Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
12g.51807354G>ACA480062485SCN8Ac.5868G>A (p.Glu1956=)
c.5745G>A (p.Glu1915=)
c.5901G>A (p.Glu1967=)
12g.51807354G>CCA384890077SCN8Ac.5868G>C (p.Glu1956Asp)
c.5745G>C (p.Glu1915Asp)
c.5901G>C (p.Glu1967Asp)
12g.51807354G>TCA384890081SCN8Ac.5868G>T (p.Glu1956Asp)
c.5745G>T (p.Glu1915Asp)
c.5901G>T (p.Glu1967Asp)
12g.51807355A=CA2036195109SCN8Ac.5869A= (p.Lys1957=)
c.5746A= (p.Lys1916=)
c.5902A= (p.Lys1968=)
12g.51807355A>CCA384890086SCN8Ac.5869A>C (p.Lys1957Gln)
c.5746A>C (p.Lys1916Gln)
c.5902A>C (p.Lys1968Gln)
 dbSNP gnomAD v4
12g.51807355A>GCA384890089SCN8Ac.5869A>G (p.Lys1957Glu)
c.5746A>G (p.Lys1916Glu)
c.5902A>G (p.Lys1968Glu)
12g.51807355A>TCA384890092SCN8Ac.5869A>T (p.Lys1957Ter)
c.5746A>T (p.Lys1916Ter)
c.5902A>T (p.Lys1968Ter)
 dbSNP
12g.51807355_51807356insCCA236327948SCN8Ac.5869_5870insC (p.Lys1957ThrfsTer?)
c.5746_5747insC (p.Lys1916ThrfsTer?)
c.5902_5903insC (p.Lys1968ThrfsTer?)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.51807356A>CCA384890108SCN8Ac.5870A>C (p.Lys1957Thr)
c.5747A>C (p.Lys1916Thr)
c.5903A>C (p.Lys1968Thr)
12g.51807356A>GCA384890103SCN8Ac.5870A>G (p.Lys1957Arg)
c.5747A>G (p.Lys1916Arg)
c.5903A>G (p.Lys1968Arg)
12g.51807356A>TCA384890101SCN8Ac.5870A>T (p.Lys1957Ile)
c.5747A>T (p.Lys1916Ile)
c.5903A>T (p.Lys1968Ile)
12g.51807357A>CCA384890135SCN8Ac.5871A>C (p.Lys1957Asn)
c.5748A>C (p.Lys1916Asn)
c.5904A>C (p.Lys1968Asn)
12g.51807357A>GCA480062490SCN8Ac.5871A>G (p.Lys1957=)
c.5748A>G (p.Lys1916=)
c.5904A>G (p.Lys1968=)
12g.51807357A>TCA384890138SCN8Ac.5871A>T (p.Lys1957Asn)
c.5748A>T (p.Lys1916Asn)
c.5904A>T (p.Lys1968Asn)
12g.51807358C>ACA384890141SCN8Ac.5872C>A (p.Gln1958Lys)
c.5749C>A (p.Gln1917Lys)
c.5905C>A (p.Gln1969Lys)
12g.51807358C=CA2036195125SCN8Ac.5872C= (p.Gln1958=)
c.5749C= (p.Gln1917=)
c.5905C= (p.Gln1969=)
12g.51807358C>GCA384890143SCN8Ac.5872C>G (p.Gln1958Glu)
c.5749C>G (p.Gln1917Glu)
c.5905C>G (p.Gln1969Glu)
12g.51807358C>TCA384890145SCN8Ac.5872C>T (p.Gln1958Ter)
c.5749C>T (p.Gln1917Ter)
c.5905C>T (p.Gln1969Ter)
 ClinVar dbSNP gnomAD v4
12g.51807362_51807364delCA2618842391SCN8Ac.5876_5878del (p.Gln1959del)
c.5753_5755del (p.Gln1918del)
c.5909_5911del (p.Gln1970del)
 gnomAD v4
12g.51807359A>CCA384890154SCN8Ac.5873A>C (p.Gln1958Pro)
c.5750A>C (p.Gln1917Pro)
c.5906A>C (p.Gln1969Pro)
12g.51807359A>GCA384890149SCN8Ac.5873A>G (p.Gln1958Arg)
c.5750A>G (p.Gln1917Arg)
c.5906A>G (p.Gln1969Arg)
12g.51807359A>TCA384890152SCN8Ac.5873A>T (p.Gln1958Leu)
c.5750A>T (p.Gln1917Leu)
c.5906A>T (p.Gln1969Leu)
12g.51807360G>ACA480062493SCN8Ac.5874G>A (p.Gln1958=)
c.5751G>A (p.Gln1917=)
c.5907G>A (p.Gln1969=)
 dbSNP
12g.51807360G>CCA384890159SCN8Ac.5874G>C (p.Gln1958His)
c.5751G>C (p.Gln1917His)
c.5907G>C (p.Gln1969His)
12g.51807360G>TCA384890162SCN8Ac.5874G>T (p.Gln1958His)
c.5751G>T (p.Gln1917His)
c.5907G>T (p.Gln1969His)
12g.51807361C>ACA384890164SCN8Ac.5875C>A (p.Gln1959Lys)
c.5752C>A (p.Gln1918Lys)
c.5908C>A (p.Gln1970Lys)
12g.51807361C>GCA384890166SCN8Ac.5875C>G (p.Gln1959Glu)
c.5752C>G (p.Gln1918Glu)
c.5908C>G (p.Gln1970Glu)
12g.51807361C>TCA384890168SCN8Ac.5875C>T (p.Gln1959Ter)
c.5752C>T (p.Gln1918Ter)
c.5908C>T (p.Gln1970Ter)
12g.51807362A>CCA384890183SCN8Ac.5876A>C (p.Gln1959Pro)
c.5753A>C (p.Gln1918Pro)
c.5909A>C (p.Gln1970Pro)
12g.51807362A>GCA384890181SCN8Ac.5876A>G (p.Gln1959Arg)
c.5753A>G (p.Gln1918Arg)
c.5909A>G (p.Gln1970Arg)
12g.51807362A>TCA384890172SCN8Ac.5876A>T (p.Gln1959Leu)
c.5753A>T (p.Gln1918Leu)
c.5909A>T (p.Gln1970Leu)
12g.51807363G>ACA480062501SCN8Ac.5877G>A (p.Gln1959=)
c.5754G>A (p.Gln1918=)
c.5910G>A (p.Gln1970=)
12g.51807363G>CCA384890205SCN8Ac.5877G>C (p.Gln1959His)
c.5754G>C (p.Gln1918His)
c.5910G>C (p.Gln1970His)
12g.51807363G>TCA384890208SCN8Ac.5877G>T (p.Gln1959His)
c.5754G>T (p.Gln1918His)
c.5910G>T (p.Gln1970His)
12g.51807364C>ACA480062505SCN8Ac.5878C>A (p.Arg1960=)
c.5755C>A (p.Arg1919=)
c.5911C>A (p.Arg1971=)
 gnomAD v4
12g.51807364C=CA2036195129SCN8Ac.5878C= (p.Arg1960=)
c.5755C= (p.Arg1919=)
c.5911C= (p.Arg1971=)
12g.51807364C>GCA384890214SCN8Ac.5878C>G (p.Arg1960Gly)
c.5755C>G (p.Arg1919Gly)
c.5911C>G (p.Arg1971Gly)
12g.51807364C>TCA236327953SCN8Ac.5878C>T (p.Arg1960Trp)
c.5755C>T (p.Arg1919Trp)
c.5911C>T (p.Arg1971Trp)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.51807365G>ACA318309SCN8Ac.5879G>A (p.Arg1960Gln)
c.5756G>A (p.Arg1919Gln)
c.5912G>A (p.Arg1971Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51807365G>CCA384890218SCN8Ac.5879G>C (p.Arg1960Pro)
c.5756G>C (p.Arg1919Pro)
c.5912G>C (p.Arg1971Pro)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
12g.51807365G=CA2036195134SCN8Ac.5879G= (p.Arg1960=)
c.5756G= (p.Arg1919=)
c.5912G= (p.Arg1971=)
12g.51807365G>TCA6571964SCN8Ac.5879G>T (p.Arg1960Leu)
c.5756G>T (p.Arg1919Leu)
c.5912G>T (p.Arg1971Leu)
 ClinVar dbSNP ExAC gnomAD v4
12g.51807366G>ACA480062508SCN8Ac.5880G>A (p.Arg1960=)
c.5757G>A (p.Arg1919=)
c.5913G>A (p.Arg1971=)
12g.51807366G>CCA480062509SCN8Ac.5880G>C (p.Arg1960=)
c.5757G>C (p.Arg1919=)
c.5913G>C (p.Arg1971=)
12g.51807366G>TCA480062510SCN8Ac.5880G>T (p.Arg1960=)
c.5757G>T (p.Arg1919=)
c.5913G>T (p.Arg1971=)
12g.51807367G>ACA384890219SCN8Ac.5881G>A (p.Ala1961Thr)
c.5758G>A (p.Ala1920Thr)
c.5914G>A (p.Ala1972Thr)
12g.51807367G>CCA384890223SCN8Ac.5881G>C (p.Ala1961Pro)
c.5758G>C (p.Ala1920Pro)
c.5914G>C (p.Ala1972Pro)
12g.51807367G=CA2036195146SCN8Ac.5881G= (p.Ala1961=)
c.5758G= (p.Ala1920=)
c.5914G= (p.Ala1972=)
12g.51807367G>TCA384890225SCN8Ac.5881G>T (p.Ala1961Ser)
c.5758G>T (p.Ala1920Ser)
c.5914G>T (p.Ala1972Ser)
 dbSNP gnomAD v3 gnomAD v4
12g.51807368C>ACA384890228SCN8Ac.5882C>A (p.Ala1961Glu)
c.5759C>A (p.Ala1920Glu)
c.5915C>A (p.Ala1972Glu)
12g.51807368C>GCA384890238SCN8Ac.5882C>G (p.Ala1961Gly)
c.5759C>G (p.Ala1920Gly)
c.5915C>G (p.Ala1972Gly)
12g.51807368C>TCA384890244SCN8Ac.5882C>T (p.Ala1961Val)
c.5759C>T (p.Ala1920Val)
c.5915C>T (p.Ala1972Val)
 gnomAD v4 COSMIC COSMIC
12g.51807369A=CA2036195157SCN8Ac.5883A= (p.Ala1961=)
c.5760A= (p.Ala1920=)
c.5916A= (p.Ala1972=)
12g.51807369A>CCA480062512SCN8Ac.5883A>C (p.Ala1961=)
c.5760A>C (p.Ala1920=)
c.5916A>C (p.Ala1972=)
12g.51807369A>GCA6571965SCN8Ac.5883A>G (p.Ala1961=)
c.5760A>G (p.Ala1920=)
c.5916A>G (p.Ala1972=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51807369A>TCA480062518SCN8Ac.5883A>T (p.Ala1961=)
c.5760A>T (p.Ala1920=)
c.5916A>T (p.Ala1972=)
12g.51807369_51807373delinsAGAGGCA2036195155SCN8Ac.5883_5887delinsAGAGG (p.Ala1961=)
c.5760_5764delinsAGAGG (p.Ala1920=)
c.5916_5920delinsAGAGG (p.Ala1972=)
12g.51807370G>ACA384890248SCN8Ac.5884G>A (p.Glu1962Lys)
c.5761G>A (p.Glu1921Lys)
c.5917G>A (p.Glu1973Lys)
12g.51807370G>CCA384890251SCN8Ac.5884G>C (p.Glu1962Gln)
c.5761G>C (p.Glu1921Gln)
c.5917G>C (p.Glu1973Gln)
12g.51807370G=CA2036195162SCN8Ac.5884G= (p.Glu1962=)
c.5761G= (p.Glu1921=)
c.5917G= (p.Glu1973=)
12g.51807370G>TCA384890253SCN8Ac.5884G>T (p.Glu1962Ter)
c.5761G>T (p.Glu1921Ter)
c.5917G>T (p.Glu1973Ter)
 dbSNP
12g.51807370_51807373delCA2036195164SCN8Ac.5884_5887del (p.Glu1962LysfsTer30)
c.5761_5764del (p.Glu1921LysfsTer30)
c.5761_5764del (p.Glu1921LysfsTer?)
c.5917_5920del (p.Glu1973LysfsTer?)
c.5884_5887del (p.Glu1962LysfsTer?)
 dbSNP
12g.51807370_51807374delinsGAGGACA2036195163SCN8Ac.5884_5888delinsGAGGA (p.Glu1962=)
c.5761_5765delinsGAGGA (p.Glu1921=)
c.5917_5921delinsGAGGA (p.Glu1973=)
12g.51807371A=CA2036195179SCN8Ac.5885A= (p.Glu1962=)
c.5762A= (p.Glu1921=)
c.5918A= (p.Glu1973=)
12g.51807371A>CCA384890254SCN8Ac.5885A>C (p.Glu1962Ala)
c.5762A>C (p.Glu1921Ala)
c.5918A>C (p.Glu1973Ala)
12g.51807371A>GCA384890257SCN8Ac.5885A>G (p.Glu1962Gly)
c.5762A>G (p.Glu1921Gly)
c.5918A>G (p.Glu1973Gly)
 gnomAD v4
12g.51807371A>TCA384890255SCN8Ac.5885A>T (p.Glu1962Val)
c.5762A>T (p.Glu1921Val)
c.5918A>T (p.Glu1973Val)
 dbSNP gnomAD v2 gnomAD v4
12g.51807371_51807372delinsAGCA2036195176SCN8Ac.5885_5886delinsAG (p.Glu1962=)
c.5762_5763delinsAG (p.Glu1921=)
c.5918_5919delinsAG (p.Glu1973=)
12g.51807377_51807380delCA658797918SCN8Ac.5891_5894del (p.Gly1964GlufsTer28)
c.5768_5771del (p.Gly1923GlufsTer28)
c.5768_5771del (p.Gly1923GlufsTer?)
c.5924_5927del (p.Gly1975GlufsTer?)
c.5891_5894del (p.Gly1964GlufsTer?)
