Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.18783128delCA2583621103COMPc.2156del (p.Gly719ValfsTer?)
c.1997del (p.Gly666ValfsTer?)
c.2057del (p.Gly686ValfsTer?)
 gnomAD v4
19g.18783128C>ACA404875040COMPc.2153G>T (p.Arg718Leu)
c.1994G>T (p.Arg665Leu)
c.2054G>T (p.Arg685Leu)
 gnomAD v4
19g.18783128C=CA2326524013COMPc.2153G= (p.Arg718=)
c.1994G= (p.Arg665=)
c.2054G= (p.Arg685=)
19g.18783128C>GCA344892COMPc.2153G>C (p.Arg718Pro)
c.1994G>C (p.Arg665Pro)
c.2054G>C (p.Arg685Pro)
 ClinVar dbSNP
19g.18783128C>TCA9316159COMPc.2153G>A (p.Arg718Gln)
c.1994G>A (p.Arg665Gln)
c.2054G>A (p.Arg685Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18783130_18783151delCA2583621104COMPc.2132_2153del (p.Val711GlyfsTer?)
c.1973_1994del (p.Val658GlyfsTer?)
c.2033_2054del (p.Val678GlyfsTer?)
 gnomAD v4
19g.18783129G>ACA340882COMPc.2152C>T (p.Arg718Trp)
c.1993C>T (p.Arg665Trp)
c.2053C>T (p.Arg685Trp)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.18783129G>CCA404875041COMPc.2152C>G (p.Arg718Gly)
c.1993C>G (p.Arg665Gly)
c.2053C>G (p.Arg685Gly)
19g.18783129G=CA2326524014COMPc.2152C= (p.Arg718=)
c.1993C= (p.Arg665=)
c.2053C= (p.Arg685=)
19g.18783129G>TCA9316160COMPc.2152C>A (p.Arg718=)
c.1993C>A (p.Arg665=)
c.2053C>A (p.Arg685=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18783130C>ACA404875042COMPc.2151G>T (p.Met717Ile)
c.1992G>T (p.Met664Ile)
c.2052G>T (p.Met684Ile)
19g.18783130C>GCA404875044COMPc.2151G>C (p.Met717Ile)
c.1992G>C (p.Met664Ile)
c.2052G>C (p.Met684Ile)
19g.18783130C>TCA404875043COMPc.2151G>A (p.Met717Ile)
c.1992G>A (p.Met664Ile)
c.2052G>A (p.Met684Ile)
 COSMIC
19g.18783131A=CA2326524015COMPc.2150T= (p.Met717=)
c.1991T= (p.Met664=)
c.2051T= (p.Met684=)
19g.18783131A>CCA404875045COMPc.2150T>G (p.Met717Arg)
c.1991T>G (p.Met664Arg)
c.2051T>G (p.Met684Arg)
 ClinVar dbSNP
19g.18783131A>GCA404875046COMPc.2150T>C (p.Met717Thr)
c.1991T>C (p.Met664Thr)
c.2051T>C (p.Met684Thr)
 gnomAD v4
19g.18783131A>TCA404875047COMPc.2150T>A (p.Met717Lys)
c.1991T>A (p.Met664Lys)
c.2051T>A (p.Met684Lys)
19g.18783132T>ACA404875048COMPc.2149A>T (p.Met717Leu)
c.1990A>T (p.Met664Leu)
c.2050A>T (p.Met684Leu)
19g.18783132T>CCA404875049COMPc.2149A>G (p.Met717Val)
c.1990A>G (p.Met664Val)
c.2050A>G (p.Met684Val)
19g.18783132T>GCA404875050COMPc.2149A>C (p.Met717Leu)
c.1990A>C (p.Met664Leu)
c.2050A>C (p.Met684Leu)
19g.18783133G>ACA506051911COMPc.2148C>T (p.Thr716=)
c.1989C>T (p.Thr663=)
c.2049C>T (p.Thr683=)
19g.18783133G>CCA506051913COMPc.2148C>G (p.Thr716=)
c.1989C>G (p.Thr663=)
c.2049C>G (p.Thr683=)
19g.18783133G>TCA506051909COMPc.2148C>A (p.Thr716=)
c.1989C>A (p.Thr663=)
c.2049C>A (p.Thr683=)
 gnomAD v4
19g.18783134G>ACA404875051COMPc.2147C>T (p.Thr716Ile)
c.1988C>T (p.Thr663Ile)
c.2048C>T (p.Thr683Ile)
