Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51807253A=CA2036194937SCN8Ac.5767A= (p.Asn1923=)
c.5644A= (p.Asn1882=)
c.5800A= (p.Asn1934=)
12g.51807253A>CCA384889271SCN8Ac.5767A>C (p.Asn1923His)
c.5644A>C (p.Asn1882His)
c.5800A>C (p.Asn1934His)
 gnomAD v4
12g.51807253A>GCA384889273SCN8Ac.5767A>G (p.Asn1923Asp)
c.5644A>G (p.Asn1882Asp)
c.5800A>G (p.Asn1934Asp)
 dbSNP gnomAD v3 gnomAD v4
12g.51807253A>TCA384889275SCN8Ac.5767A>T (p.Asn1923Tyr)
c.5644A>T (p.Asn1882Tyr)
c.5800A>T (p.Asn1934Tyr)
12g.51807254A>CCA384889286SCN8Ac.5768A>C (p.Asn1923Thr)
c.5645A>C (p.Asn1882Thr)
c.5801A>C (p.Asn1934Thr)
12g.51807254A>GCA384889287SCN8Ac.5768A>G (p.Asn1923Ser)
c.5645A>G (p.Asn1882Ser)
c.5801A>G (p.Asn1934Ser)
12g.51807254A>TCA384889289SCN8Ac.5768A>T (p.Asn1923Ile)
c.5645A>T (p.Asn1882Ile)
c.5801A>T (p.Asn1934Ile)
12g.51807255T>ACA384889293SCN8Ac.5769T>A (p.Asn1923Lys)
c.5646T>A (p.Asn1882Lys)
c.5802T>A (p.Asn1934Lys)
12g.51807255T>CCA480062237SCN8Ac.5769T>C (p.Asn1923=)
c.5646T>C (p.Asn1882=)
c.5802T>C (p.Asn1934=)
 ClinVar
12g.51807255T>GCA384889292SCN8Ac.5769T>G (p.Asn1923Lys)
c.5646T>G (p.Asn1882Lys)
c.5802T>G (p.Asn1934Lys)
12g.51807256A=CA2036194942SCN8Ac.5770A= (p.Lys1924=)
c.5647A= (p.Lys1883=)
c.5803A= (p.Lys1935=)
12g.51807256A>CCA384889294SCN8Ac.5770A>C (p.Lys1924Gln)
c.5647A>C (p.Lys1883Gln)
c.5803A>C (p.Lys1935Gln)
12g.51807256A>GCA384889299SCN8Ac.5770A>G (p.Lys1924Glu)
c.5647A>G (p.Lys1883Glu)
c.5803A>G (p.Lys1935Glu)
12g.51807256A>TCA384889296SCN8Ac.5770A>T (p.Lys1924Ter)
c.5647A>T (p.Lys1883Ter)
c.5803A>T (p.Lys1935Ter)
 dbSNP
12g.51807257A>CCA384889302SCN8Ac.5771A>C (p.Lys1924Thr)
c.5648A>C (p.Lys1883Thr)
c.5804A>C (p.Lys1935Thr)
12g.51807257A>GCA384889310SCN8Ac.5771A>G (p.Lys1924Arg)
c.5648A>G (p.Lys1883Arg)
c.5804A>G (p.Lys1935Arg)
12g.51807257A>TCA384889307SCN8Ac.5771A>T (p.Lys1924Met)
c.5648A>T (p.Lys1883Met)
c.5804A>T (p.Lys1935Met)
12g.51807258G>ACA480062251SCN8Ac.5772G>A (p.Lys1924=)
c.5649G>A (p.Lys1883=)
c.5805G>A (p.Lys1935=)
12g.51807258G>CCA384889315SCN8Ac.5772G>C (p.Lys1924Asn)
c.5649G>C (p.Lys1883Asn)
c.5805G>C (p.Lys1935Asn)
12g.51807258G>TCA384889320SCN8Ac.5772G>T (p.Lys1924Asn)
c.5649G>T (p.Lys1883Asn)
c.5805G>T (p.Lys1935Asn)
12g.51807259C>ACA384889322SCN8Ac.5773C>A (p.Leu1925Met)
c.5650C>A (p.Leu1884Met)
c.5806C>A (p.Leu1936Met)
12g.51807259C>GCA384889325SCN8Ac.5773C>G (p.Leu1925Val)
c.5650C>G (p.Leu1884Val)
c.5806C>G (p.Leu1936Val)
12g.51807259C>TCA480062258SCN8Ac.5773C>T (p.Leu1925=)
c.5650C>T (p.Leu1884=)
c.5806C>T (p.Leu1936=)
12g.51807260T>ACA384889328SCN8Ac.5774T>A (p.Leu1925Gln)
c.5651T>A (p.Leu1884Gln)
c.5807T>A (p.Leu1936Gln)
12g.51807260T>CCA384889331SCN8Ac.5774T>C (p.Leu1925Pro)
c.5651T>C (p.Leu1884Pro)
c.5807T>C (p.Leu1936Pro)
12g.51807260T>GCA384889332SCN8Ac.5774T>G (p.Leu1925Arg)
c.5651T>G (p.Leu1884Arg)
c.5807T>G (p.Leu1936Arg)
12g.51807261G>ACA480062260SCN8Ac.5775G>A (p.Leu1925=)
c.5652G>A (p.Leu1884=)
c.5808G>A (p.Leu1936=)
 gnomAD v4
12g.51807261G>CCA480062261SCN8Ac.5775G>C (p.Leu1925=)
c.5652G>C (p.Leu1884=)
c.5808G>C (p.Leu1936=)
12g.51807261G>TCA480062263SCN8Ac.5775G>T (p.Leu1925=)
c.5652G>T (p.Leu1884=)
c.5808G>T (p.Leu1936=)
 gnomAD v4
12g.51807262G>ACA384889335SCN8Ac.5776G>A (p.Glu1926Lys)
c.5653G>A (p.Glu1885Lys)
c.5809G>A (p.Glu1937Lys)
12g.51807262G>CCA384889338SCN8Ac.5776G>C (p.Glu1926Gln)
c.5653G>C (p.Glu1885Gln)
c.5809G>C (p.Glu1937Gln)
12g.51807262G=CA2036194947SCN8Ac.5776G= (p.Glu1926=)
c.5653G= (p.Glu1885=)
c.5809G= (p.Glu1937=)
12g.51807262G>TCA384889340SCN8Ac.5776G>T (p.Glu1926Ter)
c.5653G>T (p.Glu1885Ter)
c.5809G>T (p.Glu1937Ter)
 dbSNP
12g.51807263A>CCA384889343SCN8Ac.5777A>C (p.Glu1926Ala)
c.5654A>C (p.Glu1885Ala)
c.5810A>C (p.Glu1937Ala)
 gnomAD v4
12g.51807263A>GCA384889344SCN8Ac.5777A>G (p.Glu1926Gly)
c.5654A>G (p.Glu1885Gly)
c.5810A>G (p.Glu1937Gly)
 gnomAD v4
12g.51807263A>TCA384889347SCN8Ac.5777A>T (p.Glu1926Val)
c.5654A>T (p.Glu1885Val)
c.5810A>T (p.Glu1937Val)
 ClinVar
12g.51807264G>ACA480062271SCN8Ac.5778G>A (p.Glu1926=)
c.5655G>A (p.Glu1885=)
c.5811G>A (p.Glu1937=)
12g.51807264G>CCA384889352SCN8Ac.5778G>C (p.Glu1926Asp)
c.5655G>C (p.Glu1885Asp)
c.5811G>C (p.Glu1937Asp)
12g.51807264G>TCA384889350SCN8Ac.5778G>T (p.Glu1926Asp)
c.5655G>T (p.Glu1885Asp)
c.5811G>T (p.Glu1937Asp)
12g.51807265A>CCA384889354SCN8Ac.5779A>C (p.Asn1927His)
c.5656A>C (p.Asn1886His)
c.5812A>C (p.Asn1938His)
12g.51807265A>GCA384889357SCN8Ac.5779A>G (p.Asn1927Asp)
c.5656A>G (p.Asn1886Asp)
c.5812A>G (p.Asn1938Asp)
12g.51807265A>TCA384889358SCN8Ac.5779A>T (p.Asn1927Tyr)
c.5656A>T (p.Asn1886Tyr)
c.5812A>T (p.Asn1938Tyr)
12g.51807266A=CA2036194950SCN8Ac.5780A= (p.Asn1927=)
c.5657A= (p.Asn1886=)
c.5813A= (p.Asn1938=)
12g.51807266A>CCA384889361SCN8Ac.5780A>C (p.Asn1927Thr)
c.5657A>C (p.Asn1886Thr)
c.5813A>C (p.Asn1938Thr)
