Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.219418499_219419548delCA1139655693DESc.37_578+508del
c.37_495+591del
 ClinVar
2g.219418950_219418967dupCA916081390DESc.488_505dup (p.Val168_Leu169insArgArgGlnValGluVal)
c.488_495+10dup
 ClinVar dbSNP
2g.219418954_219418982delinsCCAGGTGGAGGTGCTCACTAACCAGCGCGCA1329210109DESc.492_520delinsCCAGGTGGAGGTGCTCACTAACCAGCGCG (p.Arg164=)
c.492_495+25delinsCCAGGTGGAGGTGCTCACTAACCAGCGCG
2g.219418955C>ACA350686632DESc.493C>A (p.Gln165Lys)
2g.219418955C>GCA350686644DESc.493C>G (p.Gln165Glu)
2g.219418955C>TCA350686641DESc.493C>T (p.Gln165Ter)
 gnomAD v4
2g.219418955_219418982delinsGCGTCA645369281DESc.493_520delinsGCGT (p.Gln165_Ala174delinsAlaSer)
c.493_495+25delinsGCGT
 ClinVar dbSNP
2g.219418956A=CA1329210110DESc.494A= (p.Gln165=)
2g.219418956A>CCA350686646DESc.494A>C (p.Gln165Pro)
2g.219418956A>GCA350686649DESc.494A>G (p.Gln165Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.219418956A>TCA350686652DESc.494A>T (p.Gln165Leu)
2g.219418957G>ACA431427897DESc.495G>A (p.Gln165=)
 gnomAD v4
2g.219418957G>CCA350686655DESc.495G>C (p.Gln165His)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.219418957G=CA1329210111DESc.495G= (p.Gln165=)
2g.219418957G>TCA350686657DESc.495G>T (p.Gln165His)
 gnomAD v4
2g.219418958G>ACA350686662DESc.496G>A (p.Val166Met)
c.495+1G>A (n.495+1G>A)
2g.219418958G>CCA350686664DESc.496G>C (p.Val166Leu)
c.495+1G>C (n.495+1G>C)
2g.219418958G>TCA350686669DESc.496G>T (p.Val166Leu)
c.495+1G>T (n.495+1G>T)
 gnomAD v4
2g.219418959T>ACA350686672DESc.497T>A (p.Val166Glu)
c.495+2T>A (n.495+2T>A)
2g.219418959T>CCA350686675DESc.497T>C (p.Val166Ala)
c.495+2T>C (n.495+2T>C)
2g.219418959T>GCA350686679DESc.497T>G (p.Val166Gly)
c.495+2T>G (n.495+2T>G)
 gnomAD v4
2g.219418960G>ACA431427901DESc.498G>A (p.Val166=)
c.495+3G>A (n.495+3G>A)
2g.219418960G>CCA431427902DESc.498G>C (p.Val166=)
c.495+3G>C (n.495+3G>C)
2g.219418960G>TCA431427903DESc.498G>T (p.Val166=)
c.495+3G>T (n.495+3G>T)
2g.219418961G>ACA350686688DESc.499G>A (p.Glu167Lys)
c.495+4G>A (n.495+4G>A)
 gnomAD v4
2g.219418961G>CCA350686685DESc.499G>C (p.Glu167Gln)
c.495+4G>C (n.495+4G>C)
 dbSNP gnomAD v4
2g.219418961G=CA1329210112DESc.499G= (p.Glu167=)
c.495+4G= (n.495+4G=)
2g.219418961G>TCA350686682DESc.499G>T (p.Glu167Ter)
c.495+4G>T (n.495+4G>T)
2g.219418962A=CA1329210113DESc.500A= (p.Glu167=)
c.495+5A= (n.495+5A=)
2g.219418962A>CCA350686691DESc.500A>C (p.Glu167Ala)
c.495+5A>C (n.495+5A>C)
2g.219418962A>GCA350686692DESc.500A>G (p.Glu167Gly)
c.495+5A>G (n.495+5A>G)
 ClinVar dbSNP gnomAD v4
2g.219418962A>TCA350686694DESc.500A>T (p.Glu167Val)
c.495+5A>T (n.495+5A>T)
 ClinVar dbSNP gnomAD v4
2g.219418963G>ACA431427907DESc.501G>A (p.Glu167=)
c.495+6G>A (n.495+6G>A)
2g.219418963G>CCA350686698DESc.501G>C (p.Glu167Asp)
c.495+6G>C (n.495+6G>C)
2g.219418963G=CA1329210114DESc.501G= (p.Glu167=)
c.495+6G= (n.495+6G=)
2g.219418963G>TCA350686701DESc.501G>T (p.Glu167Asp)
c.495+6G>T (n.495+6G>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.219418964G>ACA350686705DESc.502G>A (p.Val168Met)
c.495+7G>A (n.495+7G>A)
 dbSNP gnomAD v3 gnomAD v4
2g.219418964G>CCA350686708DESc.502G>C (p.Val168Leu)
c.495+7G>C (n.495+7G>C)
2g.219418964G=CA1329210115DESc.502G= (p.Val168=)
c.495+7G= (n.495+7G=)
2g.219418964G>TCA350686710DESc.502G>T (p.Val168Leu)
c.495+7G>T (n.495+7G>T)
2g.219418965T>ACA350686715DESc.503T>A (p.Val168Glu)
c.495+8T>A (n.495+8T>A)
2g.219418965T>CCA350686718DESc.503T>C (p.Val168Ala)
c.495+8T>C (n.495+8T>C)
2g.219418965T>GCA350686719DESc.503T>G (p.Val168Gly)
c.495+8T>G (n.495+8T>G)
2g.219418966G>ACA431427909DESc.504G>A (p.Val168=)
c.495+9G>A (n.495+9G>A)
 gnomAD v4
2g.219418966G>CCA431427910DESc.504G>C (p.Val168=)
c.495+9G>C (n.495+9G>C)
 dbSNP
2g.219418966G=CA1329210116DESc.504G= (p.Val168=)
c.495+9G= (n.495+9G=)
2g.219418966G>TCA431427911DESc.504G>T (p.Val168=)
c.495+9G>T (n.495+9G>T)
2g.219418967C>ACA350686727DESc.505C>A (p.Leu169Ile)
c.495+10C>A (n.495+10C>A)
 gnomAD v4
2g.219418967C=CA1329210117DESc.505C= (p.Leu169=)
c.495+10C= (n.495+10C=)
2g.219418967C>GCA350686726DESc.505C>G (p.Leu169Val)
c.495+10C>G (n.495+10C>G)

Number of alleles fetched