Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.127814982_127820052delCA1139659920 ClinVar
9g.127815883_127815914delinsGGCTCCCCCGGGTGGATGGAGGGGCCCGGCATCA1879981634ENGc.1306+29_1306+60delinsATGCCGGGCCCCTCCATCCACCCGGGGGAGCC (n.1306+29_1306+60delinsATGCCGGGCCCCTCCATCCACCCGGGGGAGCC)
c.1852+29_1852+60delinsATGCCGGGCCCCTCCATCCACCCGGGGGAGCC (n.1852+29_1852+60delinsATGCCGGGCCCCTCCATCCACCCGGGGGAGCC)
c.*3_*34delinsATGCCGGGCCCCTCCATCCACCCGGGGGAGCC (n.*3_*34delinsATGCCGGGCCCCTCCATCCACCCGGGGGAGCC)
9g.127815888_127815918delCA590939369ENGc.1306+29_1306+59del (n.1306+29_1306+59del)
c.1852+29_1852+59del (n.1852+29_1852+59del)
c.*3_*33del (n.*3_*33del)
 dbSNP gnomAD v2 gnomAD v4
9g.127815909C>ACA200301440ENGc.1306+34G>T (n.1306+34G>T)
c.1852+34G>T (n.1852+34G>T)
c.*8G>T (n.*8G>T)
 dbSNP gnomAD v2 gnomAD v4
9g.127815909C=CA1879981703ENGc.1306+34G= (n.1306+34G=)
c.1852+34G= (n.1852+34G=)
c.*8G= (n.*8G=)
9g.127815909C>TCA5252615ENGc.1306+34G>A (n.1306+34G>A)
c.1852+34G>A (n.1852+34G>A)
c.*8G>A (n.*8G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127815909_127815931delinsCGGCATGCTCACTGTGGGGGCCTCA1879981705ENGc.1306+12_1306+34delinsAGGCCCCCACAGTGAGCATGCCG (n.1306+12_1306+34delinsAGGCCCCCACAGTGAGCATGCCG)
c.1852+12_1852+34delinsAGGCCCCCACAGTGAGCATGCCG (n.1852+12_1852+34delinsAGGCCCCCACAGTGAGCATGCCG)
c.1864_*8delinsAGGCCCCCACAGTGAGCATGCCG (n.[c.1864_*8delinsAGGCCCCCACAGTGAGCATGCCG;Arg622=])
9g.127815910G>ACA200301470ENGc.1306+33C>T (n.1306+33C>T)
c.1852+33C>T (n.1852+33C>T)
c.*7C>T (n.*7C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.127815910G>CCA2691805838ENGc.1306+33C>G (n.1306+33C>G)
c.1852+33C>G (n.1852+33C>G)
c.*7C>G (n.*7C>G)
 gnomAD v4
9g.127815910G=CA1879981713ENGc.1306+33C= (n.1306+33C=)
c.1852+33C= (n.1852+33C=)
c.*7C= (n.*7C=)
9g.127815910G>TCA2691805839ENGc.1306+33C>A (n.1306+33C>A)
c.1852+33C>A (n.1852+33C>A)
c.*7C>A (n.*7C>A)
 gnomAD v4
9g.127815912_127815933delCA590939374ENGc.1306+12_1306+33del (n.1306+12_1306+33del)
c.1852+12_1852+33del (n.1852+12_1852+33del)
c.1864_*7del (n.[c.1864_*7del;Arg622GlyfsTer11])
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.127815911G>ACA2691805840ENGc.1306+32C>T (n.1306+32C>T)
c.1852+32C>T (n.1852+32C>T)
c.*6C>T (n.*6C>T)
 gnomAD v4
9g.127815911G>CCA2691805842ENGc.1306+32C>G (n.1306+32C>G)
c.1852+32C>G (n.1852+32C>G)
c.*6C>G (n.*6C>G)
 gnomAD v4
9g.127815911G>TCA2691805841ENGc.1306+32C>A (n.1306+32C>A)
c.1852+32C>A (n.1852+32C>A)
c.*6C>A (n.*6C>A)
 gnomAD v4
9g.127815912C>ACA2691805843ENGc.1306+31G>T (n.1306+31G>T)
c.1852+31G>T (n.1852+31G>T)
c.*5G>T (n.*5G>T)
 gnomAD v4
9g.127815912C=CA1879981716ENGc.1306+31G= (n.1306+31G=)
c.1852+31G= (n.1852+31G=)
c.*5G= (n.*5G=)
9g.127815912C>TCA590939375ENGc.1306+31G>A (n.1306+31G>A)
c.1852+31G>A (n.1852+31G>A)
c.*5G>A (n.*5G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.127815913A=CA1879981722ENGc.1306+30T= (n.1306+30T=)
c.1852+30T= (n.1852+30T=)
c.*4T= (n.*4T=)
9g.127815913A>CCA1879981721ENGc.1306+30T>G (n.1306+30T>G)
c.1852+30T>G (n.1852+30T>G)
c.*4T>G (n.*4T>G)
 dbSNP gnomAD v4
9g.127815913A>GCA5252616ENGc.1306+30T>C (n.1306+30T>C)
c.1852+30T>C (n.1852+30T>C)
c.*4T>C (n.*4T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127815914T>ACA2691805844ENGc.1306+29A>T (n.1306+29A>T)
c.1852+29A>T (n.1852+29A>T)
c.*3A>T (n.*3A>T)
 gnomAD v4
9g.127815915G>ACA1879981724ENGc.1306+28C>T (n.1306+28C>T)
c.1852+28C>T (n.1852+28C>T)
c.*2C>T (n.*2C>T)
 dbSNP gnomAD v4
9g.127815915G=CA1879981723ENGc.1306+28C= (n.1306+28C=)
c.1852+28C= (n.1852+28C=)
c.*2C= (n.*2C=)
9g.127815915G>TCA2691805845ENGc.1306+28C>A (n.1306+28C>A)
c.1852+28C>A (n.1852+28C>A)
c.*2C>A (n.*2C>A)
 gnomAD v4
9g.127815916C>ACA2691805846ENGc.1306+27G>T (n.1306+27G>T)
c.1852+27G>T (n.1852+27G>T)
c.*1G>T (n.*1G>T)
 gnomAD v4
9g.127815916C=CA1879981725ENGc.1306+27G= (n.1306+27G=)
c.1852+27G= (n.1852+27G=)
c.*1G= (n.*1G=)
9g.127815916C>TCA590939376ENGc.1306+27G>A (n.1306+27G>A)
c.1852+27G>A (n.1852+27G>A)
c.*1G>A (n.*1G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.127815917T>ACA374971136ENGc.1306+26A>T (n.1306+26A>T)
c.1852+26A>T (n.1852+26A>T)
c.1878A>T (p.Ter626Cys)
9g.127815917T>CCA374971122ENGc.1306+26A>G (n.1306+26A>G)
c.1852+26A>G (n.1852+26A>G)
c.1878A>G (p.Ter626Trp)
 gnomAD v4
9g.127815917T>GCA374971130ENGc.1306+26A>C (n.1306+26A>C)
c.1852+26A>C (n.1852+26A>C)
c.1878A>C (p.Ter626Cys)
9g.127815918C>ACA374971143ENGc.1306+25G>T (n.1306+25G>T)
c.1852+25G>T (n.1852+25G>T)
c.1877G>T (p.Ter626Leu)
 gnomAD v4
9g.127815918C=CA1879981730ENGc.1306+25G= (n.1306+25G=)
c.1852+25G= (n.1852+25G=)
c.1877G= (p.Ter626=)
9g.127815918C>GCA374971160ENGc.1306+25G>C (n.1306+25G>C)
c.1852+25G>C (n.1852+25G>C)
c.1877G>C (p.Ter626Ser)
 dbSNP gnomAD v2 gnomAD v4
9g.127815918C>TCA590939377ENGc.1306+25G>A (n.1306+25G>A)
c.1852+25G>A (n.1852+25G>A)
c.1877G>A (p.Ter626=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.127815919A>CCA374971180ENGc.1306+24T>G (n.1306+24T>G)
c.1852+24T>G (n.1852+24T>G)
c.1876T>G (p.Ter626Gly)
9g.127815919A>GCA374971183ENGc.1306+24T>C (n.1306+24T>C)
c.1852+24T>C (n.1852+24T>C)
c.1876T>C (p.Ter626Arg)
 gnomAD v4
9g.127815919A>TCA374971190ENGc.1306+24T>A (n.1306+24T>A)
c.1852+24T>A (n.1852+24T>A)
c.1876T>A (p.Ter626Arg)
9g.127815920C>ACA374971198ENGc.1306+23G>T (n.1306+23G>T)
c.1852+23G>T (n.1852+23G>T)
c.1875G>T (p.Gln625His)
 gnomAD v4
9g.127815920C>GCA374971204ENGc.1306+23G>C (n.1306+23G>C)
c.1852+23G>C (n.1852+23G>C)
c.1875G>C (p.Gln625His)
9g.127815920C>TCA2691805847ENGc.1306+23G>A (n.1306+23G>A)
c.1852+23G>A (n.1852+23G>A)
c.1875G>A (p.Gln625=)
 ClinVar gnomAD v4
9g.127815921T>ACA374971210ENGc.1306+22A>T (n.1306+22A>T)
c.1852+22A>T (n.1852+22A>T)
c.1874A>T (p.Gln625Leu)
9g.127815921T>CCA374971245ENGc.1306+22A>G (n.1306+22A>G)
c.1852+22A>G (n.1852+22A>G)
c.1874A>G (p.Gln625Arg)
 gnomAD v4
9g.127815921T>GCA374971261ENGc.1306+22A>C (n.1306+22A>C)
c.1852+22A>C (n.1852+22A>C)
c.1874A>C (p.Gln625Pro)
9g.127815923_127815924delCA2695199410ENGc.1306+21_1306+22del (n.1306+21_1306+22del)
c.1852+21_1852+22del (n.1852+21_1852+22del)
c.1873_1874del (p.Gln625ValfsTer?)
 ClinVar
9g.127815922G>ACA374971272ENGc.1306+21C>T (n.1306+21C>T)
c.1852+21C>T (n.1852+21C>T)
c.1873C>T (p.Gln625Ter)
 ClinVar dbSNP gnomAD v4
9g.127815922G>CCA5252617ENGc.1306+21C>G (n.1306+21C>G)
c.1852+21C>G (n.1852+21C>G)
c.1873C>G (p.Gln625Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127815922G=CA1879981734ENGc.1306+21C= (n.1306+21C=)
c.1852+21C= (n.1852+21C=)
c.1873C= (p.Gln625=)
9g.127815922G>TCA374971288ENGc.1306+21C>A (n.1306+21C>A)
c.1852+21C>A (n.1852+21C>A)
c.1873C>A (p.Gln625Lys)
9g.127815923T>CCA5252618ENGc.1306+20A>G (n.1306+20A>G)
c.1852+20A>G (n.1852+20A>G)
c.1872A>G (p.Pro624=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127815923T>GCA2691805848ENGc.1306+20A>C (n.1306+20A>C)
c.1852+20A>C (n.1852+20A>C)
c.1872A>C (p.Pro624=)
 gnomAD v4
9g.127815923T=CA1879981738ENGc.1306+20A= (n.1306+20A=)
c.1852+20A= (n.1852+20A=)
c.1872A= (p.Pro624=)
9g.127815924G>ACA374971292ENGc.1306+19C>T (n.1306+19C>T)
c.1852+19C>T (n.1852+19C>T)
c.1871C>T (p.Pro624Leu)
 gnomAD v4
9g.127815924G>CCA374971289ENGc.1306+19C>G (n.1306+19C>G)
c.1852+19C>G (n.1852+19C>G)
c.1871C>G (p.Pro624Arg)
9g.127815924G>TCA374971290ENGc.1306+19C>A (n.1306+19C>A)
c.1852+19C>A (n.1852+19C>A)
c.1871C>A (p.Pro624Gln)
 gnomAD v4 COSMIC
9g.127815928delCA2691805849ENGc.1306+19del (n.1306+19del)
c.1852+19del (n.1852+19del)
c.1871del (p.Pro624HisfsTer16)
 gnomAD v4
9g.127815925G>ACA374971294ENGc.1306+18C>T (n.1306+18C>T)
c.1852+18C>T (n.1852+18C>T)
c.1870C>T (p.Pro624Ser)
 gnomAD v4
9g.127815925G>CCA374971304ENGc.1306+18C>G (n.1306+18C>G)
c.1852+18C>G (n.1852+18C>G)
c.1870C>G (p.Pro624Ala)
9g.127815925G>TCA374971312ENGc.1306+18C>A (n.1306+18C>A)
c.1852+18C>A (n.1852+18C>A)
c.1870C>A (p.Pro624Thr)
 gnomAD v4
9g.127815926G>ACA2691805850ENGc.1306+17C>T (n.1306+17C>T)
c.1852+17C>T (n.1852+17C>T)
c.1869C>T (p.Pro623=)
 gnomAD v4
9g.127815926G>TCA2691805851ENGc.1306+17C>A (n.1306+17C>A)
c.1852+17C>A (n.1852+17C>A)
c.1869C>A (p.Pro623=)
 gnomAD v4
9g.127815927G>ACA374971316ENGc.1306+16C>T (n.1306+16C>T)
c.1852+16C>T (n.1852+16C>T)
c.1868C>T (p.Pro623Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.127815927G>CCA374971320ENGc.1306+16C>G (n.1306+16C>G)
c.1852+16C>G (n.1852+16C>G)
c.1868C>G (p.Pro623Arg)
9g.127815927G=CA1879981740ENGc.1306+16C= (n.1306+16C=)
c.1852+16C= (n.1852+16C=)
c.1868C= (p.Pro623=)
9g.127815927G>TCA374971324ENGc.1306+16C>A (n.1306+16C>A)
c.1852+16C>A (n.1852+16C>A)
c.1868C>A (p.Pro623His)
9g.127815928G>ACA374971327ENGc.1306+15C>T (n.1306+15C>T)
c.1852+15C>T (n.1852+15C>T)
c.1867C>T (p.Pro623Ser)
 gnomAD v4
9g.127815928G>CCA374971329ENGc.1306+15C>G (n.1306+15C>G)
c.1852+15C>G (n.1852+15C>G)
c.1867C>G (p.Pro623Ala)
9g.127815928G>TCA374971330ENGc.1306+15C>A (n.1306+15C>A)
c.1852+15C>A (n.1852+15C>A)
c.1867C>A (p.Pro623Thr)
 gnomAD v4
9g.127815929C>ACA374971339ENGc.1306+14G>T (n.1306+14G>T)
c.1852+14G>T (n.1852+14G>T)
c.1866G>T (p.Arg622Ser)
 gnomAD v4
9g.127815929C>GCA374971342ENGc.1306+14G>C (n.1306+14G>C)
c.1852+14G>C (n.1852+14G>C)
c.1866G>C (p.Arg622Ser)
9g.127815929C>TCA2691805852ENGc.1306+14G>A (n.1306+14G>A)
c.1852+14G>A (n.1852+14G>A)
c.1866G>A (p.Arg622=)
 gnomAD v4
9g.127815930C>ACA374971344ENGc.1306+13G>T (n.1306+13G>T)
c.1852+13G>T (n.1852+13G>T)
c.1865G>T (p.Arg622Met)
 gnomAD v4
9g.127815930C=CA1879981747ENGc.1306+13G= (n.1306+13G=)
c.1852+13G= (n.1852+13G=)
c.1865G= (p.Arg622=)
9g.127815930C>GCA374971355ENGc.1306+13G>C (n.1306+13G>C)
c.1852+13G>C (n.1852+13G>C)
c.1865G>C (p.Arg622Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.127815930C>TCA374971343ENGc.1306+13G>A (n.1306+13G>A)
c.1852+13G>A (n.1852+13G>A)
c.1865G>A (p.Arg622Lys)
 gnomAD v4
9g.127815931T>ACA374971361ENGc.1306+12A>T (n.1306+12A>T)
c.1852+12A>T (n.1852+12A>T)
c.1864A>T (p.Arg622Trp)
9g.127815931T>CCA374971362ENGc.1306+12A>G (n.1306+12A>G)
c.1852+12A>G (n.1852+12A>G)
c.1864A>G (p.Arg622Gly)
 gnomAD v4
9g.127815932G>ACA1129273340ENGc.1306+11C>T (n.1306+11C>T)
c.1852+11C>T (n.1852+11C>T)
c.1863C>T (p.Pro621=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.127815932G=CA1879981750ENGc.1306+11C= (n.1306+11C=)
c.1852+11C= (n.1852+11C=)
c.1863C= (p.Pro621=)
9g.127815932G>TCA645553523ENGc.1306+11C>A (n.1306+11C>A)
c.1852+11C>A (n.1852+11C>A)
c.1863C>A (p.Pro621=)
 gnomAD v4 COSMIC
9g.127815933G>ACA374971363ENGc.1306+10C>T (n.1306+10C>T)
c.1852+10C>T (n.1852+10C>T)
c.1862C>T (p.Pro621Leu)
 gnomAD v4
9g.127815933G>CCA374971379ENGc.1306+10C>G (n.1306+10C>G)
c.1852+10C>G (n.1852+10C>G)
c.1862C>G (p.Pro621Arg)
9g.127815933G>TCA374971389ENGc.1306+10C>A (n.1306+10C>A)
c.1852+10C>A (n.1852+10C>A)
c.1862C>A (p.Pro621His)
 gnomAD v4
9g.127815934G>ACA374971403ENGc.1306+9C>T (n.1306+9C>T)
c.1852+9C>T (n.1852+9C>T)
c.1861C>T (p.Pro621Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.127815934G>CCA374971393ENGc.1306+9C>G (n.1306+9C>G)
c.1852+9C>G (n.1852+9C>G)
c.1861C>G (p.Pro621Ala)
 gnomAD v4
9g.127815934G=CA1879981755ENGc.1306+9C= (n.1306+9C=)
c.1852+9C= (n.1852+9C=)
c.1861C= (p.Pro621=)
9g.127815934G>TCA374971396ENGc.1306+9C>A (n.1306+9C>A)
c.1852+9C>A (n.1852+9C>A)
c.1861C>A (p.Pro621Thr)
 dbSNP gnomAD v3 gnomAD v4
9g.127815935G>ACA2691805853ENGc.1306+8C>T (n.1306+8C>T)
c.1852+8C>T (n.1852+8C>T)
c.1860C>T (p.Tyr620=)
 gnomAD v4
9g.127815935G>CCA374971409ENGc.1306+8C>G (n.1306+8C>G)
c.1852+8C>G (n.1852+8C>G)
c.1860C>G (p.Tyr620Ter)
9g.127815935G=CA1879981760ENGc.1306+8C= (n.1306+8C=)
c.1852+8C= (n.1852+8C=)
c.1860C= (p.Tyr620=)
9g.127815935G>TCA200301505ENGc.1306+8C>A (n.1306+8C>A)
c.1852+8C>A (n.1852+8C>A)
c.1860C>A (p.Tyr620Ter)
 dbSNP gnomAD v4
9g.127815936T>ACA374971410ENGc.1306+7A>T (n.1306+7A>T)
c.1852+7A>T (n.1852+7A>T)
c.1859A>T (p.Tyr620Phe)
9g.127815936T>CCA374971412ENGc.1306+7A>G (n.1306+7A>G)
c.1852+7A>G (n.1852+7A>G)
c.1859A>G (p.Tyr620Cys)
9g.127815936T>GCA374971416ENGc.1306+7A>C (n.1306+7A>C)
c.1852+7A>C (n.1852+7A>C)
c.1859A>C (p.Tyr620Ser)
 dbSNP
9g.127815936T=CA1879981763ENGc.1306+7A= (n.1306+7A=)
c.1852+7A= (n.1852+7A=)
c.1859A= (p.Tyr620=)
9g.127815937A>CCA374971419ENGc.1306+6T>G (n.1306+6T>G)
c.1852+6T>G (n.1852+6T>G)
c.1858T>G (p.Tyr620Asp)
9g.127815937A>GCA374971424ENGc.1306+6T>C (n.1306+6T>C)
c.1852+6T>C (n.1852+6T>C)
c.1858T>C (p.Tyr620His)
9g.127815937A>TCA374971420ENGc.1306+6T>A (n.1306+6T>A)
c.1852+6T>A (n.1852+6T>A)
c.1858T>A (p.Tyr620Asn)
9g.127815938C>ACA374971430ENGc.1306+5G>T (n.1306+5G>T)
c.1852+5G>T (n.1852+5G>T)
c.1857G>T (p.Glu619Asp)
9g.127815938C>GCA374971434ENGc.1306+5G>C (n.1306+5G>C)
c.1852+5G>C (n.1852+5G>C)
c.1857G>C (p.Glu619Asp)
9g.127815939T>ACA374971443ENGc.1306+4A>T (n.1306+4A>T)
c.1852+4A>T (n.1852+4A>T)
c.1856A>T (p.Glu619Val)
9g.127815939T>CCA374971446ENGc.1306+4A>G (n.1306+4A>G)
c.1852+4A>G (n.1852+4A>G)
c.1856A>G (p.Glu619Gly)
 gnomAD v4
9g.127815939T>GCA374971450ENGc.1306+4A>C (n.1306+4A>C)
c.1852+4A>C (n.1852+4A>C)
c.1856A>C (p.Glu619Ala)
9g.127815940C>ACA374971461ENGc.1306+3G>T (n.1306+3G>T)
c.1852+3G>T (n.1852+3G>T)
c.1855G>T (p.Glu619Ter)
 gnomAD v4
9g.127815940C>GCA374971462ENGc.1306+3G>C (n.1306+3G>C)
c.1852+3G>C (n.1852+3G>C)
c.1855G>C (p.Glu619Gln)
9g.127815940C>TCA374971467ENGc.1306+3G>A (n.1306+3G>A)
c.1852+3G>A (n.1852+3G>A)
c.1855G>A (p.Glu619Lys)
 ClinVar
9g.127815941A>CCA374971473ENGc.1306+2T>G (n.1306+2T>G)
c.1852+2T>G (n.1852+2T>G)
c.1854T>G (p.Arg618=)
9g.127815941A>GCA374971476ENGc.1306+2T>C (n.1306+2T>C)
c.1852+2T>C (n.1852+2T>C)
c.1854T>C (p.Arg618=)
 gnomAD v4
9g.127815941A>TCA374971488ENGc.1306+2T>A (n.1306+2T>A)
c.1852+2T>A (n.1852+2T>A)
c.1854T>A (p.Arg618=)
9g.127815942C>ACA374971491ENGc.1306+1G>T (n.1306+1G>T)
c.1852+1G>T (n.1852+1G>T)
c.1853G>T (p.Arg618Leu)
 gnomAD v4
9g.127815942C>GCA374971499ENGc.1306+1G>C (n.1306+1G>C)
c.1852+1G>C (n.1852+1G>C)
c.1853G>C (p.Arg618Pro)
 ClinVar dbSNP
9g.127815942C>TCA374971500ENGc.1306+1G>A (n.1306+1G>A)
c.1852+1G>A (n.1852+1G>A)
c.1853G>A (p.Arg618His)
 gnomAD v4
9g.127815943G>ACA374971519ENGc.1306C>T (p.Arg436Cys)
c.1852C>T (p.Arg618Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.127815943G>CCA374971515ENGc.1306C>G (p.Arg436Gly)
c.1852C>G (p.Arg618Gly)
 ClinVar gnomAD v4
9g.127815943G=CA1879981769ENGc.1306C= (p.Arg436=)
c.1852C= (p.Arg618=)
9g.127815943G>TCA374971513ENGc.1306C>A (p.Arg436Ser)
c.1852C>A (p.Arg618Ser)
 gnomAD v4 COSMIC COSMIC
9g.127815944C>ACA467474302ENGc.1305G>T (p.Thr435=)
c.1851G>T (p.Thr617=)
 gnomAD v4
9g.127815944C=CA1879981777ENGc.1305G= (p.Thr435=)
c.1851G= (p.Thr617=)
9g.127815944C>GCA467474305ENGc.1305G>C (p.Thr435=)
c.1851G>C (p.Thr617=)
 dbSNP
9g.127815944C>TCA5252619ENGc.1305G>A (p.Thr435=)
c.1851G>A (p.Thr617=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.127815945G>ACA5252620ENGc.1304C>T (p.Thr435Met)
c.1850C>T (p.Thr617Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127815945G>CCA374971523ENGc.1304C>G (p.Thr435Arg)
c.1850C>G (p.Thr617Arg)
9g.127815945G=CA1879981787ENGc.1304C= (p.Thr435=)
c.1850C= (p.Thr617=)
9g.127815945G>TCA5252621ENGc.1304C>A (p.Thr435Lys)
c.1850C>A (p.Thr617Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.127815946T>ACA374971529ENGc.1303A>T (p.Thr435Ser)
c.1849A>T (p.Thr617Ser)
9g.127815946T>CCA374971530ENGc.1303A>G (p.Thr435Ala)
c.1849A>G (p.Thr617Ala)
9g.127815946T>GCA374971531ENGc.1303A>C (p.Thr435Pro)
c.1849A>C (p.Thr617Pro)
9g.127815947G>ACA467474320ENGc.1302C>T (p.His434=)
c.1848C>T (p.His616=)
 gnomAD v4
9g.127815947G>CCA374971534ENGc.1302C>G (p.His434Gln)
c.1848C>G (p.His616Gln)
9g.127815947G>TCA374971540ENGc.1302C>A (p.His434Gln)
c.1848C>A (p.His616Gln)
9g.127815948T>ACA374971551ENGc.1301A>T (p.His434Leu)
c.1847A>T (p.His616Leu)
9g.127815948T>CCA374971565ENGc.1301A>G (p.His434Arg)
c.1847A>G (p.His616Arg)
9g.127815948T>GCA374971574ENGc.1301A>C (p.His434Pro)
c.1847A>C (p.His616Pro)
9g.127815949G>ACA374971597ENGc.1300C>T (p.His434Tyr)
c.1846C>T (p.His616Tyr)
9g.127815949G>CCA374971592ENGc.1300C>G (p.His434Asp)
c.1846C>G (p.His616Asp)
9g.127815949G>TCA374971591ENGc.1300C>A (p.His434Asn)
c.1846C>A (p.His616Asn)
9g.127815950C>ACA5252622ENGc.1299G>T (p.Ser433=)
c.1845G>T (p.Ser615=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127815950C=CA1879981792ENGc.1299G= (p.Ser433=)
c.1845G= (p.Ser615=)
9g.127815950C>GCA467474326ENGc.1299G>C (p.Ser433=)
c.1845G>C (p.Ser615=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.127815950C>TCA467474327ENGc.1299G>A (p.Ser433=)
c.1845G>A (p.Ser615=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.127815951G>ACA211415ENGc.1298C>T (p.Ser433Leu)
c.1844C>T (p.Ser615Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127815951G>CCA5252623ENGc.1298C>G (p.Ser433Trp)
c.1844C>G (p.Ser615Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127815951G=CA1879981805ENGc.1298C= (p.Ser433=)
c.1844C= (p.Ser615=)
9g.127815951G>TCA374971617ENGc.1298C>A (p.Ser433Ter)
c.1844C>A (p.Ser615Ter)
 gnomAD v4
9g.127815952A>CCA374971618ENGc.1297T>G (p.Ser433Ala)
c.1843T>G (p.Ser615Ala)
9g.127815952A>GCA374971622ENGc.1297T>C (p.Ser433Pro)
c.1843T>C (p.Ser615Pro)
 gnomAD v4
9g.127815952A>TCA374971623ENGc.1297T>A (p.Ser433Thr)
c.1843T>A (p.Ser615Thr)
9g.127815953G>ACA467474331ENGc.1296C>T (p.Tyr432=)
c.1842C>T (p.Tyr614=)
 dbSNP gnomAD v4
9g.127815953G>CCA374971624ENGc.1296C>G (p.Tyr432Ter)
c.1842C>G (p.Tyr614Ter)
9g.127815953G=CA1879981808ENGc.1296C= (p.Tyr432=)
c.1842C= (p.Tyr614=)
9g.127815953G>TCA374971631ENGc.1296C>A (p.Tyr432Ter)
c.1842C>A (p.Tyr614Ter)
9g.127815954T>ACA374971632ENGc.1295A>T (p.Tyr432Phe)
c.1841A>T (p.Tyr614Phe)
9g.127815954T>CCA374971633ENGc.1295A>G (p.Tyr432Cys)
c.1841A>G (p.Tyr614Cys)
 gnomAD v4
9g.127815954T>GCA374971634ENGc.1295A>C (p.Tyr432Ser)
c.1841A>C (p.Tyr614Ser)
9g.127815955A=CA1879981810ENGc.1294T= (p.Tyr432=)
c.1840T= (p.Tyr614=)
9g.127815955A>CCA374971665ENGc.1294T>G (p.Tyr432Asp)
c.1840T>G (p.Tyr614Asp)
9g.127815955A>GCA374971660ENGc.1294T>C (p.Tyr432His)
c.1840T>C (p.Tyr614His)
 dbSNP
9g.127815955A>TCA374971639ENGc.1294T>A (p.Tyr432Asn)
c.1840T>A (p.Tyr614Asn)
9g.127815956G>ACA467474340ENGc.1293C>T (p.Ile431=)
c.1839C>T (p.Ile613=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.127815956G>CCA374971681ENGc.1293C>G (p.Ile431Met)
c.1839C>G (p.Ile613Met)
 COSMIC
9g.127815956G=CA1879981814ENGc.1293C= (p.Ile431=)
c.1839C= (p.Ile613=)
9g.127815956G>TCA467474341ENGc.1293C>A (p.Ile431=)
c.1839C>A (p.Ile613=)
 gnomAD v4
9g.127815957A>CCA374971686ENGc.1292T>G (p.Ile431Ser)
c.1838T>G (p.Ile613Ser)
9g.127815957A>GCA374971689ENGc.1292T>C (p.Ile431Thr)
c.1838T>C (p.Ile613Thr)
9g.127815957A>TCA374971691ENGc.1292T>A (p.Ile431Asn)
c.1838T>A (p.Ile613Asn)
9g.127815958T>ACA374971697ENGc.1291A>T (p.Ile431Phe)
c.1837A>T (p.Ile613Phe)
9g.127815958T>CCA374971701ENGc.1291A>G (p.Ile431Val)
c.1837A>G (p.Ile613Val)
 gnomAD v4
9g.127815958T>GCA374971707ENGc.1291A>C (p.Ile431Leu)
c.1837A>C (p.Ile613Leu)
9g.127815959G>ACA467474350ENGc.1290C>T (p.Tyr430=)
c.1836C>T (p.Tyr612=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.127815959G>CCA374971709ENGc.1290C>G (p.Tyr430Ter)
c.1836C>G (p.Tyr612Ter)
9g.127815959G=CA1879981816ENGc.1290C= (p.Tyr430=)
c.1836C= (p.Tyr612=)
9g.127815959G>TCA374971719ENGc.1290C>A (p.Tyr430Ter)
c.1836C>A (p.Tyr612Ter)
 gnomAD v4
9g.127815960T>ACA374971731ENGc.1289A>T (p.Tyr430Phe)
c.1835A>T (p.Tyr612Phe)
9g.127815960T>CCA374971739ENGc.1289A>G (p.Tyr430Cys)
c.1835A>G (p.Tyr612Cys)
9g.127815960T>GCA374971742ENGc.1289A>C (p.Tyr430Ser)
c.1835A>C (p.Tyr612Ser)
9g.127815961A>CCA374971748ENGc.1288T>G (p.Tyr430Asp)
c.1834T>G (p.Tyr612Asp)
9g.127815961A>GCA374971755ENGc.1288T>C (p.Tyr430His)
c.1834T>C (p.Tyr612His)
9g.127815961A>TCA374971750ENGc.1288T>A (p.Tyr430Asn)
c.1834T>A (p.Tyr612Asn)
 gnomAD v4
