Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.43918033delCA1638194LRPPRCn.699del
c.303+230del (n.303+230del)
c.*2933del (n.*2933del)
c.3147del (p.Ala1051HisfsTer6)
c.3165del (p.Ala1057HisfsTer6)
c.3144del (p.Ala1050HisfsTer6)
n.3731del
c.1565del
c.3138del (p.Ala1048HisfsTer6)
n.2249del
c.3102del (p.Ala1036HisfsTer6)
n.3221del
n.766del
c.3255del (p.Ala1087HisfsTer6)
c.3150del (p.Ala1052HisfsTer6)
c.3177del (p.Ala1061HisfsTer6)
n.3950del
c.*3022del (n.*3022del)
n.1754del
n.3734del
c.2897-5468del (n.2897-5468del)
c.3054del (p.Ala1020HisfsTer6)
n.3698del
c.*3019del (n.*3019del)
n.6072del
c.*683del (n.*683del)
c.*3060del (n.*3060del)
n.3167del
c.*2785del (n.*2785del)
n.268del
n.4178del
c.3069del (p.Ala1025HisfsTer6)
c.3147del (p.Arg1050GlyfsTer?)
n.3189del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.43918033dupCA211163LRPPRCn.699dup
c.303+230dup (n.303+230dup)
c.*2933dup (n.*2933dup)
c.3147dup (p.Gly1050ArgfsTer4)
c.3165dup (p.Gly1056ArgfsTer4)
c.3144dup (p.Gly1049ArgfsTer4)
n.3731dup
c.1565dup
c.3138dup (p.Gly1047ArgfsTer4)
n.2249dup
c.3102dup (p.Gly1035ArgfsTer4)
n.3221dup
n.766dup
c.3255dup (p.Gly1086ArgfsTer4)
c.3150dup (p.Gly1051ArgfsTer4)
c.3177dup (p.Gly1060ArgfsTer4)
n.3950dup
c.*3022dup (n.*3022dup)
n.1754dup
n.3734dup
c.2897-5468dup (n.2897-5468dup)
c.3054dup (p.Gly1019ArgfsTer4)
n.3698dup
c.*3019dup (n.*3019dup)
n.6072dup
c.*683dup (n.*683dup)
c.*3060dup (n.*3060dup)
n.3167dup
c.*2785dup (n.*2785dup)
n.268dup
n.4178dup
c.3069dup (p.Gly1024ArgfsTer4)
c.3147dup (p.Arg1050LysfsTer8)
n.3189dup
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.43918033_43918034insTTTTTTTTTCA532278417LRPPRCn.699_700insAAAAAAAAA
c.303+230_303+231insAAAAAAAAA (n.303+230_303+231insAAAAAAAAA)
c.*2933_*2934insAAAAAAAAA (n.*2933_*2934insAAAAAAAAA)
c.3147_3148insAAAAAAAAA (p.Lys1049_Gly1050insLysLysLys)
c.3165_3166insAAAAAAAAA (p.Lys1055_Gly1056insLysLysLys)
c.3144_3145insAAAAAAAAA (p.Lys1048_Gly1049insLysLysLys)
n.3731_3732insAAAAAAAAA
c.1565_1566insAAAAAAAAA
c.3138_3139insAAAAAAAAA (p.Lys1046_Gly1047insLysLysLys)
n.2249_2250insAAAAAAAAA
c.3102_3103insAAAAAAAAA (p.Lys1034_Gly1035insLysLysLys)
n.3221_3222insAAAAAAAAA
n.766_767insAAAAAAAAA
c.3255_3256insAAAAAAAAA (p.Lys1085_Gly1086insLysLysLys)
c.3150_3151insAAAAAAAAA (p.Lys1050_Gly1051insLysLysLys)
c.3177_3178insAAAAAAAAA (p.Lys1059_Gly1060insLysLysLys)
n.3950_3951insAAAAAAAAA
c.*3022_*3023insAAAAAAAAA (n.*3022_*3023insAAAAAAAAA)
n.1754_1755insAAAAAAAAA
n.3734_3735insAAAAAAAAA
c.2897-5468_2897-5467insAAAAAAAAA (n.2897-5468_2897-5467insAAAAAAAAA)
c.3054_3055insAAAAAAAAA (p.Lys1018_Gly1019insLysLysLys)
n.3698_3699insAAAAAAAAA
c.*3019_*3020insAAAAAAAAA (n.*3019_*3020insAAAAAAAAA)
n.6072_6073insAAAAAAAAA
c.*683_*684insAAAAAAAAA (n.*683_*684insAAAAAAAAA)
c.*3060_*3061insAAAAAAAAA (n.*3060_*3061insAAAAAAAAA)
n.3167_3168insAAAAAAAAA
c.*2785_*2786insAAAAAAAAA (n.*2785_*2786insAAAAAAAAA)
n.268_269insAAAAAAAAA
n.4178_4179insAAAAAAAAA
c.3069_3070insAAAAAAAAA (p.Lys1023_Gly1024insLysLysLys)
c.3147_3147+1insAAAAAAAAA (p.Lys1049_Arg1050insLysLysLys)
n.3189_3190insAAAAAAAAA
 dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched