Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.121162131A>CCA383031469TBCEL-TECTA,TECTAc.5033A>C (p.Asp1678Ala)
c.5018A>C (p.Asp1673Ala)
c.2325A>C
n.954A>C
c.5975A>C (p.Asp1992Ala)
11g.121162131A>GCA383031471TBCEL-TECTA,TECTAc.5033A>G (p.Asp1678Gly)
c.5018A>G (p.Asp1673Gly)
c.2325A>G
n.954A>G
c.5975A>G (p.Asp1992Gly)
11g.121162131A>TCA383031472TBCEL-TECTA,TECTAc.5033A>T (p.Asp1678Val)
c.5018A>T (p.Asp1673Val)
c.2325A>T
n.954A>T
c.5975A>T (p.Asp1992Val)
11g.121162132C>ACA383031475TBCEL-TECTA,TECTAc.5034C>A (p.Asp1678Glu)
c.5019C>A (p.Asp1673Glu)
c.2326C>A
n.955C>A
c.5976C>A (p.Asp1992Glu)
11g.121162132C>GCA383031477TBCEL-TECTA,TECTAc.5034C>G (p.Asp1678Glu)
c.5019C>G (p.Asp1673Glu)
c.2326C>G
n.955C>G
c.5976C>G (p.Asp1992Glu)
11g.121162132C>TCA477384139TBCEL-TECTA,TECTAc.5034C>T (p.Asp1678=)
c.5019C>T (p.Asp1673=)
c.2326C>T
n.955C>T
c.5976C>T (p.Asp1992=)
11g.121162133A>CCA383031479TBCEL-TECTA,TECTAc.5035A>C (p.Asn1679His)
c.5020A>C (p.Asn1674His)
c.2327A>C
n.956A>C
c.5977A>C (p.Asn1993His)
 gnomAD v4
11g.121162133A>GCA383031481TBCEL-TECTA,TECTAc.5035A>G (p.Asn1679Asp)
c.5020A>G (p.Asn1674Asp)
c.2327A>G
n.956A>G
c.5977A>G (p.Asn1993Asp)
11g.121162133A>TCA383031483TBCEL-TECTA,TECTAc.5035A>T (p.Asn1679Tyr)
c.5020A>T (p.Asn1674Tyr)
c.2327A>T
n.956A>T
c.5977A>T (p.Asn1993Tyr)
11g.121162134A=CA2004742993TBCEL-TECTA,TECTAc.5036A= (p.Asn1679=)
c.5021A= (p.Asn1674=)
c.2328A=
n.957A=
c.5978A= (p.Asn1993=)
11g.121162134A>CCA383031488TBCEL-TECTA,TECTAc.5036A>C (p.Asn1679Thr)
c.5021A>C (p.Asn1674Thr)
c.2328A>C
n.957A>C
c.5978A>C (p.Asn1993Thr)
11g.121162134A>GCA383031485TBCEL-TECTA,TECTAc.5036A>G (p.Asn1679Ser)
c.5021A>G (p.Asn1674Ser)
c.2328A>G
n.957A>G
c.5978A>G (p.Asn1993Ser)
 gnomAD v4
11g.121162134A>TCA383031487TBCEL-TECTA,TECTAc.5036A>T (p.Asn1679Ile)
c.5021A>T (p.Asn1674Ile)
c.2328A>T
n.957A>T
c.5978A>T (p.Asn1993Ile)
 dbSNP
11g.121162135T>ACA383031491TBCEL-TECTA,TECTAc.5037T>A (p.Asn1679Lys)
c.5022T>A (p.Asn1674Lys)
c.2329T>A
n.958T>A
c.5979T>A (p.Asn1993Lys)
 dbSNP gnomAD v4
11g.121162135T>CCA477384140TBCEL-TECTA,TECTAc.5037T>C (p.Asn1679=)
c.5022T>C (p.Asn1674=)
c.2329T>C
n.958T>C
c.5979T>C (p.Asn1993=)
 dbSNP
11g.121162135T>GCA383031493TBCEL-TECTA,TECTAc.5037T>G (p.Asn1679Lys)
c.5022T>G (p.Asn1674Lys)
c.2329T>G
n.958T>G
c.5979T>G (p.Asn1993Lys)
11g.121162135T=CA2004743003TBCEL-TECTA,TECTAc.5037T= (p.Asn1679=)
c.5022T= (p.Asn1674=)
c.2329T=
n.958T=
c.5979T= (p.Asn1993=)
11g.121162136G>ACA383031496TBCEL-TECTA,TECTAc.5038G>A (p.Val1680Met)
c.5023G>A (p.Val1675Met)
c.2330G>A
n.959G>A
c.5980G>A (p.Val1994Met)
 gnomAD v4
11g.121162136G>CCA383031498TBCEL-TECTA,TECTAc.5038G>C (p.Val1680Leu)
c.5023G>C (p.Val1675Leu)
c.2330G>C
n.959G>C
c.5980G>C (p.Val1994Leu)
11g.121162136G>TCA383031500TBCEL-TECTA,TECTAc.5038G>T (p.Val1680Leu)
c.5023G>T (p.Val1675Leu)
c.2330G>T
n.959G>T
c.5980G>T (p.Val1994Leu)
 COSMIC
11g.121162137T>ACA383031503TBCEL-TECTA,TECTAc.5039T>A (p.Val1680Glu)
c.5024T>A (p.Val1675Glu)
c.2331T>A
n.960T>A
c.5981T>A (p.Val1994Glu)
11g.121162137T>CCA6327644TBCEL-TECTA,TECTAc.5039T>C (p.Val1680Ala)
c.5024T>C (p.Val1675Ala)
c.2331T>C
n.960T>C
c.5981T>C (p.Val1994Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121162137T>GCA383031505TBCEL-TECTA,TECTAc.5039T>G (p.Val1680Gly)
c.5024T>G (p.Val1675Gly)
c.2331T>G
n.960T>G
c.5981T>G (p.Val1994Gly)
11g.121162137T=CA2004743011TBCEL-TECTA,TECTAc.5039T= (p.Val1680=)
c.5024T= (p.Val1675=)
c.2331T=
n.960T=
c.5981T= (p.Val1994=)
11g.121162138G>ACA477384141TBCEL-TECTA,TECTAc.5040G>A (p.Val1680=)
c.5025G>A (p.Val1675=)
c.2332G>A
n.961G>A
c.5982G>A (p.Val1994=)
11g.121162138G>CCA477384143TBCEL-TECTA,TECTAc.5040G>C (p.Val1680=)
c.5025G>C (p.Val1675=)
c.2332G>C
n.961G>C
c.5982G>C (p.Val1994=)
11g.121162138G>TCA477384142TBCEL-TECTA,TECTAc.5040G>T (p.Val1680=)
c.5025G>T (p.Val1675=)
c.2332G>T
n.961G>T
c.5982G>T (p.Val1994=)
11g.121162139C>ACA383031507TBCEL-TECTA,TECTAc.5041C>A (p.His1681Asn)
c.5026C>A (p.His1676Asn)
c.2333C>A
n.962C>A
c.5983C>A (p.His1995Asn)
11g.121162139C>GCA383031509TBCEL-TECTA,TECTAc.5041C>G (p.His1681Asp)
c.5026C>G (p.His1676Asp)
c.2333C>G
n.962C>G
c.5983C>G (p.His1995Asp)
11g.121162139C>TCA383031511TBCEL-TECTA,TECTAc.5041C>T (p.His1681Tyr)
c.5026C>T (p.His1676Tyr)
c.2333C>T
n.962C>T
c.5983C>T (p.His1995Tyr)
11g.121162140A>CCA383031517TBCEL-TECTA,TECTAc.5042A>C (p.His1681Pro)
c.5027A>C (p.His1676Pro)
c.2334A>C
n.963A>C
c.5984A>C (p.His1995Pro)
11g.121162140A>GCA383031515TBCEL-TECTA,TECTAc.5042A>G (p.His1681Arg)
c.5027A>G (p.His1676Arg)
c.2334A>G
n.963A>G
c.5984A>G (p.His1995Arg)
 gnomAD v4
11g.121162140A>TCA383031513TBCEL-TECTA,TECTAc.5042A>T (p.His1681Leu)
c.5027A>T (p.His1676Leu)
c.2334A>T
n.963A>T
c.5984A>T (p.His1995Leu)
11g.121162141C>ACA383031519TBCEL-TECTA,TECTAc.5043C>A (p.His1681Gln)
c.5028C>A (p.His1676Gln)
c.2335C>A
n.964C>A
c.5985C>A (p.His1995Gln)
11g.121162141C>GCA383031521TBCEL-TECTA,TECTAc.5043C>G (p.His1681Gln)
c.5028C>G (p.His1676Gln)
c.2335C>G
n.964C>G
c.5985C>G (p.His1995Gln)
11g.121162141C>TCA477384144TBCEL-TECTA,TECTAc.5043C>T (p.His1681=)
c.5028C>T (p.His1676=)
c.2335C>T
n.964C>T
c.5985C>T (p.His1995=)
11g.121162142A>CCA383031523TBCEL-TECTA,TECTAc.5044A>C (p.Ile1682Leu)
c.5029A>C (p.Ile1677Leu)
c.2336A>C
n.965A>C
c.5986A>C (p.Ile1996Leu)
11g.121162142A>GCA383031525TBCEL-TECTA,TECTAc.5044A>G (p.Ile1682Val)
c.5029A>G (p.Ile1677Val)
c.2336A>G
n.965A>G
c.5986A>G (p.Ile1996Val)
11g.121162142A>TCA383031527TBCEL-TECTA,TECTAc.5044A>T (p.Ile1682Phe)
c.5029A>T (p.Ile1677Phe)
c.2336A>T
n.965A>T
c.5986A>T (p.Ile1996Phe)
11g.121162143T>ACA383031528TBCEL-TECTA,TECTAc.5045T>A (p.Ile1682Asn)
