Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.6301207T>ACA356174840WFS1c.1448T>A (p.Leu483Gln)
c.1389T>A
c.1412T>A (p.Leu471Gln)
c.1163T>A (p.Leu388Gln)
c.1071T>A (p.Ala357=)
n.1597T>A
c.1421T>A (p.Leu474Gln)
4g.6301207T>CCA356174841WFS1c.1448T>C (p.Leu483Pro)
c.1389T>C
c.1412T>C (p.Leu471Pro)
c.1163T>C (p.Leu388Pro)
c.1071T>C (p.Ala357=)
n.1597T>C
c.1421T>C (p.Leu474Pro)
4g.6301207T>GCA356174842WFS1c.1448T>G (p.Leu483Arg)
c.1389T>G
c.1412T>G (p.Leu471Arg)
c.1163T>G (p.Leu388Arg)
c.1071T>G (p.Ala357=)
n.1597T>G
c.1421T>G (p.Leu474Arg)
dbSNP
4g.6301207T=CA1435772894WFS1c.1448T= (p.Leu483=)
c.1389T=
c.1412T= (p.Leu471=)
c.1163T= (p.Leu388=)
c.1071T= (p.Ala357=)
n.1597T=
c.1421T= (p.Leu474=)
4g.6301208G>ACA438368861WFS1c.1449G>A (p.Leu483=)
c.1390G>A
c.1413G>A (p.Leu471=)
c.1164G>A (p.Leu388=)
c.1072G>A (p.Ala358Thr)
n.1598G>A
c.1422G>A (p.Leu474=)
gnomAD v4
4g.6301208G>CCA438368863WFS1c.1449G>C (p.Leu483=)
c.1390G>C
c.1413G>C (p.Leu471=)
c.1164G>C (p.Leu388=)
c.1072G>C (p.Ala358Pro)
n.1598G>C
c.1422G>C (p.Leu474=)
4g.6301208G>TCA438368866WFS1c.1449G>T (p.Leu483=)
c.1390G>T
c.1413G>T (p.Leu471=)
c.1164G>T (p.Leu388=)
c.1072G>T (p.Ala358Ser)
n.1598G>T
c.1422G>T (p.Leu474=)
4g.6301209C>ACA356174843WFS1c.1450C>A (p.Pro484Thr)
c.1391C>A
c.1414C>A (p.Pro472Thr)
c.1165C>A (p.Pro389Thr)
c.1073C>A (p.Ala358Asp)
n.1599C>A
c.1423C>A (p.Pro475Thr)
4g.6301209C=CA1435772897WFS1c.1450C= (p.Pro484=)
c.1391C=
c.1414C= (p.Pro472=)
c.1165C= (p.Pro389=)
c.1073C= (p.Ala358=)
n.1599C=
c.1423C= (p.Pro475=)
4g.6301209C>GCA356174844WFS1c.1450C>G (p.Pro484Ala)
c.1391C>G
c.1414C>G (p.Pro472Ala)
c.1165C>G (p.Pro389Ala)
c.1073C>G (p.Ala358Gly)
n.1599C>G
c.1423C>G (p.Pro475Ala)
4g.6301209C>TCA356174845WFS1c.1450C>T (p.Pro484Ser)
c.1391C>T
c.1414C>T (p.Pro472Ser)
c.1165C>T (p.Pro389Ser)
c.1073C>T (p.Ala358Val)
n.1599C>T
c.1423C>T (p.Pro475Ser)
dbSNP gnomAD v2 gnomAD v4
4g.6301210C>ACA356174846WFS1c.1451C>A (p.Pro484His)
c.1392C>A
c.1415C>A (p.Pro472His)
c.1166C>A (p.Pro389His)
c.1074C>A (p.Ala358=)
n.1600C>A
c.1424C>A (p.Pro475His)
4g.6301210C>GCA356174847WFS1c.1451C>G (p.Pro484Arg)
c.1392C>G
c.1415C>G (p.Pro472Arg)
c.1166C>G (p.Pro389Arg)
c.1074C>G (p.Ala358=)
n.1600C>G
c.1424C>G (p.Pro475Arg)
gnomAD v4
4g.6301210C>TCA356174848WFS1c.1451C>T (p.Pro484Leu)
c.1392C>T
c.1415C>T (p.Pro472Leu)
c.1166C>T (p.Pro389Leu)
c.1074C>T (p.Ala358=)
n.1600C>T
c.1424C>T (p.Pro475Leu)
ClinVar gnomAD v4
4g.6301211C>ACA2839341WFS1c.1452C>A (p.Pro484=)
c.1393C>A
c.1416C>A (p.Pro472=)
c.1167C>A (p.Pro389=)
c.1075C>A (p.Leu359Ile)
n.1601C>A
c.1425C>A (p.Pro475=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301211C=CA1435772902WFS1c.1452C= (p.Pro484=)
c.1393C=
c.1416C= (p.Pro472=)
c.1167C= (p.Pro389=)
c.1075C= (p.Leu359=)
n.1601C=
c.1425C= (p.Pro475=)
4g.6301211C>GCA438368875WFS1c.1452C>G (p.Pro484=)
c.1393C>G
c.1416C>G (p.Pro472=)
c.1167C>G (p.Pro389=)
c.1075C>G (p.Leu359Val)
n.1601C>G
c.1425C>G (p.Pro475=)
gnomAD v4
4g.6301211C>TCA438368874WFS1c.1452C>T (p.Pro484=)
c.1393C>T
c.1416C>T (p.Pro472=)
c.1167C>T (p.Pro389=)
c.1075C>T (p.Leu359Phe)
n.1601C>T
c.1425C>T (p.Pro475=)
gnomAD v4
4g.6301212T>ACA356174852WFS1c.1453T>A (p.Ser485Thr)
c.1394T>A
c.1417T>A (p.Ser473Thr)
c.1168T>A (p.Ser390Thr)
c.1076T>A (p.Leu359His)
n.1602T>A
c.1426T>A (p.Ser476Thr)
4g.6301212T>CCA356174850WFS1c.1453T>C (p.Ser485Pro)
c.1394T>C
c.1417T>C (p.Ser473Pro)
c.1168T>C (p.Ser390Pro)
c.1076T>C (p.Leu359Pro)
n.1602T>C
c.1426T>C (p.Ser476Pro)
gnomAD v4
4g.6301212T>GCA356174849WFS1c.1453T>G (p.Ser485Ala)
c.1394T>G
c.1417T>G (p.Ser473Ala)
c.1168T>G (p.Ser390Ala)
c.1076T>G (p.Leu359Arg)
n.1602T>G
c.1426T>G (p.Ser476Ala)
4g.6301213C>ACA356174853WFS1c.1454C>A (p.Ser485Tyr)
c.1395C>A
c.1418C>A (p.Ser473Tyr)
c.1169C>A (p.Ser390Tyr)
c.1077C>A (p.Leu359=)
n.1603C>A
c.1427C>A (p.Ser476Tyr)
4g.6301213C>GCA356174855WFS1c.1454C>G (p.Ser485Cys)
c.1395C>G
c.1418C>G (p.Ser473Cys)
c.1169C>G (p.Ser390Cys)
c.1077C>G (p.Leu359=)
n.1603C>G
c.1427C>G (p.Ser476Cys)
4g.6301213C>TCA356174857WFS1c.1454C>T (p.Ser485Phe)
c.1395C>T
c.1418C>T (p.Ser473Phe)
c.1169C>T (p.Ser390Phe)
c.1077C>T (p.Leu359=)
n.1603C>T
c.1427C>T (p.Ser476Phe)
4g.6301214C>ACA438368887WFS1c.1455C>A (p.Ser485=)
c.1396C>A
c.1419C>A (p.Ser473=)
c.1170C>A (p.Ser390=)
c.1078C>A (p.His360Asn)
n.1604C>A
c.1428C>A (p.Ser476=)
4g.6301214C=CA1435772906WFS1c.1455C= (p.Ser485=)
c.1396C=
c.1419C= (p.Ser473=)
c.1170C= (p.Ser390=)
c.1078C= (p.His360=)
n.1604C=
c.1428C= (p.Ser476=)
4g.6301214C>GCA438368888WFS1c.1455C>G (p.Ser485=)
c.1396C>G
c.1419C>G (p.Ser473=)
c.1170C>G (p.Ser390=)
c.1078C>G (p.His360Asp)
n.1604C>G
c.1428C>G (p.Ser476=)
dbSNP gnomAD v2 gnomAD v4
4g.6301214C>TCA2839342WFS1c.1455C>T (p.Ser485=)
c.1396C>T
c.1419C>T (p.Ser473=)
c.1170C>T (p.Ser390=)
c.1078C>T (p.His360Tyr)
n.1604C>T
c.1428C>T (p.Ser476=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301214_6301222delCA2573102953WFS1c.1455_1463del (p.Met486_Leu488del)
c.1396_1404del
c.1419_1427del (p.Met474_Leu476del)
c.1170_1178del (p.Met391_Leu393del)
c.1078_1086del (p.His360_Leu362del)
n.1604_1612del
c.1428_1436del (p.Met477_Leu479del)
4g.6301215A=CA1435772910WFS1c.1456A= (p.Met486=)
c.1397A=
c.1420A= (p.Met474=)
c.1171A= (p.Met391=)
c.1079A= (p.His360=)
n.1605A=
c.1429A= (p.Met477=)
4g.6301215A>CCA2839343WFS1c.1456A>C (p.Met486Leu)
c.1397A>C
c.1420A>C (p.Met474Leu)
c.1171A>C (p.Met391Leu)
c.1079A>C (p.His360Pro)
n.1605A>C
c.1429A>C (p.Met477Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301215A>GCA2839344WFS1c.1456A>G (p.Met486Val)
c.1397A>G
c.1420A>G (p.Met474Val)
c.1171A>G (p.Met391Val)
c.1079A>G (p.His360Arg)
n.1605A>G
c.1429A>G (p.Met477Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301215A>TCA356174862WFS1c.1456A>T (p.Met486Leu)
c.1397A>T
c.1420A>T (p.Met474Leu)
c.1171A>T (p.Met391Leu)
c.1079A>T (p.His360Leu)
n.1605A>T
c.1429A>T (p.Met477Leu)
4g.6301216T>ACA356174864WFS1c.1457T>A (p.Met486Lys)
c.1398T>A
c.1421T>A (p.Met474Lys)
c.1172T>A (p.Met391Lys)
c.1080T>A (p.His360Gln)
n.1606T>A
c.1430T>A (p.Met477Lys)
4g.6301216T>CCA356174866WFS1c.1457T>C (p.Met486Thr)
c.1398T>C
c.1421T>C (p.Met474Thr)
c.1172T>C (p.Met391Thr)
c.1080T>C (p.His360=)
n.1606T>C
c.1430T>C (p.Met477Thr)
gnomAD v4
4g.6301216T>GCA356174868WFS1c.1457T>G (p.Met486Arg)
c.1398T>G
c.1421T>G (p.Met474Arg)
c.1172T>G (p.Met391Arg)
c.1080T>G (p.His360Gln)
n.1606T>G
c.1430T>G (p.Met477Arg)
ClinVar gnomAD v4
4g.6301217G>ACA356174871WFS1c.1458G>A (p.Met486Ile)
c.1399G>A
c.1422G>A (p.Met474Ile)
c.1173G>A (p.Met391Ile)
c.1081G>A (p.Ala361Thr)
n.1607G>A
c.1431G>A (p.Met477Ile)
4g.6301217G>CCA356174873WFS1c.1458G>C (p.Met486Ile)
c.1399G>C
c.1422G>C (p.Met474Ile)
c.1173G>C (p.Met391Ile)
c.1081G>C (p.Ala361Pro)
n.1607G>C
c.1431G>C (p.Met477Ile)
4g.6301217G>TCA356174875WFS1c.1458G>T (p.Met486Ile)
c.1399G>T
c.1422G>T (p.Met474Ile)
c.1173G>T (p.Met391Ile)
c.1081G>T (p.Ala361Ser)
n.1607G>T
c.1431G>T (p.Met477Ile)
4g.6301218C>ACA356174881WFS1c.1459C>A (p.Pro487Thr)
c.1400C>A
c.1423C>A (p.Pro475Thr)
c.1174C>A (p.Pro392Thr)
c.1082C>A (p.Ala361Asp)
n.1608C>A
c.1432C>A (p.Pro478Thr)
4g.6301218C=CA1435772912WFS1c.1459C= (p.Pro487=)
c.1400C=
c.1423C= (p.Pro475=)
c.1174C= (p.Pro392=)
c.1082C= (p.Ala361=)
n.1608C=
c.1432C= (p.Pro478=)
4g.6301218C>GCA356174877WFS1c.1459C>G (p.Pro487Ala)
c.1400C>G
c.1423C>G (p.Pro475Ala)
c.1174C>G (p.Pro392Ala)
c.1082C>G (p.Ala361Gly)
n.1608C>G
c.1432C>G (p.Pro478Ala)
dbSNP gnomAD v4
4g.6301218C>TCA356174879WFS1c.1459C>T (p.Pro487Ser)
c.1400C>T
c.1423C>T (p.Pro475Ser)
c.1174C>T (p.Pro392Ser)
c.1082C>T (p.Ala361Val)
n.1608C>T
c.1432C>T (p.Pro478Ser)
dbSNP gnomAD v2 gnomAD v4
4g.6301219C>ACA356174883WFS1c.1460C>A (p.Pro487His)
c.1401C>A
c.1424C>A (p.Pro475His)
c.1175C>A (p.Pro392His)
c.1083C>A (p.Ala361=)
n.1609C>A
c.1433C>A (p.Pro478His)
4g.6301219C=CA1435772914WFS1c.1460C= (p.Pro487=)
c.1401C=
c.1424C= (p.Pro475=)
c.1175C= (p.Pro392=)
c.1083C= (p.Ala361=)
n.1609C=
c.1433C= (p.Pro478=)
4g.6301219C>GCA356174885WFS1c.1460C>G (p.Pro487Arg)
c.1401C>G
c.1424C>G (p.Pro475Arg)
c.1175C>G (p.Pro392Arg)
c.1083C>G (p.Ala361=)
n.1609C>G
c.1433C>G (p.Pro478Arg)
4g.6301219C>TCA2839345WFS1c.1460C>T (p.Pro487Leu)
c.1401C>T
c.1424C>T (p.Pro475Leu)
c.1175C>T (p.Pro392Leu)
c.1083C>T (p.Ala361=)
n.1609C>T
c.1433C>T (p.Pro478Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.6301220C>ACA438368907WFS1c.1461C>A (p.Pro487=)
c.1402C>A
c.1425C>A (p.Pro475=)
c.1176C>A (p.Pro392=)
c.1084C>A (p.Leu362Ile)
n.1610C>A
c.1434C>A (p.Pro478=)
4g.6301220C=CA1435772919WFS1c.1461C= (p.Pro487=)
c.1402C=
c.1425C= (p.Pro475=)
c.1176C= (p.Pro392=)
c.1084C= (p.Leu362=)
n.1610C=
c.1434C= (p.Pro478=)
4g.6301220C>GCA438368908WFS1c.1461C>G (p.Pro487=)
c.1402C>G
c.1425C>G (p.Pro475=)
c.1176C>G (p.Pro392=)
c.1084C>G (p.Leu362Val)
n.1610C>G
c.1434C>G (p.Pro478=)
4g.6301220C>TCA2839346WFS1c.1461C>T (p.Pro487=)
c.1402C>T
c.1425C>T (p.Pro475=)
c.1176C>T (p.Pro392=)
c.1084C>T (p.Leu362Phe)
n.1610C>T
c.1434C>T (p.Pro478=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301221T>ACA356174889WFS1c.1462T>A (p.Leu488Met)
c.1403T>A
c.1426T>A (p.Leu476Met)
c.1177T>A (p.Leu393Met)
c.1085T>A (p.Leu362His)
n.1611T>A
c.1435T>A (p.Leu479Met)
4g.6301221T>CCA438368912WFS1c.1462T>C (p.Leu488=)
c.1403T>C
c.1426T>C (p.Leu476=)
c.1177T>C (p.Leu393=)
c.1085T>C (p.Leu362Pro)
n.1611T>C
c.1435T>C (p.Leu479=)
4g.6301221T>GCA356174892WFS1c.1462T>G (p.Leu488Val)
c.1403T>G
c.1426T>G (p.Leu476Val)
c.1177T>G (p.Leu393Val)
c.1085T>G (p.Leu362Arg)
n.1611T>G
c.1435T>G (p.Leu479Val)
4g.6301222T>ACA356174895WFS1c.1463T>A (p.Leu488Ter)
c.1404T>A
c.1427T>A (p.Leu476Ter)
c.1178T>A (p.Leu393Ter)
c.1086T>A (p.Leu362=)
n.1612T>A
c.1436T>A (p.Leu479Ter)
4g.6301222T>CCA356174897WFS1c.1463T>C (p.Leu488Ser)
c.1404T>C
c.1427T>C (p.Leu476Ser)
c.1178T>C (p.Leu393Ser)
c.1086T>C (p.Leu362=)
n.1612T>C
c.1436T>C (p.Leu479Ser)
4g.6301222T>GCA356174898WFS1c.1463T>G (p.Leu488Trp)
c.1404T>G
c.1427T>G (p.Leu476Trp)
c.1178T>G (p.Leu393Trp)
c.1086T>G (p.Leu362=)
n.1612T>G
c.1436T>G (p.Leu479Trp)
4g.6301223G>ACA438368920WFS1c.1464G>A (p.Leu488=)
c.1405G>A
c.1428G>A (p.Leu476=)
c.1179G>A (p.Leu393=)
c.1087G>A (p.Glu363Lys)
n.1613G>A
c.1437G>A (p.Leu479=)
gnomAD v4
4g.6301223G>CCA356174900WFS1c.1464G>C (p.Leu488Phe)
c.1405G>C
c.1428G>C (p.Leu476Phe)
c.1179G>C (p.Leu393Phe)
c.1087G>C (p.Glu363Gln)
n.1613G>C
c.1437G>C (p.Leu479Phe)
