Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.24178401C>ACA3654472DCDC2c.1255G>T (p.Val419Phe)
c.514G>T (p.Val172Phe)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24178401C=CA1616325713DCDC2c.1255G= (p.Val419=)
c.514G= (p.Val172=)
6g.24178401C>GCA363279872DCDC2c.1255G>C (p.Val419Leu)
c.514G>C (p.Val172Leu)
6g.24178401C>TCA363279874DCDC2c.1255G>A (p.Val419Ile)
c.514G>A (p.Val172Ile)
6g.24178402C>ACA363279875DCDC2c.1254G>T (p.Gln418His)
c.513G>T (p.Gln171His)
6g.24178402C>GCA363279876DCDC2c.1254G>C (p.Gln418His)
c.513G>C (p.Gln171His)
6g.24178402C>TCA448963240DCDC2c.1254G>A (p.Gln418=)
c.513G>A (p.Gln171=)
6g.24178403T>ACA363279877DCDC2c.1253A>T (p.Gln418Leu)
c.512A>T (p.Gln171Leu)
6g.24178403T>CCA3654473DCDC2c.1253A>G (p.Gln418Arg)
c.512A>G (p.Gln171Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.24178403T>GCA363279878DCDC2c.1253A>C (p.Gln418Pro)
c.512A>C (p.Gln171Pro)
6g.24178403T=CA1616325718DCDC2c.1253A= (p.Gln418=)
c.512A= (p.Gln171=)
6g.24178404G>ACA363279879DCDC2c.1252C>T (p.Gln418Ter)
c.511C>T (p.Gln171Ter)
dbSNP gnomAD v2 gnomAD v4
6g.24178404G>CCA363279880DCDC2c.1252C>G (p.Gln418Glu)
c.511C>G (p.Gln171Glu)
6g.24178404G=CA1616325723DCDC2c.1252C= (p.Gln418=)
c.511C= (p.Gln171=)
6g.24178404G>TCA363279881DCDC2c.1252C>A (p.Gln418Lys)
c.511C>A (p.Gln171Lys)
6g.24178405C>ACA363279882DCDC2c.1251G>T (p.Gln417His)
c.510G>T (p.Gln170His)
6g.24178405C>GCA363279883DCDC2c.1251G>C (p.Gln417His)
c.510G>C (p.Gln170His)
6g.24178405C>TCA448963241DCDC2c.1251G>A (p.Gln417=)
c.510G>A (p.Gln170=)
6g.24178406T>ACA363279886DCDC2c.1250A>T (p.Gln417Leu)
c.509A>T (p.Gln170Leu)
6g.24178406T>CCA363279884DCDC2c.1250A>G (p.Gln417Arg)
c.509A>G (p.Gln170Arg)
dbSNP
6g.24178406T>GCA363279885DCDC2c.1250A>C (p.Gln417Pro)
c.509A>C (p.Gln170Pro)
6g.24178406T=CA1616325732DCDC2c.1250A= (p.Gln417=)
c.509A= (p.Gln170=)
6g.24178407G>ACA136622208DCDC2c.1249C>T (p.Gln417Ter)
c.508C>T (p.Gln170Ter)
dbSNP gnomAD v4
6g.24178407G>CCA363279888DCDC2c.1249C>G (p.Gln417Glu)
c.508C>G (p.Gln170Glu)
6g.24178407G=CA1616325735DCDC2c.1249C= (p.Gln417=)
c.508C= (p.Gln170=)
6g.24178407G>TCA363279887DCDC2c.1249C>A (p.Gln417Lys)
c.508C>A (p.Gln170Lys)
6g.24178408C>ACA448963242DCDC2c.1248G>T (p.Leu416=)
c.507G>T (p.Leu169=)
6g.24178408C>GCA448963243DCDC2c.1248G>C (p.Leu416=)
c.507G>C (p.Leu169=)
6g.24178408C>TCA448963244DCDC2c.1248G>A (p.Leu416=)
c.507G>A (p.Leu169=)
COSMIC COSMIC
6g.24178409A=CA1616325738DCDC2c.1247T= (p.Leu416=)
c.506T= (p.Leu169=)
6g.24178409A>CCA363279891DCDC2c.1247T>G (p.Leu416Arg)
c.506T>G (p.Leu169Arg)
6g.24178409A>GCA363279892DCDC2c.1247T>C (p.Leu416Pro)
c.506T>C (p.Leu169Pro)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.24178409A>TCA363279894DCDC2c.1247T>A (p.Leu416Gln)
c.506T>A (p.Leu169Gln)
6g.24178410G>ACA448963245DCDC2c.1246C>T (p.Leu416=)
c.505C>T (p.Leu169=)
6g.24178410G>CCA363279895DCDC2c.1246C>G (p.Leu416Val)
c.505C>G (p.Leu169Val)
gnomAD v4
6g.24178410G>TCA363279896DCDC2c.1246C>A (p.Leu416Met)
c.505C>A (p.Leu169Met)
6g.24178411C>ACA363279897DCDC2c.1245G>T (p.Glu415Asp)
c.504G>T (p.Glu168Asp)
6g.24178411C=CA1616325743DCDC2c.1245G= (p.Glu415=)
c.504G= (p.Glu168=)
6g.24178411C>GCA363279899DCDC2c.1245G>C (p.Glu415Asp)
c.504G>C (p.Glu168Asp)
6g.24178411C>TCA448963246DCDC2c.1245G>A (p.Glu415=)
c.504G>A (p.Glu168=)
dbSNP gnomAD v4
6g.24178412T>ACA363279901DCDC2c.1244A>T (p.Glu415Val)
c.503A>T (p.Glu168Val)
6g.24178412T>CCA363279902DCDC2c.1244A>G (p.Glu415Gly)
c.503A>G (p.Glu168Gly)
6g.24178412T>GCA363279903DCDC2c.1244A>C (p.Glu415Ala)
c.503A>C (p.Glu168Ala)
6g.24178413C>ACA363279904DCDC2c.1243G>T (p.Glu415Ter)
c.502G>T (p.Glu168Ter)
6g.24178413C=CA1616325746DCDC2c.1243G= (p.Glu415=)
c.502G= (p.Glu168=)
6g.24178413C>GCA363279905DCDC2c.1243G>C (p.Glu415Gln)