c.5030T>A (p.Ile1677Asn)
c.2337T>A
n.966T>A
c.5987T>A (p.Ile1996Asn)
11g.121162143T>CCA383031531TBCEL-TECTA,TECTAc.5045T>C (p.Ile1682Thr)
c.5030T>C (p.Ile1677Thr)
c.2337T>C
n.966T>C
c.5987T>C (p.Ile1996Thr)
11g.121162143T>GCA383031533TBCEL-TECTA,TECTAc.5045T>G (p.Ile1682Ser)
c.5030T>G (p.Ile1677Ser)
c.2337T>G
n.966T>G
c.5987T>G (p.Ile1996Ser)
11g.121162144C>ACA477384145TBCEL-TECTA,TECTAc.5046C>A (p.Ile1682=)
c.5031C>A (p.Ile1677=)
c.2338C>A
n.967C>A
c.5988C>A (p.Ile1996=)
 gnomAD v4
11g.121162144C=CA2004743020TBCEL-TECTA,TECTAc.5046C= (p.Ile1682=)
c.5031C= (p.Ile1677=)
c.2338C=
n.967C=
c.5988C= (p.Ile1996=)
11g.121162144C>GCA383031536TBCEL-TECTA,TECTAc.5046C>G (p.Ile1682Met)
c.5031C>G (p.Ile1677Met)
c.2338C>G
n.967C>G
c.5988C>G (p.Ile1996Met)
 dbSNP
11g.121162144C>TCA6327645TBCEL-TECTA,TECTAc.5046C>T (p.Ile1682=)
c.5031C>T (p.Ile1677=)
c.2338C>T
n.967C>T
c.5988C>T (p.Ile1996=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121162145C>ACA383031539TBCEL-TECTA,TECTAc.5047C>A (p.Gln1683Lys)
c.5032C>A (p.Gln1678Lys)
c.2339C>A
n.968C>A
c.5989C>A (p.Gln1997Lys)
 dbSNP
11g.121162145C=CA2004743029TBCEL-TECTA,TECTAc.5047C= (p.Gln1683=)
c.5032C= (p.Gln1678=)
c.2339C=
n.968C=
c.5989C= (p.Gln1997=)
11g.121162145C>GCA383031541TBCEL-TECTA,TECTAc.5047C>G (p.Gln1683Glu)
c.5032C>G (p.Gln1678Glu)
c.2339C>G
n.968C>G
c.5989C>G (p.Gln1997Glu)
11g.121162145C>TCA383031542TBCEL-TECTA,TECTAc.5047C>T (p.Gln1683Ter)
c.5032C>T (p.Gln1678Ter)
c.2339C>T
n.968C>T
c.5989C>T (p.Gln1997Ter)
11g.121162146A>CCA383031545TBCEL-TECTA,TECTAc.5048A>C (p.Gln1683Pro)
c.5033A>C (p.Gln1678Pro)
c.2340A>C
n.969A>C
c.5990A>C (p.Gln1997Pro)
11g.121162146A>GCA383031543TBCEL-TECTA,TECTAc.5048A>G (p.Gln1683Arg)
c.5033A>G (p.Gln1678Arg)
c.2340A>G
n.969A>G
c.5990A>G (p.Gln1997Arg)
 gnomAD v4
11g.121162146A>TCA383031544TBCEL-TECTA,TECTAc.5048A>T (p.Gln1683Leu)
c.5033A>T (p.Gln1678Leu)
c.2340A>T
n.969A>T
c.5990A>T (p.Gln1997Leu)
11g.121162147G>ACA477384146TBCEL-TECTA,TECTAc.5049G>A (p.Gln1683=)
c.5034G>A (p.Gln1678=)
c.2341G>A
n.970G>A
c.5991G>A (p.Gln1997=)
 dbSNP gnomAD v2 gnomAD v4
11g.121162147G>CCA383031546TBCEL-TECTA,TECTAc.5049G>C (p.Gln1683His)
c.5034G>C (p.Gln1678His)
c.2341G>C
n.970G>C
c.5991G>C (p.Gln1997His)
11g.121162147G=CA2004743036TBCEL-TECTA,TECTAc.5049G= (p.Gln1683=)
c.5034G= (p.Gln1678=)
c.2341G=
n.970G=
c.5991G= (p.Gln1997=)
11g.121162147G>TCA229847646TBCEL-TECTA,TECTAc.5049G>T (p.Gln1683His)
c.5034G>T (p.Gln1678His)
c.2341G>T
n.970G>T
c.5991G>T (p.Gln1997His)
 dbSNP gnomAD v4
11g.121162148A=CA2004743039TBCEL-TECTA,TECTAc.5050A= (p.Lys1684=)
c.5035A= (p.Lys1679=)
c.2342A=
n.971A=
c.5992A= (p.Lys1998=)
11g.121162148A>CCA383031547TBCEL-TECTA,TECTAc.5050A>C (p.Lys1684Gln)
c.5035A>C (p.Lys1679Gln)
c.2342A>C
n.971A>C
c.5992A>C (p.Lys1998Gln)
11g.121162148A>GCA383031548TBCEL-TECTA,TECTAc.5050A>G (p.Lys1684Glu)
c.5035A>G (p.Lys1679Glu)
c.2342A>G
n.971A>G
c.5992A>G (p.Lys1998Glu)
 dbSNP gnomAD v2 gnomAD v4
11g.121162148A>TCA383031549TBCEL-TECTA,TECTAc.5050A>T (p.Lys1684Ter)
c.5035A>T (p.Lys1679Ter)
c.2342A>T
n.971A>T
c.5992A>T (p.Lys1998Ter)
11g.121162149A>CCA383031550TBCEL-TECTA,TECTAc.5051A>C (p.Lys1684Thr)
c.5036A>C (p.Lys1679Thr)
c.2343A>C
n.972A>C
c.5993A>C (p.Lys1998Thr)
11g.121162149A>GCA383031551TBCEL-TECTA,TECTAc.5051A>G (p.Lys1684Arg)
c.5036A>G (p.Lys1679Arg)
c.2343A>G
n.972A>G
c.5993A>G (p.Lys1998Arg)
11g.121162149A>TCA383031552TBCEL-TECTA,TECTAc.5051A>T (p.Lys1684Met)
c.5036A>T (p.Lys1679Met)
c.2343A>T
n.972A>T
c.5993A>T (p.Lys1998Met)
11g.121162150G>ACA477384147TBCEL-TECTA,TECTAc.5052G>A (p.Lys1684=)
c.5037G>A (p.Lys1679=)
c.2344G>A
n.973G>A
c.5994G>A (p.Lys1998=)
11g.121162150G>CCA383031553TBCEL-TECTA,TECTAc.5052G>C (p.Lys1684Asn)
c.5037G>C (p.Lys1679Asn)
c.2344G>C
n.973G>C
c.5994G>C (p.Lys1998Asn)
11g.121162150G>TCA383031554TBCEL-TECTA,TECTAc.5052G>T (p.Lys1684Asn)
c.5037G>T (p.Lys1679Asn)
c.2344G>T
n.973G>T
c.5994G>T (p.Lys1998Asn)
11g.121162151A>CCA383031555TBCEL-TECTA,TECTAc.5053A>C (p.Met1685Leu)
c.5038A>C (p.Met1680Leu)
c.2345A>C
n.974A>C
c.5995A>C (p.Met1999Leu)
11g.121162151A>GCA383031556TBCEL-TECTA,TECTAc.5053A>G (p.Met1685Val)
c.5038A>G (p.Met1680Val)
c.2345A>G
n.974A>G
c.5995A>G (p.Met1999Val)
11g.121162151A>TCA383031557TBCEL-TECTA,TECTAc.5053A>T (p.Met1685Leu)
c.5038A>T (p.Met1680Leu)
c.2345A>T
n.974A>T
c.5995A>T (p.Met1999Leu)
11g.121162152T>ACA383031558TBCEL-TECTA,TECTAc.5054T>A (p.Met1685Lys)
c.5039T>A (p.Met1680Lys)
c.2346T>A
n.975T>A
c.5996T>A (p.Met1999Lys)
11g.121162152T>CCA383031559TBCEL-TECTA,TECTAc.5054T>C (p.Met1685Thr)
c.5039T>C (p.Met1680Thr)
c.2346T>C
n.975T>C
c.5996T>C (p.Met1999Thr)
11g.121162152T>GCA6327646TBCEL-TECTA,TECTAc.5054T>G (p.Met1685Arg)
c.5039T>G (p.Met1680Arg)
c.2346T>G
n.975T>G
c.5996T>G (p.Met1999Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121162152T=CA2004743041TBCEL-TECTA,TECTAc.5054T= (p.Met1685=)
c.5039T= (p.Met1680=)
c.2346T=
n.975T=
c.5996T= (p.Met1999=)
11g.121162153G>ACA383031560TBCEL-TECTA,TECTAc.5055G>A (p.Met1685Ile)
c.5040G>A (p.Met1680Ile)
c.2347G>A
n.976G>A
c.5997G>A (p.Met1999Ile)
11g.121162153G>CCA383031562TBCEL-TECTA,TECTAc.5055G>C (p.Met1685Ile)
c.5040G>C (p.Met1680Ile)
c.2347G>C
n.976G>C
c.5997G>C (p.Met1999Ile)
11g.121162153G>TCA383031561TBCEL-TECTA,TECTAc.5055G>T (p.Met1685Ile)
c.5040G>T (p.Met1680Ile)
c.2347G>T
n.976G>T
c.5997G>T (p.Met1999Ile)
 gnomAD v4
11g.121162154C>ACA383031563TBCEL-TECTA,TECTAc.5056C>A (p.Gln1686Lys)
c.5041C>A (p.Gln1681Lys)
c.2348C>A
n.977C>A
c.5998C>A (p.Gln2000Lys)
11g.121162154C>GCA383031565TBCEL-TECTA,TECTAc.5056C>G (p.Gln1686Glu)
c.5041C>G (p.Gln1681Glu)
c.2348C>G
n.977C>G
c.5998C>G (p.Gln2000Glu)
 gnomAD v4
11g.121162154C>TCA383031564TBCEL-TECTA,TECTAc.5056C>T (p.Gln1686Ter)
c.5041C>T (p.Gln1681Ter)
c.2348C>T
n.977C>T
c.5998C>T (p.Gln2000Ter)
 gnomAD v4
11g.121162155A>CCA383031566TBCEL-TECTA,TECTAc.5057A>C (p.Gln1686Pro)
c.5042A>C (p.Gln1681Pro)
c.2349A>C
n.978A>C
c.5999A>C (p.Gln2000Pro)
11g.121162155A>GCA383031567TBCEL-TECTA,TECTAc.5057A>G (p.Gln1686Arg)
c.5042A>G (p.Gln1681Arg)
c.2349A>G
n.978A>G
c.5999A>G (p.Gln2000Arg)
11g.121162155A>TCA383031568TBCEL-TECTA,TECTAc.5057A>T (p.Gln1686Leu)
c.5042A>T (p.Gln1681Leu)
c.2349A>T
n.978A>T
c.5999A>T (p.Gln2000Leu)
11g.121162156G>ACA477384148TBCEL-TECTA,TECTAc.5058G>A (p.Gln1686=)
c.5043G>A (p.Gln1681=)
c.2350G>A
n.979G>A
c.6000G>A (p.Gln2000=)
11g.121162156G>CCA383031569TBCEL-TECTA,TECTAc.5058G>C (p.Gln1686His)
c.5043G>C (p.Gln1681His)
c.2350G>C
n.979G>C
c.6000G>C (p.Gln2000His)
11g.121162156G>TCA383031570TBCEL-TECTA,TECTAc.5058G>T (p.Gln1686His)
c.5043G>T (p.Gln1681His)
c.2350G>T
n.979G>T
c.6000G>T (p.Gln2000His)
11g.121162157G>ACA383031571TBCEL-TECTA,TECTAc.5059G>A (p.Gly1687Ser)
c.5044G>A (p.Gly1682Ser)
c.2351G>A
n.980G>A
c.6001G>A (p.Gly2001Ser)
 gnomAD v4
11g.121162157G>CCA383031572TBCEL-TECTA,TECTAc.5059G>C (p.Gly1687Arg)
c.5044G>C (p.Gly1682Arg)
c.2351G>C
n.980G>C
c.6001G>C (p.Gly2001Arg)
11g.121162157G>TCA383031573TBCEL-TECTA,TECTAc.5059G>T (p.Gly1687Cys)
c.5044G>T (p.Gly1682Cys)
c.2351G>T
n.980G>T
c.6001G>T (p.Gly2001Cys)
 COSMIC
11g.121162158G>ACA383031574TBCEL-TECTA,TECTAc.5060G>A (p.Gly1687Asp)
c.5045G>A (p.Gly1682Asp)
c.2352G>A
n.981G>A
c.6002G>A (p.Gly2001Asp)
 gnomAD v4
11g.121162158G>CCA383031575TBCEL-TECTA,TECTAc.5060G>C (p.Gly1687Ala)
c.5045G>C (p.Gly1682Ala)
c.2352G>C
n.981G>C
c.6002G>C (p.Gly2001Ala)
11g.121162158G>TCA383031576TBCEL-TECTA,TECTAc.5060G>T (p.Gly1687Val)
c.5045G>T (p.Gly1682Val)
c.2352G>T
n.981G>T
c.6002G>T (p.Gly2001Val)
11g.121162159T>ACA477384150TBCEL-TECTA,TECTAc.5061T>A (p.Gly1687=)
c.5046T>A (p.Gly1682=)
c.2353T>A
n.982T>A
c.6003T>A (p.Gly2001=)
11g.121162159T>CCA477384151TBCEL-TECTA,TECTAc.5061T>C (p.Gly1687=)
c.5046T>C (p.Gly1682=)
c.2353T>C
n.982T>C
c.6003T>C (p.Gly2001=)
11g.121162159T>GCA477384152TBCEL-TECTA,TECTAc.5061T>G (p.Gly1687=)
c.5046T>G (p.Gly1682=)
c.2353T>G
n.982T>G
c.6003T>G (p.Gly2001=)
11g.121162160G>ACA383031584TBCEL-TECTA,TECTAc.5062G>A (p.Asp1688Asn)
c.5047G>A (p.Asp1683Asn)
c.2354G>A
n.983G>A
c.6004G>A (p.Asp2002Asn)
11g.121162160G>CCA383031578TBCEL-TECTA,TECTAc.5062G>C (p.Asp1688His)
c.5047G>C (p.Asp1683His)
c.2354G>C
n.983G>C
c.6004G>C (p.Asp2002His)
11g.121162160G>TCA383031577TBCEL-TECTA,TECTAc.5062G>T (p.Asp1688Tyr)
c.5047G>T (p.Asp1683Tyr)
c.2354G>T
n.983G>T
c.6004G>T (p.Asp2002Tyr)
11g.121162161A>CCA383031587TBCEL-TECTA,TECTAc.5063A>C (p.Asp1688Ala)
c.5048A>C (p.Asp1683Ala)
c.2355A>C
n.984A>C
c.6005A>C (p.Asp2002Ala)
11g.121162161A>GCA383031589TBCEL-TECTA,TECTAc.5063A>G (p.Asp1688Gly)
c.5048A>G (p.Asp1683Gly)
c.2355A>G
n.984A>G
c.6005A>G (p.Asp2002Gly)
11g.121162161A>TCA383031591TBCEL-TECTA,TECTAc.5063A>T (p.Asp1688Val)
c.5048A>T (p.Asp1683Val)
c.2355A>T
n.984A>T
c.6005A>T (p.Asp2002Val)
11g.121162162T>ACA383031593TBCEL-TECTA,TECTAc.5064T>A (p.Asp1688Glu)
c.5049T>A (p.Asp1683Glu)
c.2356T>A
n.985T>A
c.6006T>A (p.Asp2002Glu)
11g.121162162T>CCA477384153TBCEL-TECTA,TECTAc.5064T>C (p.Asp1688=)
c.5049T>C (p.Asp1683=)
c.2356T>C
n.985T>C
c.6006T>C (p.Asp2002=)
 gnomAD v4
11g.121162162T>GCA383031595TBCEL-TECTA,TECTAc.5064T>G (p.Asp1688Glu)
c.5049T>G (p.Asp1683Glu)
c.2356T>G
n.985T>G
c.6006T>G (p.Asp2002Glu)
 gnomAD v4
11g.121162163G>ACA383031597TBCEL-TECTA,TECTAc.5065G>A (p.Gly1689Ser)
c.5050G>A (p.Gly1684Ser)
c.2357G>A
n.986G>A
c.6007G>A (p.Gly2003Ser)
 dbSNP gnomAD v4
11g.121162163G>CCA383031598TBCEL-TECTA,TECTAc.5065G>C (p.Gly1689Arg)
c.5050G>C (p.Gly1684Arg)
c.2357G>C
n.986G>C
c.6007G>C (p.Gly2003Arg)
11g.121162163G=CA2004743044TBCEL-TECTA,TECTAc.5065G= (p.Gly1689=)
c.5050G= (p.Gly1684=)
c.2357G=
n.986G=
c.6007G= (p.Gly2003=)
11g.121162163G>TCA383031600TBCEL-TECTA,TECTAc.5065G>T (p.Gly1689Cys)
c.5050G>T (p.Gly1684Cys)
c.2357G>T
n.986G>T
c.6007G>T (p.Gly2003Cys)
11g.121162164G>ACA383031602TBCEL-TECTA,TECTAc.5066G>A (p.Gly1689Asp)
c.5051G>A (p.Gly1684Asp)
c.2358G>A
n.987G>A
c.6008G>A (p.Gly2003Asp)
11g.121162164G>CCA383031604TBCEL-TECTA,TECTAc.5066G>C (p.Gly1689Ala)
c.5051G>C (p.Gly1684Ala)
c.2358G>C
n.987G>C
c.6008G>C (p.Gly2003Ala)
11g.121162164G>TCA383031606TBCEL-TECTA,TECTAc.5066G>T (p.Gly1689Val)
c.5051G>T (p.Gly1684Val)
c.2358G>T
n.987G>T
c.6008G>T (p.Gly2003Val)
11g.121162165C>ACA477384154TBCEL-TECTA,TECTAc.5067C>A (p.Gly1689=)
c.5052C>A (p.Gly1684=)
c.2359C>A
n.988C>A
c.6009C>A (p.Gly2003=)
 COSMIC
11g.121162165C=CA2004743048TBCEL-TECTA,TECTAc.5067C= (p.Gly1689=)
c.5052C= (p.Gly1684=)
c.2359C=
n.988C=
c.6009C= (p.Gly2003=)
11g.121162165C>GCA477384155TBCEL-TECTA,TECTAc.5067C>G (p.Gly1689=)
c.5052C>G (p.Gly1684=)
c.2359C>G
n.988C>G
c.6009C>G (p.Gly2003=)
11g.121162165C>TCA477384156TBCEL-TECTA,TECTAc.5067C>T (p.Gly1689=)
c.5052C>T (p.Gly1684=)
c.2359C>T
n.988C>T
c.6009C>T (p.Gly2003=)
11g.121162166T>ACA383031611TBCEL-TECTA,TECTAc.5068T>A (p.Tyr1690Asn)
c.5053T>A (p.Tyr1685Asn)
c.2360T>A
n.989T>A
c.6010T>A (p.Tyr2004Asn)
 gnomAD v4
11g.121162166T>CCA383031610TBCEL-TECTA,TECTAc.5068T>C (p.Tyr1690His)
c.5053T>C (p.Tyr1685His)
c.2360T>C
n.989T>C
c.6010T>C (p.Tyr2004His)
11g.121162166T>GCA383031608TBCEL-TECTA,TECTAc.5068T>G (p.Tyr1690Asp)
c.5053T>G (p.Tyr1685Asp)
c.2360T>G
n.989T>G
c.6010T>G (p.Tyr2004Asp)
11g.121162166dupCA672604775TBCEL-TECTA,TECTAc.5068dup (p.Tyr1690LeufsTer?)
