Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.67939949_67939959delinsGGGACCCTGGCCA2229563142LCATc.1268_1278delinsGCCAGGGTCCC (p.Arg423=)
c.271_281delinsGCCAGGGTCCC
c.1006_1016delinsGCCAGGGTCCC (n.1006_1016delinsGCCAGGGTCCC)
16g.67939952_67939961delCA623122720LCATc.1268_1277del (p.Arg423ProfsTer23)
c.271_280del
c.1006_1015del (n.1006_1015del)
c.1268_1277del (p.Arg423ProfsTer?)
dbSNP gnomAD v2 gnomAD v4
16g.67939952A>CCA496092205LCATc.1275T>G (p.Gly425=)
c.278T>G
c.1013T>G (n.1013T>G)
16g.67939952A>GCA496092207LCATc.1275T>C (p.Gly425=)
c.278T>C
c.1013T>C (n.1013T>C)
16g.67939952A>TCA496092209LCATc.1275T>A (p.Gly425=)
c.278T>A
c.1013T>A (n.1013T>A)
16g.67939953C>ACA396375319LCATc.1274G>T (p.Gly425Val)
c.277G>T
c.1012G>T (n.1012G>T)
16g.67939953C>GCA396375320LCATc.1274G>C (p.Gly425Ala)
c.277G>C
c.1012G>C (n.1012G>C)
16g.67939953C>TCA396375321LCATc.1274G>A (p.Gly425Asp)
c.277G>A
c.1012G>A (n.1012G>A)
16g.67939954C>ACA396375322LCATc.1273G>T (p.Gly425Cys)
c.276G>T
c.1011G>T (n.1011G>T)
gnomAD v4
16g.67939954C>GCA396375323LCATc.1273G>C (p.Gly425Arg)
c.276G>C
c.1011G>C (n.1011G>C)
16g.67939954C>TCA396375324LCATc.1273G>A (p.Gly425Ser)
c.276G>A
c.1011G>A (n.1011G>A)
16g.67939955C>ACA396375326LCATc.1272G>T (p.Gln424His)
c.275G>T
c.1010G>T (n.1010G>T)
16g.67939955C>GCA396375325LCATc.1272G>C (p.Gln424His)
c.275G>C
c.1010G>C (n.1010G>C)
16g.67939955C>TCA496092225LCATc.1272G>A (p.Gln424=)
c.275G>A
c.1010G>A (n.1010G>A)
16g.67939956T>ACA396375327LCATc.1271A>T (p.Gln424Leu)
c.274A>T
c.1009A>T (n.1009A>T)
gnomAD v4
16g.67939956T>CCA396375328LCATc.1271A>G (p.Gln424Arg)
c.274A>G
c.1009A>G (n.1009A>G)
16g.67939956T>GCA396375329LCATc.1271A>C (p.Gln424Pro)
c.274A>C
c.1009A>C (n.1009A>C)
16g.67939957G>ACA396375330LCATc.1270C>T (p.Gln424Ter)
c.273C>T
c.1008C>T (n.1008C>T)
16g.67939957G>CCA396375331LCATc.1270C>G (p.Gln424Glu)
c.273C>G
c.1008C>G (n.1008C>G)
16g.67939957G>TCA396375332LCATc.1270C>A (p.Gln424Lys)
c.273C>A
c.1008C>A (n.1008C>A)
16g.67939958G>ACA496092241LCATc.1269C>T (p.Arg423=)
c.272C>T
c.1007C>T (n.1007C>T)
dbSNP
16g.67939958G>CCA496092243LCATc.1269C>G (p.Arg423=)
c.272C>G
c.1007C>G (n.1007C>G)
16g.67939958G=CA2229563146LCATc.1269C= (p.Arg423=)
c.272C=
c.1007C= (n.1007C=)
16g.67939958G>TCA496092245LCATc.1269C>A (p.Arg423=)
c.272C>A
c.1007C>A (n.1007C>A)
16g.67939959C>ACA396375333LCATc.1268G>T (p.Arg423Leu)
c.271G>T
c.1006G>T (n.1006G>T)
gnomAD v4
16g.67939959C=CA2229563147LCATc.1268G= (p.Arg423=)
c.271G=
c.1006G= (n.1006G=)
16g.67939959C>GCA396375334LCATc.1268G>C (p.Arg423Pro)
c.271G>C
c.1006G>C (n.1006G>C)
16g.67939959C>TCA8120861LCATc.1268G>A (p.Arg423His)
c.271G>A
c.1006G>A (n.1006G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.67939960G>ACA8120862LCATc.1267C>T (p.Arg423Cys)
c.270C>T
c.1005C>T (n.1005C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.67939960G>CCA396375335LCATc.1267C>G (p.Arg423Gly)
c.270C>G
c.1005C>G (n.1005C>G)
gnomAD v4
16g.67939960G=CA2229563148LCATc.1267C= (p.Arg423=)
c.270C=
c.1005C= (n.1005C=)
16g.67939960G>TCA396375336LCATc.1267C>A (p.Arg423Ser)
c.270C>A
c.1005C>A (n.1005C>A)
dbSNP gnomAD v2 gnomAD v4
16g.67939961G>ACA496092261LCATc.1266C>T (p.Tyr422=)
c.269C>T
c.1004C>T (n.1004C>T)
16g.67939961G>CCA396375338LCATc.1266C>G (p.Tyr422Ter)
c.269C>G
c.1004C>G (n.1004C>G)
dbSNP
16g.67939961G>TCA396375337LCATc.1266C>A (p.Tyr422Ter)
c.269C>A
c.1004C>A (n.1004C>A)
16g.67939962T>ACA396375339LCATc.1265A>T (p.Tyr422Phe)
c.268A>T
c.1003A>T (n.1003A>T)
16g.67939962T>CCA8120863LCATc.1265A>G (p.Tyr422Cys)
c.268A>G
c.1003A>G (n.1003A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.67939962T>GCA396375340LCATc.1265A>C (p.Tyr422Ser)
c.268A>C
c.1003A>C (n.1003A>C)
dbSNP
16g.67939962T=CA2229563149LCATc.1265A= (p.Tyr422=)
c.268A=
c.1003A= (n.1003A=)
16g.67939963A>CCA396375341LCATc.1264T>G (p.Tyr422Asp)
c.267T>G
c.1002T>G (n.1002T>G)
16g.67939963A>GCA396375342LCATc.1264T>C (p.Tyr422His)
c.267T>C
c.1002T>C (n.1002T>C)