c.502G>C (p.Glu168Gln)
6g.24178413C>TCA136622209DCDC2c.1243G>A (p.Glu415Lys)
c.502G>A (p.Glu168Lys)
dbSNP gnomAD v4
6g.24178414C>ACA363279908DCDC2c.1242G>T (p.Glu414Asp)
c.501G>T (p.Glu167Asp)
6g.24178414C>GCA363279906DCDC2c.1242G>C (p.Glu414Asp)
c.501G>C (p.Glu167Asp)
6g.24178414C>TCA448963247DCDC2c.1242G>A (p.Glu414=)
c.501G>A (p.Glu167=)
gnomAD v4
6g.24178415_24178416dupCA1616325747DCDC2c.1241_1242dup (p.Glu415ArgfsTer14)
c.500_501dup (p.Glu168ArgfsTer14)
dbSNP
6g.24178415T>ACA363279909DCDC2c.1241A>T (p.Glu414Val)
c.500A>T (p.Glu167Val)
6g.24178415T>CCA363279911DCDC2c.1241A>G (p.Glu414Gly)
c.500A>G (p.Glu167Gly)
6g.24178415T>GCA3654474DCDC2c.1241A>C (p.Glu414Ala)
c.500A>C (p.Glu167Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.24178415T=CA1616325752DCDC2c.1241A= (p.Glu414=)
c.500A= (p.Glu167=)
6g.24178416C>ACA363279914DCDC2c.1240G>T (p.Glu414Ter)
c.499G>T (p.Glu167Ter)
6g.24178416C>GCA363279915DCDC2c.1240G>C (p.Glu414Gln)
c.499G>C (p.Glu167Gln)
6g.24178416C>TCA363279921DCDC2c.1240G>A (p.Glu414Lys)
c.499G>A (p.Glu167Lys)
6g.24178417A=CA1616325759DCDC2c.1239T= (p.Gly413=)
c.498T= (p.Gly166=)
6g.24178417A>CCA448963248DCDC2c.1239T>G (p.Gly413=)
c.498T>G (p.Gly166=)
6g.24178417A>GCA3654475DCDC2c.1239T>C (p.Gly413=)
c.498T>C (p.Gly166=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24178417A>TCA448963249DCDC2c.1239T>A (p.Gly413=)
c.498T>A (p.Gly166=)
6g.24178418C>ACA363279925DCDC2c.1238G>T (p.Gly413Val)
c.497G>T (p.Gly166Val)
dbSNP gnomAD v2 gnomAD v4
6g.24178418C=CA1616325768DCDC2c.1238G= (p.Gly413=)
c.497G= (p.Gly166=)
6g.24178418C>GCA363279927DCDC2c.1238G>C (p.Gly413Ala)
c.497G>C (p.Gly166Ala)
6g.24178418C>TCA363279929DCDC2c.1238G>A (p.Gly413Asp)
c.497G>A (p.Gly166Asp)
dbSNP gnomAD v3 gnomAD v4
6g.24178419C>ACA363279931DCDC2c.1237G>T (p.Gly413Cys)
c.496G>T (p.Gly166Cys)
6g.24178419C=CA1616325771DCDC2c.1237G= (p.Gly413=)
c.496G= (p.Gly166=)
6g.24178419C>GCA363279932DCDC2c.1237G>C (p.Gly413Arg)
c.496G>C (p.Gly166Arg)
6g.24178419C>TCA3654476DCDC2c.1237G>A (p.Gly413Ser)
c.496G>A (p.Gly166Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24178420A>CCA363279934DCDC2c.1236T>G (p.Asn412Lys)
c.495T>G (p.Asn165Lys)
6g.24178420A>GCA448963250DCDC2c.1236T>C (p.Asn412=)
c.495T>C (p.Asn165=)
gnomAD v4
6g.24178420A>TCA363279936DCDC2c.1236T>A (p.Asn412Lys)
c.495T>A (p.Asn165Lys)
6g.24178421T>ACA363279937DCDC2c.1235A>T (p.Asn412Ile)
c.494A>T (p.Asn165Ile)
6g.24178421T>CCA363279938DCDC2c.1235A>G (p.Asn412Ser)
c.494A>G (p.Asn165Ser)
6g.24178421T>GCA363279940DCDC2c.1235A>C (p.Asn412Thr)
c.494A>C (p.Asn165Thr)
6g.24178422T>ACA363279942DCDC2c.1234A>T (p.Asn412Tyr)
c.493A>T (p.Asn165Tyr)
6g.24178422T>CCA363279943DCDC2c.1234A>G (p.Asn412Asp)
c.493A>G (p.Asn165Asp)
6g.24178422T>GCA363279945DCDC2c.1234A>C (p.Asn412His)
c.493A>C (p.Asn165His)
6g.24178423C>ACA363279947DCDC2c.1233G>T (p.Glu411Asp)
c.492G>T (p.Glu164Asp)
6g.24178423C=CA1616325774DCDC2c.1233G= (p.Glu411=)
c.492G= (p.Glu164=)
6g.24178423C>GCA363279948DCDC2c.1233G>C (p.Glu411Asp)
c.492G>C (p.Glu164Asp)
gnomAD v4
6g.24178423C>TCA136622210DCDC2c.1233G>A (p.Glu411=)
c.492G>A (p.Glu164=)
dbSNP gnomAD v2 gnomAD v4
6g.24178424T>ACA363279952DCDC2c.1232A>T (p.Glu411Val)
c.491A>T (p.Glu164Val)
6g.24178424T>CCA363279954DCDC2c.1232A>G (p.Glu411Gly)
c.491A>G (p.Glu164Gly)
6g.24178424T>GCA363279956DCDC2c.1232A>C (p.Glu411Ala)
c.491A>C (p.Glu164Ala)
6g.24178425C>ACA363279958DCDC2c.1231G>T (p.Glu411Ter)
c.490G>T (p.Glu164Ter)
6g.24178425C>GCA363279960DCDC2c.1231G>C (p.Glu411Gln)
c.490G>C (p.Glu164Gln)
gnomAD v4
6g.24178425C>TCA363279957DCDC2c.1231G>A (p.Glu411Lys)
c.490G>A (p.Glu164Lys)
6g.24178426C>ACA363279962DCDC2c.1230G>T (p.Glu410Asp)
c.489G>T (p.Glu163Asp)
dbSNP
6g.24178426C>GCA363279964DCDC2c.1230G>C (p.Glu410Asp)