12g.51807266A>GCA384889371SCN8Ac.5780A>G (p.Asn1927Ser)
c.5657A>G (p.Asn1886Ser)
c.5813A>G (p.Asn1938Ser)
 dbSNP gnomAD v2 gnomAD v4
12g.51807266A>TCA384889372SCN8Ac.5780A>T (p.Asn1927Ile)
c.5657A>T (p.Asn1886Ile)
c.5813A>T (p.Asn1938Ile)
12g.51807267T>ACA384889374SCN8Ac.5781T>A (p.Asn1927Lys)
c.5658T>A (p.Asn1886Lys)
c.5814T>A (p.Asn1938Lys)
12g.51807267T>CCA6571952SCN8Ac.5781T>C (p.Asn1927=)
c.5658T>C (p.Asn1886=)
c.5814T>C (p.Asn1938=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51807267T>GCA384889378SCN8Ac.5781T>G (p.Asn1927Lys)
c.5658T>G (p.Asn1886Lys)
c.5814T>G (p.Asn1938Lys)
12g.51807267T=CA2036194956SCN8Ac.5781T= (p.Asn1927=)
c.5658T= (p.Asn1886=)
c.5814T= (p.Asn1938=)
12g.51807268G>ACA384889382SCN8Ac.5782G>A (p.Gly1928Arg)
c.5659G>A (p.Gly1887Arg)
c.5815G>A (p.Gly1939Arg)
12g.51807268G>CCA384889386SCN8Ac.5782G>C (p.Gly1928Arg)
c.5659G>C (p.Gly1887Arg)
c.5815G>C (p.Gly1939Arg)
12g.51807268G=CA2036194960SCN8Ac.5782G= (p.Gly1928=)
c.5659G= (p.Gly1887=)
c.5815G= (p.Gly1939=)
12g.51807268G>TCA384889394SCN8Ac.5782G>T (p.Gly1928Ter)
c.5659G>T (p.Gly1887Ter)
c.5815G>T (p.Gly1939Ter)
 dbSNP
12g.51807269G>ACA384889398SCN8Ac.5783G>A (p.Gly1928Glu)
c.5660G>A (p.Gly1887Glu)
c.5816G>A (p.Gly1939Glu)
12g.51807269G>CCA384889411SCN8Ac.5783G>C (p.Gly1928Ala)
c.5660G>C (p.Gly1887Ala)
c.5816G>C (p.Gly1939Ala)
12g.51807269G>TCA384889396SCN8Ac.5783G>T (p.Gly1928Val)
c.5660G>T (p.Gly1887Val)
c.5816G>T (p.Gly1939Val)
12g.51807270A>CCA480062287SCN8Ac.5784A>C (p.Gly1928=)
c.5661A>C (p.Gly1887=)
c.5817A>C (p.Gly1939=)
12g.51807270A>GCA480062288SCN8Ac.5784A>G (p.Gly1928=)
c.5661A>G (p.Gly1887=)
c.5817A>G (p.Gly1939=)
12g.51807270A>TCA480062289SCN8Ac.5784A>T (p.Gly1928=)
c.5661A>T (p.Gly1887=)
c.5817A>T (p.Gly1939=)
12g.51807271G>ACA384889417SCN8Ac.5785G>A (p.Gly1929Ser)
c.5662G>A (p.Gly1888Ser)
c.5818G>A (p.Gly1940Ser)
12g.51807271G>CCA384889421SCN8Ac.5785G>C (p.Gly1929Arg)
c.5662G>C (p.Gly1888Arg)
c.5818G>C (p.Gly1940Arg)
12g.51807271G>TCA384889424SCN8Ac.5785G>T (p.Gly1929Cys)
c.5662G>T (p.Gly1888Cys)
c.5818G>T (p.Gly1940Cys)
12g.51807272G>ACA384889427SCN8Ac.5786G>A (p.Gly1929Asp)
c.5663G>A (p.Gly1888Asp)
c.5819G>A (p.Gly1940Asp)
12g.51807272G>CCA6571953SCN8Ac.5786G>C (p.Gly1929Ala)
c.5663G>C (p.Gly1888Ala)
c.5819G>C (p.Gly1940Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51807272G=CA2036194968SCN8Ac.5786G= (p.Gly1929=)
c.5663G= (p.Gly1888=)
c.5819G= (p.Gly1940=)
12g.51807272G>TCA384889432SCN8Ac.5786G>T (p.Gly1929Val)
c.5663G>T (p.Gly1888Val)
c.5819G>T (p.Gly1940Val)
12g.51807273C>ACA480062293SCN8Ac.5787C>A (p.Gly1929=)
c.5664C>A (p.Gly1888=)
c.5820C>A (p.Gly1940=)
12g.51807273C>GCA480062292SCN8Ac.5787C>G (p.Gly1929=)
c.5664C>G (p.Gly1888=)
c.5820C>G (p.Gly1940=)
12g.51807273C>TCA480062291SCN8Ac.5787C>T (p.Gly1929=)
c.5664C>T (p.Gly1888=)
c.5820C>T (p.Gly1940=)
12g.51807274A>CCA384889436SCN8Ac.5788A>C (p.Thr1930Pro)
c.5665A>C (p.Thr1889Pro)
c.5821A>C (p.Thr1941Pro)
12g.51807274A>GCA384889449SCN8Ac.5788A>G (p.Thr1930Ala)
c.5665A>G (p.Thr1889Ala)
c.5821A>G (p.Thr1941Ala)
12g.51807274A>TCA384889452SCN8Ac.5788A>T (p.Thr1930Ser)
c.5665A>T (p.Thr1889Ser)
c.5821A>T (p.Thr1941Ser)
12g.51807275C>ACA384889455SCN8Ac.5789C>A (p.Thr1930Lys)
c.5666C>A (p.Thr1889Lys)
c.5822C>A (p.Thr1941Lys)
12g.51807275C=CA2036194974SCN8Ac.5789C= (p.Thr1930=)
c.5666C= (p.Thr1889=)
c.5822C= (p.Thr1941=)
12g.51807275C>GCA384889459SCN8Ac.5789C>G (p.Thr1930Arg)
c.5666C>G (p.Thr1889Arg)
c.5822C>G (p.Thr1941Arg)
12g.51807275C>TCA6571954SCN8Ac.5789C>T (p.Thr1930Ile)
c.5666C>T (p.Thr1889Ile)
c.5822C>T (p.Thr1941Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51807276A>CCA480062298SCN8Ac.5790A>C (p.Thr1930=)
c.5667A>C (p.Thr1889=)
c.5823A>C (p.Thr1941=)
12g.51807276A>GCA480062299SCN8Ac.5790A>G (p.Thr1930=)
c.5667A>G (p.Thr1889=)
c.5823A>G (p.Thr1941=)
 gnomAD v4
12g.51807276A>TCA480062301SCN8Ac.5790A>T (p.Thr1930=)
c.5667A>T (p.Thr1889=)
c.5823A>T (p.Thr1941=)
12g.51807277C>ACA384889469SCN8Ac.5791C>A (p.His1931Asn)
c.5668C>A (p.His1890Asn)
c.5824C>A (p.His1942Asn)
12g.51807277C>GCA384889463SCN8Ac.5791C>G (p.His1931Asp)
c.5668C>G (p.His1890Asp)
c.5824C>G (p.His1942Asp)
12g.51807277C>TCA384889466SCN8Ac.5791C>T (p.His1931Tyr)
c.5668C>T (p.His1890Tyr)
c.5824C>T (p.His1942Tyr)
 gnomAD v4
12g.51807278A>CCA384889470SCN8Ac.5792A>C (p.His1931Pro)
c.5669A>C (p.His1890Pro)
c.5825A>C (p.His1942Pro)
12g.51807278A>GCA384889471SCN8Ac.5792A>G (p.His1931Arg)
c.5669A>G (p.His1890Arg)
c.5825A>G (p.His1942Arg)
12g.51807278A>TCA384889472SCN8Ac.5792A>T (p.His1931Leu)
c.5669A>T (p.His1890Leu)
c.5825A>T (p.His1942Leu)
12g.51807279C>ACA384889475SCN8Ac.5793C>A (p.His1931Gln)
c.5670C>A (p.His1890Gln)
c.5826C>A (p.His1942Gln)
12g.51807279C=CA2036194978SCN8Ac.5793C= (p.His1931=)
c.5670C= (p.His1890=)
c.5826C= (p.His1942=)
