Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.54626167_54626171delCA358684RP1c.2285_2289del (p.Leu762TyrfsTer17)
c.787+3879_787+3883del (n.787+3879_787+3883del)
c.2306_2310del (p.Leu769TyrfsTer17)
 ClinVar dbSNP gnomAD v4
8g.54626166_54626170delinsTTAAACA1785188189RP1c.2284_2288delinsTTAAA (p.Leu762=)
c.787+3878_787+3882delinsTTAAA (n.787+3878_787+3882delinsTTAAA)
c.2305_2309delinsTTAAA (p.Leu769=)
8g.54626166_54626171delCA2695209277RP1c.2284_2289del (p.Leu762_Asn763del)
c.787+3878_787+3883del (n.787+3878_787+3883del)
c.2305_2310del (p.Leu769_Asn770del)
8g.54626169_54626172delCA358685RP1c.2287_2290del (p.Asn763LeufsTer11)
c.787+3881_787+3884del (n.787+3881_787+3884del)
c.2308_2311del (p.Asn770LeufsTer11)
 ClinVar dbSNP
8g.54626170delCA2695209278RP1c.2288del (p.Asn763IlefsTer12)
c.787+3882del (n.787+3882del)
c.2309del (p.Asn770IlefsTer12)
8g.54626171_54626181delCA2695209279RP1c.2289_2299del (p.Asn763LysfsTer14)
c.787+3883_787+3893del (n.787+3883_787+3893del)
c.2310_2320del (p.Asn770LysfsTer14)
8g.54626169A>CCA370993325RP1c.2287A>C (p.Asn763His)
c.787+3881A>C (n.787+3881A>C)
c.2308A>C (p.Asn770His)
8g.54626169A>GCA370993326RP1c.2287A>G (p.Asn763Asp)
c.787+3881A>G (n.787+3881A>G)
c.2308A>G (p.Asn770Asp)
8g.54626169A>TCA370993328RP1c.2287A>T (p.Asn763Tyr)
c.787+3881A>T (n.787+3881A>T)
c.2308A>T (p.Asn770Tyr)
8g.54626170A=CA1785188190RP1c.2288A= (p.Asn763=)
c.787+3882A= (n.787+3882A=)
c.2309A= (p.Asn770=)
8g.54626170A>CCA370993333RP1c.2288A>C (p.Asn763Thr)
c.787+3882A>C (n.787+3882A>C)
c.2309A>C (p.Asn770Thr)
 dbSNP gnomAD v4
8g.54626170A>GCA370993331RP1c.2288A>G (p.Asn763Ser)
c.787+3882A>G (n.787+3882A>G)
c.2309A>G (p.Asn770Ser)
 dbSNP gnomAD v2 gnomAD v4
8g.54626170A>TCA370993330RP1c.2288A>T (p.Asn763Ile)
c.787+3882A>T (n.787+3882A>T)
c.2309A>T (p.Asn770Ile)
8g.54626171T>ACA370993335RP1c.2289T>A (p.Asn763Lys)
c.787+3883T>A (n.787+3883T>A)
c.2310T>A (p.Asn770Lys)
8g.54626171T>CCA461098874RP1c.2289T>C (p.Asn763=)
c.787+3883T>C (n.787+3883T>C)
c.2310T>C (p.Asn770=)
8g.54626171T>GCA370993337RP1c.2289T>G (p.Asn763Lys)
c.787+3883T>G (n.787+3883T>G)
c.2310T>G (p.Asn770Lys)
8g.54626172A=CA1785188191RP1c.2290A= (p.Thr764=)
c.787+3884A= (n.787+3884A=)
c.2311A= (p.Thr771=)
8g.54626172A>CCA370993338RP1c.2290A>C (p.Thr764Pro)
c.787+3884A>C (n.787+3884A>C)
c.2311A>C (p.Thr771Pro)
8g.54626172A>GCA4751502RP1c.2290A>G (p.Thr764Ala)
c.787+3884A>G (n.787+3884A>G)
c.2311A>G (p.Thr771Ala)
 dbSNP ExAC gnomAD v3 gnomAD v4
8g.54626172A>TCA370993341RP1c.2290A>T (p.Thr764Ser)
c.787+3884A>T (n.787+3884A>T)
c.2311A>T (p.Thr771Ser)
 gnomAD v4
8g.54626172dupCA2739290087RP1c.2290dup (p.Thr764AsnfsTer17)
c.787+3884dup (n.787+3884dup)
c.2311dup (p.Thr771AsnfsTer17)
8g.54626173C>ACA370993342RP1c.2291C>A (p.Thr764Asn)
c.787+3885C>A (n.787+3885C>A)
c.2312C>A (p.Thr771Asn)
8g.54626173C>GCA370993343RP1c.2291C>G (p.Thr764Ser)
c.787+3885C>G (n.787+3885C>G)
c.2312C>G (p.Thr771Ser)
8g.54626173C>TCA370993345RP1c.2291C>T (p.Thr764Ile)
c.787+3885C>T (n.787+3885C>T)
c.2312C>T (p.Thr771Ile)