c.489G>C (p.Glu163Asp)
6g.24178426C>TCA448963251DCDC2c.1230G>A (p.Glu410=)
c.489G>A (p.Glu163=)
6g.24178427T>ACA363279966DCDC2c.1229A>T (p.Glu410Val)
c.488A>T (p.Glu163Val)
6g.24178427T>CCA363279967DCDC2c.1229A>G (p.Glu410Gly)
c.488A>G (p.Glu163Gly)
dbSNP
6g.24178427T>GCA363279969DCDC2c.1229A>C (p.Glu410Ala)
c.488A>C (p.Glu163Ala)
6g.24178427T=CA1616325780DCDC2c.1229A= (p.Glu410=)
c.488A= (p.Glu163=)
6g.24178428C>ACA363279975DCDC2c.1228G>T (p.Glu410Ter)
c.487G>T (p.Glu163Ter)
6g.24178428C>GCA363279971DCDC2c.1228G>C (p.Glu410Gln)
c.487G>C (p.Glu163Gln)
6g.24178428C>TCA363279973DCDC2c.1228G>A (p.Glu410Lys)
c.487G>A (p.Glu163Lys)
6g.24178429A=CA1616325785DCDC2c.1227T= (p.Asp409=)
c.486T= (p.Asp162=)
6g.24178429A>CCA363279977DCDC2c.1227T>G (p.Asp409Glu)
c.486T>G (p.Asp162Glu)
6g.24178429A>GCA448963252DCDC2c.1227T>C (p.Asp409=)
c.486T>C (p.Asp162=)
6g.24178429A>TCA363279978DCDC2c.1227T>A (p.Asp409Glu)
c.486T>A (p.Asp162Glu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.24178430T>ACA363279981DCDC2c.1226A>T (p.Asp409Val)
c.485A>T (p.Asp162Val)
6g.24178430T>CCA363279983DCDC2c.1226A>G (p.Asp409Gly)
c.485A>G (p.Asp162Gly)
dbSNP
6g.24178430T>GCA363279985DCDC2c.1226A>C (p.Asp409Ala)
c.485A>C (p.Asp162Ala)
6g.24178430T=CA1616325792DCDC2c.1226A= (p.Asp409=)
c.485A= (p.Asp162=)
6g.24178431C>ACA3654478DCDC2c.1225G>T (p.Asp409Tyr)
c.484G>T (p.Asp162Tyr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24178431C=CA1616325797DCDC2c.1225G= (p.Asp409=)
c.484G= (p.Asp162=)
6g.24178431C>GCA363279988DCDC2c.1225G>C (p.Asp409His)
c.484G>C (p.Asp162His)
6g.24178431C>TCA3654477DCDC2c.1225G>A (p.Asp409Asn)
c.484G>A (p.Asp162Asn)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24178432G>ACA3654479DCDC2c.1224C>T (p.Thr408=)
c.483C>T (p.Thr161=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24178432G>CCA448963253DCDC2c.1224C>G (p.Thr408=)
c.483C>G (p.Thr161=)
dbSNP gnomAD v4
6g.24178432G=CA1616325815DCDC2c.1224C= (p.Thr408=)
c.483C= (p.Thr161=)
6g.24178432G>TCA3654480DCDC2c.1224C>A (p.Thr408=)
c.483C>A (p.Thr161=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.24178433G>ACA363279992DCDC2c.1223C>T (p.Thr408Ile)
c.482C>T (p.Thr161Ile)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.24178433G>CCA363279995DCDC2c.1223C>G (p.Thr408Ser)
c.482C>G (p.Thr161Ser)
gnomAD v4
6g.24178433G=CA1616325824DCDC2c.1223C= (p.Thr408=)
c.482C= (p.Thr161=)
6g.24178433G>TCA363279997DCDC2c.1223C>A (p.Thr408Asn)
c.482C>A (p.Thr161Asn)
6g.24178434T>ACA363280004DCDC2c.1222A>T (p.Thr408Ser)
c.481A>T (p.Thr161Ser)
6g.24178434T>CCA363280006DCDC2c.1222A>G (p.Thr408Ala)
c.481A>G (p.Thr161Ala)
gnomAD v4
6g.24178434T>GCA363280007DCDC2c.1222A>C (p.Thr408Pro)
c.481A>C (p.Thr161Pro)
6g.24178435G>ACA448963254DCDC2c.1221C>T (p.Gly407=)
c.480C>T (p.Gly160=)
6g.24178435G>CCA3654481DCDC2c.1221C>G (p.Gly407=)
c.480C>G (p.Gly160=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24178435G=CA1616325832DCDC2c.1221C= (p.Gly407=)
c.480C= (p.Gly160=)
6g.24178435G>TCA448963255DCDC2c.1221C>A (p.Gly407=)
c.480C>A (p.Gly160=)
6g.24178436C>ACA3654482DCDC2c.1220G>T (p.Gly407Val)
c.479G>T (p.Gly160Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24178436C=CA1616325841DCDC2c.1220G= (p.Gly407=)
c.479G= (p.Gly160=)
6g.24178436C>GCA3654483DCDC2c.1220G>C (p.Gly407Ala)
c.479G>C (p.Gly160Ala)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24178436C>TCA363280011DCDC2c.1220G>A (p.Gly407Asp)
c.479G>A (p.Gly160Asp)
6g.24178437C>ACA363280012DCDC2c.1219G>T (p.Gly407Cys)
c.478G>T (p.Gly160Cys)
6g.24178437C=CA1616325844DCDC2c.1219G= (p.Gly407=)
c.478G= (p.Gly160=)
6g.24178437C>GCA3654484DCDC2c.1219G>C (p.Gly407Arg)
c.478G>C (p.Gly160Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.24178437C>TCA3654485DCDC2c.1219G>A (p.Gly407Ser)
