Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.169541812C>ACA343118724F5c.3278G>T (p.Trp1093Leu)
c.3293G>T (p.Trp1098Leu)
c.2867G>T (p.Trp956Leu)
1g.169541812C>GCA343118726F5c.3278G>C (p.Trp1093Ser)
c.3293G>C (p.Trp1098Ser)
c.2867G>C (p.Trp956Ser)
1g.169541812C>TCA343118728F5c.3278G>A (p.Trp1093Ter)
c.3293G>A (p.Trp1098Ter)
c.2867G>A (p.Trp956Ter)
1g.169541813A=CA1206132460F5c.3277T= (p.Trp1093=)
c.3292T= (p.Trp1098=)
c.2866T= (p.Trp956=)
1g.169541813A>CCA343118730F5c.3277T>G (p.Trp1093Gly)
c.3292T>G (p.Trp1098Gly)
c.2866T>G (p.Trp956Gly)
1g.169541813A>GCA343118732F5c.3277T>C (p.Trp1093Arg)
c.3292T>C (p.Trp1098Arg)
c.2866T>C (p.Trp956Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.169541813A>TCA343118734F5c.3277T>A (p.Trp1093Arg)
c.3292T>A (p.Trp1098Arg)
c.2866T>A (p.Trp956Arg)
1g.169541814G>ACA421930677F5c.3276C>T (p.Gly1092=)
c.3291C>T (p.Gly1097=)
c.2865C>T (p.Gly955=)
1g.169541814G>CCA421930678F5c.3276C>G (p.Gly1092=)
c.3291C>G (p.Gly1097=)
c.2865C>G (p.Gly955=)
1g.169541814G>TCA421930679F5c.3276C>A (p.Gly1092=)
c.3291C>A (p.Gly1097=)
c.2865C>A (p.Gly955=)
1g.169541815C>ACA343118736F5c.3275G>T (p.Gly1092Val)
c.3290G>T (p.Gly1097Val)
c.2864G>T (p.Gly955Val)
 dbSNP gnomAD v4
1g.169541815C=CA1206132462F5c.3275G= (p.Gly1092=)
c.3290G= (p.Gly1097=)
c.2864G= (p.Gly955=)
1g.169541815C>GCA343118737F5c.3275G>C (p.Gly1092Ala)
c.3290G>C (p.Gly1097Ala)
c.2864G>C (p.Gly955Ala)
1g.169541815C>TCA343118739F5c.3275G>A (p.Gly1092Asp)
c.3290G>A (p.Gly1097Asp)
c.2864G>A (p.Gly955Asp)
1g.169541816C>ACA343118744F5c.3274G>T (p.Gly1092Cys)
c.3289G>T (p.Gly1097Cys)
c.2863G>T (p.Gly955Cys)
1g.169541816C>GCA343118742F5c.3274G>C (p.Gly1092Arg)
c.3289G>C (p.Gly1097Arg)
c.2863G>C (p.Gly955Arg)
1g.169541816C>TCA343118741F5c.3274G>A (p.Gly1092Ser)
c.3289G>A (p.Gly1097Ser)
c.2863G>A (p.Gly955Ser)
1g.169541817A=CA1206132463F5c.3273T= (p.Phe1091=)
c.3288T= (p.Phe1096=)
c.2862T= (p.Phe954=)
1g.169541817A>CCA343118746F5c.3273T>G (p.Phe1091Leu)
c.3288T>G (p.Phe1096Leu)
c.2862T>G (p.Phe954Leu)
 dbSNP
1g.169541817A>GCA421930683F5c.3273T>C (p.Phe1091=)
c.3288T>C (p.Phe1096=)
c.2862T>C (p.Phe954=)
 gnomAD v4
1g.169541817A>TCA343118748F5c.3273T>A (p.Phe1091Leu)
c.3288T>A (p.Phe1096Leu)
c.2862T>A (p.Phe954Leu)
1g.169541818A>CCA343118750F5c.3272T>G (p.Phe1091Cys)
c.3287T>G (p.Phe1096Cys)
c.2861T>G (p.Phe954Cys)
1g.169541818A>GCA343118751F5c.3272T>C (p.Phe1091Ser)
c.3287T>C (p.Phe1096Ser)
c.2861T>C (p.Phe954Ser)
1g.169541818A>TCA343118753F5c.3272T>A (p.Phe1091Tyr)
c.3287T>A (p.Phe1096Tyr)
c.2861T>A (p.Phe954Tyr)
1g.169541819A=CA1206132464F5c.3271T= (p.Phe1091=)
c.3286T= (p.Phe1096=)
c.2860T= (p.Phe954=)
1g.169541819A>CCA343118755F5c.3271T>G (p.Phe1091Val)
c.3286T>G (p.Phe1096Val)
c.2860T>G (p.Phe954Val)
1g.169541819A>GCA343118757F5c.3271T>C (p.Phe1091Leu)