 ClinVar dbSNP
12g.51807372G>ACA480062525SCN8Ac.5886G>A (p.Glu1962=)
c.5763G>A (p.Glu1921=)
c.5919G>A (p.Glu1973=)
12g.51807372G>CCA384890259SCN8Ac.5886G>C (p.Glu1962Asp)
c.5763G>C (p.Glu1921Asp)
c.5919G>C (p.Glu1973Asp)
12g.51807372G>TCA384890261SCN8Ac.5886G>T (p.Glu1962Asp)
c.5763G>T (p.Glu1921Asp)
c.5919G>T (p.Glu1973Asp)
12g.51807373delCA689783942SCN8Ac.5887del (p.Glu1963LysfsTer30)
c.5764del (p.Glu1922LysfsTer30)
c.5764del (p.Glu1922LysfsTer?)
c.5920del (p.Glu1974LysfsTer?)
c.5887del (p.Glu1963LysfsTer?)
 dbSNP
12g.51807373G>ACA16042906SCN8Ac.5887G>A (p.Glu1963Lys)
c.5764G>A (p.Glu1922Lys)
c.5920G>A (p.Glu1974Lys)
 ClinVar dbSNP COSMIC COSMIC
12g.51807373G>CCA384890266SCN8Ac.5887G>C (p.Glu1963Gln)
c.5764G>C (p.Glu1922Gln)
c.5920G>C (p.Glu1974Gln)
12g.51807373G=CA2036195189SCN8Ac.5887G= (p.Glu1963=)
c.5764G= (p.Glu1922=)
c.5920G= (p.Glu1974=)
12g.51807373G>TCA384890269SCN8Ac.5887G>T (p.Glu1963Ter)
c.5764G>T (p.Glu1922Ter)
c.5920G>T (p.Glu1974Ter)
 dbSNP
12g.51807374A>CCA384890276SCN8Ac.5888A>C (p.Glu1963Ala)
c.5765A>C (p.Glu1922Ala)
c.5921A>C (p.Glu1974Ala)
12g.51807374A>GCA384890278SCN8Ac.5888A>G (p.Glu1963Gly)
c.5765A>G (p.Glu1922Gly)
c.5921A>G (p.Glu1974Gly)
12g.51807374A>TCA384890283SCN8Ac.5888A>T (p.Glu1963Val)
c.5765A>T (p.Glu1922Val)
c.5921A>T (p.Glu1974Val)
12g.51807375A=CA2036195199SCN8Ac.5889A= (p.Glu1963=)
c.5766A= (p.Glu1922=)
c.5922A= (p.Glu1974=)
12g.51807375A>CCA384890287SCN8Ac.5889A>C (p.Glu1963Asp)
c.5766A>C (p.Glu1922Asp)
c.5922A>C (p.Glu1974Asp)
12g.51807375A>GCA480062530SCN8Ac.5889A>G (p.Glu1963=)
c.5766A>G (p.Glu1922=)
c.5922A>G (p.Glu1974=)
 dbSNP
12g.51807375A>TCA384890289SCN8Ac.5889A>T (p.Glu1963Asp)
c.5766A>T (p.Glu1922Asp)
c.5922A>T (p.Glu1974Asp)
12g.51807376G>ACA6571966SCN8Ac.5890G>A (p.Gly1964Arg)
c.5767G>A (p.Gly1923Arg)
c.5923G>A (p.Gly1975Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51807376G>CCA384890300SCN8Ac.5890G>C (p.Gly1964Arg)
c.5767G>C (p.Gly1923Arg)
c.5923G>C (p.Gly1975Arg)
12g.51807376G=CA2036195203SCN8Ac.5890G= (p.Gly1964=)
c.5767G= (p.Gly1923=)
c.5923G= (p.Gly1975=)
12g.51807376G>TCA384890296SCN8Ac.5890G>T (p.Gly1964Ter)
c.5767G>T (p.Gly1923Ter)
c.5923G>T (p.Gly1975Ter)
 dbSNP
12g.51807376_51807379delinsGGAACA2036195206SCN8Ac.5890_5893delinsGGAA (p.Gly1964=)
c.5767_5770delinsGGAA (p.Gly1923=)
c.5923_5926delinsGGAA (p.Gly1975=)
12g.51807377G>ACA384890305SCN8Ac.5891G>A (p.Gly1964Glu)
c.5768G>A (p.Gly1923Glu)
c.5924G>A (p.Gly1975Glu)
 gnomAD v4
12g.51807377G>CCA384890308SCN8Ac.5891G>C (p.Gly1964Ala)
c.5768G>C (p.Gly1923Ala)
c.5924G>C (p.Gly1975Ala)
12g.51807377G>TCA384890315SCN8Ac.5891G>T (p.Gly1964Val)
c.5768G>T (p.Gly1923Val)
c.5924G>T (p.Gly1975Val)
12g.51807381_51807383delCA605238632SCN8Ac.5895_5897del (p.Arg1966del)
c.5772_5774del (p.Arg1925del)
c.5928_5930del (p.Arg1977del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51807378A>CCA480062536SCN8Ac.5892A>C (p.Gly1964=)
c.5769A>C (p.Gly1923=)
c.5925A>C (p.Gly1975=)
12g.51807378A>GCA480062537SCN8Ac.5892A>G (p.Gly1964=)
c.5769A>G (p.Gly1923=)
c.5925A>G (p.Gly1975=)
12g.51807378A>TCA480062538SCN8Ac.5892A>T (p.Gly1964=)
c.5769A>T (p.Gly1923=)
c.5925A>T (p.Gly1975=)
12g.51807379A=CA2036195214SCN8Ac.5893A= (p.Arg1965=)
c.5770A= (p.Arg1924=)
c.5926A= (p.Arg1976=)
12g.51807379A>CCA480062540SCN8Ac.5893A>C (p.Arg1965=)
c.5770A>C (p.Arg1924=)
c.5926A>C (p.Arg1976=)
12g.51807379A>GCA236328002SCN8Ac.5893A>G (p.Arg1965Gly)
c.5770A>G (p.Arg1924Gly)
c.5926A>G (p.Arg1976Gly)
 dbSNP gnomAD v4
12g.51807379A>TCA384890324SCN8Ac.5893A>T (p.Arg1965Ter)
c.5770A>T (p.Arg1924Ter)
c.5926A>T (p.Arg1976Ter)
 dbSNP
12g.51807380G>ACA6571967SCN8Ac.5894G>A (p.Arg1965Lys)
c.5771G>A (p.Arg1924Lys)