c.478G>A (p.Gly160Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.24178438T>ACA448963256DCDC2c.1218A>T (p.Gly406=)
c.477A>T (p.Gly159=)
6g.24178438T>CCA448963257DCDC2c.1218A>G (p.Gly406=)
c.477A>G (p.Gly159=)
6g.24178438T>GCA448963258DCDC2c.1218A>C (p.Gly406=)
c.477A>C (p.Gly159=)
6g.24178439C>ACA363280013DCDC2c.1217G>T (p.Gly406Val)
c.476G>T (p.Gly159Val)
gnomAD v4
6g.24178439C=CA1616325852DCDC2c.1217G= (p.Gly406=)
c.476G= (p.Gly159=)
6g.24178439C>GCA363280015DCDC2c.1217G>C (p.Gly406Ala)
c.476G>C (p.Gly159Ala)
6g.24178439C>TCA363280014DCDC2c.1217G>A (p.Gly406Glu)
c.476G>A (p.Gly159Glu)
ClinVar dbSNP gnomAD v4
6g.24178440C>ACA363280016DCDC2c.1216G>T (p.Gly406Ter)
c.475G>T (p.Gly159Ter)
6g.24178440C>GCA363280017DCDC2c.1216G>C (p.Gly406Arg)
c.475G>C (p.Gly159Arg)
6g.24178440C>TCA363280018DCDC2c.1216G>A (p.Gly406Arg)
c.475G>A (p.Gly159Arg)
gnomAD v4
6g.24178441A=CA1616325863DCDC2c.1215T= (p.Asn405=)
c.474T= (p.Asn158=)
6g.24178441A>CCA363280019DCDC2c.1215T>G (p.Asn405Lys)
c.474T>G (p.Asn158Lys)
6g.24178441A>GCA448963259DCDC2c.1215T>C (p.Asn405=)
c.474T>C (p.Asn158=)
6g.24178441A>TCA363280020DCDC2c.1215T>A (p.Asn405Lys)
c.474T>A (p.Asn158Lys)
dbSNP
6g.24178442T>ACA363280021DCDC2c.1214A>T (p.Asn405Ile)
c.473A>T (p.Asn158Ile)
gnomAD v4
6g.24178442T>CCA3654486DCDC2c.1214A>G (p.Asn405Ser)
c.473A>G (p.Asn158Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.24178442T>GCA363280022DCDC2c.1214A>C (p.Asn405Thr)
c.473A>C (p.Asn158Thr)
6g.24178442T=CA1616325867DCDC2c.1214A= (p.Asn405=)
c.473A= (p.Asn158=)
6g.24178443T>ACA363280023DCDC2c.1213A>T (p.Asn405Tyr)
c.472A>T (p.Asn158Tyr)
6g.24178443T>CCA136622211DCDC2c.1213A>G (p.Asn405Asp)
c.472A>G (p.Asn158Asp)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.24178443T>GCA363280024DCDC2c.1213A>C (p.Asn405His)
c.472A>C (p.Asn158His)
6g.24178443T=CA1616325871DCDC2c.1213A= (p.Asn405=)
c.472A= (p.Asn158=)
6g.24178444T>ACA448963260DCDC2c.1212A>T (p.Val404=)
c.471A>T (p.Val157=)
6g.24178444T>CCA448963261DCDC2c.1212A>G (p.Val404=)
c.471A>G (p.Val157=)
6g.24178444T>GCA3654487DCDC2c.1212A>C (p.Val404=)
c.471A>C (p.Val157=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.24178444T=CA1616325878DCDC2c.1212A= (p.Val404=)
c.471A= (p.Val157=)
6g.24178445A>CCA363280033DCDC2c.1211T>G (p.Val404Gly)
c.470T>G (p.Val157Gly)
6g.24178445A>GCA363280025DCDC2c.1211T>C (p.Val404Ala)
c.470T>C (p.Val157Ala)
6g.24178445A>TCA363280031DCDC2c.1211T>A (p.Val404Glu)
c.470T>A (p.Val157Glu)
gnomAD v4
6g.24178446C>ACA363280035DCDC2c.1210G>T (p.Val404Leu)
c.469G>T (p.Val157Leu)
6g.24178446C>GCA363280037DCDC2c.1210G>C (p.Val404Leu)
c.469G>C (p.Val157Leu)
6g.24178446C>TCA363280039DCDC2c.1210G>A (p.Val404Ile)
c.469G>A (p.Val157Ile)
gnomAD v4
6g.24178447A=CA1616325884DCDC2c.1209T= (p.Arg403=)
c.468T= (p.Arg156=)
6g.24178447A>CCA448963264DCDC2c.1209T>G (p.Arg403=)
c.468T>G (p.Arg156=)
dbSNP gnomAD v3 gnomAD v4
6g.24178447A>GCA448963262DCDC2c.1209T>C (p.Arg403=)
c.468T>C (p.Arg156=)
6g.24178447A>TCA448963263DCDC2c.1209T>A (p.Arg403=)
c.468T>A (p.Arg156=)
6g.24178448C>ACA363280042DCDC2c.1208G>T (p.Arg403Leu)
c.467G>T (p.Arg156Leu)
dbSNP gnomAD v2 gnomAD v4
6g.24178448C=CA1616325890DCDC2c.1208G= (p.Arg403=)
c.467G= (p.Arg156=)
6g.24178448C>GCA363280045DCDC2c.1208G>C (p.Arg403Pro)
c.467G>C (p.Arg156Pro)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.24178448C>TCA3654488DCDC2c.1208G>A (p.Arg403His)
c.467G>A (p.Arg156His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24178449G>ACA363280047DCDC2c.1207C>T (p.Arg403Cys)
c.466C>T (p.Arg156Cys)
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
6g.24178449G>CCA363280049DCDC2c.1207C>G (p.Arg403Gly)
c.466C>G (p.Arg156Gly)
gnomAD v4
6g.24178449G=CA1616325902DCDC2c.1207C= (p.Arg403=)