dbSNP gnomAD v2
4g.6301223G=CA1435772922WFS1c.1464G= (p.Leu488=)
c.1405G=
c.1428G= (p.Leu476=)
c.1179G= (p.Leu393=)
c.1087G= (p.Glu363=)
n.1613G=
c.1437G= (p.Leu479=)
4g.6301223G>TCA356174902WFS1c.1464G>T (p.Leu488Phe)
c.1405G>T
c.1428G>T (p.Leu476Phe)
c.1179G>T (p.Leu393Phe)
c.1087G>T (p.Glu363Ter)
n.1613G>T
c.1437G>T (p.Leu479Phe)
4g.6301224A>CCA356174908WFS1c.1465A>C (p.Asn489His)
c.1406A>C
c.1429A>C (p.Asn477His)
c.1180A>C (p.Asn394His)
c.1088A>C (p.Glu363Ala)
n.1614A>C
c.1438A>C (p.Asn480His)
ClinVar dbSNP
4g.6301224A>GCA356174907WFS1c.1465A>G (p.Asn489Asp)
c.1406A>G
c.1429A>G (p.Asn477Asp)
c.1180A>G (p.Asn394Asp)
c.1088A>G (p.Glu363Gly)
n.1614A>G
c.1438A>G (p.Asn480Asp)
4g.6301224A>TCA356174904WFS1c.1465A>T (p.Asn489Tyr)
c.1406A>T
c.1429A>T (p.Asn477Tyr)
c.1180A>T (p.Asn394Tyr)
c.1088A>T (p.Glu363Val)
n.1614A>T
c.1438A>T (p.Asn480Tyr)
4g.6301225A>CCA356174911WFS1c.1466A>C (p.Asn489Thr)
c.1407A>C
c.1430A>C (p.Asn477Thr)
c.1181A>C (p.Asn394Thr)
c.1089A>C (p.Glu363Asp)
n.1615A>C
c.1439A>C (p.Asn480Thr)
4g.6301225A>GCA356174915WFS1c.1466A>G (p.Asn489Ser)
c.1407A>G
c.1430A>G (p.Asn477Ser)
c.1181A>G (p.Asn394Ser)
c.1089A>G (p.Glu363=)
n.1615A>G
c.1439A>G (p.Asn480Ser)
4g.6301225A>TCA356174913WFS1c.1466A>T (p.Asn489Ile)
c.1407A>T
c.1430A>T (p.Asn477Ile)
c.1181A>T (p.Asn394Ile)
c.1089A>T (p.Glu363Asp)
n.1615A>T
c.1439A>T (p.Asn480Ile)
4g.6301225_6301245delinsATTGGCCCTACCTGAAGGTCCCA1435772925WFS1c.1466_1486delinsATTGGCCCTACCTGAAGGTCC (p.Asn489=)
c.1407_1427delinsATTGGCCCTACCTGAAGGTCC
c.1430_1450delinsATTGGCCCTACCTGAAGGTCC (p.Asn477=)
c.1181_1201delinsATTGGCCCTACCTGAAGGTCC (p.Asn394=)
c.1089_1109delinsATTGGCCCTACCTGAAGGTCC (p.Glu363=)
n.1615_1635delinsATTGGCCCTACCTGAAGGTCC
c.1439_1459delinsATTGGCCCTACCTGAAGGTCC (p.Asn480=)
4g.6301226T>ACA356174917WFS1c.1467T>A (p.Asn489Lys)
c.1408T>A
c.1431T>A (p.Asn477Lys)
c.1182T>A (p.Asn394Lys)
c.1090T>A (p.Leu364Met)
n.1616T>A
c.1440T>A (p.Asn480Lys)
4g.6301226T>CCA2839347WFS1c.1467T>C (p.Asn489=)
c.1408T>C
c.1431T>C (p.Asn477=)
c.1182T>C (p.Asn394=)
c.1090T>C (p.Leu364=)
n.1616T>C
c.1440T>C (p.Asn480=)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.6301226T>GCA356174920WFS1c.1467T>G (p.Asn489Lys)
c.1408T>G
c.1431T>G (p.Asn477Lys)
c.1182T>G (p.Asn394Lys)
c.1090T>G (p.Leu364Val)
n.1616T>G
c.1440T>G (p.Asn480Lys)
4g.6301226T=CA1435772926WFS1c.1467T= (p.Asn489=)
c.1408T=
c.1431T= (p.Asn477=)
c.1182T= (p.Asn394=)
c.1090T= (p.Leu364=)
n.1616T=
c.1440T= (p.Asn480=)
4g.6301232_6301251delCA1058891556WFS1c.1473_1492del (p.Tyr492AspfsTer?)
c.1414_1433del
c.1437_1456del (p.Tyr480AspfsTer?)
c.1188_1207del (p.Tyr397AspfsTer?)
c.1096_1115del (p.Leu366ArgfsTer?)
n.1622_1641del
c.1446_1465del (p.Tyr483AspfsTer?)
dbSNP gnomAD v3 gnomAD v4
4g.6301227T>ACA356174922WFS1c.1468T>A (p.Trp490Arg)
c.1409T>A
c.1432T>A (p.Trp478Arg)
c.1183T>A (p.Trp395Arg)
c.1091T>A (p.Leu364Ter)
n.1617T>A
c.1441T>A (p.Trp481Arg)
4g.6301227T>CCA356174924WFS1c.1468T>C (p.Trp490Arg)
c.1409T>C
c.1432T>C (p.Trp478Arg)
c.1183T>C (p.Trp395Arg)
c.1091T>C (p.Leu364Ser)
n.1617T>C
c.1441T>C (p.Trp481Arg)
4g.6301227T>GCA91796266WFS1c.1468T>G (p.Trp490Gly)
c.1409T>G
c.1432T>G (p.Trp478Gly)
c.1183T>G (p.Trp395Gly)
c.1091T>G (p.Leu364Trp)
n.1617T>G
c.1441T>G (p.Trp481Gly)
dbSNP gnomAD v4
4g.6301227T=CA1435772929WFS1c.1468T= (p.Trp490=)
c.1409T=
c.1432T= (p.Trp478=)
c.1183T= (p.Trp395=)
c.1091T= (p.Leu364=)
n.1617T=
c.1441T= (p.Trp481=)
4g.6301228G>ACA2839348WFS1c.1469G>A (p.Trp490Ter)
c.1410G>A
c.1433G>A (p.Trp478Ter)
c.1184G>A (p.Trp395Ter)
c.1092G>A (p.Leu364=)
n.1618G>A
c.1442G>A (p.Trp481Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301228G>CCA356174928WFS1c.1469G>C (p.Trp490Ser)
c.1410G>C
c.1433G>C (p.Trp478Ser)
c.1184G>C (p.Trp395Ser)
c.1092G>C (p.Leu364Phe)
n.1618G>C
c.1442G>C (p.Trp481Ser)
4g.6301228G=CA1435772935WFS1c.1469G= (p.Trp490=)
c.1410G=
c.1433G= (p.Trp478=)
c.1184G= (p.Trp395=)
c.1092G= (p.Leu364=)
n.1618G=
c.1442G= (p.Trp481=)
4g.6301228G>TCA91796267WFS1c.1469G>T (p.Trp490Leu)
c.1410G>T
c.1433G>T (p.Trp478Leu)
c.1184G>T (p.Trp395Leu)
c.1092G>T (p.Leu364Phe)
n.1618G>T
c.1442G>T (p.Trp481Leu)
dbSNP
4g.6301229delCA2586973623WFS1c.1470del (p.Trp490CysfsTer4)
c.1411del
c.1434del (p.Trp478CysfsTer4)
c.1185del (p.Trp395CysfsTer4)
c.1093del (p.Ala365ProfsTer?)
n.1619del
c.1443del (p.Trp481CysfsTer4)
4g.6301228_6301263dupCA2669843434WFS1c.1469_1504dup (p.Ile501_Thr502insArgProTyrLeuLysValLeuGlyGlnThrPheIle)
c.1410_1445dup
c.1433_1468dup (p.Ile489_Thr490insArgProTyrLeuLysValLeuGlyGlnThrPheIle)
c.1184_1219dup (p.Ile406_Thr407insArgProTyrLeuLysValLeuGlyGlnThrPheIle)
c.1092_1127dup (p.His375_His376insGlnAlaLeuProGluGlyProTrpProAspLeuHis)
n.1618_1653dup
c.1442_1477dup (p.Ile492_Thr493insArgProTyrLeuLysValLeuGlyGlnThrPheIle)
gnomAD v4
4g.6301229G>ACA356174932WFS1c.1470G>A (p.Trp490Ter)
c.1411G>A
c.1434G>A (p.Trp478Ter)
c.1185G>A (p.Trp395Ter)
c.1093G>A (p.Ala365Thr)
n.1619G>A
c.1443G>A (p.Trp481Ter)
dbSNP gnomAD v2 gnomAD v4
4g.6301229G>CCA356174934WFS1c.1470G>C (p.Trp490Cys)
c.1411G>C
c.1434G>C (p.Trp478Cys)
c.1185G>C (p.Trp395Cys)
c.1093G>C (p.Ala365Pro)
n.1619G>C
c.1443G>C (p.Trp481Cys)
4g.6301229G=CA1435772937WFS1c.1470G= (p.Trp490=)
c.1411G=
c.1434G= (p.Trp478=)
c.1185G= (p.Trp395=)
c.1093G= (p.Ala365=)
n.1619G=
c.1443G= (p.Trp481=)
4g.6301229G>TCA356174935WFS1c.1470G>T (p.Trp490Cys)
c.1411G>T
c.1434G>T (p.Trp478Cys)
c.1185G>T (p.Trp395Cys)
c.1093G>T (p.Ala365Ser)
n.1619G>T
c.1443G>T (p.Trp481Cys)
gnomAD v4
4g.6301230C>ACA356174942WFS1c.1471C>A (p.Pro491Thr)
c.1412C>A
c.1435C>A (p.Pro479Thr)
c.1186C>A (p.Pro396Thr)
c.1094C>A (p.Ala365Asp)
n.1620C>A
c.1444C>A (p.Pro482Thr)
4g.6301230C=CA1435772939WFS1c.1471C= (p.Pro491=)
c.1412C=
c.1435C= (p.Pro479=)
c.1186C= (p.Pro396=)
c.1094C= (p.Ala365=)
n.1620C=
c.1444C= (p.Pro482=)
4g.6301230C>GCA356174938WFS1c.1471C>G (p.Pro491Ala)
c.1412C>G
c.1435C>G (p.Pro479Ala)
c.1186C>G (p.Pro396Ala)
c.1094C>G (p.Ala365Gly)
n.1620C>G
c.1444C>G (p.Pro482Ala)
ClinVar
4g.6301230C>TCA356174940WFS1c.1471C>T (p.Pro491Ser)
c.1412C>T
c.1435C>T (p.Pro479Ser)
c.1186C>T (p.Pro396Ser)
c.1094C>T (p.Ala365Val)
n.1620C>T
c.1444C>T (p.Pro482Ser)
ClinVar dbSNP gnomAD v3 gnomAD v4
4g.6301231C>ACA356174945WFS1c.1472C>A (p.Pro491His)
c.1413C>A
c.1436C>A (p.Pro479His)
c.1187C>A (p.Pro396His)
c.1095C>A (p.Ala365=)
n.1621C>A
c.1445C>A (p.Pro482His)
4g.6301231C>GCA356174947WFS1c.1472C>G (p.Pro491Arg)
c.1413C>G
c.1436C>G (p.Pro479Arg)
c.1187C>G (p.Pro396Arg)
c.1095C>G (p.Ala365=)
n.1621C>G
c.1445C>G (p.Pro482Arg)
dbSNP
4g.6301231C>TCA356174949WFS1c.1472C>T (p.Pro491Leu)
c.1413C>T
c.1436C>T (p.Pro479Leu)
c.1187C>T (p.Pro396Leu)
c.1095C>T (p.Ala365=)
n.1621C>T
c.1445C>T (p.Pro482Leu)
gnomAD v4
4g.6301232C>ACA438368932WFS1c.1473C>A (p.Pro491=)
c.1414C>A
c.1437C>A (p.Pro479=)
c.1188C>A (p.Pro396=)
c.1096C>A (p.Leu366Ile)
n.1622C>A
c.1446C>A (p.Pro482=)
4g.6301232C=CA1435772944WFS1c.1473C= (p.Pro491=)
c.1414C=
c.1437C= (p.Pro479=)
c.1188C= (p.Pro396=)
c.1096C= (p.Leu366=)
n.1622C=
c.1446C= (p.Pro482=)
4g.6301232C>GCA2839349WFS1c.1473C>G (p.Pro491=)
c.1414C>G
c.1437C>G (p.Pro479=)
c.1188C>G (p.Pro396=)
c.1096C>G (p.Leu366Val)
n.1622C>G
c.1446C>G (p.Pro482=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301232C>TCA91796268WFS1c.1473C>T (p.Pro491=)
c.1414C>T
c.1437C>T (p.Pro479=)
c.1188C>T (p.Pro396=)
c.1096C>T (p.Leu366=)
n.1622C>T
c.1446C>T (p.Pro482=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.6301233T>ACA356174953WFS1c.1474T>A (p.Tyr492Asn)
c.1415T>A
c.1438T>A (p.Tyr480Asn)
c.1189T>A (p.Tyr397Asn)
c.1097T>A (p.Leu366Gln)
n.1623T>A
c.1447T>A (p.Tyr483Asn)
4g.6301233T>CCA2839350WFS1c.1474T>C (p.Tyr492His)
c.1415T>C
c.1438T>C (p.Tyr480His)
c.1189T>C (p.Tyr397His)
c.1097T>C (p.Leu366Pro)
n.1623T>C
c.1447T>C (p.Tyr483His)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.6301233T>GCA356174956WFS1c.1474T>G (p.Tyr492Asp)
c.1415T>G
c.1438T>G (p.Tyr480Asp)
c.1189T>G (p.Tyr397Asp)
c.1097T>G (p.Leu366Arg)
n.1623T>G
c.1447T>G (p.Tyr483Asp)
4g.6301233T=CA1435772946WFS1c.1474T= (p.Tyr492=)
c.1415T=
c.1438T= (p.Tyr480=)
c.1189T= (p.Tyr397=)
c.1097T= (p.Leu366=)
n.1623T=
c.1447T= (p.Tyr483=)
4g.6301234A=CA1435772948WFS1c.1475A= (p.Tyr492=)
c.1416A=
c.1439A= (p.Tyr480=)
c.1190A= (p.Tyr397=)
c.1098A= (p.Leu366=)
n.1624A=
c.1448A= (p.Tyr483=)
4g.6301234A>CCA356174958WFS1c.1475A>C (p.Tyr492Ser)
c.1416A>C
c.1439A>C (p.Tyr480Ser)
c.1190A>C (p.Tyr397Ser)
c.1098A>C (p.Leu366=)
n.1624A>C
c.1448A>C (p.Tyr483Ser)
4g.6301234A>GCA2839351WFS1c.1475A>G (p.Tyr492Cys)
c.1416A>G
c.1439A>G (p.Tyr480Cys)
c.1190A>G (p.Tyr397Cys)
c.1098A>G (p.Leu366=)
n.1624A>G
c.1448A>G (p.Tyr483Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.6301234A>TCA356174960WFS1c.1475A>T (p.Tyr492Phe)
c.1416A>T
c.1439A>T (p.Tyr480Phe)
c.1190A>T (p.Tyr397Phe)
c.1098A>T (p.Leu366=)
n.1624A>T
c.1448A>T (p.Tyr483Phe)
dbSNP gnomAD v3 gnomAD v4
4g.6301235C>ACA356174966WFS1c.1476C>A (p.Tyr492Ter)
c.1417C>A
c.1440C>A (p.Tyr480Ter)
c.1191C>A (p.Tyr397Ter)
c.1099C>A (p.Pro367Thr)
n.1625C>A
c.1449C>A (p.Tyr483Ter)
4g.6301235C=CA1435772951WFS1c.1476C= (p.Tyr492=)
c.1417C=
c.1440C= (p.Tyr480=)
c.1191C= (p.Tyr397=)
c.1099C= (p.Pro367=)
n.1625C=
c.1449C= (p.Tyr483=)
4g.6301235C>GCA356174964WFS1c.1476C>G (p.Tyr492Ter)
c.1417C>G
c.1440C>G (p.Tyr480Ter)
c.1191C>G (p.Tyr397Ter)
c.1099C>G (p.Pro367Ala)
n.1625C>G
c.1449C>G (p.Tyr483Ter)
4g.6301235C>TCA2839352WFS1c.1476C>T (p.Tyr492=)
c.1417C>T
c.1440C>T (p.Tyr480=)
c.1191C>T (p.Tyr397=)
c.1099C>T (p.Pro367Ser)
n.1625C>T
c.1449C>T (p.Tyr483=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301236C>ACA356174969WFS1c.1477C>A (p.Leu493Met)
c.1418C>A
c.1441C>A (p.Leu481Met)
c.1192C>A (p.Leu398Met)
c.1100C>A (p.Pro367His)
n.1626C>A
c.1450C>A (p.Leu484Met)
4g.6301236C=CA1435772959WFS1c.1477C= (p.Leu493=)
c.1418C=
c.1441C= (p.Leu481=)
c.1192C= (p.Leu398=)
c.1100C= (p.Pro367=)
n.1626C=
c.1450C= (p.Leu484=)
4g.6301236C>GCA356174971WFS1c.1477C>G (p.Leu493Val)
c.1418C>G
c.1441C>G (p.Leu481Val)
c.1192C>G (p.Leu398Val)
c.1100C>G (p.Pro367Arg)
n.1626C>G
c.1450C>G (p.Leu484Val)
4g.6301236C>TCA183802WFS1c.1477C>T (p.Leu493=)
c.1418C>T
c.1441C>T (p.Leu481=)
c.1192C>T (p.Leu398=)
c.1100C>T (p.Pro367Leu)
n.1626C>T
c.1450C>T (p.Leu484=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.6301236_6301242dupCA273296WFS1c.1477_1483dup (p.Val495AlafsTer?)
c.1418_1424dup
c.1441_1447dup (p.Val483AlafsTer?)
c.1192_1198dup (p.Val400AlafsTer?)
c.1100_1106dup (p.Pro370Ter)
n.1626_1632dup
c.1450_1456dup (p.Val486AlafsTer?)
ClinVar dbSNP
4g.6301237T>ACA356174973WFS1c.1478T>A (p.Leu493Gln)
c.1419T>A
c.1442T>A (p.Leu481Gln)
c.1193T>A (p.Leu398Gln)
c.1101T>A (p.Pro367=)
n.1627T>A
c.1451T>A (p.Leu484Gln)
gnomAD v4
4g.6301237T>CCA2839353WFS1c.1478T>C (p.Leu493Pro)
c.1419T>C
c.1442T>C (p.Leu481Pro)
c.1193T>C (p.Leu398Pro)
c.1101T>C (p.Pro367=)
n.1627T>C
c.1451T>C (p.Leu484Pro)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.6301237T>GCA356174974WFS1c.1478T>G (p.Leu493Arg)
c.1419T>G
c.1442T>G (p.Leu481Arg)
c.1193T>G (p.Leu398Arg)
c.1101T>G (p.Pro367=)
n.1627T>G
c.1451T>G (p.Leu484Arg)
gnomAD v4
4g.6301237T=CA1435772962WFS1c.1478T= (p.Leu493=)
c.1419T=
c.1442T= (p.Leu481=)
c.1193T= (p.Leu398=)
c.1101T= (p.Pro367=)
n.1627T=
c.1451T= (p.Leu484=)
4g.6301238G>ACA91796269WFS1c.1479G>A (p.Leu493=)
c.1420G>A
c.1443G>A (p.Leu481=)
c.1194G>A (p.Leu398=)
c.1102G>A (p.Glu368Lys)
n.1628G>A
c.1452G>A (p.Leu484=)
ClinVar dbSNP gnomAD v3 gnomAD v4
4g.6301238G>CCA438368943WFS1c.1479G>C (p.Leu493=)
c.1420G>C
c.1443G>C (p.Leu481=)
c.1194G>C (p.Leu398=)
c.1102G>C (p.Glu368Gln)
n.1628G>C
c.1452G>C (p.Leu484=)
4g.6301238G=CA1435772967WFS1c.1479G= (p.Leu493=)
c.1420G=
c.1443G= (p.Leu481=)
c.1194G= (p.Leu398=)
c.1102G= (p.Glu368=)
n.1628G=
c.1452G= (p.Leu484=)
4g.6301238G>TCA91796270WFS1c.1479G>T (p.Leu493=)
c.1420G>T
c.1443G>T (p.Leu481=)
c.1194G>T (p.Leu398=)
c.1102G>T (p.Glu368Ter)
n.1628G>T
c.1452G>T (p.Leu484=)
dbSNP gnomAD v4
4g.6301239A>CCA356174978WFS1c.1480A>C (p.Lys494Gln)
c.1421A>C
c.1444A>C (p.Lys482Gln)
c.1195A>C (p.Lys399Gln)
c.1103A>C (p.Glu368Ala)
n.1629A>C
c.1453A>C (p.Lys485Gln)
ClinVar dbSNP gnomAD v4
4g.6301239A>GCA356174979WFS1c.1480A>G (p.Lys494Glu)
c.1421A>G
c.1444A>G (p.Lys482Glu)
c.1195A>G (p.Lys399Glu)
c.1103A>G (p.Glu368Gly)
n.1629A>G
c.1453A>G (p.Lys485Glu)
gnomAD v4
4g.6301239A>TCA356174981WFS1c.1480A>T (p.Lys494Ter)
c.1421A>T
c.1444A>T (p.Lys482Ter)
c.1195A>T (p.Lys399Ter)
c.1103A>T (p.Glu368Val)
n.1629A>T
c.1453A>T (p.Lys485Ter)
4g.6301240A=CA1435772971WFS1c.1481A= (p.Lys494=)
c.1422A=
c.1445A= (p.Lys482=)
c.1196A= (p.Lys399=)
c.1104A= (p.Glu368=)
n.1630A=
c.1454A= (p.Lys485=)
4g.6301240A>CCA356174984WFS1c.1481A>C (p.Lys494Thr)
c.1422A>C
c.1445A>C (p.Lys482Thr)
c.1196A>C (p.Lys399Thr)
c.1104A>C (p.Glu368Asp)
n.1630A>C
c.1454A>C (p.Lys485Thr)
4g.6301240A>GCA91796271WFS1c.1481A>G (p.Lys494Arg)
c.1422A>G
c.1445A>G (p.Lys482Arg)
c.1196A>G (p.Lys399Arg)
c.1104A>G (p.Glu368=)
n.1630A>G
c.1454A>G (p.Lys485Arg)
dbSNP gnomAD v2 gnomAD v4
4g.6301240A>TCA356174986WFS1c.1481A>T (p.Lys494Met)
c.1422A>T
c.1445A>T (p.Lys482Met)
c.1196A>T (p.Lys399Met)
c.1104A>T (p.Glu368Asp)
n.1630A>T
c.1454A>T (p.Lys485Met)
4g.6301241G>ACA2839355WFS1c.1482G>A (p.Lys494=)
c.1423G>A
c.1446G>A (p.Lys482=)
c.1197G>A (p.Lys399=)
c.1105G>A (p.Gly369Ser)
n.1631G>A
c.1455G>A (p.Lys485=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301241G>CCA356174990WFS1c.1482G>C (p.Lys494Asn)
c.1423G>C
c.1446G>C (p.Lys482Asn)
c.1197G>C (p.Lys399Asn)
c.1105G>C (p.Gly369Arg)
n.1631G>C
c.1455G>C (p.Lys485Asn)
ClinVar dbSNP
4g.6301241G=CA1435772976WFS1c.1482G= (p.Lys494=)
c.1423G=
c.1446G= (p.Lys482=)
c.1197G= (p.Lys399=)
c.1105G= (p.Gly369=)
n.1631G=
c.1455G= (p.Lys485=)
4g.6301241G>TCA2839354WFS1c.1482G>T (p.Lys494Asn)
c.1423G>T
c.1446G>T (p.Lys482Asn)
c.1197G>T (p.Lys399Asn)
c.1105G>T (p.Gly369Cys)
n.1631G>T
c.1455G>T (p.Lys485Asn)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301242G>ACA356174992WFS1c.1483G>A (p.Val495Ile)
c.1424G>A
c.1447G>A (p.Val483Ile)
c.1198G>A (p.Val400Ile)
c.1106G>A (p.Gly369Asp)
n.1632G>A
c.1456G>A (p.Val486Ile)
gnomAD v4
4g.6301242G>CCA356174994WFS1c.1483G>C (p.Val495Leu)
c.1424G>C
c.1447G>C (p.Val483Leu)
c.1198G>C (p.Val400Leu)
c.1106G>C (p.Gly369Ala)
n.1632G>C
c.1456G>C (p.Val486Leu)
4g.6301242G>TCA356174997WFS1c.1483G>T (p.Val495Phe)
c.1424G>T
c.1447G>T (p.Val483Phe)
c.1198G>T (p.Val400Phe)
c.1106G>T (p.Gly369Val)
n.1632G>T
c.1456G>T (p.Val486Phe)
4g.6301243T>ACA356174999WFS1c.1484T>A (p.Val495Asp)
c.1425T>A
c.1448T>A (p.Val483Asp)
c.1199T>A (p.Val400Asp)
c.1107T>A (p.Gly369=)
n.1633T>A
c.1457T>A (p.Val486Asp)
4g.6301243T>CCA356175001WFS1c.1484T>C (p.Val495Ala)
c.1425T>C
c.1448T>C (p.Val483Ala)
c.1199T>C (p.Val400Ala)
c.1107T>C (p.Gly369=)
n.1633T>C
c.1457T>C (p.Val486Ala)
gnomAD v4
4g.6301243T>GCA356175003WFS1c.1484T>G (p.Val495Gly)
c.1425T>G
c.1448T>G (p.Val483Gly)
c.1199T>G (p.Val400Gly)
c.1107T>G (p.Gly369=)
n.1633T>G
c.1457T>G (p.Val486Gly)
gnomAD v4
4g.6301244C>ACA438368955WFS1c.1485C>A (p.Val495=)
c.1426C>A
c.1449C>A (p.Val483=)
c.1200C>A (p.Val400=)
c.1108C>A (p.Pro370Thr)
n.1634C>A
c.1458C>A (p.Val486=)
4g.6301244C=CA1435772982WFS1c.1485C= (p.Val495=)
c.1426C=
c.1449C= (p.Val483=)
c.1200C= (p.Val400=)
c.1108C= (p.Pro370=)
n.1634C=
c.1458C= (p.Val486=)
4g.6301244C>GCA438368956WFS1c.1485C>G (p.Val495=)
c.1426C>G
c.1449C>G (p.Val483=)
c.1200C>G (p.Val400=)
c.1108C>G (p.Pro370Ala)
n.1634C>G
c.1458C>G (p.Val486=)
dbSNP gnomAD v2 gnomAD v4
4g.6301244C>TCA438368957WFS1c.1485C>T (p.Val495=)
c.1426C>T
c.1449C>T (p.Val483=)
c.1200C>T (p.Val400=)
c.1108C>T (p.Pro370Ser)
n.1634C>T
c.1458C>T (p.Val486=)
4g.6301245C>ACA356175005WFS1c.1486C>A (p.Leu496Ile)
c.1427C>A
c.1450C>A (p.Leu484Ile)
c.1201C>A (p.Leu401Ile)
c.1109C>A (p.Pro370His)
n.1635C>A
c.1459C>A (p.Leu487Ile)
4g.6301245C=CA1435772985WFS1c.1486C= (p.Leu496=)
c.1427C=
c.1450C= (p.Leu484=)
c.1201C= (p.Leu401=)
c.1109C= (p.Pro370=)
n.1635C=
c.1459C= (p.Leu487=)
4g.6301245C>GCA356175007WFS1c.1486C>G (p.Leu496Val)
c.1427C>G
c.1450C>G (p.Leu484Val)
c.1201C>G (p.Leu401Val)
c.1109C>G (p.Pro370Arg)
n.1635C>G
c.1459C>G (p.Leu487Val)
4g.6301245C>TCA356175009WFS1c.1486C>T (p.Leu496Phe)
c.1427C>T
c.1450C>T (p.Leu484Phe)
c.1201C>T (p.Leu401Phe)
c.1109C>T (p.Pro370Leu)
n.1635C>T
c.1459C>T (p.Leu487Phe)
ClinVar dbSNP gnomAD v2 gnomAD v4
4g.6301245_6301246delCA2578035809WFS1c.1486_1487del (p.Leu496TrpfsTer?)
c.1427_1428del
c.1450_1451del (p.Leu484TrpfsTer?)
c.1201_1202del (p.Leu401TrpfsTer?)
c.1109_1110del (p.Pro370LeufsTer?)
n.1635_1636del
c.1459_1460del (p.Leu487TrpfsTer?)