c.5927G>A (p.Arg1976Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51807380G>CCA384890346SCN8Ac.5894G>C (p.Arg1965Thr)
c.5771G>C (p.Arg1924Thr)
c.5927G>C (p.Arg1976Thr)
12g.51807380G=CA2036195221SCN8Ac.5894G= (p.Arg1965=)
c.5771G= (p.Arg1924=)
c.5927G= (p.Arg1976=)
12g.51807380G>TCA384890352SCN8Ac.5894G>T (p.Arg1965Ile)
c.5771G>T (p.Arg1924Ile)
c.5927G>T (p.Arg1976Ile)
12g.51807381A=CA2036195224SCN8Ac.5895A= (p.Arg1965=)
c.5772A= (p.Arg1924=)
c.5928A= (p.Arg1976=)
12g.51807381A>CCA384890353SCN8Ac.5895A>C (p.Arg1965Ser)
c.5772A>C (p.Arg1924Ser)
c.5928A>C (p.Arg1976Ser)
 dbSNP gnomAD v2 gnomAD v4
12g.51807381A>GCA480062544SCN8Ac.5895A>G (p.Arg1965=)
c.5772A>G (p.Arg1924=)
c.5928A>G (p.Arg1976=)
12g.51807381A>TCA384890354SCN8Ac.5895A>T (p.Arg1965Ser)
c.5772A>T (p.Arg1924Ser)
c.5928A>T (p.Arg1976Ser)
12g.51807382A>CCA480062548SCN8Ac.5896A>C (p.Arg1966=)
c.5773A>C (p.Arg1925=)
c.5929A>C (p.Arg1977=)
 ClinVar dbSNP
12g.51807382A>GCA384890356SCN8Ac.5896A>G (p.Arg1966Gly)
c.5773A>G (p.Arg1925Gly)
c.5929A>G (p.Arg1977Gly)
12g.51807382A>TCA384890359SCN8Ac.5896A>T (p.Arg1966Trp)
c.5773A>T (p.Arg1925Trp)
c.5929A>T (p.Arg1977Trp)
12g.51807383G>ACA384890373SCN8Ac.5897G>A (p.Arg1966Lys)
c.5774G>A (p.Arg1925Lys)
c.5930G>A (p.Arg1977Lys)
 ClinVar gnomAD v4
12g.51807383G>CCA6571968SCN8Ac.5897G>C (p.Arg1966Thr)
c.5774G>C (p.Arg1925Thr)
c.5930G>C (p.Arg1977Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51807383G=CA2036195226SCN8Ac.5897G= (p.Arg1966=)
c.5774G= (p.Arg1925=)
c.5930G= (p.Arg1977=)
12g.51807383G>TCA384890372SCN8Ac.5897G>T (p.Arg1966Met)
c.5774G>T (p.Arg1925Met)
c.5930G>T (p.Arg1977Met)
12g.51807384G>ACA480062554SCN8Ac.5898G>A (p.Arg1966=)
c.5775G>A (p.Arg1925=)
c.5931G>A (p.Arg1977=)
12g.51807384G>CCA384890379SCN8Ac.5898G>C (p.Arg1966Ser)
c.5775G>C (p.Arg1925Ser)
c.5931G>C (p.Arg1977Ser)
12g.51807384G>TCA384890383SCN8Ac.5898G>T (p.Arg1966Ser)
c.5775G>T (p.Arg1925Ser)
c.5931G>T (p.Arg1977Ser)
12g.51807385G>ACA384890385SCN8Ac.5899G>A (p.Glu1967Lys)
c.5776G>A (p.Glu1926Lys)
c.5932G>A (p.Glu1978Lys)
12g.51807385G>CCA384890400SCN8Ac.5899G>C (p.Glu1967Gln)
c.5776G>C (p.Glu1926Gln)
c.5932G>C (p.Glu1978Gln)
12g.51807385G=CA2036195229SCN8Ac.5899G= (p.Glu1967=)
c.5776G= (p.Glu1926=)
c.5932G= (p.Glu1978=)
12g.51807385G>TCA384890401SCN8Ac.5899G>T (p.Glu1967Ter)
c.5776G>T (p.Glu1926Ter)
c.5932G>T (p.Glu1978Ter)
 dbSNP
12g.51807386A>CCA384890416SCN8Ac.5900A>C (p.Glu1967Ala)
c.5777A>C (p.Glu1926Ala)
c.5933A>C (p.Glu1978Ala)
12g.51807386A>GCA384890413SCN8Ac.5900A>G (p.Glu1967Gly)
c.5777A>G (p.Glu1926Gly)
c.5933A>G (p.Glu1978Gly)
12g.51807386A>TCA384890404SCN8Ac.5900A>T (p.Glu1967Val)
c.5777A>T (p.Glu1926Val)
c.5933A>T (p.Glu1978Val)
12g.51807387A>CCA384890420SCN8Ac.5901A>C (p.Glu1967Asp)
c.5778A>C (p.Glu1926Asp)
c.5934A>C (p.Glu1978Asp)
12g.51807387A>GCA480062559SCN8Ac.5901A>G (p.Glu1967=)
c.5778A>G (p.Glu1926=)
c.5934A>G (p.Glu1978=)
 gnomAD v4
12g.51807387A>TCA384890424SCN8Ac.5901A>T (p.Glu1967Asp)
c.5778A>T (p.Glu1926Asp)
c.5934A>T (p.Glu1978Asp)
12g.51807387_51807389delinsAAGCA2036195231SCN8Ac.5901_5903delinsAAG (p.Glu1967=)
c.5778_5780delinsAAG (p.Glu1926=)
c.5934_5936delinsAAG (p.Glu1978=)
12g.51807388A=CA2036195238SCN8Ac.5902A= (p.Arg1968=)
c.5779A= (p.Arg1927=)
c.5935A= (p.Arg1979=)
12g.51807388A>CCA480062562SCN8Ac.5902A>C (p.Arg1968=)
c.5779A>C (p.Arg1927=)
c.5935A>C (p.Arg1979=)
12g.51807388A>GCA384890427SCN8Ac.5902A>G (p.Arg1968Gly)
c.5779A>G (p.Arg1927Gly)
c.5935A>G (p.Arg1979Gly)
 gnomAD v4
12g.51807388A>TCA384890430SCN8Ac.5902A>T (p.Arg1968Ter)
c.5779A>T (p.Arg1927Ter)
c.5935A>T (p.Arg1979Ter)
 dbSNP
12g.51807390_51807391delCA947652811SCN8Ac.5904_5905del (p.Arg1968SerfsTer29)
c.5781_5782del (p.Arg1927SerfsTer29)
c.5781_5782del (p.Arg1927SerfsTer?)
c.5937_5938del (p.Arg1979SerfsTer?)