c.466C= (p.Arg156=)
6g.24178449G>TCA363280054DCDC2c.1207C>A (p.Arg403Ser)
c.466C>A (p.Arg156Ser)
gnomAD v4
6g.24178450A>CCA448963267DCDC2c.1206T>G (p.Ala402=)
c.465T>G (p.Ala155=)
6g.24178450A>GCA448963266DCDC2c.1206T>C (p.Ala402=)
c.465T>C (p.Ala155=)
6g.24178450A>TCA448963265DCDC2c.1206T>A (p.Ala402=)
c.465T>A (p.Ala155=)
gnomAD v4
6g.24178451G>ACA3654489DCDC2c.1205C>T (p.Ala402Val)
c.464C>T (p.Ala155Val)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.24178451G>CCA363280057DCDC2c.1205C>G (p.Ala402Gly)
c.464C>G (p.Ala155Gly)
6g.24178451G=CA1616325909DCDC2c.1205C= (p.Ala402=)
c.464C= (p.Ala155=)
6g.24178451G>TCA363280059DCDC2c.1205C>A (p.Ala402Asp)
c.464C>A (p.Ala155Asp)
6g.24178452C>ACA363280072DCDC2c.1204G>T (p.Ala402Ser)
c.463G>T (p.Ala155Ser)
6g.24178452C=CA1616325915DCDC2c.1204G= (p.Ala402=)
c.463G= (p.Ala155=)
6g.24178452C>GCA3654490DCDC2c.1204G>C (p.Ala402Pro)
c.463G>C (p.Ala155Pro)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24178452C>TCA363280068DCDC2c.1204G>A (p.Ala402Thr)
c.463G>A (p.Ala155Thr)
dbSNP gnomAD v2 gnomAD v4
6g.24178453A=CA1616325920DCDC2c.1203T= (p.Pro401=)
c.462T= (p.Pro154=)
6g.24178453A>CCA448963268DCDC2c.1203T>G (p.Pro401=)
c.462T>G (p.Pro154=)
6g.24178453A>GCA448963269DCDC2c.1203T>C (p.Pro401=)
c.462T>C (p.Pro154=)
6g.24178453A>TCA3654491DCDC2c.1203T>A (p.Pro401=)
c.462T>A (p.Pro154=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24178454G>ACA363280077DCDC2c.1202C>T (p.Pro401Leu)
c.461C>T (p.Pro154Leu)
6g.24178454G>CCA363280079DCDC2c.1202C>G (p.Pro401Arg)
c.461C>G (p.Pro154Arg)
6g.24178454G=CA1616325923DCDC2c.1202C= (p.Pro401=)
c.461C= (p.Pro154=)
6g.24178454G>TCA3654492DCDC2c.1202C>A (p.Pro401His)
c.461C>A (p.Pro154His)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24178455G>ACA363280084DCDC2c.1201C>T (p.Pro401Ser)
c.460C>T (p.Pro154Ser)
gnomAD v4
6g.24178455G>CCA363280086DCDC2c.1201C>G (p.Pro401Ala)
c.460C>G (p.Pro154Ala)
6g.24178455G>TCA363280094DCDC2c.1201C>A (p.Pro401Thr)
c.460C>A (p.Pro154Thr)
6g.24178456G>ACA448963270DCDC2c.1200C>T (p.Arg400=)
c.459C>T (p.Arg153=)
gnomAD v4 COSMIC COSMIC
6g.24178456G>CCA448963271DCDC2c.1200C>G (p.Arg400=)
c.459C>G (p.Arg153=)
6g.24178456G>TCA448963272DCDC2c.1200C>A (p.Arg400=)
c.459C>A (p.Arg153=)
6g.24178457C>ACA363280096DCDC2c.1199G>T (p.Arg400Leu)
c.458G>T (p.Arg153Leu)
6g.24178457C=CA1616325924DCDC2c.1199G= (p.Arg400=)
c.458G= (p.Arg153=)
6g.24178457C>GCA363280097DCDC2c.1199G>C (p.Arg400Pro)
c.458G>C (p.Arg153Pro)
gnomAD v4
6g.24178457C>TCA3654493DCDC2c.1199G>A (p.Arg400His)
c.458G>A (p.Arg153His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.24178458G>ACA3654494DCDC2c.1198C>T (p.Arg400Cys)
c.457C>T (p.Arg153Cys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.24178458G>CCA363280100DCDC2c.1198C>G (p.Arg400Gly)
c.457C>G (p.Arg153Gly)
6g.24178458G=CA1616325933DCDC2c.1198C= (p.Arg400=)
c.457C= (p.Arg153=)
6g.24178458G>TCA363280101DCDC2c.1198C>A (p.Arg400Ser)
c.457C>A (p.Arg153Ser)
dbSNP
6g.24178459T>ACA448963273DCDC2c.1197A>T (p.Ala399=)
c.456A>T (p.Ala152=)
6g.24178459T>CCA448963274DCDC2c.1197A>G (p.Ala399=)
c.456A>G (p.Ala152=)
gnomAD v4
6g.24178459T>GCA448963275DCDC2c.1197A>C (p.Ala399=)
c.456A>C (p.Ala152=)
6g.24178460G>ACA363280103DCDC2c.1196C>T (p.Ala399Val)
c.455C>T (p.Ala152Val)
6g.24178460G>CCA363280105DCDC2c.1196C>G (p.Ala399Gly)
c.455C>G (p.Ala152Gly)
6g.24178460G>TCA363280102DCDC2c.1196C>A (p.Ala399Glu)
c.455C>A (p.Ala152Glu)
6g.24178461C>ACA363280106DCDC2c.1195G>T (p.Ala399Ser)
c.454G>T (p.Ala152Ser)
6g.24178461C>GCA363280107DCDC2c.1195G>C (p.Ala399Pro)
c.454G>C (p.Ala152Pro)
6g.24178461C>TCA363280108DCDC2c.1195G>A (p.Ala399Thr)
c.454G>A (p.Ala152Thr)
COSMIC COSMIC
6g.24178462C>ACA363280109DCDC2c.1194G>T (p.Gln398His)
c.453G>T (p.Gln151His)
