Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.54625598_54625603delinsTAACTCCA1785187966RP1c.1716_1721delinsTAACTC (p.Asn572=)
c.787+3310_787+3315delinsTAACTC (n.787+3310_787+3315delinsTAACTC)
c.1737_1742delinsTAACTC (p.Asn579=)
8g.54625601_54625605delCA236463RP1c.1719_1723del (p.Ser574CysfsTer7)
c.787+3313_787+3317del (n.787+3313_787+3317del)
c.1740_1744del (p.Ser581CysfsTer7)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54625601C>ACA370991361RP1c.1719C>A (p.Asn573Lys)
c.787+3313C>A (n.787+3313C>A)
c.1740C>A (p.Asn580Lys)
8g.54625601C=CA1785187967RP1c.1719C= (p.Asn573=)
c.787+3313C= (n.787+3313C=)
c.1740C= (p.Asn580=)
8g.54625601C>GCA370991363RP1c.1719C>G (p.Asn573Lys)
c.787+3313C>G (n.787+3313C>G)
c.1740C>G (p.Asn580Lys)
8g.54625601C>TCA461098380RP1c.1719C>T (p.Asn573=)
c.787+3313C>T (n.787+3313C>T)
c.1740C>T (p.Asn580=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.54625602_54625603delCA461098381RP1c.1720_1721del (p.Ser574AsnfsTer8)
c.787+3314_787+3315del (n.787+3314_787+3315del)
c.1741_1742del (p.Ser581AsnfsTer8)
 ClinVar dbSNP
8g.54625602T>ACA370991365RP1c.1720T>A (p.Ser574Thr)
c.787+3314T>A (n.787+3314T>A)
c.1741T>A (p.Ser581Thr)
8g.54625602T>CCA370991366RP1c.1720T>C (p.Ser574Pro)
c.787+3314T>C (n.787+3314T>C)
c.1741T>C (p.Ser581Pro)
8g.54625602T>GCA370991368RP1c.1720T>G (p.Ser574Ala)
c.787+3314T>G (n.787+3314T>G)
c.1741T>G (p.Ser581Ala)
8g.54625603C>ACA370991370RP1c.1721C>A (p.Ser574Ter)
c.787+3315C>A (n.787+3315C>A)
c.1742C>A (p.Ser581Ter)
8g.54625603C=CA1785187968RP1c.1721C= (p.Ser574=)
c.787+3315C= (n.787+3315C=)
c.1742C= (p.Ser581=)
8g.54625603C>GCA370991372RP1c.1721C>G (p.Ser574Ter)
c.787+3315C>G (n.787+3315C>G)
c.1742C>G (p.Ser581Ter)
 ClinVar dbSNP
8g.54625603C>TCA370991373RP1c.1721C>T (p.Ser574Leu)
c.787+3315C>T (n.787+3315C>T)
c.1742C>T (p.Ser581Leu)
 dbSNP
8g.54625604A>CCA461098384RP1c.1722A>C (p.Ser574=)
c.787+3316A>C (n.787+3316A>C)
c.1743A>C (p.Ser581=)
8g.54625604A>GCA461098383RP1c.1722A>G (p.Ser574=)
c.787+3316A>G (n.787+3316A>G)
c.1743A>G (p.Ser581=)
8g.54625604A>TCA461098385RP1c.1722A>T (p.Ser574=)
c.787+3316A>T (n.787+3316A>T)
c.1743A>T (p.Ser581=)
8g.54625605A>CCA370991374RP1c.1723A>C (p.Ile575Leu)
c.787+3317A>C (n.787+3317A>C)
c.1744A>C (p.Ile582Leu)
8g.54625605A>GCA370991376RP1c.1723A>G (p.Ile575Val)
c.787+3317A>G (n.787+3317A>G)
c.1744A>G (p.Ile582Val)
 gnomAD v4
8g.54625605A>TCA370991378RP1c.1723A>T (p.Ile575Phe)
c.787+3317A>T (n.787+3317A>T)
c.1744A>T (p.Ile582Phe)
8g.54625606T>ACA370991381RP1c.1724T>A (p.Ile575Asn)
c.787+3318T>A (n.787+3318T>A)
c.1745T>A (p.Ile582Asn)
8g.54625606T>CCA4751423RP1c.1724T>C (p.Ile575Thr)
c.787+3318T>C (n.787+3318T>C)
c.1745T>C (p.Ile582Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.54625606T>GCA370991379RP1c.1724T>G (p.Ile575Ser)
c.787+3318T>G (n.787+3318T>G)
c.1745T>G (p.Ile582Ser)
8g.54625606T=CA1785187969RP1c.1724T= (p.Ile575=)
c.787+3318T= (n.787+3318T=)
c.1745T= (p.Ile582=)