4g.6301246T>ACA356175011WFS1c.1487T>A (p.Leu496His)
c.1428T>A
c.1451T>A (p.Leu484His)
c.1202T>A (p.Leu401His)
c.1110T>A (p.Pro370=)
n.1636T>A
c.1460T>A (p.Leu487His)
gnomAD v4
4g.6301246T>CCA2839356WFS1c.1487T>C (p.Leu496Pro)
c.1428T>C
c.1451T>C (p.Leu484Pro)
c.1202T>C (p.Leu401Pro)
c.1110T>C (p.Pro370=)
n.1636T>C
c.1460T>C (p.Leu487Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.6301246T>GCA356175014WFS1c.1487T>G (p.Leu496Arg)
c.1428T>G
c.1451T>G (p.Leu484Arg)
c.1202T>G (p.Leu401Arg)
c.1110T>G (p.Pro370=)
n.1636T>G
c.1460T>G (p.Leu487Arg)
4g.6301246T=CA1435772989WFS1c.1487T= (p.Leu496=)
c.1428T=
c.1451T= (p.Leu484=)
c.1202T= (p.Leu401=)
c.1110T= (p.Pro370=)
n.1636T=
c.1460T= (p.Leu487=)
4g.6301247_6301258dupCA2669843435WFS1c.1488_1499dup (p.Phe500_Ile501insGlyGlnThrPhe)
c.1429_1440dup
c.1452_1463dup (p.Phe488_Ile489insGlyGlnThrPhe)
c.1203_1214dup (p.Phe405_Ile406insGlyGlnThrPhe)
c.1111_1122dup (p.Leu374_His375insTrpProAspLeu)
n.1637_1648dup
c.1461_1472dup (p.Phe491_Ile492insGlyGlnThrPhe)
gnomAD v4
4g.6301247T>ACA438368961WFS1c.1488T>A (p.Leu496=)
c.1429T>A
c.1452T>A (p.Leu484=)
c.1203T>A (p.Leu401=)
c.1111T>A (p.Trp371Arg)
n.1637T>A
c.1461T>A (p.Leu487=)
4g.6301247T>CCA10586892WFS1c.1488T>C (p.Leu496=)
c.1429T>C
c.1452T>C (p.Leu484=)
c.1203T>C (p.Leu401=)
c.1111T>C (p.Trp371Arg)
n.1637T>C
c.1461T>C (p.Leu487=)
ClinVar dbSNP gnomAD v2 gnomAD v4
4g.6301247T>GCA2839357WFS1c.1488T>G (p.Leu496=)
c.1429T>G
c.1452T>G (p.Leu484=)
c.1203T>G (p.Leu401=)
c.1111T>G (p.Trp371Gly)
n.1637T>G
c.1461T>G (p.Leu487=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301247T=CA1435772993WFS1c.1488T= (p.Leu496=)
c.1429T=
c.1452T= (p.Leu484=)
c.1203T= (p.Leu401=)
c.1111T= (p.Trp371=)
n.1637T=
c.1461T= (p.Leu487=)
4g.6301248G>ACA356175018WFS1c.1489G>A (p.Gly497Ser)
c.1430G>A
c.1453G>A (p.Gly485Ser)
c.1204G>A (p.Gly402Ser)
c.1112G>A (p.Trp371Ter)
n.1638G>A
c.1462G>A (p.Gly488Ser)
ClinVar dbSNP gnomAD v4
4g.6301248G>CCA356175022WFS1c.1489G>C (p.Gly497Arg)
c.1430G>C
c.1453G>C (p.Gly485Arg)
c.1204G>C (p.Gly402Arg)
c.1112G>C (p.Trp371Ser)
n.1638G>C
c.1462G>C (p.Gly488Arg)
4g.6301248G=CA1435772998WFS1c.1489G= (p.Gly497=)
c.1430G=
c.1453G= (p.Gly485=)
c.1204G= (p.Gly402=)
c.1112G= (p.Trp371=)
n.1638G=
c.1462G= (p.Gly488=)
4g.6301248G>TCA356175020WFS1c.1489G>T (p.Gly497Cys)
c.1430G>T
c.1453G>T (p.Gly485Cys)
c.1204G>T (p.Gly402Cys)
c.1112G>T (p.Trp371Leu)
n.1638G>T
c.1462G>T (p.Gly488Cys)
dbSNP gnomAD v2 gnomAD v4
4g.6301249G>ACA356175024WFS1c.1490G>A (p.Gly497Asp)
c.1431G>A
c.1454G>A (p.Gly485Asp)
c.1205G>A (p.Gly402Asp)
c.1113G>A (p.Trp371Ter)
n.1639G>A
c.1463G>A (p.Gly488Asp)
dbSNP gnomAD v2 gnomAD v4
4g.6301249G>CCA356175028WFS1c.1490G>C (p.Gly497Ala)
c.1431G>C
c.1454G>C (p.Gly485Ala)
c.1205G>C (p.Gly402Ala)
c.1113G>C (p.Trp371Cys)
n.1639G>C
c.1463G>C (p.Gly488Ala)
4g.6301249G=CA1435772999WFS1c.1490G= (p.Gly497=)
c.1431G=
c.1454G= (p.Gly485=)
c.1205G= (p.Gly402=)
c.1113G= (p.Trp371=)
n.1639G=
c.1463G= (p.Gly488=)
4g.6301249G>TCA356175026WFS1c.1490G>T (p.Gly497Val)
c.1431G>T
c.1454G>T (p.Gly485Val)
c.1205G>T (p.Gly402Val)
c.1113G>T (p.Trp371Cys)
n.1639G>T
c.1463G>T (p.Gly488Val)
gnomAD v4
4g.6301250C>ACA438368969WFS1c.1491C>A (p.Gly497=)
c.1432C>A
c.1455C>A (p.Gly485=)
c.1206C>A (p.Gly402=)
c.1114C>A (p.Pro372Thr)
n.1640C>A
c.1464C>A (p.Gly488=)
gnomAD v4
4g.6301250C=CA1435773001WFS1c.1491C= (p.Gly497=)
c.1432C=
c.1455C= (p.Gly485=)
c.1206C= (p.Gly402=)
c.1114C= (p.Pro372=)
n.1640C=
c.1464C= (p.Gly488=)
4g.6301250C>GCA438368970WFS1c.1491C>G (p.Gly497=)
c.1432C>G
c.1455C>G (p.Gly485=)
c.1206C>G (p.Gly402=)
c.1114C>G (p.Pro372Ala)
n.1640C>G
c.1464C>G (p.Gly488=)
dbSNP gnomAD v2 gnomAD v4
4g.6301250C>TCA438368971WFS1c.1491C>T (p.Gly497=)
c.1432C>T
c.1455C>T (p.Gly485=)
c.1206C>T (p.Gly402=)
c.1114C>T (p.Pro372Ser)
n.1640C>T
c.1464C>T (p.Gly488=)
gnomAD v4
4g.6301251C>ACA356175031WFS1c.1492C>A (p.Gln498Lys)
c.1433C>A
c.1456C>A (p.Gln486Lys)
c.1207C>A (p.Gln403Lys)
c.1115C>A (p.Pro372Gln)
n.1641C>A
c.1465C>A (p.Gln489Lys)
4g.6301251C=CA1435773003WFS1c.1492C= (p.Gln498=)
c.1433C=
c.1456C= (p.Gln486=)
c.1207C= (p.Gln403=)
c.1115C= (p.Pro372=)
n.1641C=
c.1465C= (p.Gln489=)
4g.6301251C>GCA356175033WFS1c.1492C>G (p.Gln498Glu)
c.1433C>G
c.1456C>G (p.Gln486Glu)
c.1207C>G (p.Gln403Glu)
c.1115C>G (p.Pro372Arg)
n.1641C>G
c.1465C>G (p.Gln489Glu)
4g.6301251C>TCA356175032WFS1c.1492C>T (p.Gln498Ter)
c.1433C>T
c.1456C>T (p.Gln486Ter)
c.1207C>T (p.Gln403Ter)
c.1115C>T (p.Pro372Leu)
n.1641C>T
c.1465C>T (p.Gln489Ter)
ClinVar dbSNP gnomAD v3 gnomAD v4
4g.6301252A>CCA356175036WFS1c.1493A>C (p.Gln498Pro)
c.1434A>C
c.1457A>C (p.Gln486Pro)
c.1208A>C (p.Gln403Pro)
c.1116A>C (p.Pro372=)
n.1642A>C
c.1466A>C (p.Gln489Pro)
gnomAD v4
4g.6301252A>GCA356175040WFS1c.1493A>G (p.Gln498Arg)
c.1434A>G
c.1457A>G (p.Gln486Arg)
c.1208A>G (p.Gln403Arg)
c.1116A>G (p.Pro372=)
n.1642A>G
c.1466A>G (p.Gln489Arg)
gnomAD v4
4g.6301252A>TCA356175038WFS1c.1493A>T (p.Gln498Leu)
c.1434A>T
c.1457A>T (p.Gln486Leu)
c.1208A>T (p.Gln403Leu)
c.1116A>T (p.Pro372=)
n.1642A>T
c.1466A>T (p.Gln489Leu)
ClinVar dbSNP
4g.6301252_6301253insAGCA2578035814WFS1c.1493_1494insAG (p.Thr499GlyfsTer?)
c.1434_1435insAG
c.1457_1458insAG (p.Thr487GlyfsTer?)
c.1208_1209insAG (p.Thr404GlyfsTer?)
c.1116_1117insAG (p.Asp373ArgfsTer?)
n.1642_1643insAG
c.1466_1467insAG (p.Thr490GlyfsTer?)
4g.6301253G>ACA2839359WFS1c.1494G>A (p.Gln498=)
c.1435G>A
c.1458G>A (p.Gln486=)
c.1209G>A (p.Gln403=)
c.1117G>A (p.Asp373Asn)
n.1643G>A
c.1467G>A (p.Gln489=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301253G>CCA2839358WFS1c.1494G>C (p.Gln498His)
c.1435G>C
c.1458G>C (p.Gln486His)
c.1209G>C (p.Gln403His)
c.1117G>C (p.Asp373His)
n.1643G>C
c.1467G>C (p.Gln489His)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.6301253G=CA1435773006WFS1c.1494G= (p.Gln498=)
c.1435G=
c.1458G= (p.Gln486=)
c.1209G= (p.Gln403=)
c.1117G= (p.Asp373=)
n.1643G=
c.1467G= (p.Gln489=)
4g.6301253G>TCA356175043WFS1c.1494G>T (p.Gln498His)
c.1435G>T
c.1458G>T (p.Gln486His)
c.1209G>T (p.Gln403His)
c.1117G>T (p.Asp373Tyr)
n.1643G>T
c.1467G>T (p.Gln489His)
gnomAD v4
4g.6301254A=CA1435773009WFS1c.1495A= (p.Thr499=)
c.1436A=
c.1459A= (p.Thr487=)
c.1210A= (p.Thr404=)
c.1118A= (p.Asp373=)
n.1644A=
c.1468A= (p.Thr490=)
4g.6301254A>CCA356175044WFS1c.1495A>C (p.Thr499Pro)
c.1436A>C
c.1459A>C (p.Thr487Pro)
c.1210A>C (p.Thr404Pro)
c.1118A>C (p.Asp373Ala)
n.1644A>C
c.1468A>C (p.Thr490Pro)
4g.6301254A>GCA91796272WFS1c.1495A>G (p.Thr499Ala)
c.1436A>G
c.1459A>G (p.Thr487Ala)
c.1210A>G (p.Thr404Ala)
c.1118A>G (p.Asp373Gly)
n.1644A>G
c.1468A>G (p.Thr490Ala)
dbSNP gnomAD v3 gnomAD v4
4g.6301254A>TCA356175047WFS1c.1495A>T (p.Thr499Ser)
c.1436A>T
c.1459A>T (p.Thr487Ser)
c.1210A>T (p.Thr404Ser)
c.1118A>T (p.Asp373Val)
n.1644A>T
c.1468A>T (p.Thr490Ser)
4g.6301255C>ACA356175049WFS1c.1496C>A (p.Thr499Asn)
c.1437C>A
c.1460C>A (p.Thr487Asn)
c.1211C>A (p.Thr404Asn)
c.1119C>A (p.Asp373Glu)
n.1645C>A
c.1469C>A (p.Thr490Asn)
gnomAD v4
4g.6301255C=CA1435773015WFS1c.1496C= (p.Thr499=)
c.1437C=
c.1460C= (p.Thr487=)
c.1211C= (p.Thr404=)
c.1119C= (p.Asp373=)
n.1645C=
c.1469C= (p.Thr490=)
4g.6301255C>GCA2839360WFS1c.1496C>G (p.Thr499Ser)
c.1437C>G
c.1460C>G (p.Thr487Ser)
c.1211C>G (p.Thr404Ser)
c.1119C>G (p.Asp373Glu)
n.1645C>G
c.1469C>G (p.Thr490Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301255C>TCA2839361WFS1c.1496C>T (p.Thr499Ile)
c.1437C>T
c.1460C>T (p.Thr487Ile)
c.1211C>T (p.Thr404Ile)
c.1119C>T (p.Asp373=)
n.1645C>T
c.1469C>T (p.Thr490Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301256C>ACA438368976WFS1c.1497C>A (p.Thr499=)
c.1438C>A
c.1461C>A (p.Thr487=)
c.1212C>A (p.Thr404=)
c.1120C>A (p.Leu374Ile)
n.1646C>A
c.1470C>A (p.Thr490=)
4g.6301256C=CA1435773019WFS1c.1497C= (p.Thr499=)
c.1438C=
c.1461C= (p.Thr487=)
c.1212C= (p.Thr404=)
c.1120C= (p.Leu374=)
n.1646C=
c.1470C= (p.Thr490=)
4g.6301256C>GCA438368977WFS1c.1497C>G (p.Thr499=)
c.1438C>G
c.1461C>G (p.Thr487=)
c.1212C>G (p.Thr404=)
c.1120C>G (p.Leu374Val)
n.1646C>G
c.1470C>G (p.Thr490=)
gnomAD v4
4g.6301256C>TCA2839362WFS1c.1497C>T (p.Thr499=)
c.1438C>T
c.1461C>T (p.Thr487=)
c.1212C>T (p.Thr404=)
c.1120C>T (p.Leu374Phe)
n.1646C>T
c.1470C>T (p.Thr490=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.6301257_6301259delCA2580071770WFS1c.1498_1500del (p.Phe500del)
c.1439_1441del
c.1462_1464del (p.Phe488del)
c.1213_1215del (p.Phe405del)
c.1121_1123del (p.Leu374del)
n.1647_1649del
c.1471_1473del (p.Phe491del)
ClinVar
4g.6301257T>ACA356175054WFS1c.1498T>A (p.Phe500Ile)
c.1439T>A
c.1462T>A (p.Phe488Ile)
c.1213T>A (p.Phe405Ile)
c.1121T>A (p.Leu374His)
n.1647T>A
c.1471T>A (p.Phe491Ile)
4g.6301257T>CCA356175056WFS1c.1498T>C (p.Phe500Leu)
c.1439T>C
c.1462T>C (p.Phe488Leu)
c.1213T>C (p.Phe405Leu)
c.1121T>C (p.Leu374Pro)
n.1647T>C
c.1471T>C (p.Phe491Leu)
4g.6301257T>GCA356175058WFS1c.1498T>G (p.Phe500Val)
c.1439T>G
c.1462T>G (p.Phe488Val)
c.1213T>G (p.Phe405Val)
c.1121T>G (p.Leu374Arg)
n.1647T>G
c.1471T>G (p.Phe491Val)
4g.6301258delCA2669843436WFS1c.1499del (p.Phe500SerfsTer?)
c.1440del
c.1463del (p.Phe488SerfsTer?)
c.1214del (p.Phe405SerfsTer?)
c.1122del (p.His375IlefsTer?)
n.1648del
c.1472del (p.Phe491SerfsTer?)