9g.127815962C>ACA374971759ENGc.1287G>T (p.Trp429Cys)
c.1833G>T (p.Trp611Cys)
9g.127815962C>GCA374971761ENGc.1287G>C (p.Trp429Cys)
c.1833G>C (p.Trp611Cys)
9g.127815962C>TCA374971760ENGc.1287G>A (p.Trp429Ter)
c.1833G>A (p.Trp611Ter)
9g.127815963C>ACA374971763ENGc.1286G>T (p.Trp429Leu)
c.1832G>T (p.Trp611Leu)
9g.127815963C>GCA374971768ENGc.1286G>C (p.Trp429Ser)
c.1832G>C (p.Trp611Ser)
9g.127815963C>TCA374971767ENGc.1286G>A (p.Trp429Ter)
c.1832G>A (p.Trp611Ter)
9g.127815964A>CCA374971769ENGc.1285T>G (p.Trp429Gly)
c.1831T>G (p.Trp611Gly)
9g.127815964A>GCA374971770ENGc.1285T>C (p.Trp429Arg)
c.1831T>C (p.Trp611Arg)
9g.127815964A>TCA374971771ENGc.1285T>A (p.Trp429Arg)
c.1831T>A (p.Trp611Arg)
9g.127815965G>ACA467474365ENGc.1284C>T (p.Leu428=)
c.1830C>T (p.Leu610=)
9g.127815965G>CCA467474364ENGc.1284C>G (p.Leu428=)
c.1830C>G (p.Leu610=)
9g.127815965G>TCA467474362ENGc.1284C>A (p.Leu428=)
c.1830C>A (p.Leu610=)
 gnomAD v4
9g.127815966A>CCA374971777ENGc.1283T>G (p.Leu428Arg)
c.1829T>G (p.Leu610Arg)
9g.127815966A>GCA374971782ENGc.1283T>C (p.Leu428Pro)
c.1829T>C (p.Leu610Pro)
9g.127815966A>TCA374971786ENGc.1283T>A (p.Leu428His)
c.1829T>A (p.Leu610His)
9g.127815967G>ACA374971788ENGc.1282C>T (p.Leu428Phe)
c.1828C>T (p.Leu610Phe)
 gnomAD v4
9g.127815967G>CCA374971789ENGc.1282C>G (p.Leu428Val)
c.1828C>G (p.Leu610Val)
9g.127815967G>TCA374971790ENGc.1282C>A (p.Leu428Ile)
c.1828C>A (p.Leu610Ile)
9g.127815968T>ACA467474369ENGc.1281A>T (p.Ala427=)
c.1827A>T (p.Ala609=)
 gnomAD v4
9g.127815968T>CCA467474370ENGc.1281A>G (p.Ala427=)
c.1827A>G (p.Ala609=)
 dbSNP gnomAD v2 gnomAD v4
9g.127815968T>GCA467474371ENGc.1281A>C (p.Ala427=)
c.1827A>C (p.Ala609=)
9g.127815968T=CA1879981819ENGc.1281A= (p.Ala427=)
c.1827A= (p.Ala609=)
9g.127815969G>ACA374971795ENGc.1280C>T (p.Ala427Val)
c.1826C>T (p.Ala609Val)
 ClinVar dbSNP gnomAD v2
9g.127815969G>CCA374971798ENGc.1280C>G (p.Ala427Gly)
c.1826C>G (p.Ala609Gly)
9g.127815969G=CA1879981823ENGc.1280C= (p.Ala427=)
c.1826C= (p.Ala609=)
9g.127815969G>TCA374971803ENGc.1280C>A (p.Ala427Glu)
c.1826C>A (p.Ala609Glu)
 gnomAD v4
9g.127815970C>ACA374971819ENGc.1279G>T (p.Ala427Ser)
c.1825G>T (p.Ala609Ser)
9g.127815970C>GCA374971817ENGc.1279G>C (p.Ala427Pro)
c.1825G>C (p.Ala609Pro)
9g.127815970C>TCA374971814ENGc.1279G>A (p.Ala427Thr)
c.1825G>A (p.Ala609Thr)
 gnomAD v4
9g.127815971A>CCA467474373ENGc.1278T>G (p.Ala426=)
c.1824T>G (p.Ala608=)
9g.127815971A>GCA467474374ENGc.1278T>C (p.Ala426=)
c.1824T>C (p.Ala608=)
9g.127815971A>TCA467474375ENGc.1278T>A (p.Ala426=)
c.1824T>A (p.Ala608=)
9g.127815972G>ACA374971826ENGc.1277C>T (p.Ala426Val)
c.1823C>T (p.Ala608Val)
9g.127815972G>CCA374971831ENGc.1277C>G (p.Ala426Gly)
c.1823C>G (p.Ala608Gly)
9g.127815972G>TCA374971840ENGc.1277C>A (p.Ala426Asp)
c.1823C>A (p.Ala608Asp)
 gnomAD v4
9g.127815973C>ACA374971853ENGc.1276G>T (p.Ala426Ser)
c.1822G>T (p.Ala608Ser)
9g.127815973C>GCA374971857ENGc.1276G>C (p.Ala426Pro)
c.1822G>C (p.Ala608Pro)
9g.127815973C>TCA374971862ENGc.1276G>A (p.Ala426Thr)
c.1822G>A (p.Ala608Thr)
 gnomAD v4
9g.127815974A>CCA467474378ENGc.1275T>G (p.Thr425=)
c.1821T>G (p.Thr607=)
9g.127815974A>GCA467474379ENGc.1275T>C (p.Thr425=)
c.1821T>C (p.Thr607=)
 ClinVar
9g.127815974A>TCA467474380ENGc.1275T>A (p.Thr425=)
c.1821T>A (p.Thr607=)
9g.127815975G>ACA374971866ENGc.1274C>T (p.Thr425Ile)
c.1820C>T (p.Thr607Ile)
 gnomAD v4
9g.127815975G>CCA374971870ENGc.1274C>G (p.Thr425Ser)
c.1820C>G (p.Thr607Ser)
9g.127815975G>TCA374971878ENGc.1274C>A (p.Thr425Asn)
c.1820C>A (p.Thr607Asn)
9g.127815976T>ACA374971883ENGc.1273A>T (p.Thr425Ser)
c.1819A>T (p.Thr607Ser)
9g.127815976T>CCA374971885ENGc.1273A>G (p.Thr425Ala)
c.1819A>G (p.Thr607Ala)
 COSMIC COSMIC
9g.127815976T>GCA374971888ENGc.1273A>C (p.Thr425Pro)
c.1819A>C (p.Thr607Pro)
9g.127815977G>ACA467474382ENGc.1272C>T (p.Leu424=)
c.1818C>T (p.Leu606=)
9g.127815977G>CCA467474383ENGc.1272C>G (p.Leu424=)
c.1818C>G (p.Leu606=)
9g.127815977G=CA1879981828ENGc.1272C= (p.Leu424=)