12g.51807279C>GCA384889477SCN8Ac.5793C>G (p.His1931Gln)
c.5670C>G (p.His1890Gln)
c.5826C>G (p.His1942Gln)
 ClinVar dbSNP
12g.51807279C>TCA480062308SCN8Ac.5793C>T (p.His1931=)
c.5670C>T (p.His1890=)
c.5826C>T (p.His1942=)
12g.51807280C>ACA480062309SCN8Ac.5794C>A (p.Arg1932=)
c.5671C>A (p.Arg1891=)
c.5827C>A (p.Arg1943=)
12g.51807280C=CA2036194982SCN8Ac.5794C= (p.Arg1932=)
c.5671C= (p.Arg1891=)
c.5827C= (p.Arg1943=)
12g.51807280C>GCA384889485SCN8Ac.5794C>G (p.Arg1932Gly)
c.5671C>G (p.Arg1891Gly)
c.5827C>G (p.Arg1943Gly)
12g.51807280C>TCA6571955SCN8Ac.5794C>T (p.Arg1932Trp)
c.5671C>T (p.Arg1891Trp)
c.5827C>T (p.Arg1943Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.51807281G>ACA6571956SCN8Ac.5795G>A (p.Arg1932Gln)
c.5672G>A (p.Arg1891Gln)
c.5828G>A (p.Arg1943Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.51807281G>CCA318305SCN8Ac.5795G>C (p.Arg1932Pro)
c.5672G>C (p.Arg1891Pro)
c.5828G>C (p.Arg1943Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51807281G=CA2036194990SCN8Ac.5795G= (p.Arg1932=)
c.5672G= (p.Arg1891=)
c.5828G= (p.Arg1943=)
12g.51807281G>TCA384889496SCN8Ac.5795G>T (p.Arg1932Leu)
c.5672G>T (p.Arg1891Leu)
c.5828G>T (p.Arg1943Leu)
12g.51807282G>ACA480062316SCN8Ac.5796G>A (p.Arg1932=)
c.5673G>A (p.Arg1891=)
c.5829G>A (p.Arg1943=)
 ClinVar dbSNP
12g.51807282G>CCA480062317SCN8Ac.5796G>C (p.Arg1932=)
c.5673G>C (p.Arg1891=)
c.5829G>C (p.Arg1943=)
12g.51807282G>TCA480062319SCN8Ac.5796G>T (p.Arg1932=)
c.5673G>T (p.Arg1891=)
c.5829G>T (p.Arg1943=)
12g.51807283G>ACA384889498SCN8Ac.5797G>A (p.Glu1933Lys)
c.5674G>A (p.Glu1892Lys)
c.5830G>A (p.Glu1944Lys)
12g.51807283G>CCA384889500SCN8Ac.5797G>C (p.Glu1933Gln)
c.5674G>C (p.Glu1892Gln)
c.5830G>C (p.Glu1944Gln)
12g.51807283G=CA2036194995SCN8Ac.5797G= (p.Glu1933=)
c.5674G= (p.Glu1892=)
c.5830G= (p.Glu1944=)
12g.51807283G>TCA384889501SCN8Ac.5797G>T (p.Glu1933Ter)
c.5674G>T (p.Glu1892Ter)
c.5830G>T (p.Glu1944Ter)
 dbSNP
12g.51807284A>CCA384889509SCN8Ac.5798A>C (p.Glu1933Ala)
c.5675A>C (p.Glu1892Ala)
c.5831A>C (p.Glu1944Ala)
12g.51807284A>GCA384889506SCN8Ac.5798A>G (p.Glu1933Gly)
c.5675A>G (p.Glu1892Gly)
c.5831A>G (p.Glu1944Gly)
12g.51807284A>TCA384889504SCN8Ac.5798A>T (p.Glu1933Val)
c.5675A>T (p.Glu1892Val)
c.5831A>T (p.Glu1944Val)
12g.51807285G>ACA480062324SCN8Ac.5799G>A (p.Glu1933=)
c.5676G>A (p.Glu1892=)
c.5832G>A (p.Glu1944=)
12g.51807285G>CCA384889513SCN8Ac.5799G>C (p.Glu1933Asp)
c.5676G>C (p.Glu1892Asp)
c.5832G>C (p.Glu1944Asp)
12g.51807285G>TCA384889512SCN8Ac.5799G>T (p.Glu1933Asp)
c.5676G>T (p.Glu1892Asp)
c.5832G>T (p.Glu1944Asp)
12g.51807286A=CA2036194998SCN8Ac.5800A= (p.Lys1934=)
c.5677A= (p.Lys1893=)
c.5833A= (p.Lys1945=)
12g.51807286A>CCA384889516SCN8Ac.5800A>C (p.Lys1934Gln)
c.5677A>C (p.Lys1893Gln)
c.5833A>C (p.Lys1945Gln)
12g.51807286A>GCA384889514SCN8Ac.5800A>G (p.Lys1934Glu)
c.5677A>G (p.Lys1893Glu)
c.5833A>G (p.Lys1945Glu)
 ClinVar dbSNP
12g.51807286A>TCA384889515SCN8Ac.5800A>T (p.Lys1934Ter)
c.5677A>T (p.Lys1893Ter)
c.5833A>T (p.Lys1945Ter)
 dbSNP
12g.51807287A>CCA384889517SCN8Ac.5801A>C (p.Lys1934Thr)
c.5678A>C (p.Lys1893Thr)
c.5834A>C (p.Lys1945Thr)
 gnomAD v4
12g.51807287A>GCA384889518SCN8Ac.5801A>G (p.Lys1934Arg)
c.5678A>G (p.Lys1893Arg)
c.5834A>G (p.Lys1945Arg)
 gnomAD v4
12g.51807287A>TCA384889521SCN8Ac.5801A>T (p.Lys1934Ile)
c.5678A>T (p.Lys1893Ile)
c.5834A>T (p.Lys1945Ile)
12g.51807288A>CCA384889524SCN8Ac.5802A>C (p.Lys1934Asn)
c.5679A>C (p.Lys1893Asn)
c.5835A>C (p.Lys1945Asn)
12g.51807288A>GCA480062334SCN8Ac.5802A>G (p.Lys1934=)
c.5679A>G (p.Lys1893=)
c.5835A>G (p.Lys1945=)
12g.51807288A>TCA384889526SCN8Ac.5802A>T (p.Lys1934Asn)
c.5679A>T (p.Lys1893Asn)
c.5835A>T (p.Lys1945Asn)
 COSMIC COSMIC
12g.51807289A=CA2036195001SCN8Ac.5803A= (p.Lys1935=)
c.5680A= (p.Lys1894=)
c.5836A= (p.Lys1946=)
12g.51807289A>CCA384889528SCN8Ac.5803A>C (p.Lys1935Gln)
c.5680A>C (p.Lys1894Gln)
c.5836A>C (p.Lys1946Gln)
12g.51807289A>GCA384889530SCN8Ac.5803A>G (p.Lys1935Glu)
c.5680A>G (p.Lys1894Glu)
c.5836A>G (p.Lys1946Glu)
12g.51807289A>TCA384889533SCN8Ac.5803A>T (p.Lys1935Ter)
c.5680A>T (p.Lys1894Ter)
c.5836A>T (p.Lys1946Ter)
 dbSNP
12g.51807290A>CCA384889539SCN8Ac.5804A>C (p.Lys1935Thr)
c.5681A>C (p.Lys1894Thr)
c.5837A>C (p.Lys1946Thr)
12g.51807290A>GCA384889540SCN8Ac.5804A>G (p.Lys1935Arg)
c.5681A>G (p.Lys1894Arg)
c.5837A>G (p.Lys1946Arg)
12g.51807290A>TCA384889541SCN8Ac.5804A>T (p.Lys1935Ile)
c.5681A>T (p.Lys1894Ile)
c.5837A>T (p.Lys1946Ile)
12g.51807290_51807292delinsAAGCA2036195005SCN8Ac.5804_5806delinsAAG (p.Lys1935=)
c.5681_5683delinsAAG (p.Lys1894=)
c.5837_5839delinsAAG (p.Lys1946=)
12g.51807291A>CCA384889542SCN8Ac.5805A>C (p.Lys1935Asn)
c.5682A>C (p.Lys1894Asn)
c.5838A>C (p.Lys1946Asn)
12g.51807291A>GCA480062339SCN8Ac.5805A>G (p.Lys1935=)
c.5682A>G (p.Lys1894=)
c.5838A>G (p.Lys1946=)
 gnomAD v4