gnomAD v4
4g.6301258T>ACA356175060WFS1c.1499T>A (p.Phe500Tyr)
c.1440T>A
c.1463T>A (p.Phe488Tyr)
c.1214T>A (p.Phe405Tyr)
c.1122T>A (p.Leu374=)
n.1648T>A
c.1472T>A (p.Phe491Tyr)
4g.6301258T>CCA356175065WFS1c.1499T>C (p.Phe500Ser)
c.1440T>C
c.1463T>C (p.Phe488Ser)
c.1214T>C (p.Phe405Ser)
c.1122T>C (p.Leu374=)
n.1648T>C
c.1472T>C (p.Phe491Ser)
dbSNP gnomAD v2
4g.6301258T>GCA356175063WFS1c.1499T>G (p.Phe500Cys)
c.1440T>G
c.1463T>G (p.Phe488Cys)
c.1214T>G (p.Phe405Cys)
c.1122T>G (p.Leu374=)
n.1648T>G
c.1472T>G (p.Phe491Cys)
4g.6301258T=CA1435773021WFS1c.1499T= (p.Phe500=)
c.1440T=
c.1463T= (p.Phe488=)
c.1214T= (p.Phe405=)
c.1122T= (p.Leu374=)
n.1648T=
c.1472T= (p.Phe491=)
4g.6301258_6301269dupCA2586973624WFS1c.1499_1510dup (p.Val503_Pro504insLeuIleThrVal)
c.1440_1451dup
c.1463_1474dup (p.Val491_Pro492insLeuIleThrVal)
c.1214_1225dup (p.Val408_Pro409insLeuIleThrVal)
c.1122_1133dup (p.Ala378_Cys379insHisHisArgAla)
n.1648_1659dup
c.1472_1483dup (p.Val494_Pro495insLeuIleThrVal)
4g.6301259C>ACA356175067WFS1c.1500C>A (p.Phe500Leu)
c.1441C>A
c.1464C>A (p.Phe488Leu)
c.1215C>A (p.Phe405Leu)
c.1123C>A (p.His375Asn)
n.1649C>A
c.1473C>A (p.Phe491Leu)
4g.6301259C=CA1435773023WFS1c.1500C= (p.Phe500=)
c.1441C=
c.1464C= (p.Phe488=)
c.1215C= (p.Phe405=)
c.1123C= (p.His375=)
n.1649C=
c.1473C= (p.Phe491=)
4g.6301259C>GCA356175069WFS1c.1500C>G (p.Phe500Leu)
c.1441C>G
c.1464C>G (p.Phe488Leu)
c.1215C>G (p.Phe405Leu)
c.1123C>G (p.His375Asp)
n.1649C>G
c.1473C>G (p.Phe491Leu)
4g.6301259C>TCA438368980WFS1c.1500C>T (p.Phe500=)
c.1441C>T
c.1464C>T (p.Phe488=)
c.1215C>T (p.Phe405=)
c.1123C>T (p.His375Tyr)
n.1649C>T
c.1473C>T (p.Phe491=)
dbSNP gnomAD v2 gnomAD v4
4g.6301260A=CA1435773025WFS1c.1501A= (p.Ile501=)
c.1442A=
c.1465A= (p.Ile489=)
c.1216A= (p.Ile406=)
c.1124A= (p.His375=)
n.1650A=
c.1474A= (p.Ile492=)
4g.6301260A>CCA356175070WFS1c.1501A>C (p.Ile501Leu)
c.1442A>C
c.1465A>C (p.Ile489Leu)
c.1216A>C (p.Ile406Leu)
c.1124A>C (p.His375Pro)
n.1650A>C
c.1474A>C (p.Ile492Leu)
gnomAD v4
4g.6301260A>GCA2839363WFS1c.1501A>G (p.Ile501Val)
c.1442A>G
c.1465A>G (p.Ile489Val)
c.1216A>G (p.Ile406Val)
c.1124A>G (p.His375Arg)
n.1650A>G
c.1474A>G (p.Ile492Val)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.6301260A>TCA356175073WFS1c.1501A>T (p.Ile501Phe)
c.1442A>T
c.1465A>T (p.Ile489Phe)
c.1216A>T (p.Ile406Phe)
c.1124A>T (p.His375Leu)
n.1650A>T
c.1474A>T (p.Ile492Phe)
4g.6301261T>ACA2839364WFS1c.1502T>A (p.Ile501Asn)
c.1443T>A
c.1466T>A (p.Ile489Asn)
c.1217T>A (p.Ile406Asn)
c.1125T>A (p.His375Gln)
n.1651T>A
c.1475T>A (p.Ile492Asn)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.6301261T>CCA356175076WFS1c.1502T>C (p.Ile501Thr)
c.1443T>C
c.1466T>C (p.Ile489Thr)
c.1217T>C (p.Ile406Thr)
c.1125T>C (p.His375=)
n.1651T>C
c.1475T>C (p.Ile492Thr)
dbSNP gnomAD v4
4g.6301261T>GCA356175078WFS1c.1502T>G (p.Ile501Ser)
c.1443T>G
c.1466T>G (p.Ile489Ser)
c.1217T>G (p.Ile406Ser)
c.1125T>G (p.His375Gln)
n.1651T>G
c.1475T>G (p.Ile492Ser)
4g.6301261T=CA1435773028WFS1c.1502T= (p.Ile501=)
c.1443T=
c.1466T= (p.Ile489=)
c.1217T= (p.Ile406=)
c.1125T= (p.His375=)
n.1651T=
c.1475T= (p.Ile492=)
4g.6301262C>ACA438368986WFS1c.1503C>A (p.Ile501=)
c.1444C>A
c.1467C>A (p.Ile489=)
c.1218C>A (p.Ile406=)
c.1126C>A (p.His376Asn)
n.1652C>A
c.1476C>A (p.Ile492=)
4g.6301262C=CA1435773035WFS1c.1503C= (p.Ile501=)
c.1444C=
c.1467C= (p.Ile489=)
c.1218C= (p.Ile406=)
c.1126C= (p.His376=)
n.1652C=
c.1476C= (p.Ile492=)
4g.6301262C>GCA2839365WFS1c.1503C>G (p.Ile501Met)
c.1444C>G
c.1467C>G (p.Ile489Met)
c.1218C>G (p.Ile406Met)
c.1126C>G (p.His376Asp)
n.1652C>G
c.1476C>G (p.Ile492Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301262C>TCA438368987WFS1c.1503C>T (p.Ile501=)
c.1444C>T
c.1467C>T (p.Ile489=)
c.1218C>T (p.Ile406=)
c.1126C>T (p.His376Tyr)
n.1652C>T
c.1476C>T (p.Ile492=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.6301263A=CA1435773039WFS1c.1504A= (p.Thr502=)
c.1445A=
c.1468A= (p.Thr490=)
c.1219A= (p.Thr407=)
c.1127A= (p.His376=)
n.1653A=
c.1477A= (p.Thr493=)
4g.6301263A>CCA356175086WFS1c.1504A>C (p.Thr502Pro)
c.1445A>C
c.1468A>C (p.Thr490Pro)
c.1219A>C (p.Thr407Pro)
c.1127A>C (p.His376Pro)
n.1653A>C
c.1477A>C (p.Thr493Pro)
gnomAD v4
4g.6301263A>GCA356175084WFS1c.1504A>G (p.Thr502Ala)
c.1445A>G
c.1468A>G (p.Thr490Ala)
c.1219A>G (p.Thr407Ala)
c.1127A>G (p.His376Arg)
n.1653A>G
c.1477A>G (p.Thr493Ala)
ClinVar dbSNP gnomAD v4
4g.6301263A>TCA356175082WFS1c.1504A>T (p.Thr502Ser)
c.1445A>T
c.1468A>T (p.Thr490Ser)
c.1219A>T (p.Thr407Ser)
c.1127A>T (p.His376Leu)
n.1653A>T
c.1477A>T (p.Thr493Ser)
4g.6301264C>ACA356175088WFS1c.1505C>A (p.Thr502Asn)
c.1446C>A
c.1469C>A (p.Thr490Asn)
c.1220C>A (p.Thr407Asn)
c.1128C>A (p.His376Gln)
n.1654C>A
c.1478C>A (p.Thr493Asn)
gnomAD v4
4g.6301264C=CA1435773042WFS1c.1505C= (p.Thr502=)
c.1446C=
c.1469C= (p.Thr490=)
c.1220C= (p.Thr407=)
c.1128C= (p.His376=)
n.1654C=
c.1478C= (p.Thr493=)
4g.6301264C>GCA356175090WFS1c.1505C>G (p.Thr502Ser)
c.1446C>G
c.1469C>G (p.Thr490Ser)
c.1220C>G (p.Thr407Ser)
c.1128C>G (p.His376Gln)
n.1654C>G
c.1478C>G (p.Thr493Ser)
gnomAD v4
4g.6301264C>TCA91796273WFS1c.1505C>T (p.Thr502Ile)
c.1446C>T
c.1469C>T (p.Thr490Ile)
c.1220C>T (p.Thr407Ile)
c.1128C>T (p.His376=)
n.1654C>T
c.1478C>T (p.Thr493Ile)
dbSNP gnomAD v2
4g.6301273_6301313delCA2669843437WFS1c.1514_1554del (p.Val505AlafsTer?)
c.1455_1495del
c.1478_1518del (p.Val493AlafsTer?)
c.1229_1269del (p.Val410AlafsTer?)
c.1137_1177del (p.Arg380SerfsTer15)
n.1663_1703del
c.1487_1527del (p.Val496AlafsTer?)
gnomAD v4
4g.6301265C>ACA438368989WFS1c.1506C>A (p.Thr502=)
c.1447C>A
c.1470C>A (p.Thr490=)
c.1221C>A (p.Thr407=)
c.1129C>A (p.Arg377Ser)
n.1655C>A
c.1479C>A (p.Thr493=)
4g.6301265C=CA1435773047WFS1c.1506C= (p.Thr502=)
c.1447C=
c.1470C= (p.Thr490=)
c.1221C= (p.Thr407=)
c.1129C= (p.Arg377=)
n.1655C=
c.1479C= (p.Thr493=)
4g.6301265C>GCA438368990WFS1c.1506C>G (p.Thr502=)
c.1447C>G
c.1470C>G (p.Thr490=)
c.1221C>G (p.Thr407=)
c.1129C>G (p.Arg377Gly)
n.1655C>G
c.1479C>G (p.Thr493=)
4g.6301265C>TCA182620WFS1c.1506C>T (p.Thr502=)
c.1447C>T
c.1470C>T (p.Thr490=)
c.1221C>T (p.Thr407=)
c.1129C>T (p.Arg377Cys)
n.1655C>T
c.1479C>T (p.Thr493=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301266G>ACA2839366WFS1c.1507G>A (p.Val503Met)
c.1448G>A
c.1471G>A (p.Val491Met)
c.1222G>A (p.Val408Met)
c.1130G>A (p.Arg377His)
n.1656G>A
c.1480G>A (p.Val494Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301266G>CCA356175096WFS1c.1507G>C (p.Val503Leu)
c.1448G>C
c.1471G>C (p.Val491Leu)
c.1222G>C (p.Val408Leu)
c.1130G>C (p.Arg377Pro)
n.1656G>C
c.1480G>C (p.Val494Leu)
4g.6301266G=CA1435773050WFS1c.1507G= (p.Val503=)
c.1448G=
c.1471G= (p.Val491=)
c.1222G= (p.Val408=)
c.1130G= (p.Arg377=)
n.1656G=
c.1480G= (p.Val494=)
4g.6301266G>TCA356175098WFS1c.1507G>T (p.Val503Leu)
c.1448G>T
c.1471G>T (p.Val491Leu)
c.1222G>T (p.Val408Leu)
c.1130G>T (p.Arg377Leu)
n.1656G>T
c.1480G>T (p.Val494Leu)
dbSNP gnomAD v3 gnomAD v4
4g.6301267T>ACA356175100WFS1c.1508T>A (p.Val503Glu)
c.1449T>A
c.1472T>A (p.Val491Glu)
c.1223T>A (p.Val408Glu)
c.1131T>A (p.Arg377=)
n.1657T>A
c.1481T>A (p.Val494Glu)
4g.6301267T>CCA356175102WFS1c.1508T>C (p.Val503Ala)
c.1449T>C
c.1472T>C (p.Val491Ala)
c.1223T>C (p.Val408Ala)
c.1131T>C (p.Arg377=)
n.1657T>C
c.1481T>C (p.Val494Ala)
4g.6301267T>GCA356175104WFS1c.1508T>G (p.Val503Gly)
c.1449T>G
c.1472T>G (p.Val491Gly)
c.1223T>G (p.Val408Gly)
c.1131T>G (p.Arg377=)
n.1657T>G
c.1481T>G (p.Val494Gly)
4g.6301268G>ACA438368992WFS1c.1509G>A (p.Val503=)
c.1450G>A
c.1473G>A (p.Val491=)
c.1224G>A (p.Val408=)
c.1132G>A (p.Ala378Thr)
n.1658G>A
c.1482G>A (p.Val494=)
gnomAD v4
4g.6301268G>CCA438368993WFS1c.1509G>C (p.Val503=)
c.1450G>C
c.1473G>C (p.Val491=)
c.1224G>C (p.Val408=)
c.1132G>C (p.Ala378Pro)
n.1658G>C
c.1482G>C (p.Val494=)
4g.6301268G>TCA438368994WFS1c.1509G>T (p.Val503=)
c.1450G>T
c.1473G>T (p.Val491=)
c.1224G>T (p.Val408=)
c.1132G>T (p.Ala378Ser)
n.1658G>T
c.1482G>T (p.Val494=)
gnomAD v4
4g.6301269C>ACA356175106WFS1c.1510C>A (p.Pro504Thr)
c.1451C>A
c.1474C>A (p.Pro492Thr)
c.1225C>A (p.Pro409Thr)
c.1133C>A (p.Ala378Asp)
n.1659C>A
c.1483C>A (p.Pro495Thr)
4g.6301269C>GCA356175107WFS1c.1510C>G (p.Pro504Ala)
c.1451C>G
c.1474C>G (p.Pro492Ala)
c.1225C>G (p.Pro409Ala)
c.1133C>G (p.Ala378Gly)
n.1659C>G
c.1483C>G (p.Pro495Ala)
gnomAD v4
4g.6301269C>TCA356175109WFS1c.1510C>T (p.Pro504Ser)
c.1451C>T
c.1474C>T (p.Pro492Ser)
c.1225C>T (p.Pro409Ser)
c.1133C>T (p.Ala378Val)
n.1659C>T
c.1483C>T (p.Pro495Ser)
4g.6301270C>ACA356175111WFS1c.1511C>A (p.Pro504His)
c.1452C>A
c.1475C>A (p.Pro492His)
c.1226C>A (p.Pro409His)
c.1134C>A (p.Ala378=)
n.1660C>A
c.1484C>A (p.Pro495His)
gnomAD v4
4g.6301270C>GCA356175114WFS1c.1511C>G (p.Pro504Arg)
c.1452C>G
c.1475C>G (p.Pro492Arg)
c.1226C>G (p.Pro409Arg)
c.1134C>G (p.Ala378=)
n.1660C>G
c.1484C>G (p.Pro495Arg)
gnomAD v4
4g.6301270C>TCA356175113WFS1c.1511C>T (p.Pro504Leu)
c.1452C>T
c.1475C>T (p.Pro492Leu)
c.1226C>T (p.Pro409Leu)
c.1134C>T (p.Ala378=)
n.1660C>T
c.1484C>T (p.Pro495Leu)