6g.24178462C>GCA363280112DCDC2c.1194G>C (p.Gln398His)
c.453G>C (p.Gln151His)
gnomAD v4
6g.24178462C>TCA448963276DCDC2c.1194G>A (p.Gln398=)
c.453G>A (p.Gln151=)
6g.24178467_24178469dupCA2711291839DCDC2c.1192_1194dup (p.Gln398_Ala399insGln)
c.451_453dup (p.Gln151_Ala152insGln)
dbSNP
6g.24178463T>ACA363280115DCDC2c.1193A>T (p.Gln398Leu)
c.452A>T (p.Gln151Leu)
6g.24178463T>CCA363280117DCDC2c.1193A>G (p.Gln398Arg)
c.452A>G (p.Gln151Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.24178463T>GCA363280119DCDC2c.1193A>C (p.Gln398Pro)
c.452A>C (p.Gln151Pro)
6g.24178463T=CA1616325938DCDC2c.1193A= (p.Gln398=)
c.452A= (p.Gln151=)
6g.24178464G>ACA363280122DCDC2c.1192C>T (p.Gln398Ter)
c.451C>T (p.Gln151Ter)
6g.24178464G>CCA363280131DCDC2c.1192C>G (p.Gln398Glu)
c.451C>G (p.Gln151Glu)
6g.24178464G>TCA363280133DCDC2c.1192C>A (p.Gln398Lys)
c.451C>A (p.Gln151Lys)
6g.24178465C>ACA363280135DCDC2c.1191G>T (p.Gln397His)
c.450G>T (p.Gln150His)
6g.24178465C>GCA363280136DCDC2c.1191G>C (p.Gln397His)
c.450G>C (p.Gln150His)
6g.24178465C>TCA448963277DCDC2c.1191G>A (p.Gln397=)
c.450G>A (p.Gln150=)
6g.24178466T>ACA363280146DCDC2c.1190A>T (p.Gln397Leu)
c.449A>T (p.Gln150Leu)
6g.24178466T>CCA363280143DCDC2c.1190A>G (p.Gln397Arg)
c.449A>G (p.Gln150Arg)
6g.24178466T>GCA363280141DCDC2c.1190A>C (p.Gln397Pro)
c.449A>C (p.Gln150Pro)
6g.24178467G>ACA363280152DCDC2c.1189C>T (p.Gln397Ter)
c.448C>T (p.Gln150Ter)
gnomAD v4
6g.24178467G>CCA363280153DCDC2c.1189C>G (p.Gln397Glu)
c.448C>G (p.Gln150Glu)
6g.24178467G>TCA363280155DCDC2c.1189C>A (p.Gln397Lys)
c.448C>A (p.Gln150Lys)
6g.24178468C>ACA363280158DCDC2c.1188G>T (p.Glu396Asp)
c.447G>T (p.Glu149Asp)
6g.24178468C>GCA363280159DCDC2c.1188G>C (p.Glu396Asp)
c.447G>C (p.Glu149Asp)
6g.24178468C>TCA448963278DCDC2c.1188G>A (p.Glu396=)
c.447G>A (p.Glu149=)
6g.24178469T>ACA363280161DCDC2c.1187A>T (p.Glu396Val)
c.446A>T (p.Glu149Val)
6g.24178469T>CCA363280162DCDC2c.1187A>G (p.Glu396Gly)
c.446A>G (p.Glu149Gly)
6g.24178469T>GCA363280165DCDC2c.1187A>C (p.Glu396Ala)
c.446A>C (p.Glu149Ala)
6g.24178470C>ACA363280168DCDC2c.1186G>T (p.Glu396Ter)
c.445G>T (p.Glu149Ter)
6g.24178470C>GCA363280195DCDC2c.1186G>C (p.Glu396Gln)
c.445G>C (p.Glu149Gln)
6g.24178470C>TCA363280198DCDC2c.1186G>A (p.Glu396Lys)
c.445G>A (p.Glu149Lys)
6g.24178471A>CCA363280201DCDC2c.1185T>G (p.Ser395Arg)
c.444T>G (p.Ser148Arg)
6g.24178471A>GCA448963279DCDC2c.1185T>C (p.Ser395=)
c.444T>C (p.Ser148=)
6g.24178471A>TCA363280204DCDC2c.1185T>A (p.Ser395Arg)
c.444T>A (p.Ser148Arg)
6g.24178472C>ACA363280207DCDC2c.1184G>T (p.Ser395Ile)
c.443G>T (p.Ser148Ile)
6g.24178472C>GCA363280209DCDC2c.1184G>C (p.Ser395Thr)
c.443G>C (p.Ser148Thr)
6g.24178472C>TCA363280206DCDC2c.1184G>A (p.Ser395Asn)
c.443G>A (p.Ser148Asn)
6g.24178473T>ACA363280212DCDC2c.1183A>T (p.Ser395Cys)
c.442A>T (p.Ser148Cys)
6g.24178473T>CCA363280215DCDC2c.1183A>G (p.Ser395Gly)
c.442A>G (p.Ser148Gly)
6g.24178473T>GCA363280216DCDC2c.1183A>C (p.Ser395Arg)
c.442A>C (p.Ser148Arg)
6g.24178474G>ACA3654495DCDC2c.1182C>T (p.His394=)
c.441C>T (p.His147=)
dbSNP ExAC gnomAD v3 gnomAD v4
6g.24178474G>CCA363280221DCDC2c.1182C>G (p.His394Gln)
c.441C>G (p.His147Gln)
6g.24178474G=CA1616325942DCDC2c.1182C= (p.His394=)
c.441C= (p.His147=)
6g.24178474G>TCA363280224DCDC2c.1182C>A (p.His394Gln)
c.441C>A (p.His147Gln)
6g.24178475T>ACA363280227DCDC2c.1181A>T (p.His394Leu)
c.440A>T (p.His147Leu)
6g.24178475T>CCA363280229DCDC2c.1181A>G (p.His394Arg)
c.440A>G (p.His147Arg)
dbSNP gnomAD v2 gnomAD v4
6g.24178475T>GCA136622212DCDC2c.1181A>C (p.His394Pro)
c.440A>C (p.His147Pro)
dbSNP
6g.24178475T=CA1616325955DCDC2c.1181A= (p.His394=)
c.440A= (p.His147=)
6g.24178475dupCA891862727DCDC2c.1181dup (p.His394GlnfsTer3)
c.440dup (p.His147GlnfsTer3)
ClinVar dbSNP gnomAD v4