gnomAD v4
16g.67939963A>TCA396375343LCATc.1264T>A (p.Tyr422Asn)
c.267T>A
c.1002T>A (n.1002T>A)
16g.67939964G>ACA496092275LCATc.1263C>T (p.Ala421=)
c.266C>T
c.1001C>T (n.1001C>T)
16g.67939964G>CCA496092279LCATc.1263C>G (p.Ala421=)
c.266C>G
c.1001C>G (n.1001C>G)
gnomAD v4
16g.67939964G>TCA496092277LCATc.1263C>A (p.Ala421=)
c.266C>A
c.1001C>A (n.1001C>A)
dbSNP gnomAD v3 gnomAD v4
16g.67939965G>ACA396375344LCATc.1262C>T (p.Ala421Val)
c.265C>T
c.1000C>T (n.1000C>T)
16g.67939965G>CCA396375345LCATc.1262C>G (p.Ala421Gly)
c.265C>G
c.1000C>G (n.1000C>G)
16g.67939965G>TCA396375346LCATc.1262C>A (p.Ala421Asp)
c.265C>A
c.1000C>A (n.1000C>A)
16g.67939966C>ACA396375347LCATc.1261G>T (p.Ala421Ser)
c.264G>T
c.999G>T (n.999G>T)
16g.67939966C>GCA396375348LCATc.1261G>C (p.Ala421Pro)
c.264G>C
c.999G>C (n.999G>C)
16g.67939966C>TCA396375349LCATc.1261G>A (p.Ala421Thr)
c.264G>A
c.999G>A (n.999G>A)
16g.67939967A=CA2229563150LCATc.1260T= (p.Gly420=)
c.263T=
c.998T= (n.998T=)
16g.67939967A>CCA496092290LCATc.1260T>G (p.Gly420=)
c.263T>G
c.998T>G (n.998T>G)
16g.67939967A>GCA496092297LCATc.1260T>C (p.Gly420=)
c.263T>C
c.998T>C (n.998T>C)
dbSNP gnomAD v3 gnomAD v4
16g.67939967A>TCA496092298LCATc.1260T>A (p.Gly420=)
c.263T>A
c.998T>A (n.998T>A)
16g.67939968C>ACA396375350LCATc.1259G>T (p.Gly420Val)
c.262G>T
c.997G>T (n.997G>T)
gnomAD v4
16g.67939968C>GCA396375351LCATc.1259G>C (p.Gly420Ala)
c.262G>C
c.997G>C (n.997G>C)
16g.67939968C>TCA396375352LCATc.1259G>A (p.Gly420Asp)
c.262G>A
c.997G>A (n.997G>A)
16g.67939969C>ACA396375355LCATc.1258G>T (p.Gly420Cys)
c.261G>T
c.996G>T (n.996G>T)
16g.67939969C>GCA396375353LCATc.1258G>C (p.Gly420Arg)
c.261G>C
c.996G>C (n.996G>C)
16g.67939969C>TCA396375354LCATc.1258G>A (p.Gly420Ser)
c.261G>A
c.996G>A (n.996G>A)
16g.67939970C>ACA496092307LCATc.1257G>T (p.Leu419=)
c.260G>T
c.995G>T (n.995G>T)
16g.67939970C=CA2229563151LCATc.1257G= (p.Leu419=)
c.260G=
c.995G= (n.995G=)
16g.67939970C>GCA496092310LCATc.1257G>C (p.Leu419=)
c.260G>C
c.995G>C (n.995G>C)
dbSNP gnomAD v2 gnomAD v4
16g.67939970C>TCA496092311LCATc.1257G>A (p.Leu419=)
c.260G>A
c.995G>A (n.995G>A)
16g.67939971A>CCA396375356LCATc.1256T>G (p.Leu419Arg)
c.259T>G
c.994T>G (n.994T>G)
16g.67939971A>GCA396375357LCATc.1256T>C (p.Leu419Pro)
c.259T>C
c.994T>C (n.994T>C)
16g.67939971A>TCA396375358LCATc.1256T>A (p.Leu419Gln)
c.259T>A
c.994T>A (n.994T>A)
16g.67939972G>ACA496092320LCATc.1255C>T (p.Leu419=)
c.258C>T
c.993C>T (n.993C>T)
16g.67939972G>CCA396375359LCATc.1255C>G (p.Leu419Val)
c.258C>G
c.993C>G (n.993C>G)
dbSNP gnomAD v4
16g.67939972G=CA2229563152LCATc.1255C= (p.Leu419=)
c.258C=
c.993C= (n.993C=)
16g.67939972G>TCA396375360LCATc.1255C>A (p.Leu419Met)
c.258C>A
c.993C>A (n.993C>A)
16g.67939973C>ACA496092325LCATc.1254G>T (p.Leu418=)
c.257G>T
c.992G>T (n.992G>T)
16g.67939973C>GCA496092328LCATc.1254G>C (p.Leu418=)
c.257G>C
c.992G>C (n.992G>C)
16g.67939973C>TCA496092331LCATc.1254G>A (p.Leu418=)
c.257G>A
c.992G>A (n.992G>A)
16g.67939974A>CCA396375361LCATc.1253T>G (p.Leu418Arg)
c.256T>G
c.991T>G (n.991T>G)
16g.67939974A>GCA396375362LCATc.1253T>C (p.Leu418Pro)
c.256T>C
c.991T>C (n.991T>C)
16g.67939974A>TCA396375363LCATc.1253T>A (p.Leu418Gln)
c.256T>A
c.991T>A (n.991T>A)
16g.67939975G>ACA496092337LCATc.1252C>T (p.Leu418=)
c.255C>T
c.990C>T (n.990C>T)
dbSNP
16g.67939975G>CCA396375364LCATc.1252C>G (p.Leu418Val)
c.255C>G
c.990C>G (n.990C>G)
16g.67939975G=CA2229563153LCATc.1252C= (p.Leu418=)
c.255C=
c.990C= (n.990C=)
16g.67939975G>TCA396375365LCATc.1252C>A (p.Leu418Met)
c.255C>A
c.990C>A (n.990C>A)
16g.67939976G>ACA496092341LCATc.1251C>T (p.Ile417=)
c.254C>T
c.989C>T (n.989C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.67939976G>CCA396375366LCATc.1251C>G (p.Ile417Met)
c.254C>G
c.989C>G (n.989C>G)
16g.67939976G=CA2229563154LCATc.1251C= (p.Ile417=)
c.254C=
c.989C= (n.989C=)
16g.67939976G>TCA496092345LCATc.1251C>A (p.Ile417=)
c.254C>A
c.989C>A (n.989C>A)
16g.67939977A>CCA396375369LCATc.1250T>G (p.Ile417Ser)