4g.6301271T>ACA438368999WFS1c.1512T>A (p.Pro504=)
c.1453T>A
c.1476T>A (p.Pro492=)
c.1227T>A (p.Pro409=)
c.1135T>A (p.Cys379Ser)
n.1661T>A
c.1485T>A (p.Pro495=)
4g.6301271T>CCA438369000WFS1c.1512T>C (p.Pro504=)
c.1453T>C
c.1476T>C (p.Pro492=)
c.1227T>C (p.Pro409=)
c.1135T>C (p.Cys379Arg)
n.1661T>C
c.1485T>C (p.Pro495=)
ClinVar dbSNP gnomAD v4
4g.6301271T>GCA438369001WFS1c.1512T>G (p.Pro504=)
c.1453T>G
c.1476T>G (p.Pro492=)
c.1227T>G (p.Pro409=)
c.1135T>G (p.Cys379Gly)
n.1661T>G
c.1485T>G (p.Pro495=)
4g.6301271T=CA1435773054WFS1c.1512T= (p.Pro504=)
c.1453T=
c.1476T= (p.Pro492=)
c.1227T= (p.Pro409=)
c.1135T= (p.Cys379=)
n.1661T=
c.1485T= (p.Pro495=)
4g.6301272G>ACA356175115WFS1c.1513G>A (p.Val505Ile)
c.1454G>A
c.1477G>A (p.Val493Ile)
c.1228G>A (p.Val410Ile)
c.1136G>A (p.Cys379Tyr)
n.1662G>A
c.1486G>A (p.Val496Ile)
gnomAD v3 gnomAD v4
4g.6301272G>CCA356175117WFS1c.1513G>C (p.Val505Leu)
c.1454G>C
c.1477G>C (p.Val493Leu)
c.1228G>C (p.Val410Leu)
c.1136G>C (p.Cys379Ser)
n.1662G>C
c.1486G>C (p.Val496Leu)
dbSNP
4g.6301272G=CA1435773058WFS1c.1513G= (p.Val505=)
c.1454G=
c.1477G= (p.Val493=)
c.1228G= (p.Val410=)
c.1136G= (p.Cys379=)
n.1662G=
c.1486G= (p.Val496=)
4g.6301272G>TCA356175119WFS1c.1513G>T (p.Val505Phe)
c.1454G>T
c.1477G>T (p.Val493Phe)
c.1228G>T (p.Val410Phe)
c.1136G>T (p.Cys379Phe)
n.1662G>T
c.1486G>T (p.Val496Phe)
gnomAD v4
4g.6301273T>ACA356175121WFS1c.1514T>A (p.Val505Asp)
c.1455T>A
c.1478T>A (p.Val493Asp)
c.1229T>A (p.Val410Asp)
c.1137T>A (p.Cys379Ter)
n.1663T>A
c.1487T>A (p.Val496Asp)
4g.6301273T>CCA2839367WFS1c.1514T>C (p.Val505Ala)
c.1455T>C
c.1478T>C (p.Val493Ala)
c.1229T>C (p.Val410Ala)
c.1137T>C (p.Cys379=)
n.1663T>C
c.1487T>C (p.Val496Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301273T>GCA356175124WFS1c.1514T>G (p.Val505Gly)
c.1455T>G
c.1478T>G (p.Val493Gly)
c.1229T>G (p.Val410Gly)
c.1137T>G (p.Cys379Trp)
n.1663T>G
c.1487T>G (p.Val496Gly)
4g.6301273T=CA1435773062WFS1c.1514T= (p.Val505=)
c.1455T=
c.1478T= (p.Val493=)
c.1229T= (p.Val410=)
c.1137T= (p.Cys379=)
n.1663T=
c.1487T= (p.Val496=)
4g.6301274C>ACA438369008WFS1c.1515C>A (p.Val505=)
c.1456C>A
c.1479C>A (p.Val493=)
c.1230C>A (p.Val410=)
c.1138C>A (p.Arg380=)
n.1664C>A
c.1488C>A (p.Val496=)
ClinVar dbSNP
4g.6301274C=CA1435773067WFS1c.1515C= (p.Val505=)
c.1456C=
c.1479C= (p.Val493=)
c.1230C= (p.Val410=)
c.1138C= (p.Arg380=)
n.1664C=
c.1488C= (p.Val496=)
4g.6301274C>GCA438369007WFS1c.1515C>G (p.Val505=)
c.1456C>G
c.1479C>G (p.Val493=)
c.1230C>G (p.Val410=)
c.1138C>G (p.Arg380Gly)
n.1664C>G
c.1488C>G (p.Val496=)
4g.6301274C>TCA2839368WFS1c.1515C>T (p.Val505=)
c.1456C>T
c.1479C>T (p.Val493=)
c.1230C>T (p.Val410=)
c.1138C>T (p.Arg380Trp)
n.1664C>T
c.1488C>T (p.Val496=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301275G>ACA2839369WFS1c.1516G>A (p.Gly506Ser)
c.1457G>A
c.1480G>A (p.Gly494Ser)
c.1231G>A (p.Gly411Ser)
c.1139G>A (p.Arg380Gln)
n.1665G>A
c.1489G>A (p.Gly497Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301275G>CCA356175128WFS1c.1516G>C (p.Gly506Arg)
c.1457G>C
c.1480G>C (p.Gly494Arg)
c.1231G>C (p.Gly411Arg)
c.1139G>C (p.Arg380Pro)
n.1665G>C
c.1489G>C (p.Gly497Arg)
dbSNP gnomAD v2 gnomAD v4
4g.6301275G=CA1435773073WFS1c.1516G= (p.Gly506=)
c.1457G=
c.1480G= (p.Gly494=)
c.1231G= (p.Gly411=)
c.1139G= (p.Arg380=)
n.1665G=
c.1489G= (p.Gly497=)
4g.6301275G>TCA356175131WFS1c.1516G>T (p.Gly506Cys)
c.1457G>T
c.1480G>T (p.Gly494Cys)
c.1231G>T (p.Gly411Cys)
c.1139G>T (p.Arg380Leu)
n.1665G>T
c.1489G>T (p.Gly497Cys)
ClinVar
4g.6301276G>ACA356175136WFS1c.1517G>A (p.Gly506Asp)
c.1458G>A
c.1481G>A (p.Gly494Asp)
c.1232G>A (p.Gly411Asp)
c.1140G>A (p.Arg380=)
n.1666G>A
c.1490G>A (p.Gly497Asp)
gnomAD v4
4g.6301276G>CCA356175135WFS1c.1517G>C (p.Gly506Ala)
c.1458G>C
c.1481G>C (p.Gly494Ala)
c.1232G>C (p.Gly411Ala)
c.1140G>C (p.Arg380=)
n.1666G>C
c.1490G>C (p.Gly497Ala)
4g.6301276G=CA1435773075WFS1c.1517G= (p.Gly506=)
c.1458G=
c.1481G= (p.Gly494=)
c.1232G= (p.Gly411=)
c.1140G= (p.Arg380=)
n.1666G=
c.1490G= (p.Gly497=)
4g.6301276G>TCA356175133WFS1c.1517G>T (p.Gly506Val)
c.1458G>T
c.1481G>T (p.Gly494Val)
c.1232G>T (p.Gly411Val)
c.1140G>T (p.Arg380=)
n.1666G>T
c.1490G>T (p.Gly497Val)
dbSNP gnomAD v2 gnomAD v4
4g.6301277C>ACA438369015WFS1c.1518C>A (p.Gly506=)
c.1459C>A
c.1482C>A (p.Gly494=)
c.1233C>A (p.Gly411=)
c.1141C>A (p.Pro381Thr)
n.1667C>A
c.1491C>A (p.Gly497=)
dbSNP
4g.6301277C=CA1435773078WFS1c.1518C= (p.Gly506=)
c.1459C=
c.1482C= (p.Gly494=)
c.1233C= (p.Gly411=)
c.1141C= (p.Pro381=)
n.1667C=
c.1491C= (p.Gly497=)
4g.6301277C>GCA438369014WFS1c.1518C>G (p.Gly506=)
c.1459C>G
c.1482C>G (p.Gly494=)
c.1233C>G (p.Gly411=)
c.1141C>G (p.Pro381Ala)
n.1667C>G
c.1491C>G (p.Gly497=)
dbSNP
4g.6301277C>TCA438369013WFS1c.1518C>T (p.Gly506=)
c.1459C>T
c.1482C>T (p.Gly494=)
c.1233C>T (p.Gly411=)
c.1141C>T (p.Pro381Ser)
n.1667C>T
c.1491C>T (p.Gly497=)
gnomAD v4
4g.6301278C>ACA356175138WFS1c.1519C>A (p.His507Asn)
c.1460C>A
c.1483C>A (p.His495Asn)
c.1234C>A (p.His412Asn)
c.1142C>A (p.Pro381Gln)
n.1668C>A
c.1492C>A (p.His498Asn)
4g.6301278C=CA1435773081WFS1c.1519C= (p.His507=)
c.1460C=
c.1483C= (p.His495=)
c.1234C= (p.His412=)
c.1142C= (p.Pro381=)
n.1668C=
c.1492C= (p.His498=)
4g.6301278C>GCA2839371WFS1c.1519C>G (p.His507Asp)
c.1460C>G
c.1483C>G (p.His495Asp)
c.1234C>G (p.His412Asp)
c.1142C>G (p.Pro381Arg)
n.1668C>G
c.1492C>G (p.His498Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.6301278C>TCA2839370WFS1c.1519C>T (p.His507Tyr)
c.1460C>T
c.1483C>T (p.His495Tyr)
c.1234C>T (p.His412Tyr)
c.1142C>T (p.Pro381Leu)
n.1668C>T
c.1492C>T (p.His498Tyr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.6301279A>CCA356175142WFS1c.1520A>C (p.His507Pro)
c.1461A>C
c.1484A>C (p.His495Pro)
c.1235A>C (p.His412Pro)
c.1143A>C (p.Pro381=)
n.1669A>C
c.1493A>C (p.His498Pro)
4g.6301279A>GCA356175144WFS1c.1520A>G (p.His507Arg)
c.1461A>G
c.1484A>G (p.His495Arg)
c.1235A>G (p.His412Arg)
c.1143A>G (p.Pro381=)
n.1669A>G
c.1493A>G (p.His498Arg)
4g.6301279A>TCA356175146WFS1c.1520A>T (p.His507Leu)
c.1461A>T
c.1484A>T (p.His495Leu)
c.1235A>T (p.His412Leu)
c.1143A>T (p.Pro381=)
n.1669A>T
c.1493A>T (p.His498Leu)
4g.6301280C>ACA356175148WFS1c.1521C>A (p.His507Gln)
c.1462C>A
c.1485C>A (p.His495Gln)
c.1236C>A (p.His412Gln)
c.1144C>A (p.Pro382Thr)
n.1670C>A
c.1494C>A (p.His498Gln)
4g.6301280C=CA1435773086WFS1c.1521C= (p.His507=)
c.1462C=
c.1485C= (p.His495=)
c.1236C= (p.His412=)
c.1144C= (p.Pro382=)
n.1670C=
c.1494C= (p.His498=)
4g.6301280C>GCA91796274WFS1c.1521C>G (p.His507Gln)
c.1462C>G
c.1485C>G (p.His495Gln)
c.1236C>G (p.His412Gln)
c.1144C>G (p.Pro382Ala)
n.1670C>G
c.1494C>G (p.His498Gln)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.6301280C>TCA2839372WFS1c.1521C>T (p.His507=)
c.1462C>T
c.1485C>T (p.His495=)
c.1236C>T (p.His412=)
c.1144C>T (p.Pro382Ser)
n.1670C>T
c.1494C>T (p.His498=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301281C>ACA2839373WFS1c.1522C>A (p.Leu508Met)
c.1463C>A
c.1486C>A (p.Leu496Met)
c.1237C>A (p.Leu413Met)
c.1145C>A (p.Pro382His)
n.1671C>A
c.1495C>A (p.Leu499Met)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301281C=CA1435773092WFS1c.1522C= (p.Leu508=)
c.1463C=
c.1486C= (p.Leu496=)
c.1237C= (p.Leu413=)
c.1145C= (p.Pro382=)
n.1671C=
c.1495C= (p.Leu499=)
4g.6301281C>GCA356175151WFS1c.1522C>G (p.Leu508Val)
c.1463C>G
c.1486C>G (p.Leu496Val)
c.1237C>G (p.Leu413Val)
c.1145C>G (p.Pro382Arg)
n.1671C>G
c.1495C>G (p.Leu499Val)
4g.6301281C>TCA438369022WFS1c.1522C>T (p.Leu508=)
c.1463C>T
c.1486C>T (p.Leu496=)
c.1237C>T (p.Leu413=)
c.1145C>T (p.Pro382Leu)
n.1671C>T
c.1495C>T (p.Leu499=)
4g.6301282T>ACA356175153WFS1c.1523T>A (p.Leu508Gln)
c.1464T>A
c.1487T>A (p.Leu496Gln)
c.1238T>A (p.Leu413Gln)
c.1146T>A (p.Pro382=)
n.1672T>A
c.1496T>A (p.Leu499Gln)
4g.6301282T>CCA356175154WFS1c.1523T>C (p.Leu508Pro)
c.1464T>C
c.1487T>C (p.Leu496Pro)
c.1238T>C (p.Leu413Pro)
c.1146T>C (p.Pro382=)
n.1672T>C
c.1496T>C (p.Leu499Pro)
gnomAD v4
4g.6301282T>GCA356175156WFS1c.1523T>G (p.Leu508Arg)
c.1464T>G
c.1487T>G (p.Leu496Arg)
c.1238T>G (p.Leu413Arg)
c.1146T>G (p.Pro382=)
n.1672T>G
c.1496T>G (p.Leu499Arg)
gnomAD v4
4g.6301283G>ACA438369026WFS1c.1524G>A (p.Leu508=)
c.1465G>A
c.1488G>A (p.Leu496=)
c.1239G>A (p.Leu413=)
c.1147G>A (p.Gly383Ser)
n.1673G>A
c.1497G>A (p.Leu499=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.6301283G>CCA438369028WFS1c.1524G>C (p.Leu508=)
c.1465G>C
c.1488G>C (p.Leu496=)
c.1239G>C (p.Leu413=)
c.1147G>C (p.Gly383Arg)
n.1673G>C
c.1497G>C (p.Leu499=)
gnomAD v3 gnomAD v4
4g.6301283G=CA1435773096WFS1c.1524G= (p.Leu508=)
c.1465G=
c.1488G= (p.Leu496=)
c.1239G= (p.Leu413=)
c.1147G= (p.Gly383=)
n.1673G=
c.1497G= (p.Leu499=)
4g.6301283G>TCA438369029WFS1c.1524G>T (p.Leu508=)
c.1465G>T
c.1488G>T (p.Leu496=)
c.1239G>T (p.Leu413=)
c.1147G>T (p.Gly383Cys)
n.1673G>T
c.1497G>T (p.Leu499=)
gnomAD v4
4g.6301284delCA2669843438WFS1c.1525del (p.Val509SerfsTer25)
c.1466del
c.1489del (p.Val497SerfsTer25)
c.1240del (p.Val414SerfsTer25)
c.1148del (p.Gly383ValfsTer?)
