Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.169549811C>ACA343124115F5c.1601G>T (p.Arg534Leu)
c.1190G>T (p.Arg397Leu)
dbSNP
1g.169549811C=CA1234291F5c.1601G= (p.Arg534=)
c.1190G= (p.Arg397=)
1g.169549811C>GCA343124116F5c.1601G>C (p.Arg534Pro)
c.1190G>C (p.Arg397Pro)
1g.169549811C>TCA114378F5c.1601G>A (p.Arg534Gln)
c.1190G>A (p.Arg397Gln)
ClinVar dbSNP gnomAD v3 gnomAD v4
1g.169549812G>ACA1234292F5c.1600C>T (p.Arg534Ter)
c.1189C>T (p.Arg397Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.169549812G>CCA343124119F5c.1600C>G (p.Arg534Gly)
c.1189C>G (p.Arg397Gly)
1g.169549812G=CA1206144170F5c.1600C= (p.Arg534=)
c.1189C= (p.Arg397=)
1g.169549812G>TCA421730750F5c.1600C>A (p.Arg534=)
c.1189C>A (p.Arg397=)
gnomAD v4
1g.169549812_169549813delinsGCCA1206144173F5c.1599_1600delinsGC (p.Arg533=)
c.1188_1189delinsGC (p.Arg396=)
1g.169549813C>ACA343124121F5c.1599G>T (p.Arg533Ser)
c.1188G>T (p.Arg396Ser)
1g.169549813C=CA1206144182F5c.1599G= (p.Arg533=)
c.1188G= (p.Arg396=)
1g.169549813C>GCA343124123F5c.1599G>C (p.Arg533Ser)
c.1188G>C (p.Arg396Ser)
1g.169549813C>TCA32387528F5c.1599G>A (p.Arg533=)
c.1188G>A (p.Arg396=)
dbSNP gnomAD v2 gnomAD v4
1g.169549814delCA526711274F5c.1599del (p.Arg533SerfsTer?)
c.1188del (p.Arg396SerfsTer?)
dbSNP gnomAD v2 gnomAD v4
1g.169549814C>ACA343124125F5c.1598G>T (p.Arg533Met)
c.1187G>T (p.Arg396Met)
1g.169549814C=CA1206144183F5c.1598G= (p.Arg533=)
c.1187G= (p.Arg396=)
1g.169549814C>GCA343124126F5c.1598G>C (p.Arg533Thr)
c.1187G>C (p.Arg396Thr)
1g.169549814C>TCA343124128F5c.1598G>A (p.Arg533Lys)
c.1187G>A (p.Arg396Lys)
dbSNP gnomAD v2 gnomAD v4
1g.169549815T>ACA343124129F5c.1597A>T (p.Arg533Trp)
c.1186A>T (p.Arg396Trp)
1g.169549815T>CCA343124131F5c.1597A>G (p.Arg533Gly)
c.1186A>G (p.Arg396Gly)
1g.169549815T>GCA421730756F5c.1597A>C (p.Arg533=)
c.1186A>C (p.Arg396=)
1g.169549816G>ACA421730758F5c.1596C>T (p.Asp532=)
c.1185C>T (p.Asp395=)
1g.169549816G>CCA343124133F5c.1596C>G (p.Asp532Glu)
c.1185C>G (p.Asp395Glu)
1g.169549816G>TCA343124134F5c.1596C>A (p.Asp532Glu)
c.1185C>A (p.Asp395Glu)
1g.169549817T>ACA343124136F5c.1595A>T (p.Asp532Val)
c.1184A>T (p.Asp395Val)
1g.169549817T>CCA343124137F5c.1595A>G (p.Asp532Gly)
c.1184A>G (p.Asp395Gly)
1g.169549817T>GCA343124139F5c.1595A>C (p.Asp532Ala)
c.1184A>C (p.Asp395Ala)
1g.169549818C>ACA343124140F5c.1594G>T (p.Asp532Tyr)
c.1183G>T (p.Asp395Tyr)
1g.169549818C>GCA343124142F5c.1594G>C (p.Asp532His)
c.1183G>C (p.Asp395His)
1g.169549818C>TCA343124143F5c.1594G>A (p.Asp532Asn)
c.1183G>A (p.Asp395Asn)
gnomAD v4
1g.169549819C>ACA421730762F5c.1593G>T (p.Leu531=)
c.1182G>T (p.Leu394=)
1g.169549819C=CA1206144184F5c.1593G= (p.Leu531=)
c.1182G= (p.Leu394=)
1g.169549819C>GCA421730764F5c.1593G>C (p.Leu531=)
c.1182G>C (p.Leu394=)
1g.169549819C>TCA421730759F5c.1593G>A (p.Leu531=)
c.1182G>A (p.Leu394=)
dbSNP gnomAD v4
1g.169549820A>CCA343124145F5c.1592T>G (p.Leu531Arg)
c.1181T>G (p.Leu394Arg)
1g.169549820A>GCA343124147F5c.1592T>C (p.Leu531Pro)
c.1181T>C (p.Leu394Pro)
1g.169549820A>TCA343124148F5c.1592T>A (p.Leu531Gln)
c.1181T>A (p.Leu394Gln)
1g.169549821G>ACA421730765F5c.1591C>T (p.Leu531=)
c.1180C>T (p.Leu394=)
dbSNP
1g.169549821G>CCA343124152F5c.1591C>G (p.Leu531Val)
c.1180C>G (p.Leu394Val)
1g.169549821G=CA1206144186F5c.1591C= (p.Leu531=)
c.1180C= (p.Leu394=)
1g.169549821G>TCA343124150F5c.1591C>A (p.Leu531Met)
c.1180C>A (p.Leu394Met)
1g.169549823delCA2649035351F5c.1591del (p.Leu531TrpfsTer?)
c.1180del (p.Leu394TrpfsTer?)
gnomAD v4
1g.169549822G>ACA421730770F5c.1590C>T (p.Ser530=)
c.1179C>T (p.Ser393=)
1g.169549822G>CCA421730768F5c.1590C>G (p.Ser530=)
c.1179C>G (p.Ser393=)
1g.169549822G>TCA421730769F5c.1590C>A (p.Ser530=)
c.1179C>A (p.Ser393=)
1g.169549823G>ACA343124153F5c.1589C>T (p.Ser530Phe)
c.1178C>T (p.Ser393Phe)
COSMIC
1g.169549823G>CCA343124154F5c.1589C>G (p.Ser530Cys)
c.1178C>G (p.Ser393Cys)
1g.169549823G=CA1206144188F5c.1589C= (p.Ser530=)
c.1178C= (p.Ser393=)
1g.169549823G>TCA343124156F5c.1589C>A (p.Ser530Tyr)
c.1178C>A (p.Ser393Tyr)
dbSNP gnomAD v3 gnomAD v4 COSMIC
1g.169549824A>CCA343124158F5c.1588T>G (p.Ser530Ala)
c.1177T>G (p.Ser393Ala)

Number of alleles fetched