12g.51807291A>TCA384889543SCN8Ac.5805A>T (p.Lys1935Asn)
c.5682A>T (p.Lys1894Asn)
c.5838A>T (p.Lys1946Asn)
12g.51807295_51807296delCA689783793SCN8Ac.5809_5810del (p.Ser1937HisfsTer11)
c.5686_5687del (p.Ser1896HisfsTer11)
c.5842_5843del (p.Ser1948HisfsTer11)
 dbSNP gnomAD v3 gnomAD v4
12g.51807292G>ACA384889545SCN8Ac.5806G>A (p.Glu1936Lys)
c.5683G>A (p.Glu1895Lys)
c.5839G>A (p.Glu1947Lys)
12g.51807292G>CCA384889558SCN8Ac.5806G>C (p.Glu1936Gln)
c.5683G>C (p.Glu1895Gln)
c.5839G>C (p.Glu1947Gln)
 gnomAD v4
12g.51807292G=CA2036195012SCN8Ac.5806G= (p.Glu1936=)
c.5683G= (p.Glu1895=)
c.5839G= (p.Glu1947=)
12g.51807292G>TCA384889560SCN8Ac.5806G>T (p.Glu1936Ter)
c.5683G>T (p.Glu1895Ter)
c.5839G>T (p.Glu1947Ter)
 dbSNP
12g.51807293A>CCA384889561SCN8Ac.5807A>C (p.Glu1936Ala)
c.5684A>C (p.Glu1895Ala)
c.5840A>C (p.Glu1947Ala)
12g.51807293A>GCA384889562SCN8Ac.5807A>G (p.Glu1936Gly)
c.5684A>G (p.Glu1895Gly)
c.5840A>G (p.Glu1947Gly)
12g.51807293A>TCA384889564SCN8Ac.5807A>T (p.Glu1936Val)
c.5684A>T (p.Glu1895Val)
c.5840A>T (p.Glu1947Val)
12g.51807294G>ACA480062344SCN8Ac.5808G>A (p.Glu1936=)
c.5685G>A (p.Glu1895=)
c.5841G>A (p.Glu1947=)
 ClinVar dbSNP gnomAD v4
12g.51807294G>CCA384889567SCN8Ac.5808G>C (p.Glu1936Asp)
c.5685G>C (p.Glu1895Asp)
c.5841G>C (p.Glu1947Asp)
12g.51807294G=CA2036195016SCN8Ac.5808G= (p.Glu1936=)
c.5685G= (p.Glu1895=)
c.5841G= (p.Glu1947=)
12g.51807294G>TCA384889572SCN8Ac.5808G>T (p.Glu1936Asp)
c.5685G>T (p.Glu1895Asp)
c.5841G>T (p.Glu1947Asp)
12g.51807295A=CA2036195022SCN8Ac.5809A= (p.Ser1937=)
c.5686A= (p.Ser1896=)
c.5842A= (p.Ser1948=)
12g.51807295A>CCA318307SCN8Ac.5809A>C (p.Ser1937Arg)
c.5686A>C (p.Ser1896Arg)
c.5842A>C (p.Ser1948Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51807295A>GCA384889580SCN8Ac.5809A>G (p.Ser1937Gly)
c.5686A>G (p.Ser1896Gly)
c.5842A>G (p.Ser1948Gly)
12g.51807295A>TCA384889588SCN8Ac.5809A>T (p.Ser1937Cys)
c.5686A>T (p.Ser1896Cys)
c.5842A>T (p.Ser1948Cys)
12g.51807296G>ACA384889594SCN8Ac.5810G>A (p.Ser1937Asn)
c.5687G>A (p.Ser1896Asn)
c.5843G>A (p.Ser1948Asn)
12g.51807296G>CCA384889602SCN8Ac.5810G>C (p.Ser1937Thr)
c.5687G>C (p.Ser1896Thr)
c.5843G>C (p.Ser1948Thr)
12g.51807296G>TCA384889591SCN8Ac.5810G>T (p.Ser1937Ile)
c.5687G>T (p.Ser1896Ile)
c.5843G>T (p.Ser1948Ile)
 COSMIC COSMIC
12g.51807297C>ACA384889605SCN8Ac.5811C>A (p.Ser1937Arg)
c.5688C>A (p.Ser1896Arg)
c.5844C>A (p.Ser1948Arg)
12g.51807297C>GCA384889608SCN8Ac.5811C>G (p.Ser1937Arg)
c.5688C>G (p.Ser1896Arg)
c.5844C>G (p.Ser1948Arg)
12g.51807297C>TCA480062352SCN8Ac.5811C>T (p.Ser1937=)
c.5688C>T (p.Ser1896=)
c.5844C>T (p.Ser1948=)
12g.51807298A>CCA384889623SCN8Ac.5812A>C (p.Thr1938Pro)
c.5689A>C (p.Thr1897Pro)
c.5845A>C (p.Thr1949Pro)
 gnomAD v4
12g.51807298A>GCA384889627SCN8Ac.5812A>G (p.Thr1938Ala)
c.5689A>G (p.Thr1897Ala)
c.5845A>G (p.Thr1949Ala)
12g.51807298A>TCA384889630SCN8Ac.5812A>T (p.Thr1938Ser)
c.5689A>T (p.Thr1897Ser)
c.5845A>T (p.Thr1949Ser)
12g.51807299C>ACA6571957SCN8Ac.5813C>A (p.Thr1938Asn)
c.5690C>A (p.Thr1897Asn)
c.5846C>A (p.Thr1949Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51807299C=CA2036195026SCN8Ac.5813C= (p.Thr1938=)
c.5690C= (p.Thr1897=)
c.5846C= (p.Thr1949=)
12g.51807299C>GCA384889634SCN8Ac.5813C>G (p.Thr1938Ser)
c.5690C>G (p.Thr1897Ser)
c.5846C>G (p.Thr1949Ser)
12g.51807299C>TCA384889633SCN8Ac.5813C>T (p.Thr1938Ile)
c.5690C>T (p.Thr1897Ile)
c.5846C>T (p.Thr1949Ile)
12g.51807300C>ACA480062355SCN8Ac.5814C>A (p.Thr1938=)
c.5691C>A (p.Thr1897=)
c.5847C>A (p.Thr1949=)
12g.51807300C>GCA480062357SCN8Ac.5814C>G (p.Thr1938=)
c.5691C>G (p.Thr1897=)
c.5847C>G (p.Thr1949=)
12g.51807300C>TCA480062356SCN8Ac.5814C>T (p.Thr1938=)
c.5691C>T (p.Thr1897=)
c.5847C>T (p.Thr1949=)
12g.51807301C>ACA384889635SCN8Ac.5815C>A (p.Pro1939Thr)
c.5692C>A (p.Pro1898Thr)
c.5848C>A (p.Pro1950Thr)
 COSMIC COSMIC
12g.51807301C>GCA384889637SCN8Ac.5815C>G (p.Pro1939Ala)
c.5692C>G (p.Pro1898Ala)
c.5848C>G (p.Pro1950Ala)
12g.51807301C>TCA384889639SCN8Ac.5815C>T (p.Pro1939Ser)
c.5692C>T (p.Pro1898Ser)
c.5848C>T (p.Pro1950Ser)
12g.51807302C>ACA384889644SCN8Ac.5816C>A (p.Pro1939Gln)
c.5693C>A (p.Pro1898Gln)
c.5849C>A (p.Pro1950Gln)
12g.51807302C=CA2036195030SCN8Ac.5816C= (p.Pro1939=)
c.5693C= (p.Pro1898=)
c.5849C= (p.Pro1950=)
12g.51807302C>GCA384889647SCN8Ac.5816C>G (p.Pro1939Arg)
c.5693C>G (p.Pro1898Arg)
c.5849C>G (p.Pro1950Arg)
12g.51807302C>TCA384889653SCN8Ac.5816C>T (p.Pro1939Leu)
c.5693C>T (p.Pro1898Leu)
c.5849C>T (p.Pro1950Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.51807303_51807305dupCA2618842382SCN8Ac.5817_5819dup (p.Ser1940_Thr1941insSer)
c.5694_5696dup (p.Ser1899_Thr1900insSer)
c.5850_5852dup (p.Ser1951_Thr1952insSer)
 gnomAD v4
12g.51807303A=CA2036195032SCN8Ac.5817A= (p.Pro1939=)
c.5694A= (p.Pro1898=)
c.5850A= (p.Pro1950=)
12g.51807303A>CCA480062358SCN8Ac.5817A>C (p.Pro1939=)