c.253T>G
c.988T>G (n.988T>G)
16g.67939977A>GCA396375368LCATc.1250T>C (p.Ile417Thr)
c.253T>C
c.988T>C (n.988T>C)
16g.67939977A>TCA396375367LCATc.1250T>A (p.Ile417Asn)
c.253T>A
c.988T>A (n.988T>A)
16g.67939978T>ACA396375370LCATc.1249A>T (p.Ile417Phe)
c.252A>T
c.987A>T (n.987A>T)
16g.67939978T>CCA396375371LCATc.1249A>G (p.Ile417Val)
c.252A>G
c.987A>G (n.987A>G)
gnomAD v4
16g.67939978T>GCA396375372LCATc.1249A>C (p.Ile417Leu)
c.252A>C
c.987A>C (n.987A>C)
16g.67939979G>ACA496092359LCATc.1248C>T (p.Ala416=)
c.251C>T
c.986C>T (n.986C>T)
dbSNP gnomAD v3 gnomAD v4
16g.67939979G>CCA496092361LCATc.1248C>G (p.Ala416=)
c.251C>G
c.986C>G (n.986C>G)
16g.67939979G=CA2229563155LCATc.1248C= (p.Ala416=)
c.251C=
c.986C= (n.986C=)
16g.67939979G>TCA496092362LCATc.1248C>A (p.Ala416=)
c.251C>A
c.986C>A (n.986C>A)
16g.67939980G>ACA396375373LCATc.1247C>T (p.Ala416Val)
c.250C>T
c.985C>T (n.985C>T)
16g.67939980G>CCA396375374LCATc.1247C>G (p.Ala416Gly)
c.250C>G
c.985C>G (n.985C>G)
16g.67939980G>TCA396375375LCATc.1247C>A (p.Ala416Asp)
c.250C>A
c.985C>A (n.985C>A)
gnomAD v4
16g.67939981C>ACA396375376LCATc.1246G>T (p.Ala416Ser)
c.249G>T
c.984G>T (n.984G>T)
16g.67939981C>GCA396375377LCATc.1246G>C (p.Ala416Pro)
c.249G>C
c.984G>C (n.984G>C)
16g.67939981C>TCA396375378LCATc.1246G>A (p.Ala416Thr)
c.249G>A
c.984G>A (n.984G>A)
16g.67939983_67940001delCA2576033413LCATc.1228_1246del (p.Thr410ProfsTer?)
c.231_249del
c.966_984del (n.966_984del)
16g.67939982A=CA2229563156LCATc.1245T= (p.Asn415=)
c.248T=
c.983T= (n.983T=)
16g.67939982A>CCA396375379LCATc.1245T>G (p.Asn415Lys)
c.248T>G
c.983T>G (n.983T>G)
16g.67939982A>GCA283160300LCATc.1245T>C (p.Asn415=)
c.248T>C
c.983T>C (n.983T>C)
dbSNP
16g.67939982A>TCA396375380LCATc.1245T>A (p.Asn415Lys)
c.248T>A
c.983T>A (n.983T>A)
16g.67939983T>ACA396375382LCATc.1244A>T (p.Asn415Ile)
c.247A>T
c.982A>T (n.982A>T)
16g.67939983T>CCA8120864LCATc.1244A>G (p.Asn415Ser)
c.247A>G
c.982A>G (n.982A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.67939983T>GCA396375381LCATc.1244A>C (p.Asn415Thr)
c.247A>C
c.982A>C (n.982A>C)
16g.67939983T=CA2229563157LCATc.1244A= (p.Asn415=)
c.247A=
c.982A= (n.982A=)
16g.67939984T>ACA396375383LCATc.1243A>T (p.Asn415Tyr)
c.246A>T
c.981A>T (n.981A>T)
16g.67939984T>CCA396375384LCATc.1243A>G (p.Asn415Asp)
c.246A>G
c.981A>G (n.981A>G)
16g.67939984T>GCA396375385LCATc.1243A>C (p.Asn415His)
c.246A>C
c.981A>C (n.981A>C)
16g.67939985G>ACA496092394LCATc.1242C>T (p.Ile414=)
c.245C>T
c.980C>T (n.980C>T)
16g.67939985G>CCA396375386LCATc.1242C>G (p.Ile414Met)
c.245C>G
c.980C>G (n.980C>G)
16g.67939985G>TCA496092387LCATc.1242C>A (p.Ile414=)
c.245C>A
c.980C>A (n.980C>A)
16g.67939986A>CCA396375387LCATc.1241T>G (p.Ile414Ser)
c.244T>G
c.979T>G (n.979T>G)
16g.67939986A>GCA396375388LCATc.1241T>C (p.Ile414Thr)
c.244T>C
c.979T>C (n.979T>C)
16g.67939986A>TCA396375389LCATc.1241T>A (p.Ile414Asn)
c.244T>A
c.979T>A (n.979T>A)
16g.67939987T>ACA396375390LCATc.1240A>T (p.Ile414Phe)
c.243A>T
c.978A>T (n.978A>T)
16g.67939987T>CCA396375391LCATc.1240A>G (p.Ile414Val)
c.243A>G
c.978A>G (n.978A>G)
16g.67939987T>GCA396375392LCATc.1240A>C (p.Ile414Leu)
c.243A>C
c.978A>C (n.978A>C)
16g.67939988G>ACA8120865LCATc.1239C>T (p.His413=)
c.242C>T
c.977C>T (n.977C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.67939988G>CCA396375393LCATc.1239C>G (p.His413Gln)
c.242C>G
c.977C>G (n.977C>G)
16g.67939988G=CA2229563158LCATc.1239C= (p.His413=)
c.242C=
c.977C= (n.977C=)
16g.67939988G>TCA396375394LCATc.1239C>A (p.His413Gln)
c.242C>A
c.977C>A (n.977C>A)
gnomAD v4
16g.67939989T>ACA396375396LCATc.1238A>T (p.His413Leu)
c.241A>T
c.976A>T (n.976A>T)
16g.67939989T>CCA396375397LCATc.1238A>G (p.His413Arg)
c.241A>G
c.976A>G (n.976A>G)
16g.67939989T>GCA396375395LCATc.1238A>C (p.His413Pro)
c.241A>C
c.976A>C (n.976A>C)
dbSNP gnomAD v3 gnomAD v4
16g.67939989T=CA2229563159LCATc.1238A= (p.His413=)
c.241A=
c.976A= (n.976A=)
16g.67939990G>ACA396375398LCATc.1237C>T (p.His413Tyr)