c.3286T>C (p.Phe1096Leu)
c.2860T>C (p.Phe954Leu)
1g.169541819A>TCA1233936F5c.3271T>A (p.Phe1091Ile)
c.3286T>A (p.Phe1096Ile)
c.2860T>A (p.Phe954Ile)
 dbSNP ExAC gnomAD v2
1g.169541819_169541820insCCA2746577668F5c.3270_3271insG (p.Phe1091ValfsTer9)
c.3285_3286insG (p.Phe1096ValfsTer9)
c.2859_2860insG (p.Phe954ValfsTer9)
1g.169541819_169541820insCACACCCAACACCA2746577669F5c.3270_3271insGTGTTGGGTGTG (p.Asp1090_Phe1091insValLeuGlyVal)
c.3285_3286insGTGTTGGGTGTG (p.Asp1095_Phe1096insValLeuGlyVal)
c.2859_2860insGTGTTGGGTGTG (p.Asp953_Phe954insValLeuGlyVal)
1g.169541820A>CCA343118761F5c.3270T>G (p.Asp1090Glu)
c.3285T>G (p.Asp1095Glu)
c.2859T>G (p.Asp953Glu)
1g.169541820A>GCA421930687F5c.3270T>C (p.Asp1090=)
c.3285T>C (p.Asp1095=)
c.2859T>C (p.Asp953=)
1g.169541820A>TCA343118759F5c.3270T>A (p.Asp1090Glu)
c.3285T>A (p.Asp1095Glu)
c.2859T>A (p.Asp953Glu)
 gnomAD v4
1g.169541821T>ACA343118763F5c.3269A>T (p.Asp1090Val)
c.3284A>T (p.Asp1095Val)
c.2858A>T (p.Asp953Val)
1g.169541821T>CCA343118764F5c.3269A>G (p.Asp1090Gly)
c.3284A>G (p.Asp1095Gly)
c.2858A>G (p.Asp953Gly)
 ClinVar dbSNP gnomAD v4
1g.169541821T>GCA343118766F5c.3269A>C (p.Asp1090Ala)
c.3284A>C (p.Asp1095Ala)
c.2858A>C (p.Asp953Ala)
1g.169541821T=CA1206132467F5c.3269A= (p.Asp1090=)
c.3284A= (p.Asp1095=)
c.2858A= (p.Asp953=)
1g.169541822C>ACA343118768F5c.3268G>T (p.Asp1090Tyr)
c.3283G>T (p.Asp1095Tyr)
c.2857G>T (p.Asp953Tyr)
1g.169541822C>GCA343118769F5c.3268G>C (p.Asp1090His)
c.3283G>C (p.Asp1095His)
c.2857G>C (p.Asp953His)
1g.169541822C>TCA343118770F5c.3268G>A (p.Asp1090Asn)
c.3283G>A (p.Asp1095Asn)
c.2857G>A (p.Asp953Asn)
 gnomAD v4
1g.169541823C>ACA343118775F5c.3267G>T (p.Met1089Ile)
c.3282G>T (p.Met1094Ile)
c.2856G>T (p.Met952Ile)
1g.169541823C>GCA343118772F5c.3267G>C (p.Met1089Ile)
c.3282G>C (p.Met1094Ile)
c.2856G>C (p.Met952Ile)
1g.169541823C>TCA343118773F5c.3267G>A (p.Met1089Ile)
c.3282G>A (p.Met1094Ile)
c.2856G>A (p.Met952Ile)
 gnomAD v4
1g.169541824A=CA1206132468F5c.3266T= (p.Met1089=)
c.3281T= (p.Met1094=)
c.2855T= (p.Met952=)
1g.169541824A>CCA343118777F5c.3266T>G (p.Met1089Arg)
c.3281T>G (p.Met1094Arg)
c.2855T>G (p.Met952Arg)
1g.169541824A>GCA343118779F5c.3266T>C (p.Met1089Thr)
c.3281T>C (p.Met1094Thr)
c.2855T>C (p.Met952Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.169541824A>TCA343118780F5c.3266T>A (p.Met1089Lys)
c.3281T>A (p.Met1094Lys)
c.2855T>A (p.Met952Lys)
1g.169541825_169541826delCA2649035357F5c.3265_3266del (p.Met1089GlyfsTer10)
c.3280_3281del (p.Met1094GlyfsTer10)
c.2854_2855del (p.Met952GlyfsTer10)
 gnomAD v4
1g.169541825T>ACA343118782F5c.3265A>T (p.Met1089Leu)
c.3280A>T (p.Met1094Leu)
c.2854A>T (p.Met952Leu)
1g.169541825T>CCA1233937F5c.3265A>G (p.Met1089Val)
c.3280A>G (p.Met1094Val)
c.2854A>G (p.Met952Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched