Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.169525956C>ACA343124914F5c.5661G>T (p.Glu1887Asp)
c.5676G>T (p.Glu1892Asp)
c.5250G>T (p.Glu1750Asp)
1g.169525956C>GCA343124917F5c.5661G>C (p.Glu1887Asp)
c.5676G>C (p.Glu1892Asp)
c.5250G>C (p.Glu1750Asp)
1g.169525956C>TCA421735123F5c.5661G>A (p.Glu1887=)
c.5676G>A (p.Glu1892=)
c.5250G>A (p.Glu1750=)
1g.169525957T>ACA343124924F5c.5660A>T (p.Glu1887Val)
c.5675A>T (p.Glu1892Val)
c.5249A>T (p.Glu1750Val)
1g.169525957T>CCA343124922F5c.5660A>G (p.Glu1887Gly)
c.5675A>G (p.Glu1892Gly)
c.5249A>G (p.Glu1750Gly)
dbSNP
1g.169525957T>GCA343124920F5c.5660A>C (p.Glu1887Ala)
c.5675A>C (p.Glu1892Ala)
c.5249A>C (p.Glu1750Ala)
dbSNP
1g.169525957T=CA1206133694F5c.5660A= (p.Glu1887=)
c.5675A= (p.Glu1892=)
c.5249A= (p.Glu1750=)
1g.169525958C>ACA343124926F5c.5659G>T (p.Glu1887Ter)
c.5674G>T (p.Glu1892Ter)
c.5248G>T (p.Glu1750Ter)
1g.169525958C>GCA343124928F5c.5659G>C (p.Glu1887Gln)
c.5674G>C (p.Glu1892Gln)
c.5248G>C (p.Glu1750Gln)
1g.169525958C>TCA343124931F5c.5659G>A (p.Glu1887Lys)
c.5674G>A (p.Glu1892Lys)
c.5248G>A (p.Glu1750Lys)
1g.169525959T>ACA421735124F5c.5658A>T (p.Thr1886=)
c.5673A>T (p.Thr1891=)
c.5247A>T (p.Thr1749=)
1g.169525959T>CCA421735125F5c.5658A>G (p.Thr1886=)
c.5673A>G (p.Thr1891=)
c.5247A>G (p.Thr1749=)
1g.169525959T>GCA1233447F5c.5658A>C (p.Thr1886=)
c.5673A>C (p.Thr1891=)
c.5247A>C (p.Thr1749=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.169525959T=CA1206133696F5c.5658A= (p.Thr1886=)
c.5673A= (p.Thr1891=)
c.5247A= (p.Thr1749=)
1g.169525960G>ACA343124937F5c.5657C>T (p.Thr1886Ile)
c.5672C>T (p.Thr1891Ile)
c.5246C>T (p.Thr1749Ile)
gnomAD v4
1g.169525960G>CCA343124939F5c.5657C>G (p.Thr1886Arg)
c.5672C>G (p.Thr1891Arg)
c.5246C>G (p.Thr1749Arg)
1g.169525960G>TCA343124943F5c.5657C>A (p.Thr1886Lys)
c.5672C>A (p.Thr1891Lys)
c.5246C>A (p.Thr1749Lys)
1g.169525961T>ACA343124948F5c.5656A>T (p.Thr1886Ser)
c.5671A>T (p.Thr1891Ser)
c.5245A>T (p.Thr1749Ser)
1g.169525961T>CCA343124955F5c.5656A>G (p.Thr1886Ala)
c.5671A>G (p.Thr1891Ala)
c.5245A>G (p.Thr1749Ala)
gnomAD v4
1g.169525961T>GCA343124959F5c.5656A>C (p.Thr1886Pro)
c.5671A>C (p.Thr1891Pro)
c.5245A>C (p.Thr1749Pro)
dbSNP gnomAD v3 gnomAD v4
1g.169525961T=CA1206133698F5c.5656A= (p.Thr1886=)
c.5671A= (p.Thr1891=)
c.5245A= (p.Thr1749=)
1g.169525962G>ACA421735126F5c.5655C>T (p.Asn1885=)
c.5670C>T (p.Asn1890=)
c.5244C>T (p.Asn1748=)
1g.169525962G>CCA343124962F5c.5655C>G (p.Asn1885Lys)
c.5670C>G (p.Asn1890Lys)
c.5244C>G (p.Asn1748Lys)
1g.169525962G>TCA343124965F5c.5655C>A (p.Asn1885Lys)
c.5670C>A (p.Asn1890Lys)
c.5244C>A (p.Asn1748Lys)
1g.169525963T>ACA343124978F5c.5654A>T (p.Asn1885Ile)
c.5669A>T (p.Asn1890Ile)
c.5243A>T (p.Asn1748Ile)
1g.169525963T>CCA343124975F5c.5654A>G (p.Asn1885Ser)
c.5669A>G (p.Asn1890Ser)
c.5243A>G (p.Asn1748Ser)
1g.169525963T>GCA343124972F5c.5654A>C (p.Asn1885Thr)
c.5669A>C (p.Asn1890Thr)
c.5243A>C (p.Asn1748Thr)
1g.169525964T>ACA343124981F5c.5653A>T (p.Asn1885Tyr)
c.5668A>T (p.Asn1890Tyr)
c.5242A>T (p.Asn1748Tyr)
1g.169525964T>CCA343124984F5c.5653A>G (p.Asn1885Asp)
c.5668A>G (p.Asn1890Asp)
c.5242A>G (p.Asn1748Asp)
1g.169525964T>GCA343124987F5c.5653A>C (p.Asn1885His)
c.5668A>C (p.Asn1890His)
c.5242A>C (p.Asn1748His)
1g.169525965T>ACA421735127F5c.5652A>T (p.Leu1884=)
c.5667A>T (p.Leu1889=)
c.5241A>T (p.Leu1747=)
1g.169525965T>CCA421735128F5c.5652A>G (p.Leu1884=)
c.5667A>G (p.Leu1889=)
c.5241A>G (p.Leu1747=)
1g.169525965T>GCA421735129F5c.5652A>C (p.Leu1884=)