c.240C>T
c.975C>T (n.975C>T)
16g.67939990G>CCA396375399LCATc.1237C>G (p.His413Asp)
c.240C>G
c.975C>G (n.975C>G)
16g.67939990G>TCA396375400LCATc.1237C>A (p.His413Asn)
c.240C>A
c.975C>A (n.975C>A)
16g.67939991C>ACA396375401LCATc.1236G>T (p.Glu412Asp)
c.239G>T
c.974G>T (n.974G>T)
16g.67939991C>GCA396375402LCATc.1236G>C (p.Glu412Asp)
c.239G>C
c.974G>C (n.974G>C)
16g.67939991C>TCA496092418LCATc.1236G>A (p.Glu412=)
c.239G>A
c.974G>A (n.974G>A)
16g.67939992T>ACA396375405LCATc.1235A>T (p.Glu412Val)
c.238A>T
c.973A>T (n.973A>T)
16g.67939992T>CCA396375404LCATc.1235A>G (p.Glu412Gly)
c.238A>G
c.973A>G (n.973A>G)
16g.67939992T>GCA396375403LCATc.1235A>C (p.Glu412Ala)
c.238A>C
c.973A>C (n.973A>C)
16g.67939992_67939993delinsTCCA2229563160LCATc.1234_1235delinsGA (p.Glu412=)
c.237_238delinsGA
c.972_973delinsGA (n.972_973delinsGA)
16g.67939993C>ACA396375406LCATc.1234G>T (p.Glu412Ter)
c.237G>T
c.972G>T (n.972G>T)
16g.67939993C=CA2229563161LCATc.1234G= (p.Glu412=)
c.237G=
c.972G= (n.972G=)
16g.67939993C>GCA396375407LCATc.1234G>C (p.Glu412Gln)
c.237G>C
c.972G>C (n.972G>C)
16g.67939993C>TCA8120866LCATc.1234G>A (p.Glu412Lys)
c.237G>A
c.972G>A (n.972G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.67939994delCA623122721LCATc.1234del (p.Glu412SerfsTer?)
c.237del
c.972del (n.972del)
dbSNP gnomAD v2 gnomAD v4
16g.67939994C>ACA496092431LCATc.1233G>T (p.Leu411=)
c.236G>T
c.971G>T (n.971G>T)
16g.67939994C>GCA496092432LCATc.1233G>C (p.Leu411=)
c.236G>C
c.971G>C (n.971G>C)
16g.67939994C>TCA496092435LCATc.1233G>A (p.Leu411=)
c.236G>A
c.971G>A (n.971G>A)
16g.67939995A>CCA396375408LCATc.1232T>G (p.Leu411Arg)
c.235T>G
c.970T>G (n.970T>G)
gnomAD v4
16g.67939995A>GCA396375409LCATc.1232T>C (p.Leu411Pro)
c.235T>C
c.970T>C (n.970T>C)
16g.67939995A>TCA396375410LCATc.1232T>A (p.Leu411Gln)
c.235T>A
c.970T>A (n.970T>A)
16g.67939996G>ACA283160324LCATc.1231C>T (p.Leu411=)
c.234C>T
c.969C>T (n.969C>T)
dbSNP
16g.67939996G>CCA396375411LCATc.1231C>G (p.Leu411Val)
c.234C>G
c.969C>G (n.969C>G)
dbSNP gnomAD v2 gnomAD v4
16g.67939996G=CA2229563162LCATc.1231C= (p.Leu411=)
c.234C=
c.969C= (n.969C=)
16g.67939996G>TCA396375412LCATc.1231C>A (p.Leu411Met)
c.234C>A
c.969C>A (n.969C>A)
16g.67939997G>ACA283160338LCATc.1230C>T (p.Thr410=)
c.233C>T
c.968C>T (n.968C>T)
dbSNP
16g.67939997G>CCA496092454LCATc.1230C>G (p.Thr410=)
c.233C>G
c.968C>G (n.968C>G)
gnomAD v4
16g.67939997G=CA2229563163LCATc.1230C= (p.Thr410=)
c.233C=
c.968C= (n.968C=)
16g.67939997G>TCA496092456LCATc.1230C>A (p.Thr410=)
c.233C>A
c.968C>A (n.968C>A)
gnomAD v4
16g.67939998G>ACA396375413LCATc.1229C>T (p.Thr410Ile)
c.232C>T
c.967C>T (n.967C>T)
16g.67939998G>CCA396375414LCATc.1229C>G (p.Thr410Ser)
c.232C>G
c.967C>G (n.967C>G)
16g.67939998G>TCA396375415LCATc.1229C>A (p.Thr410Asn)
c.232C>A
c.967C>A (n.967C>A)
16g.67939999T>ACA396375416LCATc.1228A>T (p.Thr410Ser)
c.231A>T
c.966A>T (n.966A>T)
16g.67939999T>CCA396375417LCATc.1228A>G (p.Thr410Ala)
c.231A>G
c.966A>G (n.966A>G)
16g.67939999T>GCA396375418LCATc.1228A>C (p.Thr410Pro)
c.231A>C
c.966A>C (n.966A>C)
gnomAD v4
16g.67940000C>ACA496092461LCATc.1227G>T (p.Leu409=)
c.230G>T
c.965G>T (n.965G>T)
16g.67940000C>GCA496092463LCATc.1227G>C (p.Leu409=)
c.230G>C
c.965G>C (n.965G>C)
16g.67940000C>TCA496092466LCATc.1227G>A (p.Leu409=)
c.230G>A
c.965G>A (n.965G>A)
16g.67940001A=CA2229563164LCATc.1226T= (p.Leu409=)
c.229T=
c.964T= (n.964T=)
16g.67940001A>CCA396375419LCATc.1226T>G (p.Leu409Arg)
c.229T>G
c.964T>G (n.964T>G)
16g.67940001A>GCA396375421LCATc.1226T>C (p.Leu409Pro)
c.229T>C
c.964T>C (n.964T>C)
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.67940001A>TCA396375420LCATc.1226T>A (p.Leu409Gln)
c.229T>A
c.964T>A (n.964T>A)
16g.67940002G>ACA496092476LCATc.1225C>T (p.Leu409=)
c.228C>T
c.963C>T (n.963C>T)
gnomAD v4
16g.67940002G>CCA396375422LCATc.1225C>G (p.Leu409Val)
c.228C>G
c.963C>G (n.963C>G)
gnomAD v4
16g.67940002G>TCA396375423LCATc.1225C>A (p.Leu409Met)
c.228C>A
c.963C>A (n.963C>A)