c.5694A>C (p.Pro1898=)
c.5850A>C (p.Pro1950=)
12g.51807303A>GCA480062359SCN8Ac.5817A>G (p.Pro1939=)
c.5694A>G (p.Pro1898=)
c.5850A>G (p.Pro1950=)
 dbSNP gnomAD v4
12g.51807303A>TCA480062360SCN8Ac.5817A>T (p.Pro1939=)
c.5694A>T (p.Pro1898=)
c.5850A>T (p.Pro1950=)
12g.51807304T>ACA384889657SCN8Ac.5818T>A (p.Ser1940Thr)
c.5695T>A (p.Ser1899Thr)
c.5851T>A (p.Ser1951Thr)
12g.51807304T>CCA384889661SCN8Ac.5818T>C (p.Ser1940Pro)
c.5695T>C (p.Ser1899Pro)
c.5851T>C (p.Ser1951Pro)
12g.51807304T>GCA384889659SCN8Ac.5818T>G (p.Ser1940Ala)
c.5695T>G (p.Ser1899Ala)
c.5851T>G (p.Ser1951Ala)
12g.51807305C>ACA384889664SCN8Ac.5819C>A (p.Ser1940Tyr)
c.5696C>A (p.Ser1899Tyr)
c.5852C>A (p.Ser1951Tyr)
 gnomAD v4
12g.51807305C>GCA384889666SCN8Ac.5819C>G (p.Ser1940Cys)
c.5696C>G (p.Ser1899Cys)
c.5852C>G (p.Ser1951Cys)
12g.51807305C>TCA384889667SCN8Ac.5819C>T (p.Ser1940Phe)
c.5696C>T (p.Ser1899Phe)
c.5852C>T (p.Ser1951Phe)
12g.51807306T>ACA480062365SCN8Ac.5820T>A (p.Ser1940=)
c.5697T>A (p.Ser1899=)
c.5853T>A (p.Ser1951=)
12g.51807306T>CCA480062366SCN8Ac.5820T>C (p.Ser1940=)
c.5697T>C (p.Ser1899=)
c.5853T>C (p.Ser1951=)
12g.51807306T>GCA480062367SCN8Ac.5820T>G (p.Ser1940=)
c.5697T>G (p.Ser1899=)
c.5853T>G (p.Ser1951=)
12g.51807307A>CCA384889676SCN8Ac.5821A>C (p.Thr1941Pro)
c.5698A>C (p.Thr1900Pro)
c.5854A>C (p.Thr1952Pro)
12g.51807307A>GCA384889678SCN8Ac.5821A>G (p.Thr1941Ala)
c.5698A>G (p.Thr1900Ala)
c.5854A>G (p.Thr1952Ala)
12g.51807307A>TCA384889681SCN8Ac.5821A>T (p.Thr1941Ser)
c.5698A>T (p.Thr1900Ser)
c.5854A>T (p.Thr1952Ser)
12g.51807308C>ACA384889683SCN8Ac.5822C>A (p.Thr1941Lys)
c.5699C>A (p.Thr1900Lys)
c.5855C>A (p.Thr1952Lys)
12g.51807308C>GCA384889686SCN8Ac.5822C>G (p.Thr1941Arg)
c.5699C>G (p.Thr1900Arg)
c.5855C>G (p.Thr1952Arg)
12g.51807308C>TCA384889687SCN8Ac.5822C>T (p.Thr1941Ile)
c.5699C>T (p.Thr1900Ile)
c.5855C>T (p.Thr1952Ile)
12g.51807309delCA2573148738SCN8Ac.5823del (p.Ala1942ProfsTer9)
c.5700del (p.Ala1901ProfsTer9)
c.5856del (p.Ala1953ProfsTer9)
 ClinVar dbSNP
12g.51807309A>CCA480062368SCN8Ac.5823A>C (p.Thr1941=)
c.5700A>C (p.Thr1900=)
c.5856A>C (p.Thr1952=)
 ClinVar
12g.51807309A>GCA480062369SCN8Ac.5823A>G (p.Thr1941=)
c.5700A>G (p.Thr1900=)
c.5856A>G (p.Thr1952=)
12g.51807309A>TCA480062370SCN8Ac.5823A>T (p.Thr1941=)
c.5700A>T (p.Thr1900=)
c.5856A>T (p.Thr1952=)
12g.51807310G>ACA384889688SCN8Ac.5824G>A (p.Ala1942Thr)
c.5701G>A (p.Ala1901Thr)
c.5857G>A (p.Ala1953Thr)
12g.51807310G>CCA384889689SCN8Ac.5824G>C (p.Ala1942Pro)
c.5701G>C (p.Ala1901Pro)
c.5857G>C (p.Ala1953Pro)
12g.51807310G>TCA384889691SCN8Ac.5824G>T (p.Ala1942Ser)
c.5701G>T (p.Ala1901Ser)
c.5857G>T (p.Ala1953Ser)
12g.51807311C>ACA384889695SCN8Ac.5825C>A (p.Ala1942Asp)
c.5702C>A (p.Ala1901Asp)
c.5858C>A (p.Ala1953Asp)
12g.51807311C=CA2036195036SCN8Ac.5825C= (p.Ala1942=)
c.5702C= (p.Ala1901=)
c.5858C= (p.Ala1953=)
12g.51807311C>GCA384889700SCN8Ac.5825C>G (p.Ala1942Gly)
c.5702C>G (p.Ala1901Gly)
c.5858C>G (p.Ala1953Gly)
 COSMIC COSMIC
12g.51807311C>TCA236327893SCN8Ac.5825C>T (p.Ala1942Val)
c.5702C>T (p.Ala1901Val)
c.5858C>T (p.Ala1953Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51807312C>ACA480062375SCN8Ac.5826C>A (p.Ala1942=)
c.5703C>A (p.Ala1901=)
c.5859C>A (p.Ala1953=)
12g.51807312C=CA2036195039SCN8Ac.5826C= (p.Ala1942=)
c.5703C= (p.Ala1901=)
c.5859C= (p.Ala1953=)
12g.51807312C>GCA6571958SCN8Ac.5826C>G (p.Ala1942=)
c.5703C>G (p.Ala1901=)
c.5859C>G (p.Ala1953=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51807312C>TCA480062377SCN8Ac.5826C>T (p.Ala1942=)
c.5703C>T (p.Ala1901=)
c.5859C>T (p.Ala1953=)
 gnomAD v4
12g.51807313T>ACA384889704SCN8Ac.5827T>A (p.Ser1943Thr)
c.5704T>A (p.Ser1902Thr)
c.5860T>A (p.Ser1954Thr)
12g.51807313T>CCA384889724SCN8Ac.5827T>C (p.Ser1943Pro)
c.5704T>C (p.Ser1902Pro)
c.5860T>C (p.Ser1954Pro)
12g.51807313T>GCA384889726SCN8Ac.5827T>G (p.Ser1943Ala)
c.5704T>G (p.Ser1902Ala)
c.5860T>G (p.Ser1954Ala)
12g.51807314C>ACA384889734SCN8Ac.5828C>A (p.Ser1943Tyr)
c.5705C>A (p.Ser1902Tyr)
c.5861C>A (p.Ser1954Tyr)
12g.51807314C>GCA384889736SCN8Ac.5828C>G (p.Ser1943Cys)
c.5705C>G (p.Ser1902Cys)
c.5861C>G (p.Ser1954Cys)
12g.51807314C>TCA384889746SCN8Ac.5828C>T (p.Ser1943Phe)
c.5705C>T (p.Ser1902Phe)
c.5861C>T (p.Ser1954Phe)
12g.51807314_51807315delinsTTCA645591096SCN8Ac.5828_5829delinsTT (p.Ser1943Phe)
c.5705_5706delinsTT (p.Ser1902Phe)
c.5861_5862delinsTT (p.Ser1954Phe)
 COSMIC COSMIC
12g.51807315C>ACA480062384SCN8Ac.5829C>A (p.Ser1943=)
c.5706C>A (p.Ser1902=)
c.5862C>A (p.Ser1954=)
12g.51807315C>GCA480062385SCN8Ac.5829C>G (p.Ser1943=)
c.5706C>G (p.Ser1902=)
c.5862C>G (p.Ser1954=)
12g.51807315C>TCA480062386SCN8Ac.5829C>T (p.Ser1943=)
c.5706C>T (p.Ser1902=)
c.5862C>T (p.Ser1954=)
 COSMIC COSMIC
12g.51807316C>ACA384889750SCN8Ac.5830C>A (p.Leu1944Ile)
c.5707C>A (p.Leu1903Ile)