c.5904_5905del (p.Arg1968SerfsTer?)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.51807389G>ACA6571969SCN8Ac.5903G>A (p.Arg1968Lys)
c.5780G>A (p.Arg1927Lys)
c.5936G>A (p.Arg1979Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51807389G>CCA384890437SCN8Ac.5903G>C (p.Arg1968Thr)
c.5780G>C (p.Arg1927Thr)
c.5936G>C (p.Arg1979Thr)
 ClinVar
12g.51807389G=CA2036195246SCN8Ac.5903G= (p.Arg1968=)
c.5780G= (p.Arg1927=)
c.5936G= (p.Arg1979=)
12g.51807389G>TCA384890439SCN8Ac.5903G>T (p.Arg1968Ile)
c.5780G>T (p.Arg1927Ile)
c.5936G>T (p.Arg1979Ile)
12g.51807390A>CCA384890441SCN8Ac.5904A>C (p.Arg1968Ser)
c.5781A>C (p.Arg1927Ser)
c.5937A>C (p.Arg1979Ser)
12g.51807390A>GCA480062567SCN8Ac.5904A>G (p.Arg1968=)
c.5781A>G (p.Arg1927=)
c.5937A>G (p.Arg1979=)
12g.51807390A>TCA384890442SCN8Ac.5904A>T (p.Arg1968Ser)
c.5781A>T (p.Arg1927Ser)
c.5937A>T (p.Arg1979Ser)
12g.51807391G>ACA384890443SCN8Ac.5905G>A (p.Ala1969Thr)
c.5782G>A (p.Ala1928Thr)
c.5938G>A (p.Ala1980Thr)
12g.51807391G>CCA384890449SCN8Ac.5905G>C (p.Ala1969Pro)
c.5782G>C (p.Ala1928Pro)
c.5938G>C (p.Ala1980Pro)
 dbSNP
12g.51807391G=CA2036195252SCN8Ac.5905G= (p.Ala1969=)
c.5782G= (p.Ala1928=)
c.5938G= (p.Ala1980=)
12g.51807391G>TCA384890446SCN8Ac.5905G>T (p.Ala1969Ser)
c.5782G>T (p.Ala1928Ser)
c.5938G>T (p.Ala1980Ser)
12g.51807392C>ACA384890466SCN8Ac.5906C>A (p.Ala1969Asp)
c.5783C>A (p.Ala1928Asp)
c.5939C>A (p.Ala1980Asp)
 gnomAD v4
12g.51807392C>GCA384890468SCN8Ac.5906C>G (p.Ala1969Gly)
c.5783C>G (p.Ala1928Gly)
c.5939C>G (p.Ala1980Gly)
12g.51807392C>TCA384890472SCN8Ac.5906C>T (p.Ala1969Val)
c.5783C>T (p.Ala1928Val)
c.5939C>T (p.Ala1980Val)
 gnomAD v4
12g.51807393C>ACA480062571SCN8Ac.5907C>A (p.Ala1969=)
c.5784C>A (p.Ala1928=)
c.5940C>A (p.Ala1980=)
12g.51807393C>GCA480062573SCN8Ac.5907C>G (p.Ala1969=)
c.5784C>G (p.Ala1928=)
c.5940C>G (p.Ala1980=)
12g.51807393C>TCA480062575SCN8Ac.5907C>T (p.Ala1969=)
c.5784C>T (p.Ala1928=)
c.5940C>T (p.Ala1980=)
12g.51807394A=CA2036195260SCN8Ac.5908A= (p.Lys1970=)
c.5785A= (p.Lys1929=)
c.5941A= (p.Lys1981=)
12g.51807394A>CCA384890475SCN8Ac.5908A>C (p.Lys1970Gln)
c.5785A>C (p.Lys1929Gln)
c.5941A>C (p.Lys1981Gln)
 gnomAD v4
12g.51807394A>GCA384890478SCN8Ac.5908A>G (p.Lys1970Glu)
c.5785A>G (p.Lys1929Glu)
c.5941A>G (p.Lys1981Glu)
12g.51807394A>TCA384890481SCN8Ac.5908A>T (p.Lys1970Ter)
c.5785A>T (p.Lys1929Ter)
c.5941A>T (p.Lys1981Ter)
 dbSNP
12g.51807395A>CCA384890492SCN8Ac.5909A>C (p.Lys1970Thr)
c.5786A>C (p.Lys1929Thr)
c.5942A>C (p.Lys1981Thr)
12g.51807395A>GCA384890498SCN8Ac.5909A>G (p.Lys1970Arg)
c.5786A>G (p.Lys1929Arg)
c.5942A>G (p.Lys1981Arg)
12g.51807395A>TCA384890501SCN8Ac.5909A>T (p.Lys1970Ile)
c.5786A>T (p.Lys1929Ile)
c.5942A>T (p.Lys1981Ile)
12g.51807396A>CCA384890504SCN8Ac.5910A>C (p.Lys1970Asn)
c.5787A>C (p.Lys1929Asn)
c.5943A>C (p.Lys1981Asn)
12g.51807396A>GCA480062580SCN8Ac.5910A>G (p.Lys1970=)
c.5787A>G (p.Lys1929=)
c.5943A>G (p.Lys1981=)
12g.51807396A>TCA384890506SCN8Ac.5910A>T (p.Lys1970Asn)
c.5787A>T (p.Lys1929Asn)
c.5943A>T (p.Lys1981Asn)
12g.51807396_51807397insCACACCCACA2795967146SCN8Ac.5910_5911insCACACCCA (p.Arg1971HisfsTer25)
c.5787_5788insCACACCCA (p.Arg1930HisfsTer25)
c.5787_5788insCACACCCA (p.Arg1930HisfsTer?)
c.5943_5944insCACACCCA (p.Arg1982HisfsTer?)
c.5910_5911insCACACCCA (p.Arg1971HisfsTer?)
12g.51807397A=CA2036195263SCN8Ac.5911A= (p.Arg1971=)
c.5788A= (p.Arg1930=)
c.5944A= (p.Arg1982=)
12g.51807397A>CCA480062581SCN8Ac.5911A>C (p.Arg1971=)
c.5788A>C (p.Arg1930=)
c.5944A>C (p.Arg1982=)
12g.51807397A>GCA384890509SCN8Ac.5911A>G (p.Arg1971Gly)
c.5788A>G (p.Arg1930Gly)
c.5944A>G (p.Arg1982Gly)
 ClinVar
12g.51807397A>TCA384890512SCN8Ac.5911A>T (p.Arg1971Ter)
c.5788A>T (p.Arg1930Ter)
c.5944A>T (p.Arg1982Ter)
 dbSNP
12g.51807398G>ACA384890517SCN8Ac.5912G>A (p.Arg1971Lys)
c.5789G>A (p.Arg1930Lys)
c.5945G>A (p.Arg1982Lys)
12g.51807398G>CCA384890526SCN8Ac.5912G>C (p.Arg1971Thr)
c.5789G>C (p.Arg1930Thr)
c.5945G>C (p.Arg1982Thr)
 gnomAD v4
12g.51807398G>TCA384890523SCN8Ac.5912G>T (p.Arg1971Ile)
c.5789G>T (p.Arg1930Ile)
c.5945G>T (p.Arg1982Ile)
12g.51807399A>CCA384890530SCN8Ac.5913A>C (p.Arg1971Ser)
c.5790A>C (p.Arg1930Ser)
c.5946A>C (p.Arg1982Ser)
12g.51807399A>GCA480062583SCN8Ac.5913A>G (p.Arg1971=)
c.5790A>G (p.Arg1930=)
c.5946A>G (p.Arg1982=)
12g.51807399A>TCA384890534SCN8Ac.5913A>T (p.Arg1971Ser)
c.5790A>T (p.Arg1930Ser)
c.5946A>T (p.Arg1982Ser)
12g.51807400C>ACA384890542SCN8Ac.5914C>A (p.Gln1972Lys)
c.5791C>A (p.Gln1931Lys)
c.5947C>A (p.Gln1983Lys)
12g.51807400C=CA2036195264SCN8Ac.5914C= (p.Gln1972=)
c.5791C= (p.Gln1931=)
c.5947C= (p.Gln1983=)
12g.51807400C>GCA384890544SCN8Ac.5914C>G (p.Gln1972Glu)
c.5791C>G (p.Gln1931Glu)
c.5947C>G (p.Gln1983Glu)
12g.51807400C>TCA384890547SCN8Ac.5914C>T (p.Gln1972Ter)
c.5791C>T (p.Gln1931Ter)
c.5947C>T (p.Gln1983Ter)
 dbSNP
12g.51807401A>CCA384890553SCN8Ac.5915A>C (p.Gln1972Pro)
c.5792A>C (p.Gln1931Pro)
c.5948A>C (p.Gln1983Pro)
12g.51807401A>GCA384890555SCN8Ac.5915A>G (p.Gln1972Arg)
c.5792A>G (p.Gln1931Arg)
c.5948A>G (p.Gln1983Arg)
12g.51807401A>TCA384890558SCN8Ac.5915A>T (p.Gln1972Leu)
c.5792A>T (p.Gln1931Leu)
c.5948A>T (p.Gln1983Leu)
12g.51807405dupCA2795967147SCN8Ac.5919dup (p.Glu1974ArgfsTer24)
c.5796dup (p.Glu1933ArgfsTer24)
c.5796dup (p.Glu1933ArgfsTer?)
c.5952dup (p.Glu1985ArgfsTer?)
c.5919dup (p.Glu1974ArgfsTer?)
12g.51807404_51807405delCA2575160524SCN8Ac.5918_5919del (p.Lys1973ArgfsTer24)
c.5795_5796del (p.Lys1932ArgfsTer24)
c.5795_5796del (p.Lys1932ArgfsTer?)
c.5951_5952del (p.Lys1984ArgfsTer?)
c.5918_5919del (p.Lys1973ArgfsTer?)
 gnomAD v4
12g.51807402A>CCA384890559SCN8Ac.5916A>C (p.Gln1972His)
c.5793A>C (p.Gln1931His)
c.5949A>C (p.Gln1983His)
12g.51807402A>GCA480062587SCN8Ac.5916A>G (p.Gln1972=)
c.5793A>G (p.Gln1931=)
c.5949A>G (p.Gln1983=)
 gnomAD v4
12g.51807402A>TCA384890560SCN8Ac.5916A>T (p.Gln1972His)
c.5793A>T (p.Gln1931His)
c.5949A>T (p.Gln1983His)
12g.51807403A=CA2036195266SCN8Ac.5917A= (p.Lys1973=)
c.5794A= (p.Lys1932=)
c.5950A= (p.Lys1984=)
12g.51807403A>CCA384890567SCN8Ac.5917A>C (p.Lys1973Gln)
c.5794A>C (p.Lys1932Gln)
c.5950A>C (p.Lys1984Gln)
12g.51807403A>GCA384890569SCN8Ac.5917A>G (p.Lys1973Glu)
c.5794A>G (p.Lys1932Glu)
c.5950A>G (p.Lys1984Glu)
12g.51807403A>TCA384890561SCN8Ac.5917A>T (p.Lys1973Ter)
c.5794A>T (p.Lys1932Ter)
c.5950A>T (p.Lys1984Ter)
 dbSNP
12g.51807403_51807404insCAAAACCAAACACACCCAACACCA2795967148SCN8Ac.5917_5918insCAAAACCAAACACACCCAACAC (p.Lys1973ThrfsTer32)
c.5794_5795insCAAAACCAAACACACCCAACAC (p.Lys1932ThrfsTer32)
c.5794_5795insCAAAACCAAACACACCCAACAC (p.Lys1932ThrfsTer?)
c.5950_5951insCAAAACCAAACACACCCAACAC (p.Lys1984ThrfsTer?)
c.5917_5918insCAAAACCAAACACACCCAACAC (p.Lys1973ThrfsTer?)
12g.51807404A>CCA384890574SCN8Ac.5918A>C (p.Lys1973Thr)
c.5795A>C (p.Lys1932Thr)
c.5951A>C (p.Lys1984Thr)
12g.51807404A>GCA384890576SCN8Ac.5918A>G (p.Lys1973Arg)
c.5795A>G (p.Lys1932Arg)
c.5951A>G (p.Lys1984Arg)
12g.51807404A>TCA384890578SCN8Ac.5918A>T (p.Lys1973Ile)
c.5795A>T (p.Lys1932Ile)
c.5951A>T (p.Lys1984Ile)
12g.51807405A>CCA384890583SCN8Ac.5919A>C (p.Lys1973Asn)
c.5796A>C (p.Lys1932Asn)
c.5952A>C (p.Lys1984Asn)
12g.51807405A>GCA480062591SCN8Ac.5919A>G (p.Lys1973=)
c.5796A>G (p.Lys1932=)
c.5952A>G (p.Lys1984=)
12g.51807405A>TCA384890584SCN8Ac.5919A>T (p.Lys1973Asn)
c.5796A>T (p.Lys1932Asn)
c.5952A>T (p.Lys1984Asn)
12g.51807406G>ACA384890585SCN8Ac.5920G>A (p.Glu1974Lys)
c.5797G>A (p.Glu1933Lys)
c.5953G>A (p.Glu1985Lys)
12g.51807406G>CCA384890587SCN8Ac.5920G>C (p.Glu1974Gln)
c.5797G>C (p.Glu1933Gln)
c.5953G>C (p.Glu1985Gln)
12g.51807406G=CA2036195269SCN8Ac.5920G= (p.Glu1974=)
c.5797G= (p.Glu1933=)
c.5953G= (p.Glu1985=)
12g.51807406G>TCA384890590SCN8Ac.5920G>T (p.Glu1974Ter)
c.5797G>T (p.Glu1933Ter)
c.5953G>T (p.Glu1985Ter)
 dbSNP
12g.51807407A>CCA384890596SCN8Ac.5921A>C (p.Glu1974Ala)
c.5798A>C (p.Glu1933Ala)
c.5954A>C (p.Glu1985Ala)
12g.51807407A>GCA384890599SCN8Ac.5921A>G (p.Glu1974Gly)
c.5798A>G (p.Glu1933Gly)
c.5954A>G (p.Glu1985Gly)
12g.51807407A>TCA384890601SCN8Ac.5921A>T (p.Glu1974Val)
c.5798A>T (p.Glu1933Val)
c.5954A>T (p.Glu1985Val)
12g.51807408G>ACA480062596SCN8Ac.5922G>A (p.Glu1974=)
c.5799G>A (p.Glu1933=)
c.5955G>A (p.Glu1985=)
 gnomAD v4
12g.51807408G>CCA384890604SCN8Ac.5922G>C (p.Glu1974Asp)
c.5799G>C (p.Glu1933Asp)
c.5955G>C (p.Glu1985Asp)
12g.51807408G>TCA384890606SCN8Ac.5922G>T (p.Glu1974Asp)
c.5799G>T (p.Glu1933Asp)
c.5955G>T (p.Glu1985Asp)
12g.51807409G>ACA384890620SCN8Ac.5923G>A (p.Val1975Ile)
c.5800G>A (p.Val1934Ile)
c.5956G>A (p.Val1986Ile)
12g.51807409G>CCA384890614SCN8Ac.5923G>C (p.Val1975Leu)
c.5800G>C (p.Val1934Leu)
c.5956G>C (p.Val1986Leu)
12g.51807409G>TCA384890611SCN8Ac.5923G>T (p.Val1975Phe)
c.5800G>T (p.Val1934Phe)
c.5956G>T (p.Val1986Phe)
12g.51807410T>ACA384890627SCN8Ac.5924T>A (p.Val1975Asp)
c.5801T>A (p.Val1934Asp)
c.5957T>A (p.Val1986Asp)
12g.51807410T>CCA384890630SCN8Ac.5924T>C (p.Val1975Ala)
c.5801T>C (p.Val1934Ala)
c.5957T>C (p.Val1986Ala)
 ClinVar dbSNP
12g.51807410T>GCA384890631SCN8Ac.5924T>G (p.Val1975Gly)
c.5801T>G (p.Val1934Gly)
c.5957T>G (p.Val1986Gly)
12g.51807410T=CA2036195280SCN8Ac.5924T= (p.Val1975=)
c.5801T= (p.Val1934=)
c.5957T= (p.Val1986=)
12g.51807411C>ACA480062598SCN8Ac.5925C>A (p.Val1975=)
c.5802C>A (p.Val1934=)
c.5958C>A (p.Val1986=)
 gnomAD v4
12g.51807411C>GCA480062599SCN8Ac.5925C>G (p.Val1975=)
c.5802C>G (p.Val1934=)
c.5958C>G (p.Val1986=)
12g.51807411C>TCA480062600SCN8Ac.5925C>T (p.Val1975=)
c.5802C>T (p.Val1934=)
c.5958C>T (p.Val1986=)
12g.51807412A=CA2036195287SCN8Ac.5926A= (p.Arg1976=)
c.5803A= (p.Arg1935=)
c.5959A= (p.Arg1987=)
12g.51807412A>CCA480062602SCN8Ac.5926A>C (p.Arg1976=)
c.5803A>C (p.Arg1935=)
c.5959A>C (p.Arg1987=)
12g.51807412A>GCA384890632SCN8Ac.5926A>G (p.Arg1976Gly)
c.5803A>G (p.Arg1935Gly)
c.5959A>G (p.Arg1987Gly)
12g.51807412A>TCA384890634SCN8Ac.5926A>T (p.Arg1976Ter)
c.5803A>T (p.Arg1935Ter)
c.5959A>T (p.Arg1987Ter)
 dbSNP
12g.51807413G>ACA384890636SCN8Ac.5927G>A (p.Arg1976Lys)
c.5804G>A (p.Arg1935Lys)
c.5960G>A (p.Arg1987Lys)
12g.51807413G>CCA384890638SCN8Ac.5927G>C (p.Arg1976Thr)
c.5804G>C (p.Arg1935Thr)
c.5960G>C (p.Arg1987Thr)
12g.51807413G>TCA384890642SCN8Ac.5927G>T (p.Arg1976Ile)
c.5804G>T (p.Arg1935Ile)
c.5960G>T (p.Arg1987Ile)
12g.51807414A>CCA384890647SCN8Ac.5928A>C (p.Arg1976Ser)
c.5805A>C (p.Arg1935Ser)
c.5961A>C (p.Arg1987Ser)
12g.51807414A>GCA480062604SCN8Ac.5928A>G (p.Arg1976=)
c.5805A>G (p.Arg1935=)
c.5961A>G (p.Arg1987=)
12g.51807414A>TCA384890650SCN8Ac.5928A>T (p.Arg1976Ser)
c.5805A>T (p.Arg1935Ser)
c.5961A>T (p.Arg1987Ser)
12g.51807415G>ACA384890655SCN8Ac.5929G>A (p.Glu1977Lys)
c.5806G>A (p.Glu1936Lys)
c.5962G>A (p.Glu1988Lys)
12g.51807415G>CCA384890657SCN8Ac.5929G>C (p.Glu1977Gln)
c.5806G>C (p.Glu1936Gln)
c.5962G>C (p.Glu1988Gln)
12g.51807415G=CA2036195294SCN8Ac.5929G= (p.Glu1977=)
c.5806G= (p.Glu1936=)
c.5962G= (p.Glu1988=)
12g.51807415G>TCA384890666SCN8Ac.5929G>T (p.Glu1977Ter)
c.5806G>T (p.Glu1936Ter)
c.5962G>T (p.Glu1988Ter)
 dbSNP gnomAD v4
12g.51807416A=CA2036195300SCN8Ac.5930A= (p.Glu1977=)
c.5807A= (p.Glu1936=)
c.5963A= (p.Glu1988=)
12g.51807416A>CCA384890672SCN8Ac.5930A>C (p.Glu1977Ala)
c.5807A>C (p.Glu1936Ala)
c.5963A>C (p.Glu1988Ala)
 gnomAD v4
12g.51807416A>GCA384890678SCN8Ac.5930A>G (p.Glu1977Gly)
c.5807A>G (p.Glu1936Gly)
c.5963A>G (p.Glu1988Gly)
 dbSNP
12g.51807416A>TCA384890674SCN8Ac.5930A>T (p.Glu1977Val)
c.5807A>T (p.Glu1936Val)
c.5963A>T (p.Glu1988Val)
12g.51807417A>CCA384890681SCN8Ac.5931A>C (p.Glu1977Asp)
c.5808A>C (p.Glu1936Asp)
c.5964A>C (p.Glu1988Asp)
12g.51807417A>GCA480062610SCN8Ac.5931A>G (p.Glu1977=)
c.5808A>G (p.Glu1936=)
c.5964A>G (p.Glu1988=)
12g.51807417A>TCA384890684SCN8Ac.5931A>T (p.Glu1977Asp)
c.5808A>T (p.Glu1936Asp)
c.5964A>T (p.Glu1988Asp)
12g.51807418T>ACA384890690SCN8Ac.5932T>A (p.Ser1978Thr)
c.5809T>A (p.Ser1937Thr)
c.5965T>A (p.Ser1989Thr)
12g.51807418T>CCA384890696SCN8Ac.5932T>C (p.Ser1978Pro)
c.5809T>C (p.Ser1937Pro)
c.5965T>C (p.Ser1989Pro)
12g.51807418T>GCA384890693SCN8Ac.5932T>G (p.Ser1978Ala)
c.5809T>G (p.Ser1937Ala)
c.5965T>G (p.Ser1989Ala)
12g.51807419C>ACA384890701SCN8Ac.5933C>A (p.Ser1978Tyr)
c.5810C>A (p.Ser1937Tyr)
c.5966C>A (p.Ser1989Tyr)
12g.51807419C=CA2036195305SCN8Ac.5933C= (p.Ser1978=)
c.5810C= (p.Ser1937=)
c.5966C= (p.Ser1989=)
12g.51807419C>GCA384890705SCN8Ac.5933C>G (p.Ser1978Cys)
c.5810C>G (p.Ser1937Cys)
c.5966C>G (p.Ser1989Cys)
12g.51807419C>TCA384890711SCN8Ac.5933C>T (p.Ser1978Phe)
c.5810C>T (p.Ser1937Phe)
c.5966C>T (p.Ser1989Phe)
 dbSNP gnomAD v2
12g.51807420C>ACA480062611SCN8Ac.5934C>A (p.Ser1978=)
c.5811C>A (p.Ser1937=)
c.5967C>A (p.Ser1989=)
 gnomAD v4
12g.51807420C>GCA480062612SCN8Ac.5934C>G (p.Ser1978=)
c.5811C>G (p.Ser1937=)
c.5967C>G (p.Ser1989=)
12g.51807420C>TCA480062613SCN8Ac.5934C>T (p.Ser1978=)
c.5811C>T (p.Ser1937=)
c.5967C>T (p.Ser1989=)
12g.51807421A>CCA384890721SCN8Ac.5935A>C (p.Lys1979Gln)
c.5812A>C (p.Lys1938Gln)
c.5968A>C (p.Lys1990Gln)
12g.51807421A>GCA384890725SCN8Ac.5935A>G (p.Lys1979Glu)
c.5812A>G (p.Lys1938Glu)
c.5968A>G (p.Lys1990Glu)
12g.51807421A>TCA384890726SCN8Ac.5935A>T (p.Lys1979Ter)
c.5812A>T (p.Lys1938Ter)
c.5968A>T (p.Lys1990Ter)
12g.51807422A=CA2036195308SCN8Ac.5936A= (p.Lys1979=)
c.5813A= (p.Lys1938=)
c.5969A= (p.Lys1990=)
12g.51807422A>CCA384890735SCN8Ac.5936A>C (p.Lys1979Thr)