16g.67940003G>ACA496092481LCATc.1224C>T (p.Asn408=)
c.227C>T
c.962C>T (n.962C>T)
16g.67940003G>CCA396375424LCATc.1224C>G (p.Asn408Lys)
c.227C>G
c.962C>G (n.962C>G)
16g.67940003G>TCA396375425LCATc.1224C>A (p.Asn408Lys)
c.227C>A
c.962C>A (n.962C>A)
16g.67940004T>ACA396375426LCATc.1223A>T (p.Asn408Ile)
c.226A>T
c.961A>T (n.961A>T)
16g.67940004T>CCA396375428LCATc.1223A>G (p.Asn408Ser)
c.226A>G
c.961A>G (n.961A>G)
ClinVar
16g.67940004T>GCA396375427LCATc.1223A>C (p.Asn408Thr)
c.226A>C
c.961A>C (n.961A>C)
dbSNP
16g.67940004T=CA2229563165LCATc.1223A= (p.Asn408=)
c.226A=
c.961A= (n.961A=)
16g.67940005T>ACA396375429LCATc.1222A>T (p.Asn408Tyr)
c.225A>T
c.960A>T (n.960A>T)
16g.67940005T>CCA396375430LCATc.1222A>G (p.Asn408Asp)
c.225A>G
c.960A>G (n.960A>G)
16g.67940005T>GCA396375431LCATc.1222A>C (p.Asn408His)
c.225A>C
c.960A>C (n.960A>C)
16g.67940006G>ACA496092497LCATc.1221C>T (p.Ser407=)
c.224C>T
c.959C>T (n.959C>T)
16g.67940006G>CCA396375432LCATc.1221C>G (p.Ser407Arg)
c.224C>G
c.959C>G (n.959C>G)
16g.67940006G>TCA396375433LCATc.1221C>A (p.Ser407Arg)
c.224C>A
c.959C>A (n.959C>A)
16g.67940007C>ACA396375434LCATc.1220G>T (p.Ser407Ile)
c.223G>T
c.958G>T (n.958G>T)
16g.67940007C=CA2229563166LCATc.1220G= (p.Ser407=)
c.223G=
c.958G= (n.958G=)
16g.67940007C>GCA396375435LCATc.1220G>C (p.Ser407Thr)
c.223G>C
c.958G>C (n.958G>C)
16g.67940007C>TCA283160358LCATc.1220G>A (p.Ser407Asn)
c.223G>A
c.958G>A (n.958G>A)
dbSNP gnomAD v4
16g.67940008T>ACA396375436LCATc.1219A>T (p.Ser407Cys)
c.222A>T
c.957A>T (n.957A>T)
16g.67940008T>CCA396375437LCATc.1219A>G (p.Ser407Gly)
c.222A>G
c.957A>G (n.957A>G)
gnomAD v4
16g.67940008T>GCA396375438LCATc.1219A>C (p.Ser407Arg)
c.222A>C
c.957A>C (n.957A>C)
gnomAD v4
16g.67940009G>ACA496092505LCATc.1218C>T (p.Phe406=)
c.221C>T
c.956C>T (n.956C>T)
16g.67940009G>CCA396375439LCATc.1218C>G (p.Phe406Leu)
c.221C>G
c.956C>G (n.956C>G)
16g.67940009G>TCA396375440LCATc.1218C>A (p.Phe406Leu)
c.221C>A
c.956C>A (n.956C>A)
16g.67940010A>CCA396375443LCATc.1217T>G (p.Phe406Cys)
c.220T>G
c.955T>G (n.955T>G)
16g.67940010A>GCA396375441LCATc.1217T>C (p.Phe406Ser)
c.220T>C
c.955T>C (n.955T>C)
16g.67940010A>TCA396375442LCATc.1217T>A (p.Phe406Tyr)
c.220T>A
c.955T>A (n.955T>A)
16g.67940011A>CCA396375444LCATc.1216T>G (p.Phe406Val)
c.219T>G
c.954T>G (n.954T>G)
gnomAD v4
16g.67940011A>GCA396375445LCATc.1216T>C (p.Phe406Leu)
c.219T>C
c.954T>C (n.954T>C)
16g.67940011A>TCA396375446LCATc.1216T>A (p.Phe406Ile)
c.219T>A
c.954T>A (n.954T>A)
16g.67940012G>ACA496092510LCATc.1215C>T (p.Val405=)
c.218C>T
c.953C>T (n.953C>T)
16g.67940012G>CCA496092509LCATc.1215C>G (p.Val405=)
c.218C>G
c.953C>G (n.953C>G)
16g.67940012G>TCA496092507LCATc.1215C>A (p.Val405=)
c.218C>A
c.953C>A (n.953C>A)
16g.67940013A>CCA396375447LCATc.1214T>G (p.Val405Gly)
c.217T>G
c.952T>G (n.952T>G)
16g.67940013A>GCA396375448LCATc.1214T>C (p.Val405Ala)
c.217T>C
c.952T>C (n.952T>C)
gnomAD v4
16g.67940013A>TCA396375449LCATc.1214T>A (p.Val405Asp)
c.217T>A
c.952T>A (n.952T>A)
16g.67940014C>ACA396375450LCATc.1213G>T (p.Val405Phe)
c.216G>T
c.951G>T (n.951G>T)
16g.67940014C>GCA396375451LCATc.1213G>C (p.Val405Leu)
c.216G>C
c.951G>C (n.951G>C)
gnomAD v4
16g.67940014C>TCA396375452LCATc.1213G>A (p.Val405Ile)
c.216G>A
c.951G>A (n.951G>A)
gnomAD v4
16g.67940015C>ACA396375453LCATc.1212G>T (p.Met404Ile)
c.215G>T
c.950G>T (n.950G>T)
16g.67940015C>GCA396375454LCATc.1212G>C (p.Met404Ile)
c.215G>C
c.950G>C (n.950G>C)
16g.67940015C>TCA396375455LCATc.1212G>A (p.Met404Ile)
c.215G>A
c.950G>A (n.950G>A)
16g.67940016A>CCA396375456LCATc.1211T>G (p.Met404Arg)
c.214T>G
c.949T>G (n.949T>G)
16g.67940016A>GCA396375458LCATc.1211T>C (p.Met404Thr)
c.214T>C
c.949T>C (n.949T>C)
gnomAD v4
16g.67940016A>TCA396375457LCATc.1211T>A (p.Met404Lys)
c.214T>A
c.949T>A (n.949T>A)
16g.67940017T>ACA396375459LCATc.1210A>T (p.Met404Leu)
c.213A>T
c.948A>T (n.948A>T)
16g.67940017T>CCA8120867LCATc.1210A>G (p.Met404Val)
c.213A>G
c.948A>G (n.948A>G)
ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
16g.67940017T>GCA396375460LCATc.1210A>C (p.Met404Leu)
c.213A>C
c.948A>C (n.948A>C)
16g.67940017T=CA2229563167LCATc.1210A= (p.Met404=)
c.213A=
c.948A= (n.948A=)
16g.67940018G>ACA496092518LCATc.1209C>T (p.Asn403=)
c.212C>T
c.947C>T (n.947C>T)
dbSNP gnomAD v3 gnomAD v4
16g.67940018G>CCA396375461LCATc.1209C>G (p.Asn403Lys)
c.212C>G
c.947C>G (n.947C>G)
16g.67940018G=CA2229563168LCATc.1209C= (p.Asn403=)
c.212C=
c.947C= (n.947C=)
16g.67940018G>TCA396375462LCATc.1209C>A (p.Asn403Lys)
c.212C>A
c.947C>A (n.947C>A)
16g.67940019T>ACA396375465LCATc.1208A>T (p.Asn403Ile)
c.211A>T
c.946A>T (n.946A>T)
16g.67940019T>CCA396375464LCATc.1208A>G (p.Asn403Ser)
c.211A>G
c.946A>G (n.946A>G)
16g.67940019T>GCA396375463LCATc.1208A>C (p.Asn403Thr)
c.211A>C
c.946A>C (n.946A>C)
16g.67940020T>ACA396375466LCATc.1207A>T (p.Asn403Tyr)
c.210A>T
c.945A>T (n.945A>T)
16g.67940020T>CCA396375467LCATc.1207A>G (p.Asn403Asp)
c.210A>G
c.945A>G (n.945A>G)
16g.67940020T>GCA396375468LCATc.1207A>C (p.Asn403His)
c.210A>C
c.945A>C (n.945A>C)
16g.67940021G>ACA496092520LCATc.1206C>T (p.Leu402=)
c.209C>T
c.944C>T (n.944C>T)
16g.67940021G>CCA496092521LCATc.1206C>G (p.Leu402=)
c.209C>G
c.944C>G (n.944C>G)
16g.67940021G>TCA496092525LCATc.1206C>A (p.Leu402=)
c.209C>A
c.944C>A (n.944C>A)
16g.67940023_67940024delCA2532360751LCATc.1205_1206del (p.Leu402GlnfsTer?)
c.208_209del
c.943_944del (n.943_944del)
16g.67940022A>CCA396375469LCATc.1205T>G (p.Leu402Arg)
c.208T>G
c.943T>G (n.943T>G)
16g.67940022A>GCA396375470LCATc.1205T>C (p.Leu402Pro)
c.208T>C
c.943T>C (n.943T>C)
16g.67940022A>TCA396375471LCATc.1205T>A (p.Leu402His)
c.208T>A
c.943T>A (n.943T>A)
16g.67940023G>ACA396375474LCATc.1204C>T (p.Leu402Phe)
c.207C>T
c.942C>T (n.942C>T)
16g.67940023G>CCA396375472LCATc.1204C>G (p.Leu402Val)
c.207C>G
c.942C>G (n.942C>G)
16g.67940023G>TCA396375473LCATc.1204C>A (p.Leu402Ile)
c.207C>A
c.942C>A (n.942C>A)
16g.67940024A>CCA396375475LCATc.1203T>G (p.His401Gln)
c.206T>G
c.941T>G (n.941T>G)
16g.67940024A>GCA496092533LCATc.1203T>C (p.His401=)
c.206T>C
c.941T>C (n.941T>C)
16g.67940024A>TCA396375476LCATc.1203T>A (p.His401Gln)
c.206T>A
c.941T>A (n.941T>A)
16g.67940025T>ACA396375477LCATc.1202A>T (p.His401Leu)
c.205A>T
c.940A>T (n.940A>T)
16g.67940025T>CCA396375478LCATc.1202A>G (p.His401Arg)
c.205A>G
c.940A>G (n.940A>G)
16g.67940025T>GCA396375479LCATc.1202A>C (p.His401Pro)
c.205A>C
c.940A>C (n.940A>C)
16g.67940026G>ACA396375480LCATc.1201C>T (p.His401Tyr)
c.204C>T
c.939C>T (n.939C>T)
16g.67940026G>CCA396375481LCATc.1201C>G (p.His401Asp)
c.204C>G
c.939C>G (n.939C>G)
16g.67940026G>TCA396375482LCATc.1201C>A (p.His401Asn)
c.204C>A
c.939C>A (n.939C>A)
16g.67940027C>ACA8120868LCATc.1200G>T (p.Gln400His)
c.203G>T
c.938G>T (n.938G>T)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.67940027C=CA2229563169LCATc.1200G= (p.Gln400=)
c.203G=
c.938G= (n.938G=)
16g.67940027C>GCA396375483LCATc.1200G>C (p.Gln400His)
c.203G>C
c.938G>C (n.938G>C)
16g.67940027C>TCA496092545LCATc.1200G>A (p.Gln400=)
c.203G>A
c.938G>A (n.938G>A)
16g.67940028T>ACA396375484LCATc.1199A>T (p.Gln400Leu)
c.202A>T
c.937A>T (n.937A>T)
16g.67940028T>CCA396375485LCATc.1199A>G (p.Gln400Arg)
c.202A>G
c.937A>G (n.937A>G)
16g.67940028T>GCA396375486LCATc.1199A>C (p.Gln400Pro)
c.202A>C
c.937A>C (n.937A>C)
16g.67940029G>ACA396375487LCATc.1198C>T (p.Gln400Ter)
c.201C>T
c.936C>T (n.936C>T)
dbSNP gnomAD v4
16g.67940029G>CCA396375489LCATc.1198C>G (p.Gln400Glu)
c.201C>G
c.936C>G (n.936C>G)
16g.67940029G=CA2229563170LCATc.1198C= (p.Gln400=)
c.201C=
c.936C= (n.936C=)
16g.67940029G>TCA396375488LCATc.1198C>A (p.Gln400Lys)
c.201C>A
c.936C>A (n.936C>A)
16g.67940030T>ACA496092553LCATc.1197A>T (p.Ile399=)
c.200A>T
c.935A>T (n.935A>T)
16g.67940030T>CCA396375490LCATc.1197A>G (p.Ile399Met)
c.200A>G
c.935A>G (n.935A>G)
16g.67940030T>GCA496092555LCATc.1197A>C (p.Ile399=)
c.200A>C
c.935A>C (n.935A>C)
16g.67940030dupCA116424LCATc.1197dup (p.Gln400ThrfsTer?)