 dbSNP gnomAD v4
19g.18783134G>CCA404875052COMPc.2147C>G (p.Thr716Ser)
c.1988C>G (p.Thr663Ser)
c.2048C>G (p.Thr683Ser)
19g.18783134G=CA2326524016COMPc.2147C= (p.Thr716=)
c.1988C= (p.Thr663=)
c.2048C= (p.Thr683=)
19g.18783134G>TCA404875053COMPc.2147C>A (p.Thr716Asn)
c.1988C>A (p.Thr663Asn)
c.2048C>A (p.Thr683Asn)
19g.18783135T>ACA404875054COMPc.2146A>T (p.Thr716Ser)
c.1987A>T (p.Thr663Ser)
c.2047A>T (p.Thr683Ser)
19g.18783135T>CCA9316161COMPc.2146A>G (p.Thr716Ala)
c.1987A>G (p.Thr663Ala)
c.2047A>G (p.Thr683Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18783135T>GCA404875055COMPc.2146A>C (p.Thr716Pro)
c.1987A>C (p.Thr663Pro)
c.2047A>C (p.Thr683Pro)
19g.18783135T=CA2326524017COMPc.2146A= (p.Thr716=)
c.1987A= (p.Thr663=)
c.2047A= (p.Thr683=)
19g.18783136T>ACA506051915COMPc.2145A>T (p.Thr715=)
c.1986A>T (p.Thr662=)
c.2046A>T (p.Thr682=)
19g.18783136T>CCA506051916COMPc.2145A>G (p.Thr715=)
c.1986A>G (p.Thr662=)
c.2046A>G (p.Thr682=)
19g.18783136T>GCA506051917COMPc.2145A>C (p.Thr715=)
c.1986A>C (p.Thr662=)
c.2046A>C (p.Thr682=)
19g.18783137G>ACA404875058COMPc.2144C>T (p.Thr715Ile)
c.1985C>T (p.Thr662Ile)
c.2045C>T (p.Thr682Ile)
19g.18783137G>CCA404875057COMPc.2144C>G (p.Thr715Arg)
c.1985C>G (p.Thr662Arg)
c.2045C>G (p.Thr682Arg)
19g.18783137G>TCA404875056COMPc.2144C>A (p.Thr715Lys)
c.1985C>A (p.Thr662Lys)
c.2045C>A (p.Thr682Lys)
 gnomAD v4
19g.18783138T>ACA404875059COMPc.2143A>T (p.Thr715Ser)
c.1984A>T (p.Thr662Ser)
c.2044A>T (p.Thr682Ser)
19g.18783138T>CCA404875060COMPc.2143A>G (p.Thr715Ala)
c.1984A>G (p.Thr662Ala)
c.2044A>G (p.Thr682Ala)
19g.18783138T>GCA404875061COMPc.2143A>C (p.Thr715Pro)
c.1984A>C (p.Thr662Pro)
c.2044A>C (p.Thr682Pro)
19g.18783139G>ACA506051920COMPc.2142C>T (p.Asp714=)
c.1983C>T (p.Asp661=)
c.2043C>T (p.Asp681=)
 dbSNP
19g.18783139G>CCA404875062COMPc.2142C>G (p.Asp714Glu)
c.1983C>G (p.Asp661Glu)
c.2043C>G (p.Asp681Glu)
19g.18783139G=CA2326524018COMPc.2142C= (p.Asp714=)
c.1983C= (p.Asp661=)
c.2043C= (p.Asp681=)
19g.18783139G>TCA404875063COMPc.2142C>A (p.Asp714Glu)
c.1983C>A (p.Asp661Glu)
c.2043C>A (p.Asp681Glu)
 gnomAD v4
19g.18783140T>ACA404875064COMPc.2141A>T (p.Asp714Val)
c.1982A>T (p.Asp661Val)
c.2042A>T (p.Asp681Val)
19g.18783140T>CCA404875065COMPc.2141A>G (p.Asp714Gly)
c.1982A>G (p.Asp661Gly)
c.2042A>G (p.Asp681Gly)
 gnomAD v4
19g.18783140T>GCA404875066COMPc.2141A>C (p.Asp714Ala)
c.1982A>C (p.Asp661Ala)
c.2042A>C (p.Asp681Ala)
19g.18783141C>ACA404875067COMPc.2140G>T (p.Asp714Tyr)
c.1981G>T (p.Asp661Tyr)
c.2041G>T (p.Asp681Tyr)
19g.18783141C=CA2326524019COMPc.2140G= (p.Asp714=)
c.1981G= (p.Asp661=)
c.2041G= (p.Asp681=)
19g.18783141C>GCA404875068COMPc.2140G>C (p.Asp714His)
c.1981G>C (p.Asp661His)
c.2041G>C (p.Asp681His)

Number of alleles fetched