c.5813A>C (p.Lys1938Thr)
c.5969A>C (p.Lys1990Thr)
 ClinVar dbSNP gnomAD v4
12g.51807422A>GCA384890738SCN8Ac.5936A>G (p.Lys1979Arg)
c.5813A>G (p.Lys1938Arg)
c.5969A>G (p.Lys1990Arg)
12g.51807422A>TCA384890740SCN8Ac.5936A>T (p.Lys1979Met)
c.5813A>T (p.Lys1938Met)
c.5969A>T (p.Lys1990Met)
12g.51807423G>ACA480062614SCN8Ac.5937G>A (p.Lys1979=)
c.5814G>A (p.Lys1938=)
c.5970G>A (p.Lys1990=)
 gnomAD v4
12g.51807423G>CCA236328014SCN8Ac.5937G>C (p.Lys1979Asn)
c.5814G>C (p.Lys1938Asn)
c.5970G>C (p.Lys1990Asn)
 dbSNP gnomAD v3 gnomAD v4
12g.51807423G=CA2036195312SCN8Ac.5937G= (p.Lys1979=)
c.5814G= (p.Lys1938=)
c.5970G= (p.Lys1990=)
12g.51807423G>TCA384890742SCN8Ac.5937G>T (p.Lys1979Asn)
c.5814G>T (p.Lys1938Asn)
c.5970G>T (p.Lys1990Asn)
12g.51807424T>ACA384890758SCN8Ac.5938T>A (p.Cys1980Ser)
c.5815T>A (p.Cys1939Ser)
c.5971T>A (p.Cys1991Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51807424T>CCA384890757SCN8Ac.5938T>C (p.Cys1980Arg)
c.5815T>C (p.Cys1939Arg)
c.5971T>C (p.Cys1991Arg)
 gnomAD v4
12g.51807424T>GCA384890754SCN8Ac.5938T>G (p.Cys1980Gly)
c.5815T>G (p.Cys1939Gly)
c.5971T>G (p.Cys1991Gly)
12g.51807424T=CA2036195319SCN8Ac.5938T= (p.Cys1980=)
c.5815T= (p.Cys1939=)
c.5971T= (p.Cys1991=)
12g.51807424_51807427dupCA2573148742SCN8Ac.5938_5941dup (p.Ter1981LeuextTer18)
c.5815_5818dup (p.Ter1940LeuextTer18)
c.5815_5818dup (p.Ter1940LeuextTer?)
c.5971_5974dup (p.Ter1992LeuextTer?)
c.5938_5941dup (p.Ter1981LeuextTer?)
 ClinVar dbSNP
12g.51807425G>ACA384890760SCN8Ac.5939G>A (p.Cys1980Tyr)
c.5816G>A (p.Cys1939Tyr)
c.5972G>A (p.Cys1991Tyr)
12g.51807425G>CCA384890762SCN8Ac.5939G>C (p.Cys1980Ser)
c.5816G>C (p.Cys1939Ser)
c.5972G>C (p.Cys1991Ser)
12g.51807425G>TCA384890766SCN8Ac.5939G>T (p.Cys1980Phe)
c.5816G>T (p.Cys1939Phe)
c.5972G>T (p.Cys1991Phe)
12g.51807426T>ACA6571970SCN8Ac.5940T>A (p.Cys1980Ter)
c.5817T>A (p.Cys1939Ter)
c.5973T>A (p.Cys1991Ter)
 dbSNP ExAC gnomAD v4
12g.51807426T>CCA480062615SCN8Ac.5940T>C (p.Cys1980=)
c.5817T>C (p.Cys1939=)
c.5973T>C (p.Cys1991=)
12g.51807426T>GCA384890775SCN8Ac.5940T>G (p.Cys1980Trp)
c.5817T>G (p.Cys1939Trp)
c.5973T>G (p.Cys1991Trp)
12g.51807426T=CA2036195324SCN8Ac.5940T= (p.Cys1980=)
c.5817T= (p.Cys1939=)
c.5973T= (p.Cys1991=)
12g.51807427T>ACA384890781SCN8Ac.5941T>A (p.Ter1981Lys)
c.5818T>A (p.Ter1940Lys)
c.5974T>A (p.Ter1992Lys)
12g.51807427T>CCA384890784SCN8Ac.5941T>C (p.Ter1981Gln)
c.5818T>C (p.Ter1940Gln)
c.5974T>C (p.Ter1992Gln)
12g.51807427T>GCA384890787SCN8Ac.5941T>G (p.Ter1981Glu)
c.5818T>G (p.Ter1940Glu)
c.5974T>G (p.Ter1992Glu)
12g.51807427_51807429delinsTAGCA2036195329SCN8Ac.5941_5943delinsTAG (p.Ter1981=)
c.5818_5820delinsTAG (p.Ter1940=)
c.5974_5976delinsTAG (p.Ter1992=)
12g.51807428A>CCA384890791SCN8Ac.5942A>C (p.Ter1981Ser)
c.5819A>C (p.Ter1940Ser)
c.5975A>C (p.Ter1992Ser)
12g.51807428A>GCA384890794SCN8Ac.5942A>G (p.Ter1981Trp)
c.5819A>G (p.Ter1940Trp)
c.5975A>G (p.Ter1992Trp)
12g.51807428A>TCA384890796SCN8Ac.5942A>T (p.Ter1981Leu)
c.5819A>T (p.Ter1940Leu)
c.5975A>T (p.Ter1992Leu)
12g.51807428_51807431delinsAGAGCA2036195340SCN8Ac.5942_*2delinsAGAG (n.[c.5942_*2delinsAGAG;Ter1981=])
c.5819_*2delinsAGAG (n.[c.5819_*2delinsAGAG;Ter1940=])
12g.51807430_51807431delCA689784040SCN8Ac.*1_*2del (n.*1_*2del)
 dbSNP
12g.51807429G>ACA480062616SCN8Ac.5943G>A (p.Ter1981=)
c.5820G>A (p.Ter1940=)
c.5976G>A (p.Ter1992=)
12g.51807429G>CCA384890815SCN8Ac.5943G>C (p.Ter1981Tyr)
c.5820G>C (p.Ter1940Tyr)
c.5976G>C (p.Ter1992Tyr)
12g.51807429G>TCA384890818SCN8Ac.5943G>T (p.Ter1981Tyr)
c.5820G>T (p.Ter1940Tyr)
c.5976G>T (p.Ter1992Tyr)
 gnomAD v4
12g.51807432_51807434dupCA236328020SCN8Ac.*3_*5dup (n.*3_*5dup)
 dbSNP
12g.51807432_51807434delCA202091SCN8Ac.*3_*5del (n.*3_*5del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51807430A>GCA2618842496SCN8Ac.*1A>G (n.*1A>G)
 gnomAD v4
12g.51807431G>ACA605238633SCN8Ac.*2G>A (n.*2G>A)
 dbSNP gnomAD v2 gnomAD v4
12g.51807431G=CA2036195359SCN8Ac.*2G= (n.*2G=)

Number of alleles fetched