Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.109575996_109576144delinsAGGTAGCACTGGCTGTATCCTTGAACTTGAGAACATTCCTCCGGCTTCAACCCCACAGCAATGGGAAAGTGGACCTCAGCTTACCCAACATTGGTATCAAGCGGGCCTGGGATGTGGCCAGGCTTCAGTCACTGGACACAAGCTTTCTGCA2062460951MVKc.-92+2123_-92+2271delinsAGGTAGCACTGGCTGTATCCTTGAACTTGAGAACATTCCTCCGGCTTCAACCCCACAGCAATGGGAAAGTGGACCTCAGCTTACCCAACATTGGTATCAAGCGGGCCTGGGATGTGGCCAGGCTTCAGTCACTGGACACAAGCTTTCTG (n.-92+2123_-92+2271delinsAGGTAGCACTGGCTGTATCCTTGAACTTGAGAACATTCCTCCGGCTTCAACCCCACAGCAATGGGAAAGTGGACCTCAGCTTACCCAACATTGGTATCAAGCGGGCCTGGGATGTGGCCAGGCTTCAGTCACTGGACACAAGCTTTCTG)
c.79-2_225delinsAGGTAGCACTGGCTGTATCCTTGAACTTGAGAACATTCCTCCGGCTTCAACCCCACAGCAATGGGAAAGTGGACCTCAGCTTACCCAACATTGGTATCAAGCGGGCCTGGGATGTGGCCAGGCTTCAGTCACTGGACACAAGCTTTCTG
n.78+1096_78+1244delinsAGGTAGCACTGGCTGTATCCTTGAACTTGAGAACATTCCTCCGGCTTCAACCCCACAGCAATGGGAAAGTGGACCTCAGCTTACCCAACATTGGTATCAAGCGGGCCTGGGATGTGGCCAGGCTTCAGTCACTGGACACAAGCTTTCTG
c.64+1096_64+1244delinsAGGTAGCACTGGCTGTATCCTTGAACTTGAGAACATTCCTCCGGCTTCAACCCCACAGCAATGGGAAAGTGGACCTCAGCTTACCCAACATTGGTATCAAGCGGGCCTGGGATGTGGCCAGGCTTCAGTCACTGGACACAAGCTTTCTG
c.72-2_218delinsAGGTAGCACTGGCTGTATCCTTGAACTTGAGAACATTCCTCCGGCTTCAACCCCACAGCAATGGGAAAGTGGACCTCAGCTTACCCAACATTGGTATCAAGCGGGCCTGGGATGTGGCCAGGCTTCAGTCACTGGACACAAGCTTTCTG
n.324-2_470delinsAGGTAGCACTGGCTGTATCCTTGAACTTGAGAACATTCCTCCGGCTTCAACCCCACAGCAATGGGAAAGTGGACCTCAGCTTACCCAACATTGGTATCAAGCGGGCCTGGGATGTGGCCAGGCTTCAGTCACTGGACACAAGCTTTCTG
12g.109576000_109576147delCA149905MVKc.-92+2127_-92+2274del (n.-92+2127_-92+2274del)
c.81_226+2del
n.78+1100_78+1247del
c.64+1100_64+1247del
c.74_219+2del
n.326_471+2del
 dbSNP
12g.109576004_109576005delinsCTCA2062460962MVKc.-92+2131_-92+2132delinsCT (n.-92+2131_-92+2132delinsCT)
c.85_86delinsCT (p.Leu29=)
n.78+1104_78+1105delinsCT
c.64+1104_64+1105delinsCT
c.78_79delinsCT
n.330_331delinsCT
12g.109576005delCA149924MVKc.-92+2132del (n.-92+2132del)
c.86del (p.Leu29ArgfsTer5)
n.78+1105del
c.64+1105del
c.79del
n.331del
 ClinVar dbSNP
12g.109576005T>ACA386643240MVKc.-92+2132T>A (n.-92+2132T>A)
c.86T>A (p.Leu29Gln)
n.78+1105T>A
c.64+1105T>A
c.79T>A
n.331T>A
 dbSNP
12g.109576005T>CCA386643243MVKc.-92+2132T>C (n.-92+2132T>C)
c.86T>C (p.Leu29Pro)
n.78+1105T>C
c.64+1105T>C
c.79T>C
n.331T>C
 ClinVar dbSNP
12g.109576005T>GCA386643245MVKc.-92+2132T>G (n.-92+2132T>G)
c.86T>G (p.Leu29Arg)
n.78+1105T>G
c.64+1105T>G
c.79T>G
n.331T>G
12g.109576005T=CA2062460965MVKc.-92+2132T= (n.-92+2132T=)
c.86T= (p.Leu29=)
n.78+1105T=
c.64+1105T=
c.79T=
n.331T=
12g.109576006G>ACA481713167MVKc.-92+2133G>A (n.-92+2133G>A)
c.87G>A (p.Leu29=)
n.78+1106G>A
c.64+1106G>A
c.80G>A
n.332G>A