c.5667A>C (p.Leu1889=)
c.5241A>C (p.Leu1747=)
ClinVar
1g.169525966A>CCA343124990F5c.5651T>G (p.Leu1884Arg)
c.5666T>G (p.Leu1889Arg)
c.5240T>G (p.Leu1747Arg)
1g.169525966A>GCA343124994F5c.5651T>C (p.Leu1884Pro)
c.5666T>C (p.Leu1889Pro)
c.5240T>C (p.Leu1747Pro)
gnomAD v4
1g.169525966A>TCA343124996F5c.5651T>A (p.Leu1884Gln)
c.5666T>A (p.Leu1889Gln)
c.5240T>A (p.Leu1747Gln)
1g.169525967G>ACA1233448F5c.5650C>T (p.Leu1884=)
c.5665C>T (p.Leu1889=)
c.5239C>T (p.Leu1747=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169525967G>CCA343125003F5c.5650C>G (p.Leu1884Val)
c.5665C>G (p.Leu1889Val)
c.5239C>G (p.Leu1747Val)
1g.169525967G=CA1143808031F5c.5650C= (p.Leu1884=)
c.5665C= (p.Leu1889=)
c.5239C= (p.Leu1747=)
1g.169525967G>TCA343125005F5c.5650C>A (p.Leu1884Ile)
c.5665C>A (p.Leu1889Ile)
c.5239C>A (p.Leu1747Ile)
1g.169525968G>ACA421735130F5c.5649C>T (p.Leu1883=)
c.5664C>T (p.Leu1888=)
c.5238C>T (p.Leu1746=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.169525968G>CCA421735131F5c.5649C>G (p.Leu1883=)
c.5664C>G (p.Leu1888=)
c.5238C>G (p.Leu1746=)
1g.169525968G=CA1206133700F5c.5649C= (p.Leu1883=)
c.5664C= (p.Leu1888=)
c.5238C= (p.Leu1746=)
1g.169525968G>TCA421735132F5c.5649C>A (p.Leu1883=)
c.5664C>A (p.Leu1888=)
c.5238C>A (p.Leu1746=)
1g.169525969A>CCA343125009F5c.5648T>G (p.Leu1883Arg)
c.5663T>G (p.Leu1888Arg)
c.5237T>G (p.Leu1746Arg)
1g.169525969A>GCA343125012F5c.5648T>C (p.Leu1883Pro)
c.5663T>C (p.Leu1888Pro)
c.5237T>C (p.Leu1746Pro)
1g.169525969A>TCA343125015F5c.5648T>A (p.Leu1883His)
c.5663T>A (p.Leu1888His)
c.5237T>A (p.Leu1746His)
1g.169525970G>ACA343125024F5c.5647C>T (p.Leu1883Phe)
c.5662C>T (p.Leu1888Phe)
c.5236C>T (p.Leu1746Phe)
1g.169525970G>CCA343125021F5c.5647C>G (p.Leu1883Val)
c.5662C>G (p.Leu1888Val)
c.5236C>G (p.Leu1746Val)
1g.169525970G>TCA343125018F5c.5647C>A (p.Leu1883Ile)
c.5662C>A (p.Leu1888Ile)
c.5236C>A (p.Leu1746Ile)
1g.169525971C>ACA343125027F5c.5646G>T (p.Trp1882Cys)
c.5661G>T (p.Trp1887Cys)
c.5235G>T (p.Trp1745Cys)
1g.169525971C=CA1206133703F5c.5646G= (p.Trp1882=)
c.5661G= (p.Trp1887=)
c.5235G= (p.Trp1745=)
1g.169525971C>GCA343125030F5c.5646G>C (p.Trp1882Cys)
c.5661G>C (p.Trp1887Cys)
c.5235G>C (p.Trp1745Cys)
COSMIC
1g.169525971C>TCA343125033F5c.5646G>A (p.Trp1882Ter)
c.5661G>A (p.Trp1887Ter)
c.5235G>A (p.Trp1745Ter)
ClinVar dbSNP gnomAD v4
1g.169525972C>ACA343125040F5c.5645G>T (p.Trp1882Leu)
c.5660G>T (p.Trp1887Leu)
c.5234G>T (p.Trp1745Leu)
1g.169525972C>GCA343125041F5c.5645G>C (p.Trp1882Ser)
c.5660G>C (p.Trp1887Ser)
c.5234G>C (p.Trp1745Ser)
1g.169525972C>TCA343125043F5c.5645G>A (p.Trp1882Ter)
c.5660G>A (p.Trp1887Ter)
c.5234G>A (p.Trp1745Ter)
ClinVar gnomAD v4
1g.169525973A>CCA343125046F5c.5644T>G (p.Trp1882Gly)
c.5659T>G (p.Trp1887Gly)
c.5233T>G (p.Trp1745Gly)
1g.169525973A>GCA343125047F5c.5644T>C (p.Trp1882Arg)
c.5659T>C (p.Trp1887Arg)
c.5233T>C (p.Trp1745Arg)
1g.169525973A>TCA343125048F5c.5644T>A (p.Trp1882Arg)
c.5659T>A (p.Trp1887Arg)
c.5233T>A (p.Trp1745Arg)
1g.169525974C>ACA343125051F5c.5643G>T (p.Trp1881Cys)
c.5658G>T (p.Trp1886Cys)
c.5232G>T (p.Trp1744Cys)
1g.169525974C=CA1206133705F5c.5643G= (p.Trp1881=)
c.5658G= (p.Trp1886=)
c.5232G= (p.Trp1744=)
1g.169525974C>GCA343125054F5c.5643G>C (p.Trp1881Cys)
c.5658G>C (p.Trp1886Cys)
c.5232G>C (p.Trp1744Cys)
1g.169525974C>TCA32431857F5c.5643G>A (p.Trp1881Ter)
c.5658G>A (p.Trp1886Ter)
c.5232G>A (p.Trp1744Ter)
dbSNP gnomAD v3 gnomAD v4 COSMIC
1g.169525975C>ACA343125085F5c.5642G>T (p.Trp1881Leu)
c.5657G>T (p.Trp1886Leu)
c.5231G>T (p.Trp1744Leu)
1g.169525975C>GCA343125078F5c.5642G>C (p.Trp1881Ser)
c.5657G>C (p.Trp1886Ser)
c.5231G>C (p.Trp1744Ser)
1g.169525975C>TCA343125075F5c.5642G>A (p.Trp1881Ter)
c.5657G>A (p.Trp1886Ter)
c.5231G>A (p.Trp1744Ter)
1g.169525976A=CA1206133706F5c.5641T= (p.Trp1881=)
c.5656T= (p.Trp1886=)
c.5230T= (p.Trp1744=)
1g.169525976A>CCA343125089F5c.5641T>G (p.Trp1881Gly)
c.5656T>G (p.Trp1886Gly)
c.5230T>G (p.Trp1744Gly)
1g.169525976A>GCA343125096F5c.5641T>C (p.Trp1881Arg)
c.5656T>C (p.Trp1886Arg)
c.5230T>C (p.Trp1744Arg)
dbSNP gnomAD v4
1g.169525976A>TCA343125092F5c.5641T>A (p.Trp1881Arg)
c.5656T>A (p.Trp1886Arg)
c.5230T>A (p.Trp1744Arg)
1g.169525977G>ACA421735135F5c.5640C>T (p.Gly1880=)
c.5655C>T (p.Gly1885=)
c.5229C>T (p.Gly1743=)
1g.169525977G>CCA421735134F5c.5640C>G (p.Gly1880=)
c.5655C>G (p.Gly1885=)
c.5229C>G (p.Gly1743=)
1g.169525977G>TCA421735133F5c.5640C>A (p.Gly1880=)
c.5655C>A (p.Gly1885=)
c.5229C>A (p.Gly1743=)
1g.169525978C>ACA343125101F5c.5639G>T (p.Gly1880Val)
c.5654G>T (p.Gly1885Val)
c.5228G>T (p.Gly1743Val)
gnomAD v4
1g.169525978C=CA1206133708F5c.5639G= (p.Gly1880=)
c.5654G= (p.Gly1885=)
c.5228G= (p.Gly1743=)
1g.169525978C>GCA343125106F5c.5639G>C (p.Gly1880Ala)
c.5654G>C (p.Gly1885Ala)
c.5228G>C (p.Gly1743Ala)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.169525978C>TCA343125105F5c.5639G>A (p.Gly1880Asp)
c.5654G>A (p.Gly1885Asp)
c.5228G>A (p.Gly1743Asp)
1g.169525979C>ACA343125113F5c.5638G>T (p.Gly1880Cys)
c.5653G>T (p.Gly1885Cys)
c.5227G>T (p.Gly1743Cys)
1g.169525979C>GCA343125115F5c.5638G>C (p.Gly1880Arg)
c.5653G>C (p.Gly1885Arg)
c.5227G>C (p.Gly1743Arg)
1g.169525979C>TCA343125122F5c.5638G>A (p.Gly1880Ser)
c.5653G>A (p.Gly1885Ser)
c.5227G>A (p.Gly1743Ser)
1g.169525980A>CCA421735136F5c.5637T>G (p.Pro1879=)
c.5652T>G (p.Pro1884=)
c.5226T>G (p.Pro1742=)
1g.169525980A>GCA421735138F5c.5637T>C (p.Pro1879=)
c.5652T>C (p.Pro1884=)
c.5226T>C (p.Pro1742=)
1g.169525980A>TCA421735137F5c.5637T>A (p.Pro1879=)
c.5652T>A (p.Pro1884=)
c.5226T>A (p.Pro1742=)
1g.169525981G>ACA343125123F5c.5636C>T (p.Pro1879Leu)
c.5651C>T (p.Pro1884Leu)
c.5225C>T (p.Pro1742Leu)
1g.169525981G>CCA343125124F5c.5636C>G (p.Pro1879Arg)
c.5651C>G (p.Pro1884Arg)
c.5225C>G (p.Pro1742Arg)
1g.169525981G>TCA343125125F5c.5636C>A (p.Pro1879His)
c.5651C>A (p.Pro1884His)
c.5225C>A (p.Pro1742His)
1g.169525982G>ACA343125128F5c.5635C>T (p.Pro1879Ser)
c.5650C>T (p.Pro1884Ser)
c.5224C>T (p.Pro1742Ser)
dbSNP
1g.169525982G>CCA343125131F5c.5635C>G (p.Pro1879Ala)
c.5650C>G (p.Pro1884Ala)
c.5224C>G (p.Pro1742Ala)
1g.169525982G=CA1206133710F5c.5635C= (p.Pro1879=)
c.5650C= (p.Pro1884=)
c.5224C= (p.Pro1742=)
1g.169525982G>TCA343125134F5c.5635C>A (p.Pro1879Thr)
c.5650C>A (p.Pro1884Thr)
c.5224C>A (p.Pro1742Thr)
1g.169525983T>ACA343125138F5c.5634A>T (p.Lys1878Asn)
c.5649A>T (p.Lys1883Asn)
c.5223A>T (p.Lys1741Asn)
1g.169525983T>CCA421735139F5c.5634A>G (p.Lys1878=)
c.5649A>G (p.Lys1883=)
c.5223A>G (p.Lys1741=)
1g.169525983T>GCA343125139F5c.5634A>C (p.Lys1878Asn)
c.5649A>C (p.Lys1883Asn)
c.5223A>C (p.Lys1741Asn)
1g.169525984T>ACA343125140F5c.5633A>T (p.Lys1878Ile)
c.5648A>T (p.Lys1883Ile)
c.5222A>T (p.Lys1741Ile)
1g.169525984T>CCA343125141F5c.5633A>G (p.Lys1878Arg)
c.5648A>G (p.Lys1883Arg)
c.5222A>G (p.Lys1741Arg)
dbSNP gnomAD v3 gnomAD v4
1g.169525984T>GCA343125142F5c.5633A>C (p.Lys1878Thr)
c.5648A>C (p.Lys1883Thr)
c.5222A>C (p.Lys1741Thr)
1g.169525984T=CA1206133711F5c.5633A= (p.Lys1878=)
c.5648A= (p.Lys1883=)
c.5222A= (p.Lys1741=)
1g.169525985T>ACA343125150F5c.5632A>T (p.Lys1878Ter)
c.5647A>T (p.Lys1883Ter)
c.5221A>T (p.Lys1741Ter)
1g.169525985T>CCA343125148F5c.5632A>G (p.Lys1878Glu)
c.5647A>G (p.Lys1883Glu)
c.5221A>G (p.Lys1741Glu)
1g.169525985T>GCA343125145F5c.5632A>C (p.Lys1878Gln)
c.5647A>C (p.Lys1883Gln)
c.5221A>C (p.Lys1741Gln)
1g.169525986T>ACA421735140F5c.5631A>T (p.Ser1877=)
c.5646A>T (p.Ser1882=)
c.5220A>T (p.Ser1740=)
COSMIC
1g.169525986T>CCA421735141F5c.5631A>G (p.Ser1877=)
c.5646A>G (p.Ser1882=)
c.5220A>G (p.Ser1740=)
1g.169525986T>GCA421735142F5c.5631A>C (p.Ser1877=)
c.5646A>C (p.Ser1882=)
c.5220A>C (p.Ser1740=)
1g.169525987G>ACA343125153F5c.5630C>T (p.Ser1877Leu)
c.5645C>T (p.Ser1882Leu)
c.5219C>T (p.Ser1740Leu)
1g.169525987G>CCA343125154F5c.5630C>G (p.Ser1877Ter)
c.5645C>G (p.Ser1882Ter)
c.5219C>G (p.Ser1740Ter)
1g.169525987G>TCA343125155F5c.5630C>A (p.Ser1877Ter)
c.5645C>A (p.Ser1882Ter)
c.5219C>A (p.Ser1740Ter)
gnomAD v4
1g.169525988A>CCA343125156F5c.5629T>G (p.Ser1877Ala)
c.5644T>G (p.Ser1882Ala)
c.5218T>G (p.Ser1740Ala)
1g.169525988A>GCA343125158F5c.5629T>C (p.Ser1877Pro)
c.5644T>C (p.Ser1882Pro)
c.5218T>C (p.Ser1740Pro)
1g.169525988A>TCA343125160F5c.5629T>A (p.Ser1877Thr)
c.5644T>A (p.Ser1882Thr)
c.5218T>A (p.Ser1740Thr)
1g.169525989T>ACA421735143F5c.5628A>T (p.Ala1876=)
c.5643A>T (p.Ala1881=)
c.5217A>T (p.Ala1739=)
1g.169525989T>CCA421735144F5c.5628A>G (p.Ala1876=)
c.5643A>G (p.Ala1881=)
c.5217A>G (p.Ala1739=)
ClinVar
1g.169525989T>GCA421735145F5c.5628A>C (p.Ala1876=)
c.5643A>C (p.Ala1881=)
c.5217A>C (p.Ala1739=)
1g.169525990G>ACA1233449F5c.5627C>T (p.Ala1876Val)
c.5642C>T (p.Ala1881Val)
c.5216C>T (p.Ala1739Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169525990G>CCA343125172F5c.5627C>G (p.Ala1876Gly)
c.5642C>G (p.Ala1881Gly)
c.5216C>G (p.Ala1739Gly)
1g.169525990G=CA1206133712F5c.5627C= (p.Ala1876=)
c.5642C= (p.Ala1881=)
c.5216C= (p.Ala1739=)
1g.169525990G>TCA343125174F5c.5627C>A (p.Ala1876Glu)
c.5642C>A (p.Ala1881Glu)
c.5216C>A (p.Ala1739Glu)
gnomAD v4
1g.169525991C>ACA343125179F5c.5626G>T (p.Ala1876Ser)
c.5641G>T (p.Ala1881Ser)
c.5215G>T (p.Ala1739Ser)
COSMIC
1g.169525991C=CA1206133714F5c.5626G= (p.Ala1876=)
c.5641G= (p.Ala1881=)
c.5215G= (p.Ala1739=)
1g.169525991C>GCA343125182F5c.5626G>C (p.Ala1876Pro)
c.5641G>C (p.Ala1881Pro)
c.5215G>C (p.Ala1739Pro)
dbSNP gnomAD v4
1g.169525991C>TCA1233450F5c.5626G>A (p.Ala1876Thr)
c.5641G>A (p.Ala1881Thr)
c.5215G>A (p.Ala1739Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.169525992C>ACA343125192F5c.5625G>T (p.Lys1875Asn)
c.5640G>T (p.Lys1880Asn)
c.5214G>T (p.Lys1738Asn)
1g.169525992C>GCA343125197F5c.5625G>C (p.Lys1875Asn)
c.5640G>C (p.Lys1880Asn)
c.5214G>C (p.Lys1738Asn)
1g.169525992C>TCA421735146F5c.5625G>A (p.Lys1875=)
c.5640G>A (p.Lys1880=)
c.5214G>A (p.Lys1738=)
COSMIC
1g.169525992_169525997delinsCTTCATCA1206133715F5c.5620_5625delinsATGAAG (p.Met1874=)
c.5635_5640delinsATGAAG (p.Met1879=)
c.5209_5214delinsATGAAG (p.Met1737=)
1g.169525993T>ACA343125219F5c.5624A>T (p.Lys1875Met)
c.5639A>T (p.Lys1880Met)
c.5213A>T (p.Lys1738Met)
1g.169525993T>CCA343125224F5c.5624A>G (p.Lys1875Arg)
c.5639A>G (p.Lys1880Arg)
c.5213A>G (p.Lys1738Arg)
1g.169525993T>GCA343125216F5c.5624A>C (p.Lys1875Thr)
c.5639A>C (p.Lys1880Thr)
c.5213A>C (p.Lys1738Thr)
1g.169525997_169526001delCA1008973855F5c.5620_5624del (p.Met1874GlyfsTer?)
c.5635_5639del (p.Met1879GlyfsTer?)
c.5209_5213del (p.Met1737GlyfsTer?)
dbSNP gnomAD v3 gnomAD v4
1g.169525994T>ACA343125229F5c.5623A>T (p.Lys1875Ter)
c.5638A>T (p.Lys1880Ter)
c.5212A>T (p.Lys1738Ter)
1g.169525994T>CCA1233451F5c.5623A>G (p.Lys1875Glu)
c.5638A>G (p.Lys1880Glu)
c.5212A>G (p.Lys1738Glu)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.169525994T>GCA343125233F5c.5623A>C (p.Lys1875Gln)
c.5638A>C (p.Lys1880Gln)
c.5212A>C (p.Lys1738Gln)
1g.169525994T=CA1206133718F5c.5623A= (p.Lys1875=)
c.5638A= (p.Lys1880=)
c.5212A= (p.Lys1738=)
1g.169525995C>ACA343125234F5c.5622G>T (p.Met1874Ile)
c.5637G>T (p.Met1879Ile)
c.5211G>T (p.Met1737Ile)
1g.169525995C>GCA343125235F5c.5622G>C (p.Met1874Ile)
c.5637G>C (p.Met1879Ile)
c.5211G>C (p.Met1737Ile)
1g.169525995C>TCA343125237F5c.5622G>A (p.Met1874Ile)
c.5637G>A (p.Met1879Ile)
c.5211G>A (p.Met1737Ile)
1g.169525996A=CA1144172839F5c.5621T= (p.Met1874=)
c.5636T= (p.Met1879=)
c.5210T= (p.Met1737=)
1g.169525996A>CCA343125245F5c.5621T>G (p.Met1874Arg)
c.5636T>G (p.Met1879Arg)
c.5210T>G (p.Met1737Arg)
1g.169525996A>GCA1233452F5c.5621T>C (p.Met1874Thr)
c.5636T>C (p.Met1879Thr)
c.5210T>C (p.Met1737Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169525996A>TCA343125241F5c.5621T>A (p.Met1874Lys)
c.5636T>A (p.Met1879Lys)
c.5210T>A (p.Met1737Lys)
gnomAD v4
1g.169525997T>ACA343125250F5c.5620A>T (p.Met1874Leu)
c.5635A>T (p.Met1879Leu)
c.5209A>T (p.Met1737Leu)
1g.169525997T>CCA343125257F5c.5620A>G (p.Met1874Val)
c.5635A>G (p.Met1879Val)
c.5209A>G (p.Met1737Val)
gnomAD v4
1g.169525997T>GCA343125261F5c.5620A>C (p.Met1874Leu)
c.5635A>C (p.Met1879Leu)
c.5209A>C (p.Met1737Leu)
1g.169525998T>ACA343125265F5c.5619A>T (p.Glu1873Asp)
c.5634A>T (p.Glu1878Asp)
c.5208A>T (p.Glu1736Asp)
1g.169525998T>CCA421735147F5c.5619A>G (p.Glu1873=)
c.5634A>G (p.Glu1878=)
c.5208A>G (p.Glu1736=)
1g.169525998T>GCA343125267F5c.5619A>C (p.Glu1873Asp)
c.5634A>C (p.Glu1878Asp)
c.5208A>C (p.Glu1736Asp)
1g.169525999T>ACA343125272F5c.5618A>T (p.Glu1873Val)
c.5633A>T (p.Glu1878Val)
c.5207A>T (p.Glu1736Val)
1g.169525999T>CCA343125279F5c.5618A>G (p.Glu1873Gly)
c.5633A>G (p.Glu1878Gly)
c.5207A>G (p.Glu1736Gly)
1g.169525999T>GCA343125276F5c.5618A>C (p.Glu1873Ala)
c.5633A>C (p.Glu1878Ala)
c.5207A>C (p.Glu1736Ala)
1g.169526000C>ACA343125284F5c.5617G>T (p.Glu1873Ter)
c.5632G>T (p.Glu1878Ter)
c.5206G>T (p.Glu1736Ter)
1g.169526000C>GCA343125288F5c.5617G>C (p.Glu1873Gln)
c.5632G>C (p.Glu1878Gln)
c.5206G>C (p.Glu1736Gln)
1g.169526000C>TCA343125289F5c.5617G>A (p.Glu1873Lys)
c.5632G>A (p.Glu1878Lys)
c.5206G>A (p.Glu1736Lys)
gnomAD v4
1g.169526001A=CA1206133722F5c.5616T= (p.Leu1872=)
c.5631T= (p.Leu1877=)
c.5205T= (p.Leu1735=)
1g.169526001A>CCA421735149F5c.5616T>G (p.Leu1872=)
c.5631T>G (p.Leu1877=)
c.5205T>G (p.Leu1735=)
1g.169526001A>GCA1233453F5c.5616T>C (p.Leu1872=)
c.5631T>C (p.Leu1877=)
c.5205T>C (p.Leu1735=)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.169526001A>TCA421735150F5c.5616T>A (p.Leu1872=)
c.5631T>A (p.Leu1877=)
c.5205T>A (p.Leu1735=)
1g.169526002A>CCA343125290F5c.5615T>G (p.Leu1872Arg)
c.5630T>G (p.Leu1877Arg)
c.5204T>G (p.Leu1735Arg)
1g.169526002A>GCA343125294F5c.5615T>C (p.Leu1872Pro)
c.5630T>C (p.Leu1877Pro)
c.5204T>C (p.Leu1735Pro)
1g.169526002A>TCA343125295F5c.5615T>A (p.Leu1872His)
c.5630T>A (p.Leu1877His)
c.5204T>A (p.Leu1735His)
1g.169526003G>ACA343125300F5c.5614C>T (p.Leu1872Phe)
c.5629C>T (p.Leu1877Phe)
c.5203C>T (p.Leu1735Phe)
1g.169526003G>CCA343125303F5c.5614C>G (p.Leu1872Val)
c.5629C>G (p.Leu1877Val)
c.5203C>G (p.Leu1735Val)
gnomAD v4
1g.169526003G>TCA343125306F5c.5614C>A (p.Leu1872Ile)
c.5629C>A (p.Leu1877Ile)
c.5203C>A (p.Leu1735Ile)
1g.169526004A>CCA421735151F5c.5613T>G (p.Thr1871=)
c.5628T>G (p.Thr1876=)
c.5202T>G (p.Thr1734=)
gnomAD v4
1g.169526004A>GCA421735152F5c.5613T>C (p.Thr1871=)
c.5628T>C (p.Thr1876=)
c.5202T>C (p.Thr1734=)
gnomAD v4
1g.169526004A>TCA421735153F5c.5613T>A (p.Thr1871=)
c.5628T>A (p.Thr1876=)
c.5202T>A (p.Thr1734=)
1g.169526005G>ACA343125313F5c.5612C>T (p.Thr1871Ile)
c.5627C>T (p.Thr1876Ile)
c.5201C>T (p.Thr1734Ile)
dbSNP gnomAD v3 gnomAD v4
1g.169526005G>CCA343125318F5c.5612C>G (p.Thr1871Ser)