8g.54625607T>ACA461098386RP1c.1725T>A (p.Ile575=)
c.787+3319T>A (n.787+3319T>A)
c.1746T>A (p.Ile582=)
8g.54625607T>CCA461098387RP1c.1725T>C (p.Ile575=)
c.787+3319T>C (n.787+3319T>C)
c.1746T>C (p.Ile582=)
8g.54625607T>GCA370991383RP1c.1725T>G (p.Ile575Met)
c.787+3319T>G (n.787+3319T>G)
c.1746T>G (p.Ile582Met)
8g.54625608G>ACA4751424RP1c.1726G>A (p.Val576Met)
c.787+3320G>A (n.787+3320G>A)
c.1747G>A (p.Val583Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54625608G>CCA370991385RP1c.1726G>C (p.Val576Leu)
c.787+3320G>C (n.787+3320G>C)
c.1747G>C (p.Val583Leu)
8g.54625608G=CA1785187970RP1c.1726G= (p.Val576=)
c.787+3320G= (n.787+3320G=)
c.1747G= (p.Val583=)
8g.54625608G>TCA370991387RP1c.1726G>T (p.Val576Leu)
c.787+3320G>T (n.787+3320G>T)
c.1747G>T (p.Val583Leu)
 dbSNP gnomAD v4
8g.54625609T>ACA370991389RP1c.1727T>A (p.Val576Glu)
c.787+3321T>A (n.787+3321T>A)
c.1748T>A (p.Val583Glu)
8g.54625609T>CCA370991391RP1c.1727T>C (p.Val576Ala)
c.787+3321T>C (n.787+3321T>C)
c.1748T>C (p.Val583Ala)
8g.54625609T>GCA370991392RP1c.1727T>G (p.Val576Gly)
c.787+3321T>G (n.787+3321T>G)
c.1748T>G (p.Val583Gly)
8g.54625610G>ACA461098389RP1c.1728G>A (p.Val576=)
c.787+3322G>A (n.787+3322G>A)
c.1749G>A (p.Val583=)
8g.54625610G>CCA461098390RP1c.1728G>C (p.Val576=)
c.787+3322G>C (n.787+3322G>C)
c.1749G>C (p.Val583=)
8g.54625610G>TCA461098392RP1c.1728G>T (p.Val576=)
c.787+3322G>T (n.787+3322G>T)
c.1749G>T (p.Val583=)
8g.54625611G>ACA370991393RP1c.1729G>A (p.Glu577Lys)
c.787+3323G>A (n.787+3323G>A)
c.1750G>A (p.Glu584Lys)
 COSMIC
8g.54625611G>CCA370991395RP1c.1729G>C (p.Glu577Gln)
c.787+3323G>C (n.787+3323G>C)
c.1750G>C (p.Glu584Gln)
8g.54625611G>TCA370991397RP1c.1729G>T (p.Glu577Ter)
c.787+3323G>T (n.787+3323G>T)
c.1750G>T (p.Glu584Ter)
8g.54625612A>CCA370991399RP1c.1730A>C (p.Glu577Ala)
c.787+3324A>C (n.787+3324A>C)
c.1751A>C (p.Glu584Ala)
8g.54625612A>GCA370991400RP1c.1730A>G (p.Glu577Gly)
c.787+3324A>G (n.787+3324A>G)
c.1751A>G (p.Glu584Gly)
 gnomAD v4
8g.54625612A>TCA370991402RP1c.1730A>T (p.Glu577Val)
c.787+3324A>T (n.787+3324A>T)
c.1751A>T (p.Glu584Val)
8g.54625613G>ACA461098393RP1c.1731G>A (p.Glu577=)
c.787+3325G>A (n.787+3325G>A)
c.1752G>A (p.Glu584=)
8g.54625613G>CCA370991406RP1c.1731G>C (p.Glu577Asp)
c.787+3325G>C (n.787+3325G>C)
c.1752G>C (p.Glu584Asp)
8g.54625613G>TCA370991404RP1c.1731G>T (p.Glu577Asp)
c.787+3325G>T (n.787+3325G>T)
c.1752G>T (p.Glu584Asp)
8g.54625613_54625618delinsGGAAGACA1785187971RP1c.1731_1736delinsGGAAGA (p.Glu577=)
c.787+3325_787+3330delinsGGAAGA (n.787+3325_787+3330delinsGGAAGA)
c.1752_1757delinsGGAAGA (p.Glu584=)
8g.54625614G>ACA370991408RP1c.1732G>A (p.Glu578Lys)
c.787+3326G>A (n.787+3326G>A)
c.1753G>A (p.Glu585Lys)
 COSMIC
8g.54625614G>CCA370991410RP1c.1732G>C (p.Glu578Gln)
c.787+3326G>C (n.787+3326G>C)
c.1753G>C (p.Glu585Gln)
8g.54625614G>TCA370991411RP1c.1732G>T (p.Glu578Ter)
c.787+3326G>T (n.787+3326G>T)
c.1753G>T (p.Glu585Ter)
 ClinVar dbSNP

Number of alleles fetched