c.5863C>A (p.Leu1955Ile)
12g.51807316C>GCA384889751SCN8Ac.5830C>G (p.Leu1944Val)
c.5707C>G (p.Leu1903Val)
c.5863C>G (p.Leu1955Val)
12g.51807316C>TCA384889752SCN8Ac.5830C>T (p.Leu1944Phe)
c.5707C>T (p.Leu1903Phe)
c.5863C>T (p.Leu1955Phe)
 gnomAD v4
12g.51807317T>ACA384889753SCN8Ac.5831T>A (p.Leu1944His)
c.5708T>A (p.Leu1903His)
c.5864T>A (p.Leu1955His)
12g.51807317T>CCA384889754SCN8Ac.5831T>C (p.Leu1944Pro)
c.5708T>C (p.Leu1903Pro)
c.5864T>C (p.Leu1955Pro)
12g.51807317T>GCA384889755SCN8Ac.5831T>G (p.Leu1944Arg)
c.5708T>G (p.Leu1903Arg)
c.5864T>G (p.Leu1955Arg)
12g.51807318C>ACA480062391SCN8Ac.5832C>A (p.Leu1944=)
c.5709C>A (p.Leu1903=)
c.5865C>A (p.Leu1955=)
 gnomAD v4
12g.51807318C=CA2036195041SCN8Ac.5832C= (p.Leu1944=)
c.5709C= (p.Leu1903=)
c.5865C= (p.Leu1955=)
12g.51807318C>GCA480062393SCN8Ac.5832C>G (p.Leu1944=)
c.5709C>G (p.Leu1903=)
c.5865C>G (p.Leu1955=)
 gnomAD v4
12g.51807318C>TCA480062394SCN8Ac.5832C>T (p.Leu1944=)
c.5709C>T (p.Leu1903=)
c.5865C>T (p.Leu1955=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.51807319C>ACA384889765SCN8Ac.5833C>A (p.Pro1945Thr)
c.5710C>A (p.Pro1904Thr)
c.5866C>A (p.Pro1956Thr)
12g.51807319C>GCA384889761SCN8Ac.5833C>G (p.Pro1945Ala)
c.5710C>G (p.Pro1904Ala)
c.5866C>G (p.Pro1956Ala)
12g.51807319C>TCA384889757SCN8Ac.5833C>T (p.Pro1945Ser)
c.5710C>T (p.Pro1904Ser)
c.5866C>T (p.Pro1956Ser)
12g.51807320C>ACA384889780SCN8Ac.5834C>A (p.Pro1945Gln)
c.5711C>A (p.Pro1904Gln)
c.5867C>A (p.Pro1956Gln)
12g.51807320C=CA2036195044SCN8Ac.5834C= (p.Pro1945=)
c.5711C= (p.Pro1904=)
c.5867C= (p.Pro1956=)
12g.51807320C>GCA384889782SCN8Ac.5834C>G (p.Pro1945Arg)
c.5711C>G (p.Pro1904Arg)
c.5867C>G (p.Pro1956Arg)
 gnomAD v4
12g.51807320C>TCA6571959SCN8Ac.5834C>T (p.Pro1945Leu)
c.5711C>T (p.Pro1904Leu)
c.5867C>T (p.Pro1956Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51807321G>ACA6571960SCN8Ac.5835G>A (p.Pro1945=)
c.5712G>A (p.Pro1904=)
c.5868G>A (p.Pro1956=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51807321G>CCA480062397SCN8Ac.5835G>C (p.Pro1945=)
c.5712G>C (p.Pro1904=)
c.5868G>C (p.Pro1956=)
12g.51807321G=CA2036195047SCN8Ac.5835G= (p.Pro1945=)
c.5712G= (p.Pro1904=)
c.5868G= (p.Pro1956=)
12g.51807321G>TCA480062396SCN8Ac.5835G>T (p.Pro1945=)
c.5712G>T (p.Pro1904=)
c.5868G>T (p.Pro1956=)
 ClinVar dbSNP gnomAD v4
12g.51807322T>ACA6571961SCN8Ac.5836T>A (p.Ser1946Thr)
c.5713T>A (p.Ser1905Thr)
c.5869T>A (p.Ser1957Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51807322T>CCA384889787SCN8Ac.5836T>C (p.Ser1946Pro)
c.5713T>C (p.Ser1905Pro)
c.5869T>C (p.Ser1957Pro)
12g.51807322T>GCA384889788SCN8Ac.5836T>G (p.Ser1946Ala)
c.5713T>G (p.Ser1905Ala)
c.5869T>G (p.Ser1957Ala)
12g.51807322T=CA2036195050SCN8Ac.5836T= (p.Ser1946=)
c.5713T= (p.Ser1905=)
c.5869T= (p.Ser1957=)
12g.51807323C>ACA384889792SCN8Ac.5837C>A (p.Ser1946Tyr)
c.5714C>A (p.Ser1905Tyr)
c.5870C>A (p.Ser1957Tyr)
12g.51807323C>GCA384889794SCN8Ac.5837C>G (p.Ser1946Cys)
c.5714C>G (p.Ser1905Cys)
c.5870C>G (p.Ser1957Cys)
12g.51807323C>TCA384889797SCN8Ac.5837C>T (p.Ser1946Phe)
c.5714C>T (p.Ser1905Phe)
c.5870C>T (p.Ser1957Phe)
12g.51807324C>ACA480062403SCN8Ac.5838C>A (p.Ser1946=)
c.5715C>A (p.Ser1905=)
c.5871C>A (p.Ser1957=)
12g.51807324C=CA2036195052SCN8Ac.5838C= (p.Ser1946=)
c.5715C= (p.Ser1905=)
c.5871C= (p.Ser1957=)
12g.51807324C>GCA480062402SCN8Ac.5838C>G (p.Ser1946=)
c.5715C>G (p.Ser1905=)
c.5871C>G (p.Ser1957=)
12g.51807324C>TCA6571962SCN8Ac.5838C>T (p.Ser1946=)
c.5715C>T (p.Ser1905=)
c.5871C>T (p.Ser1957=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51807325T>ACA384889811SCN8Ac.5839T>A (p.Tyr1947Asn)
c.5716T>A (p.Tyr1906Asn)
c.5872T>A (p.Tyr1958Asn)
12g.51807325T>CCA384889814SCN8Ac.5839T>C (p.Tyr1947His)
c.5716T>C (p.Tyr1906His)
c.5872T>C (p.Tyr1958His)
12g.51807325T>GCA384889822SCN8Ac.5839T>G (p.Tyr1947Asp)
c.5716T>G (p.Tyr1906Asp)
c.5872T>G (p.Tyr1958Asp)
 gnomAD v4
12g.51807326A>CCA384889837SCN8Ac.5840A>C (p.Tyr1947Ser)
c.5717A>C (p.Tyr1906Ser)
c.5873A>C (p.Tyr1958Ser)
12g.51807326A>GCA384889830SCN8Ac.5840A>G (p.Tyr1947Cys)
c.5717A>G (p.Tyr1906Cys)
c.5873A>G (p.Tyr1958Cys)
 ClinVar
12g.51807326A>TCA384889826SCN8Ac.5840A>T (p.Tyr1947Phe)
c.5717A>T (p.Tyr1906Phe)
c.5873A>T (p.Tyr1958Phe)
12g.51807327T>ACA384889840SCN8Ac.5841T>A (p.Tyr1947Ter)
c.5718T>A (p.Tyr1906Ter)
c.5874T>A (p.Tyr1958Ter)
12g.51807327T>CCA480062410SCN8Ac.5841T>C (p.Tyr1947=)
c.5718T>C (p.Tyr1906=)
c.5874T>C (p.Tyr1958=)
 ClinVar dbSNP gnomAD v4
12g.51807327T>GCA384889841SCN8Ac.5841T>G (p.Tyr1947Ter)
c.5718T>G (p.Tyr1906Ter)
c.5874T>G (p.Tyr1958Ter)
12g.51807327T=CA2036195062SCN8Ac.5841T= (p.Tyr1947=)
c.5718T= (p.Tyr1906=)
c.5874T= (p.Tyr1958=)
12g.51807328G>ACA384889842SCN8Ac.5842G>A (p.Asp1948Asn)
c.5719G>A (p.Asp1907Asn)
c.5875G>A (p.Asp1959Asn)
12g.51807328G>CCA384889843SCN8Ac.5842G>C (p.Asp1948His)