c.1818C= (p.Leu606=)
9g.127815977G>TCA467474384ENGc.1272C>A (p.Leu424=)
c.1818C>A (p.Leu606=)
 ClinVar dbSNP gnomAD v4
9g.127815978A>CCA374971895ENGc.1271T>G (p.Leu424Arg)
c.1817T>G (p.Leu606Arg)
9g.127815978A>GCA374971914ENGc.1271T>C (p.Leu424Pro)
c.1817T>C (p.Leu606Pro)
9g.127815978A>TCA374971899ENGc.1271T>A (p.Leu424His)
c.1817T>A (p.Leu606His)
9g.127815979G>ACA374971917ENGc.1270C>T (p.Leu424Phe)
c.1816C>T (p.Leu606Phe)
 dbSNP gnomAD v2 gnomAD v4
9g.127815979G>CCA374971918ENGc.1270C>G (p.Leu424Val)
c.1816C>G (p.Leu606Val)
9g.127815979G=CA1879981833ENGc.1270C= (p.Leu424=)
c.1816C= (p.Leu606=)
9g.127815979G>TCA374971922ENGc.1270C>A (p.Leu424Ile)
c.1816C>A (p.Leu606Ile)
 gnomAD v4
9g.127815980C>ACA467474387ENGc.1269G>T (p.Leu423=)
c.1815G>T (p.Leu605=)
9g.127815980C>GCA467474389ENGc.1269G>C (p.Leu423=)
c.1815G>C (p.Leu605=)
9g.127815980C>TCA467474391ENGc.1269G>A (p.Leu423=)
c.1815G>A (p.Leu605=)
 ClinVar dbSNP gnomAD v4
9g.127815981A>CCA374971935ENGc.1268T>G (p.Leu423Arg)
c.1814T>G (p.Leu605Arg)
9g.127815981A>GCA374971943ENGc.1268T>C (p.Leu423Pro)
c.1814T>C (p.Leu605Pro)
 gnomAD v4
9g.127815981A>TCA374971945ENGc.1268T>A (p.Leu423Gln)
c.1814T>A (p.Leu605Gln)
9g.127815982G>ACA467474393ENGc.1267C>T (p.Leu423=)
c.1813C>T (p.Leu605=)
9g.127815982G>CCA374971948ENGc.1267C>G (p.Leu423Val)
c.1813C>G (p.Leu605Val)
9g.127815982G>TCA374971953ENGc.1267C>A (p.Leu423Met)
c.1813C>A (p.Leu605Met)
9g.127815983G>ACA467474395ENGc.1266C>T (p.Ala422=)
c.1812C>T (p.Ala604=)
9g.127815983G>CCA467474396ENGc.1266C>G (p.Ala422=)
c.1812C>G (p.Ala604=)
9g.127815983G>TCA467474397ENGc.1266C>A (p.Ala422=)
c.1812C>A (p.Ala604=)
 gnomAD v4
9g.127815984G>ACA374971968ENGc.1265C>T (p.Ala422Val)
c.1811C>T (p.Ala604Val)
 dbSNP gnomAD v4
9g.127815984G>CCA374971969ENGc.1265C>G (p.Ala422Gly)
c.1811C>G (p.Ala604Gly)
9g.127815984G=CA1879981839ENGc.1265C= (p.Ala422=)
c.1811C= (p.Ala604=)
9g.127815984G>TCA374971970ENGc.1265C>A (p.Ala422Asp)
c.1811C>A (p.Ala604Asp)
 gnomAD v4
9g.127815985C>ACA374971974ENGc.1264G>T (p.Ala422Ser)
c.1810G>T (p.Ala604Ser)
 gnomAD v4
9g.127815985C>GCA374971971ENGc.1264G>C (p.Ala422Pro)
c.1810G>C (p.Ala604Pro)
9g.127815985C>TCA374971973ENGc.1264G>A (p.Ala422Thr)
c.1810G>A (p.Ala604Thr)
 gnomAD v4
9g.127815986C>ACA467474405ENGc.1263G>T (p.Gly421=)
c.1809G>T (p.Gly603=)
9g.127815986C>GCA467474408ENGc.1263G>C (p.Gly421=)
c.1809G>C (p.Gly603=)
9g.127815986C>TCA467474407ENGc.1263G>A (p.Gly421=)
c.1809G>A (p.Gly603=)
 gnomAD v4
9g.127815987C>ACA374971975ENGc.1262G>T (p.Gly421Val)
c.1808G>T (p.Gly603Val)
 gnomAD v4
9g.127815987C=CA1879981843ENGc.1262G= (p.Gly421=)
c.1808G= (p.Gly603=)
9g.127815987C>GCA374971977ENGc.1262G>C (p.Gly421Ala)
c.1808G>C (p.Gly603Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.127815987C>TCA374971978ENGc.1262G>A (p.Gly421Glu)
c.1808G>A (p.Gly603Glu)
9g.127815988C>ACA374971980ENGc.1261G>T (p.Gly421Trp)
c.1807G>T (p.Gly603Trp)
9g.127815988C=CA1879981849ENGc.1261G= (p.Gly421=)
c.1807G= (p.Gly603=)
9g.127815988C>GCA374971981ENGc.1261G>C (p.Gly421Arg)
c.1807G>C (p.Gly603Arg)
9g.127815988C>TCA374971982ENGc.1261G>A (p.Gly421Arg)
c.1807G>A (p.Gly603Arg)
 ClinVar dbSNP gnomAD v4
9g.127815989G>ACA5252624ENGc.1260C>T (p.Ile420=)
c.1806C>T (p.Ile602=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127815989G>CCA374971983ENGc.1260C>G (p.Ile420Met)
c.1806C>G (p.Ile602Met)
9g.127815989G=CA1879981856ENGc.1260C= (p.Ile420=)
c.1806C= (p.Ile602=)
9g.127815989G>TCA467474415ENGc.1260C>A (p.Ile420=)
c.1806C>A (p.Ile602=)
 gnomAD v4
9g.127815990A>CCA374971984ENGc.1259T>G (p.Ile420Ser)
c.1805T>G (p.Ile602Ser)
9g.127815990A>GCA374971986ENGc.1259T>C (p.Ile420Thr)
c.1805T>C (p.Ile602Thr)
9g.127815990A>TCA374971989ENGc.1259T>A (p.Ile420Asn)
c.1805T>A (p.Ile602Asn)
9g.127815990_127815991delinsATCA1879981861ENGc.1258_1259delinsAT (p.Ile420=)
c.1804_1805delinsAT (p.Ile602=)
9g.127815991delCA645294055ENGc.1258del (p.Ile420SerfsTer?)
c.1804del (p.Ile602SerfsTer?)