c.5627C>G (p.Thr1876Ser)
c.5201C>G (p.Thr1734Ser)
1g.169526005G=CA1206133724F5c.5612C= (p.Thr1871=)
c.5627C= (p.Thr1876=)
c.5201C= (p.Thr1734=)
1g.169526005G>TCA343125315F5c.5612C>A (p.Thr1871Asn)
c.5627C>A (p.Thr1876Asn)
c.5201C>A (p.Thr1734Asn)
1g.169526006T>ACA343125324F5c.5611A>T (p.Thr1871Ser)
c.5626A>T (p.Thr1876Ser)
c.5200A>T (p.Thr1734Ser)
1g.169526006T>CCA343125332F5c.5611A>G (p.Thr1871Ala)
c.5626A>G (p.Thr1876Ala)
c.5200A>G (p.Thr1734Ala)
1g.169526006T>GCA343125328F5c.5611A>C (p.Thr1871Pro)
c.5626A>C (p.Thr1876Pro)
c.5200A>C (p.Thr1734Pro)
1g.169526009dupCA890921536F5c.5611dup (p.Thr1871AsnfsTer3)
c.5626dup (p.Thr1876AsnfsTer3)
c.5200dup (p.Thr1734AsnfsTer3)
dbSNP
1g.169526007T>ACA343125333F5c.5610A>T (p.Lys1870Asn)
c.5625A>T (p.Lys1875Asn)
c.5199A>T (p.Lys1733Asn)
1g.169526007T>CCA421735154F5c.5610A>G (p.Lys1870=)
c.5625A>G (p.Lys1875=)
c.5199A>G (p.Lys1733=)
dbSNP gnomAD v3 gnomAD v4
1g.169526007T>GCA343125334F5c.5610A>C (p.Lys1870Asn)
c.5625A>C (p.Lys1875Asn)
c.5199A>C (p.Lys1733Asn)
1g.169526007T=CA1206133725F5c.5610A= (p.Lys1870=)
c.5625A= (p.Lys1875=)
c.5199A= (p.Lys1733=)
1g.169526008T>ACA343125335F5c.5609A>T (p.Lys1870Ile)
c.5624A>T (p.Lys1875Ile)
c.5198A>T (p.Lys1733Ile)
1g.169526008T>CCA343125338F5c.5609A>G (p.Lys1870Arg)
c.5624A>G (p.Lys1875Arg)
c.5198A>G (p.Lys1733Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.169526008T>GCA343125339F5c.5609A>C (p.Lys1870Thr)
c.5624A>C (p.Lys1875Thr)
c.5198A>C (p.Lys1733Thr)
1g.169526008T=CA1206133727F5c.5609A= (p.Lys1870=)
c.5624A= (p.Lys1875=)
c.5198A= (p.Lys1733=)
1g.169526009T>ACA343125344F5c.5608A>T (p.Lys1870Ter)
c.5623A>T (p.Lys1875Ter)
c.5197A>T (p.Lys1733Ter)
1g.169526009T>CCA343125348F5c.5608A>G (p.Lys1870Glu)
c.5623A>G (p.Lys1875Glu)
c.5197A>G (p.Lys1733Glu)
gnomAD v4
1g.169526009T>GCA343125351F5c.5608A>C (p.Lys1870Gln)
c.5623A>C (p.Lys1875Gln)
c.5197A>C (p.Lys1733Gln)
1g.169526010A>CCA343125356F5c.5607T>G (p.Phe1869Leu)
c.5622T>G (p.Phe1874Leu)
c.5196T>G (p.Phe1732Leu)
1g.169526010A>GCA421735155F5c.5607T>C (p.Phe1869=)
c.5622T>C (p.Phe1874=)
c.5196T>C (p.Phe1732=)
1g.169526010A>TCA343125360F5c.5607T>A (p.Phe1869Leu)
c.5622T>A (p.Phe1874Leu)
c.5196T>A (p.Phe1732Leu)
1g.169526011A=CA1206133729F5c.5606T= (p.Phe1869=)
c.5621T= (p.Phe1874=)
c.5195T= (p.Phe1732=)
1g.169526011A>CCA343125363F5c.5606T>G (p.Phe1869Cys)
c.5621T>G (p.Phe1874Cys)
c.5195T>G (p.Phe1732Cys)
ClinVar dbSNP gnomAD v2 gnomAD v4
1g.169526011A>GCA343125364F5c.5606T>C (p.Phe1869Ser)
c.5621T>C (p.Phe1874Ser)
c.5195T>C (p.Phe1732Ser)
1g.169526011A>TCA343125365F5c.5606T>A (p.Phe1869Tyr)
c.5621T>A (p.Phe1874Tyr)
c.5195T>A (p.Phe1732Tyr)
1g.169526012A>CCA343125368F5c.5605T>G (p.Phe1869Val)
c.5620T>G (p.Phe1874Val)
c.5194T>G (p.Phe1732Val)
1g.169526012A>GCA343125376F5c.5605T>C (p.Phe1869Leu)
c.5620T>C (p.Phe1874Leu)
c.5194T>C (p.Phe1732Leu)
gnomAD v4
1g.169526012A>TCA343125371F5c.5605T>A (p.Phe1869Ile)
c.5620T>A (p.Phe1874Ile)
c.5194T>A (p.Phe1732Ile)
1g.169526013T>ACA421735156F5c.5604A>T (p.Ser1868=)
c.5619A>T (p.Ser1873=)
c.5193A>T (p.Ser1731=)
1g.169526013T>CCA421735157F5c.5604A>G (p.Ser1868=)
c.5619A>G (p.Ser1873=)
c.5193A>G (p.Ser1731=)
gnomAD v4
1g.169526013T>GCA421735158F5c.5604A>C (p.Ser1868=)
c.5619A>C (p.Ser1873=)
c.5193A>C (p.Ser1731=)
1g.169526014G>ACA343125381F5c.5603C>T (p.Ser1868Leu)
c.5618C>T (p.Ser1873Leu)
c.5192C>T (p.Ser1731Leu)
1g.169526014G>CCA343125382F5c.5603C>G (p.Ser1868Ter)
c.5618C>G (p.Ser1873Ter)
c.5192C>G (p.Ser1731Ter)
1g.169526014G>TCA343125386F5c.5603C>A (p.Ser1868Ter)
c.5618C>A (p.Ser1873Ter)
c.5192C>A (p.Ser1731Ter)
gnomAD v4
1g.169526015A=CA1206133730F5c.5602T= (p.Ser1868=)
c.5617T= (p.Ser1873=)
c.5191T= (p.Ser1731=)
1g.169526015A>CCA343125390F5c.5602T>G (p.Ser1868Ala)
c.5617T>G (p.Ser1873Ala)
c.5191T>G (p.Ser1731Ala)
1g.169526015A>GCA343125393F5c.5602T>C (p.Ser1868Pro)
c.5617T>C (p.Ser1873Pro)
c.5191T>C (p.Ser1731Pro)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.169526015A>TCA343125397F5c.5602T>A (p.Ser1868Thr)
c.5617T>A (p.Ser1873Thr)
c.5191T>A (p.Ser1731Thr)
1g.169526016A>CCA421735159F5c.5601T>G (p.Gly1867=)
c.5616T>G (p.Gly1872=)
c.5190T>G (p.Gly1730=)
1g.169526016A>GCA421735160F5c.5601T>C (p.Gly1867=)
c.5616T>C (p.Gly1872=)
c.5190T>C (p.Gly1730=)
ClinVar gnomAD v4
1g.169526016A>TCA421735161F5c.5601T>A (p.Gly1867=)
c.5616T>A (p.Gly1872=)
c.5190T>A (p.Gly1730=)
1g.169526017C>ACA343125407F5c.5600G>T (p.Gly1867Val)
c.5615G>T (p.Gly1872Val)
c.5189G>T (p.Gly1730Val)
gnomAD v4
1g.169526017C=CA1206133732F5c.5600G= (p.Gly1867=)
c.5615G= (p.Gly1872=)
c.5189G= (p.Gly1730=)
1g.169526017C>GCA343125410F5c.5600G>C (p.Gly1867Ala)
c.5615G>C (p.Gly1872Ala)
c.5189G>C (p.Gly1730Ala)
1g.169526017C>TCA1233454F5c.5600G>A (p.Gly1867Asp)
c.5615G>A (p.Gly1872Asp)
c.5189G>A (p.Gly1730Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.169526018C>ACA343125415F5c.5600-1G>T (n.5600-1G>T)
c.5615-1G>T (n.5615-1G>T)
c.5189-1G>T (n.5189-1G>T)
1g.169526018C>GCA343125414F5c.5600-1G>C (n.5600-1G>C)
c.5615-1G>C (n.5615-1G>C)
c.5189-1G>C (n.5189-1G>C)
1g.169526018C>TCA343125411F5c.5600-1G>A (n.5600-1G>A)
c.5615-1G>A (n.5615-1G>A)
c.5189-1G>A (n.5189-1G>A)
COSMIC
1g.169526019T>ACA343125420F5c.5600-2A>T (n.5600-2A>T)
c.5615-2A>T (n.5615-2A>T)
c.5189-2A>T (n.5189-2A>T)
1g.169526019T>CCA343125423F5c.5600-2A>G (n.5600-2A>G)
c.5615-2A>G (n.5615-2A>G)
c.5189-2A>G (n.5189-2A>G)
gnomAD v4
1g.169526019T>GCA343125426F5c.5600-2A>C (n.5600-2A>C)
c.5615-2A>C (n.5615-2A>C)
c.5189-2A>C (n.5189-2A>C)
1g.169526020A>GCA2649034528F5c.5600-3T>C (n.5600-3T>C)
c.5615-3T>C (n.5615-3T>C)
c.5189-3T>C (n.5189-3T>C)
gnomAD v4
1g.169526021A>GCA2649034530F5c.5600-4T>C (n.5600-4T>C)
c.5615-4T>C (n.5615-4T>C)
c.5189-4T>C (n.5189-4T>C)
gnomAD v4
1g.169526024T>CCA1008973867F5c.5600-7A>G (n.5600-7A>G)
c.5615-7A>G (n.5615-7A>G)
c.5189-7A>G (n.5189-7A>G)
dbSNP gnomAD v3 gnomAD v4
1g.169526024T=CA1206133734F5c.5600-7A= (n.5600-7A=)
c.5615-7A= (n.5615-7A=)
c.5189-7A= (n.5189-7A=)
1g.169526024_169526025delinsTACA1206133733F5c.5600-8_5600-7delinsTA (n.5600-8_5600-7delinsTA)
c.5615-8_5615-7delinsTA (n.5615-8_5615-7delinsTA)
c.5189-8_5189-7delinsTA (n.5189-8_5189-7delinsTA)
1g.169526025A=CA1206133736F5c.5600-8T= (n.5600-8T=)
c.5615-8T= (n.5615-8T=)
c.5189-8T= (n.5189-8T=)
1g.169526025A>GCA32431923F5c.5600-8T>C (n.5600-8T>C)
c.5615-8T>C (n.5615-8T>C)
c.5189-8T>C (n.5189-8T>C)
dbSNP
1g.169526029delCA890921567F5c.5600-8del (n.5600-8del)
c.5615-8del (n.5615-8del)
c.5189-8del (n.5189-8del)
ClinVar dbSNP gnomAD v3 gnomAD v4
1g.169526029A=CA1206133737F5c.5600-12T= (n.5600-12T=)
c.5615-12T= (n.5615-12T=)
c.5189-12T= (n.5189-12T=)
1g.169526029A>CCA2649034538F5c.5600-12T>G (n.5600-12T>G)
c.5615-12T>G (n.5615-12T>G)
c.5189-12T>G (n.5189-12T>G)
gnomAD v4
1g.169526029A>GCA526710481F5c.5600-12T>C (n.5600-12T>C)
c.5615-12T>C (n.5615-12T>C)
c.5189-12T>C (n.5189-12T>C)
dbSNP gnomAD v2 gnomAD v4
1g.169526030G>CCA2746573908F5c.5600-13C>G (n.5600-13C>G)
c.5615-13C>G (n.5615-13C>G)
c.5189-13C>G (n.5189-13C>G)
1g.169526030G>TCA2649034540F5c.5600-13C>A (n.5600-13C>A)
c.5615-13C>A (n.5615-13C>A)
c.5189-13C>A (n.5189-13C>A)
gnomAD v4
1g.169526030_169526033delinsGAACCA1206133738F5c.5600-16_5600-13delinsGTTC (n.5600-16_5600-13delinsGTTC)
c.5615-16_5615-13delinsGTTC (n.5615-16_5615-13delinsGTTC)
c.5189-16_5189-13delinsGTTC (n.5189-16_5189-13delinsGTTC)
1g.169526035_169526037delCA1233455F5c.5600-16_5600-14del (n.5600-16_5600-14del)
c.5615-16_5615-14del (n.5615-16_5615-14del)
c.5189-16_5189-14del (n.5189-16_5189-14del)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169526032A=CA1206133739F5c.5600-15T= (n.5600-15T=)
c.5615-15T= (n.5615-15T=)
c.5189-15T= (n.5189-15T=)
1g.169526032A>GCA890921572F5c.5600-15T>C (n.5600-15T>C)
c.5615-15T>C (n.5615-15T>C)
c.5189-15T>C (n.5189-15T>C)
dbSNP gnomAD v4
1g.169526033C>ACA2649034542F5c.5600-16G>T (n.5600-16G>T)
c.5615-16G>T (n.5615-16G>T)
c.5189-16G>T (n.5189-16G>T)
gnomAD v4
1g.169526035A=CA1146608505F5c.5600-18T= (n.5600-18T=)
c.5615-18T= (n.5615-18T=)
c.5189-18T= (n.5189-18T=)
1g.169526035A>GCA1233456F5c.5600-18T>C (n.5600-18T>C)
c.5615-18T>C (n.5615-18T>C)
c.5189-18T>C (n.5189-18T>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169526036C>TCA2746573910F5c.5600-19G>A (n.5600-19G>A)