8g.54626173_54626174insACCCCA2780387013RP1c.2291_2292insACCC (p.Thr765ProfsTer17)
c.787+3885_787+3886insACCC (n.787+3885_787+3886insACCC)
c.2312_2313insACCC (p.Thr772ProfsTer17)
8g.54626174T>ACA461098875RP1c.2292T>A (p.Thr764=)
c.787+3886T>A (n.787+3886T>A)
c.2313T>A (p.Thr771=)
8g.54626174T>CCA4751503RP1c.2292T>C (p.Thr764=)
c.787+3886T>C (n.787+3886T>C)
c.2313T>C (p.Thr771=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54626174T>GCA461098876RP1c.2292T>G (p.Thr764=)
c.787+3886T>G (n.787+3886T>G)
c.2313T>G (p.Thr771=)
8g.54626174T=CA1785188192RP1c.2292T= (p.Thr764=)
c.787+3886T= (n.787+3886T=)
c.2313T= (p.Thr771=)
8g.54626175A=CA1785188193RP1c.2293A= (p.Thr765=)
c.787+3887A= (n.787+3887A=)
c.2314A= (p.Thr772=)
8g.54626175A>CCA370993351RP1c.2293A>C (p.Thr765Pro)
c.787+3887A>C (n.787+3887A>C)
c.2314A>C (p.Thr772Pro)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.54626175A>GCA370993352RP1c.2293A>G (p.Thr765Ala)
c.787+3887A>G (n.787+3887A>G)
c.2314A>G (p.Thr772Ala)
8g.54626175A>TCA370993349RP1c.2293A>T (p.Thr765Ser)
c.787+3887A>T (n.787+3887A>T)
c.2314A>T (p.Thr772Ser)
8g.54626176C>ACA370993354RP1c.2294C>A (p.Thr765Asn)
c.787+3888C>A (n.787+3888C>A)
c.2315C>A (p.Thr772Asn)
8g.54626176C=CA1785188194RP1c.2294C= (p.Thr765=)
c.787+3888C= (n.787+3888C=)
c.2315C= (p.Thr772=)
8g.54626176C>GCA370993353RP1c.2294C>G (p.Thr765Ser)
c.787+3888C>G (n.787+3888C>G)
c.2315C>G (p.Thr772Ser)
8g.54626176C>TCA370993355RP1c.2294C>T (p.Thr765Ile)
c.787+3888C>T (n.787+3888C>T)
c.2315C>T (p.Thr772Ile)
 dbSNP gnomAD v4 COSMIC
8g.54626177T>ACA461098877RP1c.2295T>A (p.Thr765=)
c.787+3889T>A (n.787+3889T>A)
c.2316T>A (p.Thr772=)
8g.54626177T>CCA461098878RP1c.2295T>C (p.Thr765=)
c.787+3889T>C (n.787+3889T>C)
c.2316T>C (p.Thr772=)
8g.54626177T>GCA461098879RP1c.2295T>G (p.Thr765=)
c.787+3889T>G (n.787+3889T>G)
c.2316T>G (p.Thr772=)
8g.54626178C>ACA4751504RP1c.2296C>A (p.Gln766Lys)
c.787+3890C>A (n.787+3890C>A)
c.2317C>A (p.Gln773Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54626178C=CA1785188195RP1c.2296C= (p.Gln766=)
c.787+3890C= (n.787+3890C=)
c.2317C= (p.Gln773=)
8g.54626178C>GCA370993357RP1c.2296C>G (p.Gln766Glu)
c.787+3890C>G (n.787+3890C>G)
c.2317C>G (p.Gln773Glu)
 dbSNP gnomAD v2 gnomAD v4
8g.54626178C>TCA370993358RP1c.2296C>T (p.Gln766Ter)
c.787+3890C>T (n.787+3890C>T)
c.2317C>T (p.Gln773Ter)
 ClinVar dbSNP gnomAD v4
8g.54626179A>CCA370993359RP1c.2297A>C (p.Gln766Pro)
c.787+3891A>C (n.787+3891A>C)
c.2318A>C (p.Gln773Pro)
8g.54626179A>GCA370993360RP1c.2297A>G (p.Gln766Arg)
c.787+3891A>G (n.787+3891A>G)
c.2318A>G (p.Gln773Arg)
 dbSNP
8g.54626179A>TCA370993361RP1c.2297A>T (p.Gln766Leu)
c.787+3891A>T (n.787+3891A>T)
c.2318A>T (p.Gln773Leu)
8g.54626180A>CCA370993362RP1c.2298A>C (p.Gln766His)
c.787+3892A>C (n.787+3892A>C)
c.2319A>C (p.Gln773His)
8g.54626180A>GCA461098880RP1c.2298A>G (p.Gln766=)
c.787+3892A>G (n.787+3892A>G)
c.2319A>G (p.Gln773=)
8g.54626180A>TCA370993363RP1c.2298A>T (p.Gln766His)
c.787+3892A>T (n.787+3892A>T)
c.2319A>T (p.Gln773His)

Number of alleles fetched