12g.109576006G>CCA481713168MVKc.-92+2133G>C (n.-92+2133G>C)
c.87G>C (p.Leu29=)
n.78+1106G>C
c.64+1106G>C
c.80G>C
n.332G>C
12g.109576006G>TCA481713169MVKc.-92+2133G>T (n.-92+2133G>T)
c.87G>T (p.Leu29=)
n.78+1106G>T
c.64+1106G>T
c.80G>T
n.332G>T
12g.109576007G>ACA386643253MVKc.-92+2134G>A (n.-92+2134G>A)
c.88G>A (p.Ala30Thr)
n.78+1107G>A
c.64+1107G>A
c.81G>A
n.333G>A
12g.109576007G>CCA386643247MVKc.-92+2134G>C (n.-92+2134G>C)
c.88G>C (p.Ala30Pro)
n.78+1107G>C
c.64+1107G>C
c.81G>C
n.333G>C
12g.109576007G=CA2062460967MVKc.-92+2134G= (n.-92+2134G=)
c.88G= (p.Ala30=)
n.78+1107G=
c.64+1107G=
c.81G=
n.333G=
12g.109576007G>TCA386643249MVKc.-92+2134G>T (n.-92+2134G>T)
c.88G>T (p.Ala30Ser)
n.78+1107G>T
c.64+1107G>T
c.81G>T
n.333G>T
 dbSNP gnomAD v2 gnomAD v4
12g.109576008C>ACA386643259MVKc.-92+2135C>A (n.-92+2135C>A)
c.89C>A (p.Ala30Asp)
n.78+1108C>A
c.64+1108C>A
c.82C>A
n.334C>A
12g.109576008C=CA2062460969MVKc.-92+2135C= (n.-92+2135C=)
c.89C= (p.Ala30=)
n.78+1108C=
c.64+1108C=
c.82C=
n.334C=
12g.109576008C>GCA386643262MVKc.-92+2135C>G (n.-92+2135C>G)
c.89C>G (p.Ala30Gly)
n.78+1108C>G
c.64+1108C>G
c.82C>G
n.334C>G
12g.109576008C>TCA6779153MVKc.-92+2135C>T (n.-92+2135C>T)
c.89C>T (p.Ala30Val)
n.78+1108C>T
c.64+1108C>T
c.82C>T
n.334C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.109576009T>ACA481713172MVKc.-92+2136T>A (n.-92+2136T>A)
c.90T>A (p.Ala30=)
n.78+1109T>A
c.64+1109T>A
c.83T>A
n.335T>A
12g.109576009T>CCA481713170MVKc.-92+2136T>C (n.-92+2136T>C)
c.90T>C (p.Ala30=)
n.78+1109T>C
c.64+1109T>C
c.83T>C
n.335T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.109576009T>GCA481713171MVKc.-92+2136T>G (n.-92+2136T>G)
c.90T>G (p.Ala30=)
n.78+1109T>G
c.64+1109T>G
c.83T>G
n.335T>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.109576009T=CA2062460971MVKc.-92+2136T= (n.-92+2136T=)
c.90T= (p.Ala30=)
n.78+1109T=
c.64+1109T=
c.83T=
n.335T=
12g.109576010G>ACA386643266MVKc.-92+2137G>A (n.-92+2137G>A)
c.91G>A (p.Val31Ile)
n.78+1110G>A
c.64+1110G>A
c.84G>A
n.336G>A
12g.109576010G>CCA386643267MVKc.-92+2137G>C (n.-92+2137G>C)
c.91G>C (p.Val31Leu)
n.78+1110G>C
c.64+1110G>C
c.84G>C
n.336G>C
12g.109576010G>TCA386643269MVKc.-92+2137G>T (n.-92+2137G>T)
c.91G>T (p.Val31Leu)
n.78+1110G>T
c.64+1110G>T
c.84G>T
n.336G>T
12g.109576011T>ACA386643273MVKc.-92+2138T>A (n.-92+2138T>A)
c.92T>A (p.Val31Glu)
n.78+1111T>A
c.64+1111T>A
c.85T>A
n.337T>A
12g.109576011T>CCA386643275MVKc.-92+2138T>C (n.-92+2138T>C)
c.92T>C (p.Val31Ala)
n.78+1111T>C
c.64+1111T>C
c.85T>C
n.337T>C
12g.109576011T>GCA386643276MVKc.-92+2138T>G (n.-92+2138T>G)
c.92T>G (p.Val31Gly)
n.78+1111T>G
c.64+1111T>G
c.85T>G
n.337T>G