c.5053dup (p.Tyr1685LeufsTer?)
c.2360dup
n.989dup
c.6010dup (p.Tyr2004LeufsTer?)
 dbSNP gnomAD v3 gnomAD v4
11g.121162167A>CCA383031613TBCEL-TECTA,TECTAc.5069A>C (p.Tyr1690Ser)
c.5054A>C (p.Tyr1685Ser)
c.2361A>C
n.990A>C
c.6011A>C (p.Tyr2004Ser)
 gnomAD v4
11g.121162167A>GCA383031615TBCEL-TECTA,TECTAc.5069A>G (p.Tyr1690Cys)
c.5054A>G (p.Tyr1685Cys)
c.2361A>G
n.990A>G
c.6011A>G (p.Tyr2004Cys)
11g.121162167A>TCA383031617TBCEL-TECTA,TECTAc.5069A>T (p.Tyr1690Phe)
c.5054A>T (p.Tyr1685Phe)
c.2361A>T
n.990A>T
c.6011A>T (p.Tyr2004Phe)
11g.121162168C>ACA383031620TBCEL-TECTA,TECTAc.5070C>A (p.Tyr1690Ter)
c.5055C>A (p.Tyr1685Ter)
c.2362C>A
n.991C>A
c.6012C>A (p.Tyr2004Ter)
11g.121162168C=CA2004743058TBCEL-TECTA,TECTAc.5070C= (p.Tyr1690=)
c.5055C= (p.Tyr1685=)
c.2362C=
n.991C=
c.6012C= (p.Tyr2004=)
11g.121162168C>GCA383031622TBCEL-TECTA,TECTAc.5070C>G (p.Tyr1690Ter)
c.5055C>G (p.Tyr1685Ter)
c.2362C>G
n.991C>G
c.6012C>G (p.Tyr2004Ter)
11g.121162168C>TCA477384160TBCEL-TECTA,TECTAc.5070C>T (p.Tyr1690=)
c.5055C>T (p.Tyr1685=)
c.2362C>T
n.991C>T
c.6012C>T (p.Tyr2004=)
 dbSNP
11g.121162169T>ACA383031624TBCEL-TECTA,TECTAc.5071T>A (p.Cys1691Ser)
c.5056T>A (p.Cys1686Ser)
c.2363T>A
n.992T>A
c.6013T>A (p.Cys2005Ser)
11g.121162169T>CCA383031626TBCEL-TECTA,TECTAc.5071T>C (p.Cys1691Arg)
c.5056T>C (p.Cys1686Arg)
c.2363T>C
n.992T>C
c.6013T>C (p.Cys2005Arg)
 dbSNP gnomAD v2 gnomAD v4
11g.121162169T>GCA383031629TBCEL-TECTA,TECTAc.5071T>G (p.Cys1691Gly)
c.5056T>G (p.Cys1686Gly)
c.2363T>G
n.992T>G
c.6013T>G (p.Cys2005Gly)
 gnomAD v4
11g.121162169T=CA2004743069TBCEL-TECTA,TECTAc.5071T= (p.Cys1691=)
c.5056T= (p.Cys1686=)
c.2363T=
n.992T=
c.6013T= (p.Cys2005=)
11g.121162170G>ACA383031631TBCEL-TECTA,TECTAc.5072G>A (p.Cys1691Tyr)
c.5057G>A (p.Cys1686Tyr)
c.2364G>A
n.993G>A
c.6014G>A (p.Cys2005Tyr)
11g.121162170G>CCA383031633TBCEL-TECTA,TECTAc.5072G>C (p.Cys1691Ser)
c.5057G>C (p.Cys1686Ser)
c.2364G>C
n.993G>C
c.6014G>C (p.Cys2005Ser)
11g.121162170G>TCA383031635TBCEL-TECTA,TECTAc.5072G>T (p.Cys1691Phe)
c.5057G>T (p.Cys1686Phe)
c.2364G>T
n.993G>T
c.6014G>T (p.Cys2005Phe)
11g.121162171C>ACA383031638TBCEL-TECTA,TECTAc.5073C>A (p.Cys1691Ter)
c.5058C>A (p.Cys1686Ter)
c.2365C>A
n.994C>A
c.6015C>A (p.Cys2005Ter)
11g.121162171C=CA2004743074TBCEL-TECTA,TECTAc.5073C= (p.Cys1691=)
c.5058C= (p.Cys1686=)
c.2365C=
n.994C=
c.6015C= (p.Cys2005=)
11g.121162171C>GCA6327647TBCEL-TECTA,TECTAc.5073C>G (p.Cys1691Trp)
c.5058C>G (p.Cys1686Trp)
c.2365C>G
n.994C>G
c.6015C>G (p.Cys2005Trp)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121162171C>TCA477384168TBCEL-TECTA,TECTAc.5073C>T (p.Cys1691=)
c.5058C>T (p.Cys1686=)
c.2365C>T
n.994C>T
c.6015C>T (p.Cys2005=)
11g.121162172C>ACA383031644TBCEL-TECTA,TECTAc.5074C>A (p.Leu1692Met)
c.5059C>A (p.Leu1687Met)
c.2366C>A
n.995C>A
c.6016C>A (p.Leu2006Met)
 ClinVar dbSNP gnomAD v4
11g.121162172C=CA2004743086TBCEL-TECTA,TECTAc.5074C= (p.Leu1692=)
c.5059C= (p.Leu1687=)
c.2366C=
n.995C=
c.6016C= (p.Leu2006=)
11g.121162172C>GCA383031642TBCEL-TECTA,TECTAc.5074C>G (p.Leu1692Val)
c.5059C>G (p.Leu1687Val)
c.2366C>G
n.995C>G
c.6016C>G (p.Leu2006Val)
 gnomAD v4
11g.121162172C>TCA477384170TBCEL-TECTA,TECTAc.5074C>T (p.Leu1692=)
c.5059C>T (p.Leu1687=)
c.2366C>T
n.995C>T
c.6016C>T (p.Leu2006=)
11g.121162173T>ACA383031647TBCEL-TECTA,TECTAc.5075T>A (p.Leu1692Gln)
c.5060T>A (p.Leu1687Gln)
c.2367T>A
n.996T>A
c.6017T>A (p.Leu2006Gln)
11g.121162173T>CCA383031648TBCEL-TECTA,TECTAc.5075T>C (p.Leu1692Pro)
c.5060T>C (p.Leu1687Pro)
c.2367T>C
n.996T>C
c.6017T>C (p.Leu2006Pro)
11g.121162173T>GCA383031650TBCEL-TECTA,TECTAc.5075T>G (p.Leu1692Arg)
c.5060T>G (p.Leu1687Arg)
c.2367T>G
n.996T>G
c.6017T>G (p.Leu2006Arg)
11g.121162174G>ACA477384176TBCEL-TECTA,TECTAc.5076G>A (p.Leu1692=)
c.5061G>A (p.Leu1687=)
c.2368G>A
n.997G>A
c.6018G>A (p.Leu2006=)
11g.121162174G>CCA477384178TBCEL-TECTA,TECTAc.5076G>C (p.Leu1692=)
c.5061G>C (p.Leu1687=)
c.2368G>C
n.997G>C
c.6018G>C (p.Leu2006=)
11g.121162174G>TCA477384174TBCEL-TECTA,TECTAc.5076G>T (p.Leu1692=)
c.5061G>T (p.Leu1687=)
c.2368G>T
n.997G>T
c.6018G>T (p.Leu2006=)
11g.121162175A>CCA383031653TBCEL-TECTA,TECTAc.5077A>C (p.Lys1693Gln)
c.5062A>C (p.Lys1688Gln)
c.2369A>C
n.998A>C
c.6019A>C (p.Lys2007Gln)
11g.121162175A>GCA383031654TBCEL-TECTA,TECTAc.5077A>G (p.Lys1693Glu)
c.5062A>G (p.Lys1688Glu)
c.2369A>G
n.998A>G
c.6019A>G (p.Lys2007Glu)
11g.121162175A>TCA383031656TBCEL-TECTA,TECTAc.5077A>T (p.Lys1693Ter)
c.5062A>T (p.Lys1688Ter)
c.2369A>T
n.998A>T
c.6019A>T (p.Lys2007Ter)
11g.121162176A>CCA383031659TBCEL-TECTA,TECTAc.5078A>C (p.Lys1693Thr)
c.5063A>C (p.Lys1688Thr)
c.2370A>C
n.999A>C
c.6020A>C (p.Lys2007Thr)
11g.121162176A>GCA383031661TBCEL-TECTA,TECTAc.5078A>G (p.Lys1693Arg)
c.5063A>G (p.Lys1688Arg)
c.2370A>G
n.999A>G
c.6020A>G (p.Lys2007Arg)
11g.121162176A>TCA383031663TBCEL-TECTA,TECTAc.5078A>T (p.Lys1693Met)
c.5063A>T (p.Lys1688Met)
c.2370A>T
n.999A>T
c.6020A>T (p.Lys2007Met)
11g.121162177G>ACA6327648TBCEL-TECTA,TECTAc.5079G>A (p.Lys1693=)
c.5064G>A (p.Lys1688=)
c.2371G>A
n.1000G>A
c.6021G>A (p.Lys2007=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121162177G>CCA383031667TBCEL-TECTA,TECTAc.5079G>C (p.Lys1693Asn)
c.5064G>C (p.Lys1688Asn)
c.2371G>C
n.1000G>C
c.6021G>C (p.Lys2007Asn)
11g.121162177G=CA2004743096TBCEL-TECTA,TECTAc.5079G= (p.Lys1693=)