c.200dup
c.935dup (n.935dup)
ClinVar dbSNP
16g.67940031A>CCA396375491LCATc.1196T>G (p.Ile399Arg)
c.199T>G
c.934T>G (n.934T>G)
16g.67940031A>GCA396375492LCATc.1196T>C (p.Ile399Thr)
c.199T>C
c.934T>C (n.934T>C)
16g.67940031A>TCA396375493LCATc.1196T>A (p.Ile399Lys)
c.199T>A
c.934T>A (n.934T>A)
16g.67940032T>ACA396375496LCATc.1195A>T (p.Ile399Leu)
c.198A>T
c.933A>T (n.933A>T)
16g.67940032T>CCA396375495LCATc.1195A>G (p.Ile399Val)
c.198A>G
c.933A>G (n.933A>G)
16g.67940032T>GCA396375494LCATc.1195A>C (p.Ile399Leu)
c.198A>C
c.933A>C (n.933A>C)
16g.67940033C>ACA496092575LCATc.1194G>T (p.Gly398=)
c.197G>T
c.932G>T (n.932G>T)
16g.67940033C=CA2229563171LCATc.1194G= (p.Gly398=)
c.197G=
c.932G= (n.932G=)
16g.67940033C>GCA496092569LCATc.1194G>C (p.Gly398=)
c.197G>C
c.932G>C (n.932G>C)
dbSNP
16g.67940033C>TCA496092573LCATc.1194G>A (p.Gly398=)
c.197G>A
c.932G>A (n.932G>A)
16g.67940034C>ACA396375497LCATc.1193G>T (p.Gly398Val)
c.196G>T
c.931G>T (n.931G>T)
16g.67940034C=CA2229563172LCATc.1193G= (p.Gly398=)
c.196G=
c.931G= (n.931G=)
16g.67940034C>GCA396375498LCATc.1193G>C (p.Gly398Ala)
c.196G>C
c.931G>C (n.931G>C)
16g.67940034C>TCA283160392LCATc.1193G>A (p.Gly398Glu)
c.196G>A
c.931G>A (n.931G>A)
dbSNP gnomAD v4
16g.67940035C>ACA396375499LCATc.1192G>T (p.Gly398Trp)
c.195G>T
c.930G>T (n.930G>T)
16g.67940035C=CA2229563173LCATc.1192G= (p.Gly398=)
c.195G=
c.930G= (n.930G=)
16g.67940035C>GCA396375500LCATc.1192G>C (p.Gly398Arg)
c.195G>C
c.930G>C (n.930G>C)
16g.67940035C>TCA8120869LCATc.1192G>A (p.Gly398Arg)
c.195G>A
c.930G>A (n.930G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.67940036G>ACA8120870LCATc.1191C>T (p.His397=)
c.194C>T
c.929C>T (n.929C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.67940036G>CCA396375502LCATc.1191C>G (p.His397Gln)
c.194C>G
c.929C>G (n.929C>G)
16g.67940036G=CA2229563174LCATc.1191C= (p.His397=)
c.194C=
c.929C= (n.929C=)
16g.67940036G>TCA396375501LCATc.1191C>A (p.His397Gln)
c.194C>A
c.929C>A (n.929C>A)
16g.67940037T>ACA396375503LCATc.1190A>T (p.His397Leu)
c.193A>T
c.928A>T (n.928A>T)
gnomAD v4
16g.67940037T>CCA396375504LCATc.1190A>G (p.His397Arg)
c.193A>G
c.928A>G (n.928A>G)
16g.67940037T>GCA396375505LCATc.1190A>C (p.His397Pro)
c.193A>C
c.928A>C (n.928A>C)
16g.67940038G>ACA396375506LCATc.1189C>T (p.His397Tyr)
c.192C>T
c.927C>T (n.927C>T)
16g.67940038G>CCA396375507LCATc.1189C>G (p.His397Asp)
c.192C>G
c.927C>G (n.927C>G)
gnomAD v4
16g.67940038G=CA2229563175LCATc.1189C= (p.His397=)
c.192C=
c.927C= (n.927C=)
16g.67940038G>TCA396375508LCATc.1189C>A (p.His397Asn)
c.192C>A
c.927C>A (n.927C>A)
dbSNP
16g.67940039C>ACA496092601LCATc.1188G>T (p.Leu396=)
c.191G>T
c.926G>T (n.926G>T)
16g.67940039C=CA2229563176LCATc.1188G= (p.Leu396=)
c.191G=
c.926G= (n.926G=)
16g.67940039C>GCA496092603LCATc.1188G>C (p.Leu396=)
c.191G>C
c.926G>C (n.926G>C)
16g.67940039C>TCA283160393LCATc.1188G>A (p.Leu396=)
c.191G>A
c.926G>A (n.926G>A)
ClinVar dbSNP gnomAD v4
16g.67940040A>CCA396375509LCATc.1187T>G (p.Leu396Arg)
c.190T>G
c.925T>G (n.925T>G)
gnomAD v4
16g.67940040A>GCA396375510LCATc.1187T>C (p.Leu396Pro)
c.190T>C
c.925T>C (n.925T>C)
16g.67940040A>TCA396375511LCATc.1187T>A (p.Leu396Gln)
c.190T>A
c.925T>A (n.925T>A)
16g.67940041G>ACA496092618LCATc.1186C>T (p.Leu396=)
c.189C>T
c.924C>T (n.924C>T)
gnomAD v4
16g.67940041G>CCA396375512LCATc.1186C>G (p.Leu396Val)
c.189C>G
c.924C>G (n.924C>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.67940041G=CA2229563177LCATc.1186C= (p.Leu396=)
c.189C=
