c.1413T>G (p.Ala471=)
9g.92719313A>GCA466343138BICD2c.1332T>C (p.Ala444=)
c.1413T>C (p.Ala471=)
9g.92719313A>TCA466343139BICD2c.1332T>A (p.Ala444=)
c.1413T>A (p.Ala471=)
9g.92719314G>ACA374038832BICD2c.1331C>T (p.Ala444Val)
c.1412C>T (p.Ala471Val)
9g.92719314G>CCA374038834BICD2c.1331C>G (p.Ala444Gly)
c.1412C>G (p.Ala471Gly)
9g.92719314G>TCA374038837BICD2c.1331C>A (p.Ala444Asp)
c.1412C>A (p.Ala471Asp)
9g.92719315C>ACA374038839BICD2c.1330G>T (p.Ala444Ser)
c.1411G>T (p.Ala471Ser)
9g.92719315C>GCA374038840BICD2c.1330G>C (p.Ala444Pro)
c.1411G>C (p.Ala471Pro)
9g.92719315C>TCA374038843BICD2c.1330G>A (p.Ala444Thr)
c.1411G>A (p.Ala471Thr)
9g.92719316C>ACA466343141BICD2c.1329G>T (p.Val443=)
c.1410G>T (p.Val470=)
9g.92719316C>GCA466343142BICD2c.1329G>C (p.Val443=)
c.1410G>C (p.Val470=)
 gnomAD v4
9g.92719316C>TCA466343143BICD2c.1329G>A (p.Val443=)
c.1410G>A (p.Val470=)
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)

Number of alleles fetched