c.5064G= (p.Lys1688=)
c.2371G=
n.1000G=
c.6021G= (p.Lys2007=)
11g.121162177G>TCA383031669TBCEL-TECTA,TECTAc.5079G>T (p.Lys1693Asn)
c.5064G>T (p.Lys1688Asn)
c.2371G>T
n.1000G>T
c.6021G>T (p.Lys2007Asn)
11g.121162178C>ACA383031676TBCEL-TECTA,TECTAc.5080C>A (p.Leu1694Ile)
c.5065C>A (p.Leu1689Ile)
c.2372C>A
n.1001C>A
c.6022C>A (p.Leu2008Ile)
11g.121162178C>GCA383031674TBCEL-TECTA,TECTAc.5080C>G (p.Leu1694Val)
c.5065C>G (p.Leu1689Val)
c.2372C>G
n.1001C>G
c.6022C>G (p.Leu2008Val)
11g.121162178C>TCA383031673TBCEL-TECTA,TECTAc.5080C>T (p.Leu1694Phe)
c.5065C>T (p.Leu1689Phe)
c.2372C>T
n.1001C>T
c.6022C>T (p.Leu2008Phe)
11g.121162179T>ACA383031680TBCEL-TECTA,TECTAc.5081T>A (p.Leu1694His)
c.5066T>A (p.Leu1689His)
c.2373T>A
n.1002T>A
c.6023T>A (p.Leu2008His)
11g.121162179T>CCA383031682TBCEL-TECTA,TECTAc.5081T>C (p.Leu1694Pro)
c.5066T>C (p.Leu1689Pro)
c.2373T>C
n.1002T>C
c.6023T>C (p.Leu2008Pro)
11g.121162179T>GCA383031683TBCEL-TECTA,TECTAc.5081T>G (p.Leu1694Arg)
c.5066T>G (p.Leu1689Arg)
c.2373T>G
n.1002T>G
c.6023T>G (p.Leu2008Arg)
11g.121162180C>ACA477384188TBCEL-TECTA,TECTAc.5082C>A (p.Leu1694=)
c.5067C>A (p.Leu1689=)
c.2374C>A
n.1003C>A
c.6024C>A (p.Leu2008=)
11g.121162180C=CA2004743099TBCEL-TECTA,TECTAc.5082C= (p.Leu1694=)
c.5067C= (p.Leu1689=)
c.2374C=
n.1003C=
c.6024C= (p.Leu2008=)
11g.121162180C>GCA477384191TBCEL-TECTA,TECTAc.5082C>G (p.Leu1694=)
c.5067C>G (p.Leu1689=)
c.2374C>G
n.1003C>G
c.6024C>G (p.Leu2008=)
11g.121162180C>TCA477384189TBCEL-TECTA,TECTAc.5082C>T (p.Leu1694=)
c.5067C>T (p.Leu1689=)
c.2374C>T
n.1003C>T
c.6024C>T (p.Leu2008=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.121162181A>CCA383031687TBCEL-TECTA,TECTAc.5083A>C (p.Thr1695Pro)
c.5068A>C (p.Thr1690Pro)
c.2375A>C
n.1004A>C
c.6025A>C (p.Thr2009Pro)
11g.121162181A>GCA383031688TBCEL-TECTA,TECTAc.5083A>G (p.Thr1695Ala)
c.5068A>G (p.Thr1690Ala)
c.2375A>G
n.1004A>G
c.6025A>G (p.Thr2009Ala)
11g.121162181A>TCA383031690TBCEL-TECTA,TECTAc.5083A>T (p.Thr1695Ser)
c.5068A>T (p.Thr1690Ser)
c.2375A>T
n.1004A>T
c.6025A>T (p.Thr2009Ser)
11g.121162182C>ACA383031693TBCEL-TECTA,TECTAc.5084C>A (p.Thr1695Asn)
c.5069C>A (p.Thr1690Asn)
c.2376C>A
n.1005C>A
c.6026C>A (p.Thr2009Asn)
11g.121162182C>GCA383031694TBCEL-TECTA,TECTAc.5084C>G (p.Thr1695Ser)
c.5069C>G (p.Thr1690Ser)
c.2376C>G
n.1005C>G
c.6026C>G (p.Thr2009Ser)
11g.121162182C>TCA383031696TBCEL-TECTA,TECTAc.5084C>T (p.Thr1695Ile)
c.5069C>T (p.Thr1690Ile)
c.2376C>T
n.1005C>T
c.6026C>T (p.Thr2009Ile)
11g.121162183C>ACA477384197TBCEL-TECTA,TECTAc.5085C>A (p.Thr1695=)
c.5070C>A (p.Thr1690=)
c.2377C>A
n.1006C>A
c.6027C>A (p.Thr2009=)
 dbSNP gnomAD v2 gnomAD v4
11g.121162183C=CA2004743104TBCEL-TECTA,TECTAc.5085C= (p.Thr1695=)
c.5070C= (p.Thr1690=)
c.2377C=
n.1006C=
c.6027C= (p.Thr2009=)
11g.121162183C>GCA477384198TBCEL-TECTA,TECTAc.5085C>G (p.Thr1695=)
c.5070C>G (p.Thr1690=)
c.2377C>G
n.1006C>G
c.6027C>G (p.Thr2009=)
 gnomAD v4
11g.121162183C>TCA6327649TBCEL-TECTA,TECTAc.5085C>T (p.Thr1695=)
c.5070C>T (p.Thr1690=)
c.2377C>T
n.1006C>T
c.6027C>T (p.Thr2009=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.121162184G>ACA229847661TBCEL-TECTA,TECTAc.5086G>A (p.Asp1696Asn)
c.5071G>A (p.Asp1691Asn)
c.2378G>A
n.1007G>A
c.6028G>A (p.Asp2010Asn)
 ClinVar dbSNP gnomAD v4
11g.121162184G>CCA383031700TBCEL-TECTA,TECTAc.5086G>C (p.Asp1696His)
c.5071G>C (p.Asp1691His)
c.2378G>C
n.1007G>C
c.6028G>C (p.Asp2010His)
 gnomAD v4
11g.121162184G=CA2004743115TBCEL-TECTA,TECTAc.5086G= (p.Asp1696=)
c.5071G= (p.Asp1691=)
c.2378G=
n.1007G=
c.6028G= (p.Asp2010=)
11g.121162184G>TCA383031702TBCEL-TECTA,TECTAc.5086G>T (p.Asp1696Tyr)
c.5071G>T (p.Asp1691Tyr)
c.2378G>T
n.1007G>T
c.6028G>T (p.Asp2010Tyr)
11g.121162185A>CCA383031709TBCEL-TECTA,TECTAc.5087A>C (p.Asp1696Ala)
c.5072A>C (p.Asp1691Ala)
c.2379A>C
n.1008A>C
c.6029A>C (p.Asp2010Ala)
11g.121162185A>GCA383031707TBCEL-TECTA,TECTAc.5087A>G (p.Asp1696Gly)
c.5072A>G (p.Asp1691Gly)
c.2379A>G
n.1008A>G
c.6029A>G (p.Asp2010Gly)
11g.121162185A>TCA383031705TBCEL-TECTA,TECTAc.5087A>T (p.Asp1696Val)
c.5072A>T (p.Asp1691Val)
c.2379A>T
n.1008A>T
c.6029A>T (p.Asp2010Val)
11g.121162186C>ACA383031711TBCEL-TECTA,TECTAc.5088C>A (p.Asp1696Glu)
c.5073C>A (p.Asp1691Glu)
c.2380C>A
n.1009C>A
c.6030C>A (p.Asp2010Glu)
11g.121162186C>GCA383031713TBCEL-TECTA,TECTAc.5088C>G (p.Asp1696Glu)
c.5073C>G (p.Asp1691Glu)
c.2380C>G
n.1009C>G
c.6030C>G (p.Asp2010Glu)
11g.121162186C>TCA477384211TBCEL-TECTA,TECTAc.5088C>T (p.Asp1696=)
c.5073C>T (p.Asp1691=)
c.2380C>T
n.1009C>T
c.6030C>T (p.Asp2010=)
 gnomAD v4
11g.121162187A>CCA383031715TBCEL-TECTA,TECTAc.5089A>C (p.Met1697Leu)
c.5074A>C (p.Met1692Leu)
c.2381A>C
n.1010A>C
c.6031A>C (p.Met2011Leu)
11g.121162187A>GCA383031717TBCEL-TECTA,TECTAc.5089A>G (p.Met1697Val)
c.5074A>G (p.Met1692Val)
c.2381A>G
n.1010A>G
c.6031A>G (p.Met2011Val)
 gnomAD v4
11g.121162187A>TCA383031719TBCEL-TECTA,TECTAc.5089A>T (p.Met1697Leu)
c.5074A>T (p.Met1692Leu)
c.2381A>T
n.1010A>T
c.6031A>T (p.Met2011Leu)
11g.121162188T>ACA383031721TBCEL-TECTA,TECTAc.5090T>A (p.Met1697Lys)
c.5075T>A (p.Met1692Lys)
c.2382T>A
n.1011T>A
c.6032T>A (p.Met2011Lys)
11g.121162188T>CCA383031722TBCEL-TECTA,TECTAc.5090T>C (p.Met1697Thr)
c.5075T>C (p.Met1692Thr)
c.2382T>C
n.1011T>C
c.6032T>C (p.Met2011Thr)