c.5719G>C (p.Asp1907His)
c.5875G>C (p.Asp1959His)
 COSMIC COSMIC
12g.51807328G>TCA384889846SCN8Ac.5842G>T (p.Asp1948Tyr)
c.5719G>T (p.Asp1907Tyr)
c.5875G>T (p.Asp1959Tyr)
12g.51807329A>CCA384889851SCN8Ac.5843A>C (p.Asp1948Ala)
c.5720A>C (p.Asp1907Ala)
c.5876A>C (p.Asp1959Ala)
 gnomAD v4
12g.51807329A>GCA384889856SCN8Ac.5843A>G (p.Asp1948Gly)
c.5720A>G (p.Asp1907Gly)
c.5876A>G (p.Asp1959Gly)
12g.51807329A>TCA384889858SCN8Ac.5843A>T (p.Asp1948Val)
c.5720A>T (p.Asp1907Val)
c.5876A>T (p.Asp1959Val)
12g.51807330C>ACA384889861SCN8Ac.5844C>A (p.Asp1948Glu)
c.5721C>A (p.Asp1907Glu)
c.5877C>A (p.Asp1959Glu)
12g.51807330C>GCA384889864SCN8Ac.5844C>G (p.Asp1948Glu)
c.5721C>G (p.Asp1907Glu)
c.5877C>G (p.Asp1959Glu)
12g.51807330C>TCA480062413SCN8Ac.5844C>T (p.Asp1948=)
c.5721C>T (p.Asp1907=)
c.5877C>T (p.Asp1959=)
 gnomAD v4
12g.51807331A>CCA384889869SCN8Ac.5845A>C (p.Ser1949Arg)
c.5722A>C (p.Ser1908Arg)
c.5878A>C (p.Ser1960Arg)
12g.51807331A>GCA384889872SCN8Ac.5845A>G (p.Ser1949Gly)
c.5722A>G (p.Ser1908Gly)
c.5878A>G (p.Ser1960Gly)
12g.51807331A>TCA384889876SCN8Ac.5845A>T (p.Ser1949Cys)
c.5722A>T (p.Ser1908Cys)
c.5878A>T (p.Ser1960Cys)
12g.51807332G>ACA384889887SCN8Ac.5846G>A (p.Ser1949Asn)
c.5723G>A (p.Ser1908Asn)
c.5879G>A (p.Ser1960Asn)
 dbSNP gnomAD v2
12g.51807332G>CCA384889877SCN8Ac.5846G>C (p.Ser1949Thr)
c.5723G>C (p.Ser1908Thr)
c.5879G>C (p.Ser1960Thr)
12g.51807332G=CA2036195065SCN8Ac.5846G= (p.Ser1949=)
c.5723G= (p.Ser1908=)
c.5879G= (p.Ser1960=)
12g.51807332G>TCA384889878SCN8Ac.5846G>T (p.Ser1949Ile)
c.5723G>T (p.Ser1908Ile)
c.5879G>T (p.Ser1960Ile)
12g.51807333T>ACA384889892SCN8Ac.5847T>A (p.Ser1949Arg)
c.5724T>A (p.Ser1908Arg)
c.5880T>A (p.Ser1960Arg)
12g.51807333T>CCA6571963SCN8Ac.5847T>C (p.Ser1949=)
c.5724T>C (p.Ser1908=)
c.5880T>C (p.Ser1960=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51807333T>GCA384889895SCN8Ac.5847T>G (p.Ser1949Arg)
c.5724T>G (p.Ser1908Arg)
c.5880T>G (p.Ser1960Arg)
12g.51807333T=CA2036195071SCN8Ac.5847T= (p.Ser1949=)
c.5724T= (p.Ser1908=)
c.5880T= (p.Ser1960=)
12g.51807334G>ACA384889896SCN8Ac.5848G>A (p.Val1950Ile)
c.5725G>A (p.Val1909Ile)
c.5881G>A (p.Val1961Ile)
 ClinVar gnomAD v4
12g.51807334G>CCA384889897SCN8Ac.5848G>C (p.Val1950Leu)
c.5725G>C (p.Val1909Leu)
c.5881G>C (p.Val1961Leu)
12g.51807334G>TCA384889899SCN8Ac.5848G>T (p.Val1950Leu)
c.5725G>T (p.Val1909Leu)
c.5881G>T (p.Val1961Leu)
12g.51807335T>ACA384889903SCN8Ac.5849T>A (p.Val1950Glu)
c.5726T>A (p.Val1909Glu)
c.5882T>A (p.Val1961Glu)
12g.51807335T>CCA384889907SCN8Ac.5849T>C (p.Val1950Ala)
c.5726T>C (p.Val1909Ala)
c.5882T>C (p.Val1961Ala)
12g.51807335T>GCA384889910SCN8Ac.5849T>G (p.Val1950Gly)
c.5726T>G (p.Val1909Gly)
c.5882T>G (p.Val1961Gly)
12g.51807336A=CA2036195078SCN8Ac.5850A= (p.Val1950=)
c.5727A= (p.Val1909=)
c.5883A= (p.Val1961=)
12g.51807336A>CCA480062427SCN8Ac.5850A>C (p.Val1950=)
c.5727A>C (p.Val1909=)
c.5883A>C (p.Val1961=)
12g.51807336A>GCA480062430SCN8Ac.5850A>G (p.Val1950=)
c.5727A>G (p.Val1909=)
c.5883A>G (p.Val1961=)
 dbSNP gnomAD v2
12g.51807336A>TCA480062429SCN8Ac.5850A>T (p.Val1950=)
c.5727A>T (p.Val1909=)
c.5883A>T (p.Val1961=)
12g.51807337A>CCA384889924SCN8Ac.5851A>C (p.Thr1951Pro)
c.5728A>C (p.Thr1910Pro)
c.5884A>C (p.Thr1962Pro)
12g.51807337A>GCA384889925SCN8Ac.5851A>G (p.Thr1951Ala)
c.5728A>G (p.Thr1910Ala)
c.5884A>G (p.Thr1962Ala)
12g.51807337A>TCA384889926SCN8Ac.5851A>T (p.Thr1951Ser)
c.5728A>T (p.Thr1910Ser)
c.5884A>T (p.Thr1962Ser)
12g.51807338C>ACA384889929SCN8Ac.5852C>A (p.Thr1951Asn)
c.5729C>A (p.Thr1910Asn)
c.5885C>A (p.Thr1962Asn)
12g.51807338C>GCA384889934SCN8Ac.5852C>G (p.Thr1951Ser)
c.5729C>G (p.Thr1910Ser)
c.5885C>G (p.Thr1962Ser)
 ClinVar dbSNP
12g.51807338C>TCA384889931SCN8Ac.5852C>T (p.Thr1951Ile)
c.5729C>T (p.Thr1910Ile)
c.5885C>T (p.Thr1962Ile)
12g.51807339T>ACA480062439SCN8Ac.5853T>A (p.Thr1951=)
c.5730T>A (p.Thr1910=)
c.5886T>A (p.Thr1962=)
12g.51807339T>CCA480062441SCN8Ac.5853T>C (p.Thr1951=)
c.5730T>C (p.Thr1910=)
c.5886T>C (p.Thr1962=)
12g.51807339T>GCA480062443SCN8Ac.5853T>G (p.Thr1951=)
c.5730T>G (p.Thr1910=)
c.5886T>G (p.Thr1962=)
12g.51807340A=CA2036195082SCN8Ac.5854A= (p.Lys1952=)
c.5731A= (p.Lys1911=)
c.5887A= (p.Lys1963=)
12g.51807340A>CCA384889938SCN8Ac.5854A>C (p.Lys1952Gln)
c.5731A>C (p.Lys1911Gln)
c.5887A>C (p.Lys1963Gln)
12g.51807340A>GCA384889946SCN8Ac.5854A>G (p.Lys1952Glu)
c.5731A>G (p.Lys1911Glu)
c.5887A>G (p.Lys1963Glu)
12g.51807340A>TCA384889942SCN8Ac.5854A>T (p.Lys1952Ter)
c.5731A>T (p.Lys1911Ter)
c.5887A>T (p.Lys1963Ter)
 dbSNP
12g.51807341A>CCA384889963SCN8Ac.5855A>C (p.Lys1952Thr)
c.5732A>C (p.Lys1911Thr)
c.5888A>C (p.Lys1963Thr)
12g.51807341A>GCA384889965SCN8Ac.5855A>G (p.Lys1952Arg)
c.5732A>G (p.Lys1911Arg)
c.5888A>G (p.Lys1963Arg)
12g.51807341A>TCA384889966SCN8Ac.5855A>T (p.Lys1952Ile)
c.5732A>T (p.Lys1911Ile)