n.1674del
c.1498del (p.Val500SerfsTer25)
gnomAD v4
4g.6301283_6301286delinsGGTCCA1435773097WFS1c.1524_1527delinsGGTC (p.Leu508=)
c.1465_1468delinsGGTC
c.1488_1491delinsGGTC (p.Leu496=)
c.1239_1242delinsGGTC (p.Leu413=)
c.1147_1150delinsGGTC (p.Gly383=)
n.1673_1676delinsGGTC
c.1497_1500delinsGGTC (p.Leu499=)
4g.6301284G>ACA356175161WFS1c.1525G>A (p.Val509Ile)
c.1466G>A
c.1489G>A (p.Val497Ile)
c.1240G>A (p.Val414Ile)
c.1148G>A (p.Gly383Asp)
n.1674G>A
c.1498G>A (p.Val500Ile)
gnomAD v4
4g.6301284G>CCA2839374WFS1c.1525G>C (p.Val509Leu)
c.1466G>C
c.1489G>C (p.Val497Leu)
c.1240G>C (p.Val414Leu)
c.1148G>C (p.Gly383Ala)
n.1674G>C
c.1498G>C (p.Val500Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.6301284G=CA1435773100WFS1c.1525G= (p.Val509=)
c.1466G=
c.1489G= (p.Val497=)
c.1240G= (p.Val414=)
c.1148G= (p.Gly383=)
n.1674G=
c.1498G= (p.Val500=)
4g.6301284G>TCA356175158WFS1c.1525G>T (p.Val509Phe)
c.1466G>T
c.1489G>T (p.Val497Phe)
c.1240G>T (p.Val414Phe)
c.1148G>T (p.Gly383Val)
n.1674G>T
c.1498G>T (p.Val500Phe)
gnomAD v4
4g.6301287_6301289delCA549707917WFS1c.1528_1530del (p.Val510del)
c.1469_1471del
c.1492_1494del (p.Val498del)
c.1243_1245del (p.Val415del)
c.1151_1153del (p.Arg384del)
n.1677_1679del
c.1501_1503del (p.Val501del)
dbSNP gnomAD v2 gnomAD v4
4g.6301285T>ACA356175163WFS1c.1526T>A (p.Val509Asp)
c.1467T>A
c.1490T>A (p.Val497Asp)
c.1241T>A (p.Val414Asp)
c.1149T>A (p.Gly383=)
n.1675T>A
c.1499T>A (p.Val500Asp)
4g.6301285T>CCA356175166WFS1c.1526T>C (p.Val509Ala)
c.1467T>C
c.1490T>C (p.Val497Ala)
c.1241T>C (p.Val414Ala)
c.1149T>C (p.Gly383=)
n.1675T>C
c.1499T>C (p.Val500Ala)
dbSNP gnomAD v3 gnomAD v4
4g.6301285T>GCA356175168WFS1c.1526T>G (p.Val509Gly)
c.1467T>G
c.1490T>G (p.Val497Gly)
c.1241T>G (p.Val414Gly)
c.1149T>G (p.Gly383=)
n.1675T>G
c.1499T>G (p.Val500Gly)
4g.6301285T=CA1435773104WFS1c.1526T= (p.Val509=)
c.1467T=
c.1490T= (p.Val497=)
c.1241T= (p.Val414=)
c.1149T= (p.Gly383=)
n.1675T=
c.1499T= (p.Val500=)
4g.6301286C>ACA438369034WFS1c.1527C>A (p.Val509=)
c.1468C>A
c.1491C>A (p.Val497=)
c.1242C>A (p.Val414=)
c.1150C>A (p.Arg384Ser)
n.1676C>A
c.1500C>A (p.Val500=)
gnomAD v4
4g.6301286C=CA1435773110WFS1c.1527C= (p.Val509=)
c.1468C=
c.1491C= (p.Val497=)
c.1242C= (p.Val414=)
c.1150C= (p.Arg384=)
n.1676C=
c.1500C= (p.Val500=)
4g.6301286C>GCA438369036WFS1c.1527C>G (p.Val509=)
c.1468C>G
c.1491C>G (p.Val497=)
c.1242C>G (p.Val414=)
c.1150C>G (p.Arg384Gly)
n.1676C>G
c.1500C>G (p.Val500=)
4g.6301286C>TCA295572WFS1c.1527C>T (p.Val509=)
c.1468C>T
c.1491C>T (p.Val497=)
c.1242C>T (p.Val414=)
c.1150C>T (p.Arg384Cys)
n.1676C>T
c.1500C>T (p.Val500=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301286_6301287insTCA2580071771WFS1c.1527_1528insT (p.Val510CysfsTer?)
c.1468_1469insT
c.1491_1492insT (p.Val498CysfsTer?)
c.1242_1243insT (p.Val415CysfsTer?)
c.1150_1151insT (p.Arg384LeufsTer25)
n.1676_1677insT
c.1500_1501insT (p.Val501CysfsTer?)
ClinVar
4g.6301287G>ACA2839375WFS1c.1528G>A (p.Val510Ile)
c.1469G>A
c.1492G>A (p.Val498Ile)
c.1243G>A (p.Val415Ile)
c.1151G>A (p.Arg384His)
n.1677G>A
c.1501G>A (p.Val501Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.6301287G>CCA356175169WFS1c.1528G>C (p.Val510Leu)
c.1469G>C
c.1492G>C (p.Val498Leu)
c.1243G>C (p.Val415Leu)
c.1151G>C (p.Arg384Pro)
n.1677G>C
c.1501G>C (p.Val501Leu)
ClinVar dbSNP
4g.6301287G=CA1435773115WFS1c.1528G= (p.Val510=)
c.1469G=
c.1492G= (p.Val498=)
c.1243G= (p.Val415=)
c.1151G= (p.Arg384=)
n.1677G=
c.1501G= (p.Val501=)
4g.6301287G>TCA356175170WFS1c.1528G>T (p.Val510Phe)
c.1469G>T
c.1492G>T (p.Val498Phe)
c.1243G>T (p.Val415Phe)
c.1151G>T (p.Arg384Leu)
n.1677G>T
c.1501G>T (p.Val501Phe)
gnomAD v4
4g.6301287_6301290delinsGTCCCA1435773116WFS1c.1528_1531delinsGTCC (p.Val510=)
c.1469_1472delinsGTCC
c.1492_1495delinsGTCC (p.Val498=)
c.1243_1246delinsGTCC (p.Val415=)
c.1151_1154delinsGTCC (p.Arg384=)
n.1677_1680delinsGTCC
c.1501_1504delinsGTCC (p.Val501=)
4g.6301288T>ACA356175173WFS1c.1529T>A (p.Val510Asp)
c.1470T>A
c.1493T>A (p.Val498Asp)
c.1244T>A (p.Val415Asp)
c.1152T>A (p.Arg384=)
n.1678T>A
c.1502T>A (p.Val501Asp)
4g.6301288T>CCA356175174WFS1c.1529T>C (p.Val510Ala)
c.1470T>C
c.1493T>C (p.Val498Ala)
c.1244T>C (p.Val415Ala)
c.1152T>C (p.Arg384=)
n.1678T>C
c.1502T>C (p.Val501Ala)
4g.6301288T>GCA356175176WFS1c.1529T>G (p.Val510Gly)
c.1470T>G
c.1493T>G (p.Val498Gly)
c.1244T>G (p.Val415Gly)
c.1152T>G (p.Arg384=)
n.1678T>G
c.1502T>G (p.Val501Gly)
4g.6301290_6301292delCA2839376WFS1c.1531_1533del (p.Leu511del)
c.1472_1474del
c.1495_1497del (p.Leu499del)
c.1246_1248del (p.Leu416del)
c.1154_1156del (p.Pro385del)
n.1680_1682del
c.1504_1506del (p.Leu502del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301289C>ACA438369045WFS1c.1530C>A (p.Val510=)
c.1471C>A
c.1494C>A (p.Val498=)
c.1245C>A (p.Val415=)
c.1153C>A (p.Pro385Thr)
n.1679C>A
c.1503C>A (p.Val501=)
4g.6301289C=CA1435773119WFS1c.1530C= (p.Val510=)
c.1471C=
c.1494C= (p.Val498=)
c.1245C= (p.Val415=)
c.1153C= (p.Pro385=)
n.1679C=
c.1503C= (p.Val501=)
4g.6301289C>GCA438369044WFS1c.1530C>G (p.Val510=)
c.1471C>G
c.1494C>G (p.Val498=)
c.1245C>G (p.Val415=)
c.1153C>G (p.Pro385Ala)
n.1679C>G
c.1503C>G (p.Val501=)
dbSNP
4g.6301289C>TCA2839377WFS1c.1530C>T (p.Val510=)
c.1471C>T
c.1494C>T (p.Val498=)
c.1245C>T (p.Val415=)
c.1153C>T (p.Pro385Ser)
n.1679C>T
c.1503C>T (p.Val501=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301290C>ACA356175182WFS1c.1531C>A (p.Leu511Ile)
c.1472C>A
c.1495C>A (p.Leu499Ile)
c.1246C>A (p.Leu416Ile)
c.1154C>A (p.Pro385His)
n.1680C>A
c.1504C>A (p.Leu502Ile)
ClinVar dbSNP
4g.6301290C=CA1435773124WFS1c.1531C= (p.Leu511=)
c.1472C=
c.1495C= (p.Leu499=)
c.1246C= (p.Leu416=)
c.1154C= (p.Pro385=)
n.1680C=
c.1504C= (p.Leu502=)
4g.6301290C>GCA356175180WFS1c.1531C>G (p.Leu511Val)
c.1472C>G
c.1495C>G (p.Leu499Val)
c.1246C>G (p.Leu416Val)
c.1154C>G (p.Pro385Arg)
n.1680C>G
c.1504C>G (p.Leu502Val)
ClinVar dbSNP gnomAD v4
4g.6301290C>TCA282572WFS1c.1531C>T (p.Leu511Phe)
c.1472C>T
c.1495C>T (p.Leu499Phe)
c.1246C>T (p.Leu416Phe)
c.1154C>T (p.Pro385Leu)
n.1680C>T
c.1504C>T (p.Leu502Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301291T>ACA356175185WFS1c.1532T>A (p.Leu511His)
c.1473T>A
c.1496T>A (p.Leu499His)
c.1247T>A (p.Leu416His)
c.1155T>A (p.Pro385=)
n.1681T>A
c.1505T>A (p.Leu502His)
4g.6301291T>CCA356175186WFS1c.1532T>C (p.Leu511Pro)
c.1473T>C
c.1496T>C (p.Leu499Pro)
c.1247T>C (p.Leu416Pro)
c.1155T>C (p.Pro385=)
n.1681T>C
c.1505T>C (p.Leu502Pro)
4g.6301291T>GCA356175188WFS1c.1532T>G (p.Leu511Arg)
c.1473T>G
c.1496T>G (p.Leu499Arg)
c.1247T>G (p.Leu416Arg)
c.1155T>G (p.Pro385=)
n.1681T>G
c.1505T>G (p.Leu502Arg)
4g.6301292C>ACA438369051WFS1c.1533C>A (p.Leu511=)
c.1474C>A
c.1497C>A (p.Leu499=)
c.1248C>A (p.Leu416=)
c.1156C>A (p.Gln386Lys)
n.1682C>A
c.1506C>A (p.Leu502=)
4g.6301292C=CA1435773129WFS1c.1533C= (p.Leu511=)
c.1474C=
c.1497C= (p.Leu499=)
c.1248C= (p.Leu416=)
c.1156C= (p.Gln386=)
n.1682C=
c.1506C= (p.Leu502=)
4g.6301292C>GCA438369052WFS1c.1533C>G (p.Leu511=)
c.1474C>G
c.1497C>G (p.Leu499=)
c.1248C>G (p.Leu416=)
c.1156C>G (p.Gln386Glu)
n.1682C>G
c.1506C>G (p.Leu502=)
4g.6301292C>TCA2839378WFS1c.1533C>T (p.Leu511=)
c.1474C>T
c.1497C>T (p.Leu499=)
c.1248C>T (p.Leu416=)
c.1156C>T (p.Gln386Ter)
n.1682C>T
c.1506C>T (p.Leu502=)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.6301293A>CCA356175191WFS1c.1534A>C (p.Asn512His)
c.1475A>C
c.1498A>C (p.Asn500His)
c.1249A>C (p.Asn417His)
c.1157A>C (p.Gln386Pro)
n.1683A>C
c.1507A>C (p.Asn503His)
gnomAD v4
4g.6301293A>GCA356175192WFS1c.1534A>G (p.Asn512Asp)
c.1475A>G
c.1498A>G (p.Asn500Asp)
c.1249A>G (p.Asn417Asp)
c.1157A>G (p.Gln386Arg)
n.1683A>G
c.1507A>G (p.Asn503Asp)
4g.6301293A>TCA356175193WFS1c.1534A>T (p.Asn512Tyr)
c.1475A>T
c.1498A>T (p.Asn500Tyr)
c.1249A>T (p.Asn417Tyr)
c.1157A>T (p.Gln386Leu)
n.1683A>T
c.1507A>T (p.Asn503Tyr)
4g.6301293_6301296delinsAACGCA1435773133WFS1c.1534_1537delinsAACG (p.Asn512=)
c.1475_1478delinsAACG
c.1498_1501delinsAACG (p.Asn500=)
c.1249_1252delinsAACG (p.Asn417=)
c.1157_1160delinsAACG (p.Gln386=)
n.1683_1686delinsAACG
c.1507_1510delinsAACG (p.Asn503=)
4g.6301294A=CA1435773136WFS1c.1535A= (p.Asn512=)
c.1476A=
c.1499A= (p.Asn500=)
c.1250A= (p.Asn417=)
c.1158A= (p.Gln386=)
n.1684A=
c.1508A= (p.Asn503=)
4g.6301294A>CCA356175195WFS1c.1535A>C (p.Asn512Thr)
c.1476A>C
c.1499A>C (p.Asn500Thr)
c.1250A>C (p.Asn417Thr)
c.1158A>C (p.Gln386His)
n.1684A>C
c.1508A>C (p.Asn503Thr)
gnomAD v4
4g.6301294A>GCA356175199WFS1c.1535A>G (p.Asn512Ser)
c.1476A>G
c.1499A>G (p.Asn500Ser)
c.1250A>G (p.Asn417Ser)
c.1158A>G (p.Gln386=)
n.1684A>G
c.1508A>G (p.Asn503Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.6301294A>TCA2839380WFS1c.1535A>T (p.Asn512Ile)
c.1476A>T
c.1499A>T (p.Asn500Ile)
c.1250A>T (p.Asn417Ile)
c.1158A>T (p.Gln386His)
n.1684A>T
c.1508A>T (p.Asn503Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.6301294_6301295delinsGTCA2580071772WFS1c.1535_1536delinsGT (p.Asn512Ser)
c.1476_1477delinsGT
c.1499_1500delinsGT (p.Asn500Ser)
c.1250_1251delinsGT (p.Asn417Ser)
c.1158_1159delinsGT (p.Arg387Cys)
n.1684_1685delinsGT
c.1508_1509delinsGT (p.Asn503Ser)
ClinVar
4g.6301294_6301296delCA2839379WFS1c.1535_1537del (p.Asn512_Val513delinsIle)
c.1476_1478del
c.1499_1501del (p.Asn500_Val501delinsIle)
c.1250_1252del (p.Asn417_Val418delinsIle)
c.1158_1160del (p.Gln386_Arg387delinsHis)
n.1684_1686del
c.1508_1510del (p.Asn503_Val504delinsIle)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.6301294_6301295insTGTCA2669843439WFS1c.1535_1536insTGT (p.Asn512_Val513insVal)
c.1476_1477insTGT
c.1499_1500insTGT (p.Asn500_Val501insVal)
c.1250_1251insTGT (p.Asn417_Val418insVal)
c.1158_1159insTGT (p.Gln386_Arg387insCys)
n.1684_1685insTGT
c.1508_1509insTGT (p.Asn503_Val504insVal)
gnomAD v4
4g.6301294_6301295insTACTCA2760285093WFS1c.1535_1536insTACT (p.Val513ThrfsTer?)
c.1476_1477insTACT
c.1499_1500insTACT (p.Val501ThrfsTer?)
c.1250_1251insTACT (p.Val418ThrfsTer?)
c.1158_1159insTACT (p.Arg387TyrfsTer23)
n.1684_1685insTACT
c.1508_1509insTACT (p.Val504ThrfsTer?)