11g.121162188T>GCA383031723TBCEL-TECTA,TECTAc.5090T>G (p.Met1697Arg)
c.5075T>G (p.Met1692Arg)
c.2382T>G
n.1011T>G
c.6032T>G (p.Met2011Arg)
11g.121162189G>ACA6327650TBCEL-TECTA,TECTAc.5091G>A (p.Met1697Ile)
c.5076G>A (p.Met1692Ile)
c.2383G>A
n.1012G>A
c.6033G>A (p.Met2011Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.121162189G>CCA383031725TBCEL-TECTA,TECTAc.5091G>C (p.Met1697Ile)
c.5076G>C (p.Met1692Ile)
c.2383G>C
n.1012G>C
c.6033G>C (p.Met2011Ile)
11g.121162189G=CA2004743135TBCEL-TECTA,TECTAc.5091G= (p.Met1697=)
c.5076G= (p.Met1692=)
c.2383G=
n.1012G=
c.6033G= (p.Met2011=)
11g.121162189G>TCA383031727TBCEL-TECTA,TECTAc.5091G>T (p.Met1697Ile)
c.5076G>T (p.Met1692Ile)
c.2383G>T
n.1012G>T
c.6033G>T (p.Met2011Ile)
11g.121162190_121162204delCA2725115366TBCEL-TECTA,TECTAc.5092_5106del (p.Lys1698_Gln1702del)
c.5077_5091del (p.Lys1693_Gln1697del)
c.2384_2398del
n.1013_1027del
c.6034_6048del (p.Lys2012_Gln2016del)
 dbSNP
11g.121162190A=CA2004743139TBCEL-TECTA,TECTAc.5092A= (p.Lys1698=)
c.5077A= (p.Lys1693=)
c.2384A=
n.1013A=
c.6034A= (p.Lys2012=)
11g.121162190A>CCA383031729TBCEL-TECTA,TECTAc.5092A>C (p.Lys1698Gln)
c.5077A>C (p.Lys1693Gln)
c.2384A>C
n.1013A>C
c.6034A>C (p.Lys2012Gln)
11g.121162190A>GCA383031731TBCEL-TECTA,TECTAc.5092A>G (p.Lys1698Glu)
c.5077A>G (p.Lys1693Glu)
c.2384A>G
n.1013A>G
c.6034A>G (p.Lys2012Glu)
 dbSNP gnomAD v2 gnomAD v4
11g.121162190A>TCA383031733TBCEL-TECTA,TECTAc.5092A>T (p.Lys1698Ter)
c.5077A>T (p.Lys1693Ter)
c.2384A>T
n.1013A>T
c.6034A>T (p.Lys2012Ter)
11g.121162191A>CCA383031738TBCEL-TECTA,TECTAc.5093A>C (p.Lys1698Thr)
c.5078A>C (p.Lys1693Thr)
c.2385A>C
n.1014A>C
c.6035A>C (p.Lys2012Thr)
11g.121162191A>GCA383031740TBCEL-TECTA,TECTAc.5093A>G (p.Lys1698Arg)
c.5078A>G (p.Lys1693Arg)
c.2385A>G
n.1014A>G
c.6035A>G (p.Lys2012Arg)
11g.121162191A>TCA383031736TBCEL-TECTA,TECTAc.5093A>T (p.Lys1698Met)
c.5078A>T (p.Lys1693Met)
c.2385A>T
n.1014A>T
c.6035A>T (p.Lys2012Met)
11g.121162191_121162213delinsAGGGCTTCTTCCAGCCCTGCTATCA2004743142TBCEL-TECTA,TECTAc.5093_5115delinsAGGGCTTCTTCCAGCCCTGCTAT (p.Lys1698=)
c.5078_5100delinsAGGGCTTCTTCCAGCCCTGCTAT (p.Lys1693=)
c.2385_2407delinsAGGGCTTCTTCCAGCCCTGCTAT
n.1014_1036delinsAGGGCTTCTTCCAGCCCTGCTAT
c.6035_6057delinsAGGGCTTCTTCCAGCCCTGCTAT (p.Lys2012=)
11g.121162192G>ACA477384219TBCEL-TECTA,TECTAc.5094G>A (p.Lys1698=)
c.5079G>A (p.Lys1693=)
c.2386G>A
n.1015G>A
c.6036G>A (p.Lys2012=)
 gnomAD v4
11g.121162192G>CCA383031742TBCEL-TECTA,TECTAc.5094G>C (p.Lys1698Asn)
c.5079G>C (p.Lys1693Asn)
c.2386G>C
n.1015G>C
c.6036G>C (p.Lys2012Asn)
11g.121162192G>TCA383031744TBCEL-TECTA,TECTAc.5094G>T (p.Lys1698Asn)
c.5079G>T (p.Lys1693Asn)
c.2386G>T
n.1015G>T
c.6036G>T (p.Lys2012Asn)
11g.121162200_121162221delCA602580328TBCEL-TECTA,TECTAc.5102_5123del (p.Phe1701SerfsTer?)
c.5087_5108del (p.Phe1696SerfsTer?)
c.2394_2415del
n.1023_1044del
c.6044_6065del (p.Phe2015SerfsTer?)
 dbSNP gnomAD v2 gnomAD v4
11g.121162193G>ACA383031747TBCEL-TECTA,TECTAc.5095G>A (p.Gly1699Ser)
c.5080G>A (p.Gly1694Ser)
c.2387G>A
n.1016G>A
c.6037G>A (p.Gly2013Ser)
11g.121162193G>CCA383031748TBCEL-TECTA,TECTAc.5095G>C (p.Gly1699Arg)
c.5080G>C (p.Gly1694Arg)
c.2387G>C
n.1016G>C
c.6037G>C (p.Gly2013Arg)
11g.121162193G>TCA383031750TBCEL-TECTA,TECTAc.5095G>T (p.Gly1699Cys)
c.5080G>T (p.Gly1694Cys)
c.2387G>T
n.1016G>T
c.6037G>T (p.Gly2013Cys)
11g.121162193_121162194delinsAACA645572012TBCEL-TECTA,TECTAc.5095_5096delinsAA (p.Gly1699Asn)
c.5080_5081delinsAA (p.Gly1694Asn)
c.2387_2388delinsAA
n.1016_1017delinsAA
c.6037_6038delinsAA (p.Gly2013Asn)
 COSMIC
11g.121162194G>ACA383031752TBCEL-TECTA,TECTAc.5096G>A (p.Gly1699Asp)
c.5081G>A (p.Gly1694Asp)
c.2388G>A
n.1017G>A
c.6038G>A (p.Gly2013Asp)
 gnomAD v4
11g.121162194G>CCA383031754TBCEL-TECTA,TECTAc.5096G>C (p.Gly1699Ala)
c.5081G>C (p.Gly1694Ala)
c.2388G>C
n.1017G>C
c.6038G>C (p.Gly2013Ala)
11g.121162194G>TCA383031756TBCEL-TECTA,TECTAc.5096G>T (p.Gly1699Val)
c.5081G>T (p.Gly1694Val)
c.2388G>T
n.1017G>T
c.6038G>T (p.Gly2013Val)
11g.121162195C>ACA477384224TBCEL-TECTA,TECTAc.5097C>A (p.Gly1699=)
c.5082C>A (p.Gly1694=)
c.2389C>A
n.1018C>A
c.6039C>A (p.Gly2013=)
11g.121162195C>GCA477384227TBCEL-TECTA,TECTAc.5097C>G (p.Gly1699=)
c.5082C>G (p.Gly1694=)
c.2389C>G
n.1018C>G
c.6039C>G (p.Gly2013=)
11g.121162195C>TCA477384222TBCEL-TECTA,TECTAc.5097C>T (p.Gly1699=)
c.5082C>T (p.Gly1694=)
c.2389C>T
n.1018C>T
c.6039C>T (p.Gly2013=)
 COSMIC
11g.121162196T>ACA383031758TBCEL-TECTA,TECTAc.5098T>A (p.Phe1700Ile)
c.5083T>A (p.Phe1695Ile)
c.2390T>A
n.1019T>A
c.6040T>A (p.Phe2014Ile)
11g.121162196T>CCA383031760TBCEL-TECTA,TECTAc.5098T>C (p.Phe1700Leu)
c.5083T>C (p.Phe1695Leu)
c.2390T>C
n.1019T>C
c.6040T>C (p.Phe2014Leu)
 dbSNP gnomAD v2 gnomAD v4
11g.121162196T>GCA383031762TBCEL-TECTA,TECTAc.5098T>G (p.Phe1700Val)
c.5083T>G (p.Phe1695Val)
c.2390T>G
n.1019T>G
c.6040T>G (p.Phe2014Val)
11g.121162196T=CA2004743153TBCEL-TECTA,TECTAc.5098T= (p.Phe1700=)
c.5083T= (p.Phe1695=)
c.2390T=
n.1019T=
c.6040T= (p.Phe2014=)
11g.121162197T>ACA383031765TBCEL-TECTA,TECTAc.5099T>A (p.Phe1700Tyr)
c.5084T>A (p.Phe1695Tyr)
c.2391T>A
n.1020T>A
c.6041T>A (p.Phe2014Tyr)
11g.121162197T>CCA383031767TBCEL-TECTA,TECTAc.5099T>C (p.Phe1700Ser)
c.5084T>C (p.Phe1695Ser)
c.2391T>C
n.1020T>C
c.6041T>C (p.Phe2014Ser)