c.924C= (n.924C=)
16g.67940041G>TCA396375513LCATc.1186C>A (p.Leu396Met)
c.189C>A
c.924C>A (n.924C>A)
dbSNP
16g.67940042G>ACA8120871LCATc.1185C>T (p.Pro395=)
c.188C>T
c.923C>T (n.923C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.67940042G>CCA496092624LCATc.1185C>G (p.Pro395=)
c.188C>G
c.923C>G (n.923C>G)
16g.67940042G=CA2229563178LCATc.1185C= (p.Pro395=)
c.188C=
c.923C= (n.923C=)
16g.67940042G>TCA496092625LCATc.1185C>A (p.Pro395=)
c.188C>A
c.923C>A (n.923C>A)
dbSNP gnomAD v2
16g.67940043G>ACA396375515LCATc.1184C>T (p.Pro395Leu)
c.187C>T
c.922C>T (n.922C>T)
gnomAD v4
16g.67940043G>CCA396375514LCATc.1184C>G (p.Pro395Arg)
c.187C>G
c.922C>G (n.922C>G)
16g.67940043G>TCA396375516LCATc.1184C>A (p.Pro395His)
c.187C>A
c.922C>A (n.922C>A)
16g.67940044G>ACA396375517LCATc.1183C>T (p.Pro395Ser)
c.186C>T
c.921C>T (n.921C>T)
16g.67940044G>CCA396375519LCATc.1183C>G (p.Pro395Ala)
c.186C>G
c.921C>G (n.921C>G)
gnomAD v4
16g.67940044G>TCA396375518LCATc.1183C>A (p.Pro395Thr)
c.186C>A
c.921C>A (n.921C>A)
16g.67940045C>ACA283160399LCATc.1182G>T (p.Leu394=)
c.185G>T
c.920G>T (n.920G>T)
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.67940045C=CA2229563179LCATc.1182G= (p.Leu394=)
c.185G=
c.920G= (n.920G=)
16g.67940045C>GCA496092633LCATc.1182G>C (p.Leu394=)
c.185G>C
c.920G>C (n.920G>C)
16g.67940045C>TCA496092635LCATc.1182G>A (p.Leu394=)
c.185G>A
c.920G>A (n.920G>A)
16g.67940046A>CCA396375520LCATc.1181T>G (p.Leu394Arg)
c.184T>G
c.919T>G (n.919T>G)
16g.67940046A>GCA396375522LCATc.1181T>C (p.Leu394Pro)
c.184T>C
c.919T>C (n.919T>C)
16g.67940046A>TCA396375521LCATc.1181T>A (p.Leu394Gln)
c.184T>A
c.919T>A (n.919T>A)
16g.67940047G>ACA496092640LCATc.1180C>T (p.Leu394=)
c.183C>T
c.918C>T (n.918C>T)
gnomAD v4
16g.67940047G>CCA396375523LCATc.1180C>G (p.Leu394Val)
c.183C>G
c.918C>G (n.918C>G)
16g.67940047G>TCA396375524LCATc.1180C>A (p.Leu394Met)
c.183C>A
c.918C>A (n.918C>A)
16g.67940048C>ACA496092644LCATc.1179G>T (p.Leu393=)
c.182G>T
c.917G>T (n.917G>T)
16g.67940048C>GCA496092645LCATc.1179G>C (p.Leu393=)
c.182G>C
c.917G>C (n.917G>C)
16g.67940048C>TCA496092648LCATc.1179G>A (p.Leu393=)
c.182G>A
c.917G>A (n.917G>A)
16g.67940049A>CCA396375525LCATc.1178T>G (p.Leu393Arg)
c.181T>G
c.916T>G (n.916T>G)
16g.67940049A>GCA396375526LCATc.1178T>C (p.Leu393Pro)
c.181T>C
c.916T>C (n.916T>C)
16g.67940049A>TCA396375527LCATc.1178T>A (p.Leu393Gln)
c.181T>A
c.916T>A (n.916T>A)
16g.67940050G>ACA8120872LCATc.1177C>T (p.Leu393=)
c.180C>T
c.915C>T (n.915C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.67940050G>CCA396375528LCATc.1177C>G (p.Leu393Val)
c.180C>G
c.915C>G (n.915C>G)
16g.67940050G=CA2229563180LCATc.1177C= (p.Leu393=)
c.180C=
c.915C= (n.915C=)
16g.67940050G>TCA396375529LCATc.1177C>A (p.Leu393Met)
c.180C>A
c.915C>A (n.915C>A)
16g.67940051G>ACA496092659LCATc.1176C>T (p.His392=)
c.179C>T
c.914C>T (n.914C>T)
dbSNP
16g.67940051G>CCA396375530LCATc.1176C>G (p.His392Gln)
c.179C>G
c.914C>G (n.914C>G)
16g.67940051G=CA2229563181LCATc.1176C= (p.His392=)
c.179C=
c.914C= (n.914C=)
16g.67940051G>TCA396375531LCATc.1176C>A (p.His392Gln)
c.179C>A
c.914C>A (n.914C>A)
16g.67940052T>ACA396375534LCATc.1175A>T (p.His392Leu)
c.178A>T
c.913A>T (n.913A>T)
16g.67940052T>CCA396375532LCATc.1175A>G (p.His392Arg)
c.178A>G
c.913A>G (n.913A>G)
dbSNP gnomAD v2 gnomAD v4
16g.67940052T>GCA396375533LCATc.1175A>C (p.His392Pro)
c.178A>C
c.913A>C (n.913A>C)
16g.67940052T=CA2229563182LCATc.1175A= (p.His392=)
c.178A=
c.913A= (n.913A=)

Number of alleles fetched