6g.24178476G>ACA363280237DCDC2c.1180C>T (p.His394Tyr)
c.439C>T (p.His147Tyr)
6g.24178476G>CCA363280242DCDC2c.1180C>G (p.His394Asp)
c.439C>G (p.His147Asp)
6g.24178476G>TCA363280243DCDC2c.1180C>A (p.His394Asn)
c.439C>A (p.His147Asn)
6g.24178477A>CCA363280246DCDC2c.1179T>G (p.Asp393Glu)
c.438T>G (p.Asp146Glu)
6g.24178477A>GCA448963280DCDC2c.1179T>C (p.Asp393=)
c.438T>C (p.Asp146=)
6g.24178477A>TCA363280245DCDC2c.1179T>A (p.Asp393Glu)
c.438T>A (p.Asp146Glu)
6g.24178478T>ACA363280249DCDC2c.1178A>T (p.Asp393Val)
c.437A>T (p.Asp146Val)
6g.24178478T>CCA363280250DCDC2c.1178A>G (p.Asp393Gly)
c.437A>G (p.Asp146Gly)
6g.24178478T>GCA363280251DCDC2c.1178A>C (p.Asp393Ala)
c.437A>C (p.Asp146Ala)
6g.24178479C>ACA363280252DCDC2c.1177G>T (p.Asp393Tyr)
c.436G>T (p.Asp146Tyr)
COSMIC
6g.24178479C>GCA363280253DCDC2c.1177G>C (p.Asp393His)
c.436G>C (p.Asp146His)
gnomAD v4
6g.24178479C>TCA363280254DCDC2c.1177G>A (p.Asp393Asn)
c.436G>A (p.Asp146Asn)
6g.24178480C>ACA448963281DCDC2c.1176G>T (p.Leu392=)
c.435G>T (p.Leu145=)
6g.24178480C=CA1616325964DCDC2c.1176G= (p.Leu392=)
c.435G= (p.Leu145=)
6g.24178480C>GCA448963283DCDC2c.1176G>C (p.Leu392=)
c.435G>C (p.Leu145=)
dbSNP
6g.24178480C>TCA448963282DCDC2c.1176G>A (p.Leu392=)
c.435G>A (p.Leu145=)
6g.24178481A>CCA363280256DCDC2c.1175T>G (p.Leu392Arg)
c.434T>G (p.Leu145Arg)
gnomAD v4
6g.24178481A>GCA363280258DCDC2c.1175T>C (p.Leu392Pro)
c.434T>C (p.Leu145Pro)
6g.24178481A>TCA363280259DCDC2c.1175T>A (p.Leu392Gln)
c.434T>A (p.Leu145Gln)
6g.24178482G>ACA448963285DCDC2c.1174C>T (p.Leu392=)
c.433C>T (p.Leu145=)
6g.24178482G>CCA363280261DCDC2c.1174C>G (p.Leu392Val)
c.433C>G (p.Leu145Val)
dbSNP gnomAD v2 gnomAD v4
6g.24178482G=CA1616325968DCDC2c.1174C= (p.Leu392=)
c.433C= (p.Leu145=)
6g.24178482G>TCA363280263DCDC2c.1174C>A (p.Leu392Met)
c.433C>A (p.Leu145Met)
gnomAD v4
6g.24178483A=CA1616325974DCDC2c.1173T= (p.Ile391=)
c.432T= (p.Ile144=)
6g.24178483A>CCA363280265DCDC2c.1173T>G (p.Ile391Met)
c.432T>G (p.Ile144Met)
6g.24178483A>GCA448963286DCDC2c.1173T>C (p.Ile391=)
c.432T>C (p.Ile144=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.24178483A>TCA448963287DCDC2c.1173T>A (p.Ile391=)
c.432T>A (p.Ile144=)
6g.24178484A=CA1616325977DCDC2c.1172T= (p.Ile391=)
c.431T= (p.Ile144=)
6g.24178484A>CCA363280271DCDC2c.1172T>G (p.Ile391Ser)
c.431T>G (p.Ile144Ser)
6g.24178484A>GCA363280269DCDC2c.1172T>C (p.Ile391Thr)
c.431T>C (p.Ile144Thr)
dbSNP gnomAD v2 gnomAD v4
6g.24178484A>TCA363280267DCDC2c.1172T>A (p.Ile391Asn)
c.431T>A (p.Ile144Asn)
6g.24178485T>ACA363280273DCDC2c.1171A>T (p.Ile391Phe)
c.430A>T (p.Ile144Phe)
6g.24178485T>CCA136622213DCDC2c.1171A>G (p.Ile391Val)
c.430A>G (p.Ile144Val)
dbSNP
6g.24178485T>GCA363280274DCDC2c.1171A>C (p.Ile391Leu)
c.430A>C (p.Ile144Leu)
6g.24178485T=CA1616325981DCDC2c.1171A= (p.Ile391=)
c.430A= (p.Ile144=)
6g.24178486C>ACA363280277DCDC2c.1170G>T (p.Glu390Asp)
c.429G>T (p.Glu143Asp)
6g.24178486C=CA1616325983DCDC2c.1170G= (p.Glu390=)
c.429G= (p.Glu143=)
6g.24178486C>GCA3654496DCDC2c.1170G>C (p.Glu390Asp)
c.429G>C (p.Glu143Asp)
dbSNP ExAC gnomAD v2
6g.24178486C>TCA448963290DCDC2c.1170G>A (p.Glu390=)
c.429G>A (p.Glu143=)
COSMIC
6g.24178489_24178491delCA2677514364DCDC2c.1168_1170del (p.Glu390del)
c.427_429del (p.Glu143del)
gnomAD v4
6g.24178487T>ACA363280280DCDC2c.1169A>T (p.Glu390Val)
c.428A>T (p.Glu143Val)
6g.24178487T>CCA363280283DCDC2c.1169A>G (p.Glu390Gly)
c.428A>G (p.Glu143Gly)
6g.24178487T>GCA363280281DCDC2c.1169A>C (p.Glu390Ala)
c.428A>C (p.Glu143Ala)
6g.24178488C>ACA363280285DCDC2c.1168G>T (p.Glu390Ter)
c.427G>T (p.Glu143Ter)
6g.24178488C>GCA363280287DCDC2c.1168G>C (p.Glu390Gln)
c.427G>C (p.Glu143Gln)
gnomAD v4
6g.24178488C>TCA363280289DCDC2c.1168G>A (p.Glu390Lys)
c.427G>A (p.Glu143Lys)
6g.24178489C>ACA363280291DCDC2c.1167G>T (p.Glu389Asp)