c.5615-19G>A (n.5615-19G>A)
c.5189-19G>A (n.5189-19G>A)
1g.169526037A>GCA2649034546F5c.5600-20T>C (n.5600-20T>C)
c.5615-20T>C (n.5615-20T>C)
c.5189-20T>C (n.5189-20T>C)
gnomAD v4
1g.169526038T>CCA1233457F5c.5600-21A>G (n.5600-21A>G)
c.5615-21A>G (n.5615-21A>G)
c.5189-21A>G (n.5189-21A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.169526038T=CA1149137096F5c.5600-21A= (n.5600-21A=)
c.5615-21A= (n.5615-21A=)
c.5189-21A= (n.5189-21A=)
1g.169526039T>CCA1233458F5c.5600-22A>G (n.5600-22A>G)
c.5615-22A>G (n.5615-22A>G)
c.5189-22A>G (n.5189-22A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.169526039T=CA1206133742F5c.5600-22A= (n.5600-22A=)
c.5615-22A= (n.5615-22A=)
c.5189-22A= (n.5189-22A=)
1g.169526041C>ACA1233459F5c.5600-24G>T (n.5600-24G>T)
c.5615-24G>T (n.5615-24G>T)
c.5189-24G>T (n.5189-24G>T)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.169526041C=CA1206133744F5c.5600-24G= (n.5600-24G=)
c.5615-24G= (n.5615-24G=)
c.5189-24G= (n.5189-24G=)
1g.169526041C>TCA2649034551F5c.5600-24G>A (n.5600-24G>A)
c.5615-24G>A (n.5615-24G>A)
c.5189-24G>A (n.5189-24G>A)
gnomAD v4
1g.169526042A=CA1143427742F5c.5600-25T= (n.5600-25T=)
c.5615-25T= (n.5615-25T=)
c.5189-25T= (n.5189-25T=)
1g.169526042A>GCA1233460F5c.5600-25T>C (n.5600-25T>C)
c.5615-25T>C (n.5615-25T>C)
c.5189-25T>C (n.5189-25T>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169526043T>ACA1233461F5c.5600-26A>T (n.5600-26A>T)
c.5615-26A>T (n.5615-26A>T)
c.5189-26A>T (n.5189-26A>T)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.169526043T>CCA2697244039F5c.5600-26A>G (n.5600-26A>G)
c.5615-26A>G (n.5615-26A>G)
c.5189-26A>G (n.5189-26A>G)
dbSNP
1g.169526043T=CA1206133747F5c.5600-26A= (n.5600-26A=)
c.5615-26A= (n.5615-26A=)
c.5189-26A= (n.5189-26A=)
1g.169526045T>ACA526710482F5c.5600-28A>T (n.5600-28A>T)
c.5615-28A>T (n.5615-28A>T)
c.5189-28A>T (n.5189-28A>T)
dbSNP gnomAD v2 gnomAD v4
1g.169526045T=CA1206133749F5c.5600-28A= (n.5600-28A=)
c.5615-28A= (n.5615-28A=)
c.5189-28A= (n.5189-28A=)
1g.169526046G>ACA2574085041F5c.5600-29C>T (n.5600-29C>T)
c.5615-29C>T (n.5615-29C>T)
c.5189-29C>T (n.5189-29C>T)
1g.169526046G=CA1206133750F5c.5600-29C= (n.5600-29C=)
c.5615-29C= (n.5615-29C=)
c.5189-29C= (n.5189-29C=)
1g.169526046G>TCA526710483F5c.5600-29C>A (n.5600-29C>A)
c.5615-29C>A (n.5615-29C>A)
c.5189-29C>A (n.5189-29C>A)
dbSNP gnomAD v2 gnomAD v4
1g.169526046_169526047delinsGCCA1206133751F5c.5600-30_5600-29delinsGC (n.5600-30_5600-29delinsGC)
c.5615-30_5615-29delinsGC (n.5615-30_5615-29delinsGC)
c.5189-30_5189-29delinsGC (n.5189-30_5189-29delinsGC)
1g.169526047delCA1008973877F5c.5600-30del (n.5600-30del)
c.5615-30del (n.5615-30del)
c.5189-30del (n.5189-30del)
dbSNP gnomAD v3 gnomAD v4
1g.169526047C=CA1206133754F5c.5600-30G= (n.5600-30G=)
c.5615-30G= (n.5615-30G=)
c.5189-30G= (n.5189-30G=)
1g.169526047C>TCA890921588F5c.5600-30G>A (n.5600-30G>A)
c.5615-30G>A (n.5615-30G>A)
c.5189-30G>A (n.5189-30G>A)
dbSNP gnomAD v4
1g.169526052dupCA526710484F5c.5600-31dup (n.5600-31dup)
c.5615-31dup (n.5615-31dup)
c.5189-31dup (n.5189-31dup)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.169526052A=CA1206133755F5c.5600-35T= (n.5600-35T=)
c.5615-35T= (n.5615-35T=)
c.5189-35T= (n.5189-35T=)
1g.169526052A>GCA1233462F5c.5600-35T>C (n.5600-35T>C)
c.5615-35T>C (n.5615-35T>C)
c.5189-35T>C (n.5189-35T>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169526053T>CCA2649034556F5c.5600-36A>G (n.5600-36A>G)
c.5615-36A>G (n.5615-36A>G)
c.5189-36A>G (n.5189-36A>G)
gnomAD v4
1g.169526053T>GCA526710485F5c.5600-36A>C (n.5600-36A>C)
c.5615-36A>C (n.5615-36A>C)
c.5189-36A>C (n.5189-36A>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.169526053T=CA1206133757F5c.5600-36A= (n.5600-36A=)
c.5615-36A= (n.5615-36A=)
c.5189-36A= (n.5189-36A=)
1g.169526054T>ACA2649034557F5c.5600-37A>T (n.5600-37A>T)
c.5615-37A>T (n.5615-37A>T)
c.5189-37A>T (n.5189-37A>T)
gnomAD v4
1g.169526054T>GCA2649034558F5c.5600-37A>C (n.5600-37A>C)
c.5615-37A>C (n.5615-37A>C)
c.5189-37A>C (n.5189-37A>C)
gnomAD v4

Number of alleles fetched