c.5888A>T (p.Lys1963Ile)
12g.51807342A>CCA384889969SCN8Ac.5856A>C (p.Lys1952Asn)
c.5733A>C (p.Lys1911Asn)
c.5889A>C (p.Lys1963Asn)
12g.51807342A>GCA480062450SCN8Ac.5856A>G (p.Lys1952=)
c.5733A>G (p.Lys1911=)
c.5889A>G (p.Lys1963=)
 gnomAD v4
12g.51807342A>TCA384889971SCN8Ac.5856A>T (p.Lys1952Asn)
c.5733A>T (p.Lys1911Asn)
c.5889A>T (p.Lys1963Asn)
12g.51807343C>ACA384889974SCN8Ac.5857C>A (p.Pro1953Thr)
c.5734C>A (p.Pro1912Thr)
c.5890C>A (p.Pro1964Thr)
12g.51807343C>GCA384889975SCN8Ac.5857C>G (p.Pro1953Ala)
c.5734C>G (p.Pro1912Ala)
c.5890C>G (p.Pro1964Ala)
12g.51807343C>TCA384889976SCN8Ac.5857C>T (p.Pro1953Ser)
c.5734C>T (p.Pro1912Ser)
c.5890C>T (p.Pro1964Ser)
12g.51807344C>ACA384889977SCN8Ac.5858C>A (p.Pro1953His)
c.5735C>A (p.Pro1912His)
c.5891C>A (p.Pro1964His)
12g.51807344C>GCA384889979SCN8Ac.5858C>G (p.Pro1953Arg)
c.5735C>G (p.Pro1912Arg)
c.5891C>G (p.Pro1964Arg)
12g.51807344C>TCA384889982SCN8Ac.5858C>T (p.Pro1953Leu)
c.5735C>T (p.Pro1912Leu)
c.5891C>T (p.Pro1964Leu)
 gnomAD v4 COSMIC COSMIC
12g.51807345T>ACA480062459SCN8Ac.5859T>A (p.Pro1953=)
c.5736T>A (p.Pro1912=)
c.5892T>A (p.Pro1964=)
12g.51807345T>CCA480062461SCN8Ac.5859T>C (p.Pro1953=)
c.5736T>C (p.Pro1912=)
c.5892T>C (p.Pro1964=)
12g.51807345T>GCA480062456SCN8Ac.5859T>G (p.Pro1953=)
c.5736T>G (p.Pro1912=)
c.5892T>G (p.Pro1964=)
 gnomAD v4
12g.51807346G>ACA384889994SCN8Ac.5860G>A (p.Glu1954Lys)
c.5737G>A (p.Glu1913Lys)
c.5893G>A (p.Glu1965Lys)
12g.51807346G>CCA384889985SCN8Ac.5860G>C (p.Glu1954Gln)
c.5737G>C (p.Glu1913Gln)
c.5893G>C (p.Glu1965Gln)
12g.51807346G=CA2036195086SCN8Ac.5860G= (p.Glu1954=)
c.5737G= (p.Glu1913=)
c.5893G= (p.Glu1965=)
12g.51807346G>TCA384889991SCN8Ac.5860G>T (p.Glu1954Ter)
c.5737G>T (p.Glu1913Ter)
c.5893G>T (p.Glu1965Ter)
 dbSNP
12g.51807346_51807347delinsGACA2036195093SCN8Ac.5860_5861delinsGA (p.Glu1954=)
c.5737_5738delinsGA (p.Glu1913=)
c.5893_5894delinsGA (p.Glu1965=)
12g.51807347A>CCA384890002SCN8Ac.5861A>C (p.Glu1954Ala)
c.5738A>C (p.Glu1913Ala)
c.5894A>C (p.Glu1965Ala)
12g.51807347A>GCA384890005SCN8Ac.5861A>G (p.Glu1954Gly)
c.5738A>G (p.Glu1913Gly)
c.5894A>G (p.Glu1965Gly)
12g.51807347A>TCA384890013SCN8Ac.5861A>T (p.Glu1954Val)
c.5738A>T (p.Glu1913Val)
c.5894A>T (p.Glu1965Val)
12g.51807350delCA689783879SCN8Ac.5864del (p.Lys1955ArgfsTer?)
c.5741del (p.Lys1914ArgfsTer?)
c.5897del (p.Lys1966ArgfsTer?)
 dbSNP gnomAD v3 gnomAD v4
12g.51807348A>CCA384890016SCN8Ac.5862A>C (p.Glu1954Asp)
c.5739A>C (p.Glu1913Asp)
c.5895A>C (p.Glu1965Asp)
12g.51807348A>GCA480062469SCN8Ac.5862A>G (p.Glu1954=)
c.5739A>G (p.Glu1913=)
c.5895A>G (p.Glu1965=)
12g.51807348A>TCA384890019SCN8Ac.5862A>T (p.Glu1954Asp)
c.5739A>T (p.Glu1913Asp)
c.5895A>T (p.Glu1965Asp)
12g.51807349A=CA2036195099SCN8Ac.5863A= (p.Lys1955=)
c.5740A= (p.Lys1914=)
c.5896A= (p.Lys1966=)
12g.51807349A>CCA384890023SCN8Ac.5863A>C (p.Lys1955Gln)
c.5740A>C (p.Lys1914Gln)
c.5896A>C (p.Lys1966Gln)
12g.51807349A>GCA384890025SCN8Ac.5863A>G (p.Lys1955Glu)
c.5740A>G (p.Lys1914Glu)
c.5896A>G (p.Lys1966Glu)
 gnomAD v4
12g.51807349A>TCA384890027SCN8Ac.5863A>T (p.Lys1955Ter)
c.5740A>T (p.Lys1914Ter)
c.5896A>T (p.Lys1966Ter)
 dbSNP
12g.51807350A=CA2036195100SCN8Ac.5864A= (p.Lys1955=)
c.5741A= (p.Lys1914=)
c.5897A= (p.Lys1966=)
12g.51807350A>CCA384890029SCN8Ac.5864A>C (p.Lys1955Thr)
c.5741A>C (p.Lys1914Thr)
c.5897A>C (p.Lys1966Thr)
12g.51807350A>GCA384890031SCN8Ac.5864A>G (p.Lys1955Arg)
c.5741A>G (p.Lys1914Arg)
c.5897A>G (p.Lys1966Arg)
12g.51807350A>TCA384890035SCN8Ac.5864A>T (p.Lys1955Met)
c.5741A>T (p.Lys1914Met)
c.5897A>T (p.Lys1966Met)
 dbSNP
12g.51807351G>ACA480062478SCN8Ac.5865G>A (p.Lys1955=)
c.5742G>A (p.Lys1914=)
c.5898G>A (p.Lys1966=)
 dbSNP gnomAD v3 gnomAD v4
12g.51807351G>CCA384890040SCN8Ac.5865G>C (p.Lys1955Asn)
c.5742G>C (p.Lys1914Asn)
c.5898G>C (p.Lys1966Asn)
12g.51807351G=CA2036195103SCN8Ac.5865G= (p.Lys1955=)
c.5742G= (p.Lys1914=)
c.5898G= (p.Lys1966=)
12g.51807351G>TCA384890038SCN8Ac.5865G>T (p.Lys1955Asn)
c.5742G>T (p.Lys1914Asn)
c.5898G>T (p.Lys1966Asn)
 COSMIC
12g.51807352G>ACA384890044SCN8Ac.5866G>A (p.Glu1956Lys)
c.5743G>A (p.Glu1915Lys)
c.5899G>A (p.Glu1967Lys)
 gnomAD v4
12g.51807352G>CCA384890052SCN8Ac.5866G>C (p.Glu1956Gln)
c.5743G>C (p.Glu1915Gln)
c.5899G>C (p.Glu1967Gln)
12g.51807352G=CA2036195105SCN8Ac.5866G= (p.Glu1956=)
c.5743G= (p.Glu1915=)
c.5899G= (p.Glu1967=)
12g.51807352G>TCA384890055SCN8Ac.5866G>T (p.Glu1956Ter)
c.5743G>T (p.Glu1915Ter)
c.5899G>T (p.Glu1967Ter)
 dbSNP
12g.51807353A>CCA384890068SCN8Ac.5867A>C (p.Glu1956Ala)
c.5744A>C (p.Glu1915Ala)
c.5900A>C (p.Glu1967Ala)
12g.51807353A>GCA384890069SCN8Ac.5867A>G (p.Glu1956Gly)
c.5744A>G (p.Glu1915Gly)
c.5900A>G (p.Glu1967Gly)
12g.51807353A>TCA384890072SCN8Ac.5867A>T (p.Glu1956Val)
c.5744A>T (p.Glu1915Val)
c.5900A>T (p.Glu1967Val)

Number of alleles fetched