c.426G>T (p.Glu142Asp)
6g.24178489C>GCA363280292DCDC2c.1167G>C (p.Glu389Asp)
c.426G>C (p.Glu142Asp)
6g.24178489C>TCA448963295DCDC2c.1167G>A (p.Glu389=)
c.426G>A (p.Glu142=)
gnomAD v4
6g.24178490T>ACA363280294DCDC2c.1166A>T (p.Glu389Val)
c.425A>T (p.Glu142Val)
6g.24178490T>CCA3654497DCDC2c.1166A>G (p.Glu389Gly)
c.425A>G (p.Glu142Gly)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24178490T>GCA363280297DCDC2c.1166A>C (p.Glu389Ala)
c.425A>C (p.Glu142Ala)
6g.24178490T=CA1616325989DCDC2c.1166A= (p.Glu389=)
c.425A= (p.Glu142=)
6g.24178491C>ACA363280299DCDC2c.1165G>T (p.Glu389Ter)
c.424G>T (p.Glu142Ter)
gnomAD v4
6g.24178491C=CA1616325993DCDC2c.1165G= (p.Glu389=)
c.424G= (p.Glu142=)
6g.24178491C>GCA363280301DCDC2c.1165G>C (p.Glu389Gln)
c.424G>C (p.Glu142Gln)
gnomAD v4
6g.24178491C>TCA3654498DCDC2c.1165G>A (p.Glu389Lys)
c.424G>A (p.Glu142Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.24178492G>ACA3654499DCDC2c.1164C>T (p.Val388=)
c.423C>T (p.Val141=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.24178492G>CCA448963298DCDC2c.1164C>G (p.Val388=)
c.423C>G (p.Val141=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.24178492G=CA1616326003DCDC2c.1164C= (p.Val388=)
c.423C= (p.Val141=)
6g.24178492G>TCA448963299DCDC2c.1164C>A (p.Val388=)
c.423C>A (p.Val141=)
6g.24178493A=CA1616326004DCDC2c.1163T= (p.Val388=)
c.422T= (p.Val141=)
6g.24178493A>CCA363280308DCDC2c.1163T>G (p.Val388Gly)
c.422T>G (p.Val141Gly)
6g.24178493A>GCA363280306DCDC2c.1163T>C (p.Val388Ala)
c.422T>C (p.Val141Ala)
dbSNP gnomAD v3 gnomAD v4
6g.24178493A>TCA363280307DCDC2c.1163T>A (p.Val388Asp)
c.422T>A (p.Val141Asp)
6g.24178494C>ACA363280310DCDC2c.1162G>T (p.Val388Phe)
c.421G>T (p.Val141Phe)
6g.24178494C>GCA363280311DCDC2c.1162G>C (p.Val388Leu)
c.421G>C (p.Val141Leu)
6g.24178494C>TCA363280314DCDC2c.1162G>A (p.Val388Ile)
c.421G>A (p.Val141Ile)
6g.24178495T>ACA363280318DCDC2c.1161A>T (p.Gln387His)
c.420A>T (p.Gln140His)
6g.24178495T>CCA448963302DCDC2c.1161A>G (p.Gln387=)
c.420A>G (p.Gln140=)
6g.24178495T>GCA363280319DCDC2c.1161A>C (p.Gln387His)
c.420A>C (p.Gln140His)
COSMIC COSMIC
6g.24178496T>ACA363280322DCDC2c.1160A>T (p.Gln387Leu)
c.419A>T (p.Gln140Leu)
6g.24178496T>CCA363280325DCDC2c.1160A>G (p.Gln387Arg)
c.419A>G (p.Gln140Arg)
6g.24178496T>GCA363280327DCDC2c.1160A>C (p.Gln387Pro)
c.419A>C (p.Gln140Pro)
6g.24178497G>ACA363280329DCDC2c.1159C>T (p.Gln387Ter)
c.418C>T (p.Gln140Ter)
6g.24178497G>CCA363280331DCDC2c.1159C>G (p.Gln387Glu)
c.418C>G (p.Gln140Glu)
6g.24178497G>TCA363280332DCDC2c.1159C>A (p.Gln387Lys)
c.418C>A (p.Gln140Lys)
6g.24178498C>ACA363280339DCDC2c.1158G>T (p.Glu386Asp)
c.417G>T (p.Glu139Asp)
6g.24178498C>GCA363280334DCDC2c.1158G>C (p.Glu386Asp)
c.417G>C (p.Glu139Asp)
6g.24178498C>TCA448963306DCDC2c.1158G>A (p.Glu386=)
c.417G>A (p.Glu139=)
6g.24178499T>ACA363280341DCDC2c.1157A>T (p.Glu386Val)
c.416A>T (p.Glu139Val)
6g.24178499T>CCA363280342DCDC2c.1157A>G (p.Glu386Gly)
c.416A>G (p.Glu139Gly)
6g.24178499T>GCA363280344DCDC2c.1157A>C (p.Glu386Ala)
c.416A>C (p.Glu139Ala)
6g.24178500C>ACA363280345DCDC2c.1156G>T (p.Glu386Ter)
c.415G>T (p.Glu139Ter)
6g.24178500C>GCA363280347DCDC2c.1156G>C (p.Glu386Gln)
c.415G>C (p.Glu139Gln)
6g.24178500C>TCA363280349DCDC2c.1156G>A (p.Glu386Lys)
c.415G>A (p.Glu139Lys)
6g.24178500_24178501delinsCACA1616326006DCDC2c.1155_1156delinsTG (p.Pro385=)
c.414_415delinsTG (p.Pro138=)
6g.24178501delCA136622214DCDC2c.1155del (p.Glu386SerfsTer19)
c.414del (p.Glu139SerfsTer19)
ClinVar dbSNP gnomAD v3 gnomAD v4
6g.24178501A>CCA448963310DCDC2c.1155T>G (p.Pro385=)
c.414T>G (p.Pro138=)
6g.24178501A>GCA448963311DCDC2c.1155T>C (p.Pro385=)
c.414T>C (p.Pro138=)
6g.24178501A>TCA448963312DCDC2c.1155T>A (p.Pro385=)
c.414T>A (p.Pro138=)

Number of alleles fetched