4g.6301295C>ACA91796275WFS1c.1536C>A (p.Asn512Lys)
c.1477C>A
c.1500C>A (p.Asn500Lys)
c.1251C>A (p.Asn417Lys)
c.1159C>A (p.Arg387Ser)
n.1685C>A
c.1509C>A (p.Asn503Lys)
dbSNP
4g.6301295C=CA1435773142WFS1c.1536C= (p.Asn512=)
c.1477C=
c.1500C= (p.Asn500=)
c.1251C= (p.Asn417=)
c.1159C= (p.Arg387=)
n.1685C=
c.1509C= (p.Asn503=)
4g.6301295C>GCA91796276WFS1c.1536C>G (p.Asn512Lys)
c.1477C>G
c.1500C>G (p.Asn500Lys)
c.1251C>G (p.Asn417Lys)
c.1159C>G (p.Arg387Gly)
n.1685C>G
c.1509C>G (p.Asn503Lys)
dbSNP gnomAD v4
4g.6301295C>TCA136336WFS1c.1536C>T (p.Asn512=)
c.1477C>T
c.1500C>T (p.Asn500=)
c.1251C>T (p.Asn417=)
c.1159C>T (p.Arg387Cys)
n.1685C>T
c.1509C>T (p.Asn503=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301295_6301296insAGCGTCCCGTGCCTGCTCTATCA2669843440WFS1c.1536_1537insAGCGTCCCGTGCCTGCTCTAT (p.Asn512_Val513insSerValProCysLeuLeuTyr)
c.1477_1478insAGCGTCCCGTGCCTGCTCTAT
c.1500_1501insAGCGTCCCGTGCCTGCTCTAT (p.Asn500_Val501insSerValProCysLeuLeuTyr)
c.1251_1252insAGCGTCCCGTGCCTGCTCTAT (p.Asn417_Val418insSerValProCysLeuLeuTyr)
c.1159_1160insAGCGTCCCGTGCCTGCTCTAT (p.Arg387delinsGlnArgProValProAlaLeuCys)
n.1685_1686insAGCGTCCCGTGCCTGCTCTAT
c.1509_1510insAGCGTCCCGTGCCTGCTCTAT (p.Asn503_Val504insSerValProCysLeuLeuTyr)
gnomAD v4
4g.6301296G>ACA356175204WFS1c.1537G>A (p.Val513Ile)
c.1478G>A
c.1501G>A (p.Val501Ile)
c.1252G>A (p.Val418Ile)
c.1160G>A (p.Arg387His)
n.1686G>A
c.1510G>A (p.Val504Ile)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.6301296G>CCA356175208WFS1c.1537G>C (p.Val513Leu)
c.1478G>C
c.1501G>C (p.Val501Leu)
c.1252G>C (p.Val418Leu)
c.1160G>C (p.Arg387Pro)
n.1686G>C
c.1510G>C (p.Val504Leu)
dbSNP
4g.6301296G=CA1435773144WFS1c.1537G= (p.Val513=)
c.1478G=
c.1501G= (p.Val501=)
c.1252G= (p.Val418=)
c.1160G= (p.Arg387=)
n.1686G=
c.1510G= (p.Val504=)
4g.6301296G>TCA356175206WFS1c.1537G>T (p.Val513Phe)
c.1478G>T
c.1501G>T (p.Val501Phe)
c.1252G>T (p.Val418Phe)
c.1160G>T (p.Arg387Leu)
n.1686G>T
c.1510G>T (p.Val504Phe)
gnomAD v4
4g.6301297T>ACA356175210WFS1c.1538T>A (p.Val513Asp)
c.1479T>A
c.1502T>A (p.Val501Asp)
c.1253T>A (p.Val418Asp)
c.1161T>A (p.Arg387=)
n.1687T>A
c.1511T>A (p.Val504Asp)
ClinVar
4g.6301297T>CCA356175212WFS1c.1538T>C (p.Val513Ala)
c.1479T>C
c.1502T>C (p.Val501Ala)
c.1253T>C (p.Val418Ala)
c.1161T>C (p.Arg387=)
n.1687T>C
c.1511T>C (p.Val504Ala)
4g.6301297T>GCA356175214WFS1c.1538T>G (p.Val513Gly)
c.1479T>G
c.1502T>G (p.Val501Gly)
c.1253T>G (p.Val418Gly)
c.1161T>G (p.Arg387=)
n.1687T>G
c.1511T>G (p.Val504Gly)
4g.6301298C>ACA438369059WFS1c.1539C>A (p.Val513=)
c.1480C>A
c.1503C>A (p.Val501=)
c.1254C>A (p.Val418=)
c.1162C>A (p.Gln388Lys)
n.1688C>A
c.1512C>A (p.Val504=)
4g.6301298C=CA1435773147WFS1c.1539C= (p.Val513=)
c.1480C=
c.1503C= (p.Val501=)
c.1254C= (p.Val418=)
c.1162C= (p.Gln388=)
n.1688C=
c.1512C= (p.Val504=)
4g.6301298C>GCA438369062WFS1c.1539C>G (p.Val513=)
c.1480C>G
c.1503C>G (p.Val501=)
c.1254C>G (p.Val418=)
c.1162C>G (p.Gln388Glu)
n.1688C>G
c.1512C>G (p.Val504=)
4g.6301298C>TCA2839381WFS1c.1539C>T (p.Val513=)
c.1480C>T
c.1503C>T (p.Val501=)
c.1254C>T (p.Val418=)
c.1162C>T (p.Gln388Ter)
n.1688C>T
c.1512C>T (p.Val504=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.6301299A>CCA356175217WFS1c.1540A>C (p.Ser514Arg)
c.1481A>C
c.1504A>C (p.Ser502Arg)
c.1255A>C (p.Ser419Arg)
c.1163A>C (p.Gln388Pro)
n.1689A>C
c.1513A>C (p.Ser505Arg)
4g.6301299A>GCA356175219WFS1c.1540A>G (p.Ser514Gly)
c.1481A>G
c.1504A>G (p.Ser502Gly)
c.1255A>G (p.Ser419Gly)
c.1163A>G (p.Gln388Arg)
n.1689A>G
c.1513A>G (p.Ser505Gly)
4g.6301299A>TCA356175220WFS1c.1540A>T (p.Ser514Cys)
c.1481A>T
c.1504A>T (p.Ser502Cys)
c.1255A>T (p.Ser419Cys)
c.1163A>T (p.Gln388Leu)
n.1689A>T
c.1513A>T (p.Ser505Cys)
4g.6301300G>ACA356175223WFS1c.1541G>A (p.Ser514Asn)
c.1482G>A
c.1505G>A (p.Ser502Asn)
c.1256G>A (p.Ser419Asn)
c.1164G>A (p.Gln388=)
n.1690G>A
c.1514G>A (p.Ser505Asn)
4g.6301300G>CCA356175225WFS1c.1541G>C (p.Ser514Thr)
c.1482G>C
c.1505G>C (p.Ser502Thr)
c.1256G>C (p.Ser419Thr)
c.1164G>C (p.Gln388His)
n.1690G>C
c.1514G>C (p.Ser505Thr)
4g.6301300G>TCA356175226WFS1c.1541G>T (p.Ser514Ile)
c.1482G>T
c.1505G>T (p.Ser502Ile)
c.1256G>T (p.Ser419Ile)
c.1164G>T (p.Gln388His)
n.1690G>T
c.1514G>T (p.Ser505Ile)
gnomAD v4
4g.6301302_6301314delCA2586973625WFS1c.1543_1555del (p.Val515SerfsTer15)
c.1484_1496del
c.1507_1519del (p.Val503SerfsTer15)
c.1258_1270del (p.Val420SerfsTer15)
c.1166_1178del (p.Arg389LeufsTer?)
n.1692_1704del
c.1516_1528del (p.Val506SerfsTer15)
4g.6301301C>ACA2839383WFS1c.1542C>A (p.Ser514Arg)
c.1483C>A
c.1506C>A (p.Ser502Arg)
c.1257C>A (p.Ser419Arg)
c.1165C>A (p.Arg389Ser)
n.1691C>A
c.1515C>A (p.Ser505Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.6301301C=CA1435773152WFS1c.1542C= (p.Ser514=)
c.1483C=
c.1506C= (p.Ser502=)
c.1257C= (p.Ser419=)
c.1165C= (p.Arg389=)
n.1691C=
c.1515C= (p.Ser505=)
4g.6301301C>GCA356175230WFS1c.1542C>G (p.Ser514Arg)
c.1483C>G
c.1506C>G (p.Ser502Arg)
c.1257C>G (p.Ser419Arg)
c.1165C>G (p.Arg389Gly)
n.1691C>G
c.1515C>G (p.Ser505Arg)
4g.6301301C>TCA2839382WFS1c.1542C>T (p.Ser514=)
c.1483C>T
c.1506C>T (p.Ser502=)
c.1257C>T (p.Ser419=)
c.1165C>T (p.Arg389Cys)
n.1691C>T
c.1515C>T (p.Ser505=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301302G>ACA321920WFS1c.1543G>A (p.Val515Ile)
c.1484G>A
c.1507G>A (p.Val503Ile)
c.1258G>A (p.Val420Ile)
c.1166G>A (p.Arg389His)
n.1692G>A
c.1516G>A (p.Val506Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301302G>CCA356175237WFS1c.1543G>C (p.Val515Leu)
c.1484G>C
c.1507G>C (p.Val503Leu)
c.1258G>C (p.Val420Leu)
c.1166G>C (p.Arg389Pro)
n.1692G>C
c.1516G>C (p.Val506Leu)
gnomAD v4
4g.6301302G=CA1435773156WFS1c.1543G= (p.Val515=)
c.1484G=
c.1507G= (p.Val503=)
c.1258G= (p.Val420=)
c.1166G= (p.Arg389=)
n.1692G=
c.1516G= (p.Val506=)
4g.6301302G>TCA356175234WFS1c.1543G>T (p.Val515Phe)
c.1484G>T
c.1507G>T (p.Val503Phe)
c.1258G>T (p.Val420Phe)
c.1166G>T (p.Arg389Leu)
n.1692G>T
c.1516G>T (p.Val506Phe)
dbSNP gnomAD v2 gnomAD v4
4g.6301303T>ACA356175239WFS1c.1544T>A (p.Val515Asp)
c.1485T>A
c.1508T>A (p.Val503Asp)
c.1259T>A (p.Val420Asp)
c.1167T>A (p.Arg389=)
n.1693T>A
c.1517T>A (p.Val506Asp)
4g.6301303T>CCA356175240WFS1c.1544T>C (p.Val515Ala)
c.1485T>C
c.1508T>C (p.Val503Ala)
c.1259T>C (p.Val420Ala)
c.1167T>C (p.Arg389=)
n.1693T>C
c.1517T>C (p.Val506Ala)
gnomAD v4
4g.6301303T>GCA2839384WFS1c.1544T>G (p.Val515Gly)
c.1485T>G
c.1508T>G (p.Val503Gly)
c.1259T>G (p.Val420Gly)
c.1167T>G (p.Arg389=)
n.1693T>G
c.1517T>G (p.Val506Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.6301303T=CA1435773162WFS1c.1544T= (p.Val515=)
c.1485T=
c.1508T= (p.Val503=)
c.1259T= (p.Val420=)
c.1167T= (p.Arg389=)
n.1693T=
c.1517T= (p.Val506=)
4g.6301304C>ACA438368400WFS1c.1545C>A (p.Val515=)
c.1486C>A
c.1509C>A (p.Val503=)
c.1260C>A (p.Val420=)
c.1168C>A (p.Pro390Thr)
n.1694C>A
c.1518C>A (p.Val506=)
4g.6301304C=CA1435773166WFS1c.1545C= (p.Val515=)
c.1486C=
c.1509C= (p.Val503=)
c.1260C= (p.Val420=)
c.1168C= (p.Pro390=)
n.1694C=
c.1518C= (p.Val506=)
4g.6301304C>GCA438368401WFS1c.1545C>G (p.Val515=)
c.1486C>G
c.1509C>G (p.Val503=)
c.1260C>G (p.Val420=)
c.1168C>G (p.Pro390Ala)
n.1694C>G
c.1518C>G (p.Val506=)
4g.6301304C>TCA438368402WFS1c.1545C>T (p.Val515=)
c.1486C>T
c.1509C>T (p.Val503=)
c.1260C>T (p.Val420=)
c.1168C>T (p.Pro390Ser)
n.1694C>T
c.1518C>T (p.Val506=)
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
4g.6301305C>ACA16621815WFS1c.1546C>A (p.Pro516Thr)
c.1487C>A
c.1510C>A (p.Pro504Thr)
c.1261C>A (p.Pro421Thr)
c.1169C>A (p.Pro390His)
n.1695C>A
c.1519C>A (p.Pro507Thr)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.6301305C=CA1435773170WFS1c.1546C= (p.Pro516=)
c.1487C=
c.1510C= (p.Pro504=)
c.1261C= (p.Pro421=)
c.1169C= (p.Pro390=)
n.1695C=
c.1519C= (p.Pro507=)
4g.6301305C>GCA356175765WFS1c.1546C>G (p.Pro516Ala)
c.1487C>G
c.1510C>G (p.Pro504Ala)
c.1261C>G (p.Pro421Ala)
c.1169C>G (p.Pro390Arg)
n.1695C>G
c.1519C>G (p.Pro507Ala)
dbSNP gnomAD v4
4g.6301305C>TCA356175767WFS1c.1546C>T (p.Pro516Ser)
c.1487C>T
c.1510C>T (p.Pro504Ser)
c.1261C>T (p.Pro421Ser)
c.1169C>T (p.Pro390Leu)
n.1695C>T
c.1519C>T (p.Pro507Ser)
gnomAD v4
4g.6301306C>ACA356175770WFS1c.1547C>A (p.Pro516Gln)
c.1488C>A
c.1511C>A (p.Pro504Gln)
c.1262C>A (p.Pro421Gln)
c.1170C>A (p.Pro390=)
n.1696C>A
c.1520C>A (p.Pro507Gln)
dbSNP gnomAD v2
4g.6301306C=CA1435773174WFS1c.1547C= (p.Pro516=)
c.1488C=
c.1511C= (p.Pro504=)
c.1262C= (p.Pro421=)
c.1170C= (p.Pro390=)
n.1696C=
c.1520C= (p.Pro507=)
4g.6301306C>GCA356175771WFS1c.1547C>G (p.Pro516Arg)
c.1488C>G
c.1511C>G (p.Pro504Arg)
c.1262C>G (p.Pro421Arg)
c.1170C>G (p.Pro390=)
n.1696C>G
c.1520C>G (p.Pro507Arg)
ClinVar dbSNP gnomAD v4
4g.6301306C>TCA253190WFS1c.1547C>T (p.Pro516Leu)
c.1488C>T
c.1511C>T (p.Pro504Leu)
c.1262C>T (p.Pro421Leu)
c.1170C>T (p.Pro390=)
n.1696C>T
c.1520C>T (p.Pro507Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301307G>ACA2839385WFS1c.1548G>A (p.Pro516=)
c.1489G>A
c.1512G>A (p.Pro504=)
c.1263G>A (p.Pro421=)
c.1171G>A (p.Val391Met)
n.1697G>A
c.1521G>A (p.Pro507=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.6301307G>CCA438368414WFS1c.1548G>C (p.Pro516=)
c.1489G>C
c.1512G>C (p.Pro504=)
c.1263G>C (p.Pro421=)
c.1171G>C (p.Val391Leu)
n.1697G>C
c.1521G>C (p.Pro507=)
ClinVar dbSNP gnomAD v2 gnomAD v4
4g.6301307G=CA1435773182WFS1c.1548G= (p.Pro516=)
c.1489G=
c.1512G= (p.Pro504=)
c.1263G= (p.Pro421=)
c.1171G= (p.Val391=)
n.1697G=
c.1521G= (p.Pro507=)
4g.6301307G>TCA438368416WFS1c.1548G>T (p.Pro516=)
c.1489G>T
c.1512G>T (p.Pro504=)
c.1263G>T (p.Pro421=)
c.1171G>T (p.Val391Leu)
n.1697G>T
c.1521G>T (p.Pro507=)
dbSNP gnomAD v4

Number of alleles fetched