12g.109576012A>CCA481713173MVKc.-92+2139A>C (n.-92+2139A>C)
c.93A>C (p.Val31=)
n.78+1112A>C
c.64+1112A>C
c.86A>C
n.338A>C
12g.109576012A>GCA481713174MVKc.-92+2139A>G (n.-92+2139A>G)
c.93A>G (p.Val31=)
n.78+1112A>G
c.64+1112A>G
c.86A>G
n.338A>G
12g.109576012A>TCA481713175MVKc.-92+2139A>T (n.-92+2139A>T)
c.93A>T (p.Val31=)
n.78+1112A>T
c.64+1112A>T
c.86A>T
n.338A>T
12g.109576013T>ACA386643281MVKc.-92+2140T>A (n.-92+2140T>A)
c.94T>A (p.Ser32Thr)
n.78+1113T>A
c.64+1113T>A
c.87T>A
n.339T>A
12g.109576013T>CCA386643284MVKc.-92+2140T>C (n.-92+2140T>C)
c.94T>C (p.Ser32Pro)
n.78+1113T>C
c.64+1113T>C
c.87T>C
n.339T>C
12g.109576013T>GCA386643286MVKc.-92+2140T>G (n.-92+2140T>G)
c.94T>G (p.Ser32Ala)
n.78+1113T>G
c.64+1113T>G
c.87T>G
n.339T>G
12g.109576014C>ACA386643291MVKc.-92+2141C>A (n.-92+2141C>A)
c.95C>A (p.Ser32Tyr)
n.78+1114C>A
c.64+1114C>A
c.88C>A
n.340C>A
12g.109576014C>GCA386643293MVKc.-92+2141C>G (n.-92+2141C>G)
c.95C>G (p.Ser32Cys)
n.78+1114C>G
c.64+1114C>G
c.88C>G
n.340C>G
 gnomAD v4
12g.109576014C>TCA386643289MVKc.-92+2141C>T (n.-92+2141C>T)
c.95C>T (p.Ser32Phe)
n.78+1114C>T
c.64+1114C>T
c.88C>T
n.340C>T
12g.109576015C>ACA481713176MVKc.-92+2142C>A (n.-92+2142C>A)
c.96C>A (p.Ser32=)
n.78+1115C>A
c.64+1115C>A
c.89C>A
n.341C>A
12g.109576015C>GCA481713178MVKc.-92+2142C>G (n.-92+2142C>G)
c.96C>G (p.Ser32=)
n.78+1115C>G
c.64+1115C>G
c.89C>G
n.341C>G
12g.109576015C>TCA481713177MVKc.-92+2142C>T (n.-92+2142C>T)
c.96C>T (p.Ser32=)
n.78+1115C>T
c.64+1115C>T
c.89C>T
n.341C>T
 ClinVar gnomAD v4
12g.109576016T>ACA386643296MVKc.-92+2143T>A (n.-92+2143T>A)
c.97T>A (p.Leu33Met)
n.78+1116T>A
c.64+1116T>A
c.90T>A
n.342T>A
12g.109576016T>CCA481713179MVKc.-92+2143T>C (n.-92+2143T>C)
c.97T>C (p.Leu33=)
n.78+1116T>C
c.64+1116T>C
c.90T>C
n.342T>C
12g.109576016T>GCA386643294MVKc.-92+2143T>G (n.-92+2143T>G)
c.97T>G (p.Leu33Val)
n.78+1116T>G
c.64+1116T>G
c.90T>G
n.342T>G
12g.109576017T>ACA386643299MVKc.-92+2144T>A (n.-92+2144T>A)
c.98T>A (p.Leu33Ter)
n.78+1117T>A
c.64+1117T>A
c.91T>A
n.343T>A
12g.109576017T>CCA386643301MVKc.-92+2144T>C (n.-92+2144T>C)
c.98T>C (p.Leu33Ser)
n.78+1117T>C
c.64+1117T>C
c.91T>C
n.343T>C
12g.109576017T>GCA386643304MVKc.-92+2144T>G (n.-92+2144T>G)
c.98T>G (p.Leu33Trp)
n.78+1117T>G
c.64+1117T>G
c.91T>G
n.343T>G
12g.109576018G>ACA481713180MVKc.-92+2145G>A (n.-92+2145G>A)
c.99G>A (p.Leu33=)
n.78+1118G>A
c.64+1118G>A
c.92G>A
n.344G>A
12g.109576018G>CCA386643307MVKc.-92+2145G>C (n.-92+2145G>C)
c.99G>C (p.Leu33Phe)
n.78+1118G>C
c.64+1118G>C
c.92G>C
n.344G>C
12g.109576018G>TCA386643310MVKc.-92+2145G>T (n.-92+2145G>T)
c.99G>T (p.Leu33Phe)
n.78+1118G>T
c.64+1118G>T
c.92G>T
n.344G>T

Number of alleles fetched