11g.121162197T>GCA383031769TBCEL-TECTA,TECTAc.5099T>G (p.Phe1700Cys)
c.5084T>G (p.Phe1695Cys)
c.2391T>G
n.1020T>G
c.6041T>G (p.Phe2014Cys)
11g.121162198C>ACA383031771TBCEL-TECTA,TECTAc.5100C>A (p.Phe1700Leu)
c.5085C>A (p.Phe1695Leu)
c.2392C>A
n.1021C>A
c.6042C>A (p.Phe2014Leu)
11g.121162198C=CA2004743160TBCEL-TECTA,TECTAc.5100C= (p.Phe1700=)
c.5085C= (p.Phe1695=)
c.2392C=
n.1021C=
c.6042C= (p.Phe2014=)
11g.121162198C>GCA383031773TBCEL-TECTA,TECTAc.5100C>G (p.Phe1700Leu)
c.5085C>G (p.Phe1695Leu)
c.2392C>G
n.1021C>G
c.6042C>G (p.Phe2014Leu)
11g.121162198C>TCA477384233TBCEL-TECTA,TECTAc.5100C>T (p.Phe1700=)
c.5085C>T (p.Phe1695=)
c.2392C>T
n.1021C>T
c.6042C>T (p.Phe2014=)
 dbSNP gnomAD v2 gnomAD v4
11g.121162199T>ACA383031776TBCEL-TECTA,TECTAc.5101T>A (p.Phe1701Ile)
c.5086T>A (p.Phe1696Ile)
c.2393T>A
n.1022T>A
c.6043T>A (p.Phe2015Ile)
11g.121162199T>CCA383031778TBCEL-TECTA,TECTAc.5101T>C (p.Phe1701Leu)
c.5086T>C (p.Phe1696Leu)
c.2393T>C
n.1022T>C
c.6043T>C (p.Phe2015Leu)
11g.121162199T>GCA383031780TBCEL-TECTA,TECTAc.5101T>G (p.Phe1701Val)
c.5086T>G (p.Phe1696Val)
c.2393T>G
n.1022T>G
c.6043T>G (p.Phe2015Val)
11g.121162200T>ACA383031781TBCEL-TECTA,TECTAc.5102T>A (p.Phe1701Tyr)
c.5087T>A (p.Phe1696Tyr)
c.2394T>A
n.1023T>A
c.6044T>A (p.Phe2015Tyr)
11g.121162200T>CCA383031782TBCEL-TECTA,TECTAc.5102T>C (p.Phe1701Ser)
c.5087T>C (p.Phe1696Ser)
c.2394T>C
n.1023T>C
c.6044T>C (p.Phe2015Ser)
11g.121162200T>GCA383031784TBCEL-TECTA,TECTAc.5102T>G (p.Phe1701Cys)
c.5087T>G (p.Phe1696Cys)
c.2394T>G
n.1023T>G
c.6044T>G (p.Phe2015Cys)
11g.121162201C>ACA383031786TBCEL-TECTA,TECTAc.5103C>A (p.Phe1701Leu)
c.5088C>A (p.Phe1696Leu)
c.2395C>A
n.1024C>A
c.6045C>A (p.Phe2015Leu)
11g.121162201C>GCA383031787TBCEL-TECTA,TECTAc.5103C>G (p.Phe1701Leu)
c.5088C>G (p.Phe1696Leu)
c.2395C>G
n.1024C>G
c.6045C>G (p.Phe2015Leu)
11g.121162201C>TCA477384237TBCEL-TECTA,TECTAc.5103C>T (p.Phe1701=)
c.5088C>T (p.Phe1696=)
c.2395C>T
n.1024C>T
c.6045C>T (p.Phe2015=)
 gnomAD v4
11g.121162202C>ACA383031791TBCEL-TECTA,TECTAc.5104C>A (p.Gln1702Lys)
c.5089C>A (p.Gln1697Lys)
c.2396C>A
n.1025C>A
c.6046C>A (p.Gln2016Lys)
11g.121162202C>GCA383031792TBCEL-TECTA,TECTAc.5104C>G (p.Gln1702Glu)
c.5089C>G (p.Gln1697Glu)
c.2396C>G
n.1025C>G
c.6046C>G (p.Gln2016Glu)
11g.121162202C>TCA383031794TBCEL-TECTA,TECTAc.5104C>T (p.Gln1702Ter)
c.5089C>T (p.Gln1697Ter)
c.2396C>T
n.1025C>T
c.6046C>T (p.Gln2016Ter)
11g.121162203A=CA2004743167TBCEL-TECTA,TECTAc.5105A= (p.Gln1702=)
c.5090A= (p.Gln1697=)
c.2397A=
n.1026A=
c.6047A= (p.Gln2016=)
11g.121162203A>CCA383031799TBCEL-TECTA,TECTAc.5105A>C (p.Gln1702Pro)
c.5090A>C (p.Gln1697Pro)
c.2397A>C
n.1026A>C
c.6047A>C (p.Gln2016Pro)
 dbSNP
11g.121162203A>GCA383031796TBCEL-TECTA,TECTAc.5105A>G (p.Gln1702Arg)
c.5090A>G (p.Gln1697Arg)
c.2397A>G
n.1026A>G
c.6047A>G (p.Gln2016Arg)
11g.121162203A>TCA383031797TBCEL-TECTA,TECTAc.5105A>T (p.Gln1702Leu)
c.5090A>T (p.Gln1697Leu)
c.2397A>T
n.1026A>T
c.6047A>T (p.Gln2016Leu)
11g.121162204G>ACA477384242TBCEL-TECTA,TECTAc.5106G>A (p.Gln1702=)
c.5091G>A (p.Gln1697=)
c.2398G>A
n.1027G>A
c.6048G>A (p.Gln2016=)
11g.121162204G>CCA383031802TBCEL-TECTA,TECTAc.5106G>C (p.Gln1702His)
c.5091G>C (p.Gln1697His)
c.2398G>C
n.1027G>C
c.6048G>C (p.Gln2016His)
11g.121162204G>TCA383031803TBCEL-TECTA,TECTAc.5106G>T (p.Gln1702His)
c.5091G>T (p.Gln1697His)
c.2398G>T
n.1027G>T
c.6048G>T (p.Gln2016His)
11g.121162205C>ACA229847675TBCEL-TECTA,TECTAc.5107C>A (p.Pro1703Thr)
c.5092C>A (p.Pro1698Thr)
c.2399C>A
n.1028C>A
c.6049C>A (p.Pro2017Thr)
 dbSNP gnomAD v3 gnomAD v4
11g.121162205C=CA2004743176TBCEL-TECTA,TECTAc.5107C= (p.Pro1703=)
c.5092C= (p.Pro1698=)
c.2399C=
n.1028C=
c.6049C= (p.Pro2017=)
11g.121162205C>GCA383031815TBCEL-TECTA,TECTAc.5107C>G (p.Pro1703Ala)
c.5092C>G (p.Pro1698Ala)
c.2399C>G
n.1028C>G
c.6049C>G (p.Pro2017Ala)
11g.121162205C>TCA383031808TBCEL-TECTA,TECTAc.5107C>T (p.Pro1703Ser)
c.5092C>T (p.Pro1698Ser)
c.2399C>T
n.1028C>T
c.6049C>T (p.Pro2017Ser)
11g.121162206C>ACA383031817TBCEL-TECTA,TECTAc.5108C>A (p.Pro1703His)
c.5093C>A (p.Pro1698His)
c.2400C>A
n.1029C>A
c.6050C>A (p.Pro2017His)
11g.121162206C=CA2004743180TBCEL-TECTA,TECTAc.5108C= (p.Pro1703=)
c.5093C= (p.Pro1698=)
c.2400C=
n.1029C=
c.6050C= (p.Pro2017=)
11g.121162206C>GCA383031818TBCEL-TECTA,TECTAc.5108C>G (p.Pro1703Arg)
c.5093C>G (p.Pro1698Arg)
c.2400C>G
n.1029C>G
c.6050C>G (p.Pro2017Arg)
11g.121162206C>TCA6327651TBCEL-TECTA,TECTAc.5108C>T (p.Pro1703Leu)
c.5093C>T (p.Pro1698Leu)
c.2400C>T
n.1029C>T
c.6050C>T (p.Pro2017Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121162207C>ACA477384252TBCEL-TECTA,TECTAc.5109C>A (p.Pro1703=)
c.5094C>A (p.Pro1698=)
c.2401C>A
n.1030C>A
c.6051C>A (p.Pro2017=)
11g.121162207C=CA2004743183TBCEL-TECTA,TECTAc.5109C= (p.Pro1703=)
c.5094C= (p.Pro1698=)
c.2401C=
n.1030C=
c.6051C= (p.Pro2017=)
11g.121162207C>GCA477384253TBCEL-TECTA,TECTAc.5109C>G (p.Pro1703=)
c.5094C>G (p.Pro1698=)
c.2401C>G
n.1030C>G
c.6051C>G (p.Pro2017=)
11g.121162207C>TCA477384255TBCEL-TECTA,TECTAc.5109C>T (p.Pro1703=)
c.5094C>T (p.Pro1698=)
c.2401C>T
n.1030C>T
c.6051C>T (p.Pro2017=)
 dbSNP
11g.121162208T>ACA383031820TBCEL-TECTA,TECTAc.5110T>A (p.Cys1704Ser)
c.5095T>A (p.Cys1699Ser)
c.2402T>A
n.1031T>A
c.6052T>A (p.Cys2018Ser)
11g.121162208T>CCA383031821TBCEL-TECTA,TECTAc.5110T>C (p.Cys1704Arg)