 ClinVar dbSNP
9g.127815991T>ACA374971991ENGc.1258A>T (p.Ile420Phe)
c.1804A>T (p.Ile602Phe)
9g.127815991T>CCA374971992ENGc.1258A>G (p.Ile420Val)
c.1804A>G (p.Ile602Val)
 gnomAD v4
9g.127815991T>GCA374971990ENGc.1258A>C (p.Ile420Leu)
c.1804A>C (p.Ile602Leu)
9g.127815992G>ACA467474420ENGc.1257C>T (p.Leu419=)
c.1803C>T (p.Leu601=)
9g.127815992G>CCA467474421ENGc.1257C>G (p.Leu419=)
c.1803C>G (p.Leu601=)
9g.127815992G>TCA467474422ENGc.1257C>A (p.Leu419=)
c.1803C>A (p.Leu601=)
9g.127815993A>CCA374971995ENGc.1256T>G (p.Leu419Arg)
c.1802T>G (p.Leu601Arg)
9g.127815993A>GCA374971996ENGc.1256T>C (p.Leu419Pro)
c.1802T>C (p.Leu601Pro)
9g.127815993A>TCA374971997ENGc.1256T>A (p.Leu419His)
c.1802T>A (p.Leu601His)
9g.127815994G>ACA374972000ENGc.1255C>T (p.Leu419Phe)
c.1801C>T (p.Leu601Phe)
9g.127815994G>CCA374972002ENGc.1255C>G (p.Leu419Val)
c.1801C>G (p.Leu601Val)
9g.127815994G>TCA374972004ENGc.1255C>A (p.Leu419Ile)
c.1801C>A (p.Leu601Ile)
9g.127815995G>ACA467474431ENGc.1254C>T (p.Phe418=)
c.1800C>T (p.Phe600=)
 dbSNP gnomAD v4
9g.127815995G>CCA374972016ENGc.1254C>G (p.Phe418Leu)
c.1800C>G (p.Phe600Leu)
9g.127815995G=CA1879981867ENGc.1254C= (p.Phe418=)
c.1800C= (p.Phe600=)
9g.127815995G>TCA374972013ENGc.1254C>A (p.Phe418Leu)
c.1800C>A (p.Phe600Leu)
 gnomAD v4
9g.127815996A>CCA374972017ENGc.1253T>G (p.Phe418Cys)
c.1799T>G (p.Phe600Cys)
9g.127815996A>GCA374972019ENGc.1253T>C (p.Phe418Ser)
c.1799T>C (p.Phe600Ser)
9g.127815996A>TCA374972020ENGc.1253T>A (p.Phe418Tyr)
c.1799T>A (p.Phe600Tyr)
9g.127815997A>CCA374972022ENGc.1252T>G (p.Phe418Val)
c.1798T>G (p.Phe600Val)
9g.127815997A>GCA374972025ENGc.1252T>C (p.Phe418Leu)
c.1798T>C (p.Phe600Leu)
9g.127815997A>TCA374972027ENGc.1252T>A (p.Phe418Ile)
c.1798T>A (p.Phe600Ile)
9g.127815998G>ACA467474440ENGc.1251C>T (p.Ala417=)
c.1797C>T (p.Ala599=)
9g.127815998G>CCA467474442ENGc.1251C>G (p.Ala417=)
c.1797C>G (p.Ala599=)
9g.127815998G>TCA467474441ENGc.1251C>A (p.Ala417=)
c.1797C>A (p.Ala599=)
9g.127815999G>ACA374972029ENGc.1250C>T (p.Ala417Val)
c.1796C>T (p.Ala599Val)
 COSMIC COSMIC
9g.127815999G>CCA374972045ENGc.1250C>G (p.Ala417Gly)
c.1796C>G (p.Ala599Gly)
 gnomAD v4
9g.127815999G>TCA374972032ENGc.1250C>A (p.Ala417Asp)
c.1796C>A (p.Ala599Asp)
 gnomAD v4
9g.127816000C>ACA374972051ENGc.1249G>T (p.Ala417Ser)
c.1795G>T (p.Ala599Ser)
 gnomAD v4
9g.127816000C>GCA374972053ENGc.1249G>C (p.Ala417Pro)
c.1795G>C (p.Ala599Pro)
9g.127816000C>TCA374972056ENGc.1249G>A (p.Ala417Thr)
c.1795G>A (p.Ala599Thr)
 COSMIC COSMIC
9g.127816001A=CA1879981873ENGc.1248T= (p.Gly416=)
c.1794T= (p.Gly598=)
9g.127816001A>CCA467474451ENGc.1248T>G (p.Gly416=)
c.1794T>G (p.Gly598=)
9g.127816001A>GCA321271ENGc.1248T>C (p.Gly416=)
c.1794T>C (p.Gly598=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127816001A>TCA467474453ENGc.1248T>A (p.Gly416=)
c.1794T>A (p.Gly598=)
9g.127816002C>ACA374972078ENGc.1247G>T (p.Gly416Val)
c.1793G>T (p.Gly598Val)
9g.127816002C=CA1879981878ENGc.1247G= (p.Gly416=)
c.1793G= (p.Gly598=)
9g.127816002C>GCA5252625ENGc.1247G>C (p.Gly416Ala)
c.1793G>C (p.Gly598Ala)
 dbSNP ExAC gnomAD v2
9g.127816002C>TCA374972081ENGc.1247G>A (p.Gly416Asp)
c.1793G>A (p.Gly598Asp)
 gnomAD v4
9g.127816003C>ACA374972085ENGc.1246G>T (p.Gly416Cys)
c.1792G>T (p.Gly598Cys)
 gnomAD v4
9g.127816003C>GCA374972087ENGc.1246G>C (p.Gly416Arg)
c.1792G>C (p.Gly598Arg)
9g.127816003C>TCA374972089ENGc.1246G>A (p.Gly416Ser)
c.1792G>A (p.Gly598Ser)
9g.127816004A=CA1879981882ENGc.1245T= (p.Phe415=)
c.1791T= (p.Phe597=)
9g.127816004A>CCA374972092ENGc.1245T>G (p.Phe415Leu)
c.1791T>G (p.Phe597Leu)
 dbSNP
9g.127816004A>GCA467474460ENGc.1245T>C (p.Phe415=)
c.1791T>C (p.Phe597=)
9g.127816004A>TCA374972095ENGc.1245T>A (p.Phe415Leu)
c.1791T>A (p.Phe597Leu)
9g.127816005A>CCA374972101ENGc.1244T>G (p.Phe415Cys)
c.1790T>G (p.Phe597Cys)
 gnomAD v4
9g.127816005A>GCA374972105ENGc.1244T>C (p.Phe415Ser)
c.1790T>C (p.Phe597Ser)
 COSMIC COSMIC
9g.127816005A>TCA374972103ENGc.1244T>A (p.Phe415Tyr)
c.1790T>A (p.Phe597Tyr)
9g.127816006A>CCA374972107ENGc.1243T>G (p.Phe415Val)
c.1789T>G (p.Phe597Val)
 gnomAD v4
9g.127816006A>GCA374972109ENGc.1243T>C (p.Phe415Leu)
c.1789T>C (p.Phe597Leu)
 gnomAD v4
9g.127816006A>TCA374972112ENGc.1243T>A (p.Phe415Ile)
c.1789T>A (p.Phe597Ile)
9g.127816007G>ACA467474473ENGc.1242C>T (p.Thr414=)
c.1788C>T (p.Thr596=)
9g.127816007G>CCA467474474ENGc.1242C>G (p.Thr414=)
c.1788C>G (p.Thr596=)
9g.127816007G>TCA467474475ENGc.1242C>A (p.Thr414=)
c.1788C>A (p.Thr596=)
9g.127816008G>ACA374972113ENGc.1241C>T (p.Thr414Ile)
c.1787C>T (p.Thr596Ile)
9g.127816008G>CCA374972114ENGc.1241C>G (p.Thr414Ser)
c.1787C>G (p.Thr596Ser)
9g.127816008G>TCA374972115ENGc.1241C>A (p.Thr414Asn)
c.1787C>A (p.Thr596Asn)
9g.127816009T>ACA374972116ENGc.1240A>T (p.Thr414Ser)
c.1786A>T (p.Thr596Ser)
9g.127816009T>CCA374972121ENGc.1240A>G (p.Thr414Ala)
c.1786A>G (p.Thr596Ala)
 ClinVar dbSNP gnomAD v4
9g.127816009T>GCA374972127ENGc.1240A>C (p.Thr414Pro)
c.1786A>C (p.Thr596Pro)
9g.127816009T=CA1879981887ENGc.1240A= (p.Thr414=)
c.1786A= (p.Thr596=)

Number of alleles fetched