c.5095T>C (p.Cys1699Arg)
c.2402T>C
n.1031T>C
c.6052T>C (p.Cys2018Arg)
11g.121162208T>GCA383031823TBCEL-TECTA,TECTAc.5110T>G (p.Cys1704Gly)
c.5095T>G (p.Cys1699Gly)
c.2402T>G
n.1031T>G
c.6052T>G (p.Cys2018Gly)
11g.121162209G>ACA383031829TBCEL-TECTA,TECTAc.5111G>A (p.Cys1704Tyr)
c.5096G>A (p.Cys1699Tyr)
c.2403G>A
n.1032G>A
c.6053G>A (p.Cys2018Tyr)
11g.121162209G>CCA6327652TBCEL-TECTA,TECTAc.5111G>C (p.Cys1704Ser)
c.5096G>C (p.Cys1699Ser)
c.2403G>C
n.1032G>C
c.6053G>C (p.Cys2018Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121162209G=CA2004743186TBCEL-TECTA,TECTAc.5111G= (p.Cys1704=)
c.5096G= (p.Cys1699=)
c.2403G=
n.1032G=
c.6053G= (p.Cys2018=)
11g.121162209G>TCA383031831TBCEL-TECTA,TECTAc.5111G>T (p.Cys1704Phe)
c.5096G>T (p.Cys1699Phe)
c.2403G>T
n.1032G>T
c.6053G>T (p.Cys2018Phe)
11g.121162210C>ACA383031834TBCEL-TECTA,TECTAc.5112C>A (p.Cys1704Ter)
c.5097C>A (p.Cys1699Ter)
c.2404C>A
n.1033C>A
c.6054C>A (p.Cys2018Ter)
11g.121162210C>GCA383031836TBCEL-TECTA,TECTAc.5112C>G (p.Cys1704Trp)
c.5097C>G (p.Cys1699Trp)
c.2404C>G
n.1033C>G
c.6054C>G (p.Cys2018Trp)
11g.121162210C>TCA477384259TBCEL-TECTA,TECTAc.5112C>T (p.Cys1704=)
c.5097C>T (p.Cys1699=)
c.2404C>T
n.1033C>T
c.6054C>T (p.Cys2018=)
11g.121162211T>ACA383031838TBCEL-TECTA,TECTAc.5113T>A (p.Tyr1705Asn)
c.5098T>A (p.Tyr1700Asn)
c.2405T>A
n.1034T>A
c.6055T>A (p.Tyr2019Asn)
11g.121162211T>CCA383031840TBCEL-TECTA,TECTAc.5113T>C (p.Tyr1705His)
c.5098T>C (p.Tyr1700His)
c.2405T>C
n.1034T>C
c.6055T>C (p.Tyr2019His)
 gnomAD v4
11g.121162211T>GCA383031841TBCEL-TECTA,TECTAc.5113T>G (p.Tyr1705Asp)
c.5098T>G (p.Tyr1700Asp)
c.2405T>G
n.1034T>G
c.6055T>G (p.Tyr2019Asp)
11g.121162212A=CA2004743219TBCEL-TECTA,TECTAc.5114A= (p.Tyr1705=)
c.5099A= (p.Tyr1700=)
c.2406A=
n.1035A=
c.6056A= (p.Tyr2019=)
11g.121162212A>CCA383031847TBCEL-TECTA,TECTAc.5114A>C (p.Tyr1705Ser)
c.5099A>C (p.Tyr1700Ser)
c.2406A>C
n.1035A>C
c.6056A>C (p.Tyr2019Ser)
11g.121162212A>GCA10638063TBCEL-TECTA,TECTAc.5114A>G (p.Tyr1705Cys)
c.5099A>G (p.Tyr1700Cys)
c.2406A>G
n.1035A>G
c.6056A>G (p.Tyr2019Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.121162212A>TCA383031845TBCEL-TECTA,TECTAc.5114A>T (p.Tyr1705Phe)
c.5099A>T (p.Tyr1700Phe)
c.2406A>T
n.1035A>T
c.6056A>T (p.Tyr2019Phe)
11g.121162213T>ACA383031852TBCEL-TECTA,TECTAc.5115T>A (p.Tyr1705Ter)
c.5100T>A (p.Tyr1700Ter)
c.2407T>A
n.1036T>A
c.6057T>A (p.Tyr2019Ter)
11g.121162213T>CCA477384270TBCEL-TECTA,TECTAc.5115T>C (p.Tyr1705=)
c.5100T>C (p.Tyr1700=)
c.2407T>C
n.1036T>C
c.6057T>C (p.Tyr2019=)
 dbSNP gnomAD v4
11g.121162213T>GCA383031854TBCEL-TECTA,TECTAc.5115T>G (p.Tyr1705Ter)
c.5100T>G (p.Tyr1700Ter)
c.2407T>G
n.1036T>G
c.6057T>G (p.Tyr2019Ter)
11g.121162213T=CA2004743234TBCEL-TECTA,TECTAc.5115T= (p.Tyr1705=)
c.5100T= (p.Tyr1700=)
c.2407T=
n.1036T=
c.6057T= (p.Tyr2019=)
11g.121162214G>ACA383031856TBCEL-TECTA,TECTAc.5116G>A (p.Gly1706Arg)
c.5101G>A (p.Gly1701Arg)
c.2408G>A
n.1037G>A
c.6058G>A (p.Gly2020Arg)
11g.121162214G>CCA383031859TBCEL-TECTA,TECTAc.5116G>C (p.Gly1706Arg)
c.5101G>C (p.Gly1701Arg)
c.2408G>C
n.1037G>C
c.6058G>C (p.Gly2020Arg)
11g.121162214G>TCA383031861TBCEL-TECTA,TECTAc.5116G>T (p.Gly1706Trp)
c.5101G>T (p.Gly1701Trp)
c.2408G>T
n.1037G>T
c.6058G>T (p.Gly2020Trp)
11g.121162215G>ACA383031862TBCEL-TECTA,TECTAc.5117G>A (p.Gly1706Glu)
c.5102G>A (p.Gly1701Glu)
c.2409G>A
n.1038G>A
c.6059G>A (p.Gly2020Glu)
11g.121162215G>CCA383031863TBCEL-TECTA,TECTAc.5117G>C (p.Gly1706Ala)
c.5102G>C (p.Gly1701Ala)
c.2409G>C
n.1038G>C
c.6059G>C (p.Gly2020Ala)
11g.121162215G>TCA383031865TBCEL-TECTA,TECTAc.5117G>T (p.Gly1706Val)
c.5102G>T (p.Gly1701Val)
c.2409G>T
n.1038G>T
c.6059G>T (p.Gly2020Val)
11g.121162216G>ACA6327654TBCEL-TECTA,TECTAc.5118G>A (p.Gly1706=)
c.5103G>A (p.Gly1701=)
c.2410G>A
n.1039G>A
c.6060G>A (p.Gly2020=)
 dbSNP ExAC
11g.121162216G>CCA6327653TBCEL-TECTA,TECTAc.5118G>C (p.Gly1706=)
c.5103G>C (p.Gly1701=)
c.2410G>C
n.1039G>C
c.6060G>C (p.Gly2020=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121162216G=CA2004743243TBCEL-TECTA,TECTAc.5118G= (p.Gly1706=)
c.5103G= (p.Gly1701=)
c.2410G=
n.1039G=
c.6060G= (p.Gly2020=)
11g.121162216G>TCA477384274TBCEL-TECTA,TECTAc.5118G>T (p.Gly1706=)
c.5103G>T (p.Gly1701=)
c.2410G>T
n.1039G>T
c.6060G>T (p.Gly2020=)
11g.121162217C>ACA383031872TBCEL-TECTA,TECTAc.5119C>A (p.Leu1707Ile)
c.5104C>A (p.Leu1702Ile)
c.2411C>A
n.1040C>A
c.6061C>A (p.Leu2021Ile)
11g.121162217C>GCA383031874TBCEL-TECTA,TECTAc.5119C>G (p.Leu1707Val)
c.5104C>G (p.Leu1702Val)
c.2411C>G
n.1040C>G
c.6061C>G (p.Leu2021Val)
11g.121162217C>TCA383031870TBCEL-TECTA,TECTAc.5119C>T (p.Leu1707Phe)
c.5104C>T (p.Leu1702Phe)
c.2411C>T
n.1040C>T
c.6061C>T (p.Leu2021Phe)
11g.121162218T>ACA383031876TBCEL-TECTA,TECTAc.5120T>A (p.Leu1707His)
c.5105T>A (p.Leu1702His)
c.2412T>A
n.1041T>A
c.6062T>A (p.Leu2021His)
11g.121162218T>CCA383031878TBCEL-TECTA,TECTAc.5120T>C (p.Leu1707Pro)
c.5105T>C (p.Leu1702Pro)
c.2412T>C
n.1041T>C
c.6062T>C (p.Leu2021Pro)
11g.121162218T>GCA383031879TBCEL-TECTA,TECTAc.5120T>G (p.Leu1707Arg)
c.5105T>G (p.Leu1702Arg)
c.2412T>G
n.1041T>G
c.6062T>G (p.Leu2021Arg)
11g.121162219T>ACA477383421TBCEL-TECTA,TECTAc.5121T>A (p.Leu1707=)
c.5106T>A (p.Leu1702=)
c.2413T>A
n.1042T>A
c.6063T>A (p.Leu2021=)
11g.121162219T>CCA477383422TBCEL-TECTA,TECTAc.5121T>C (p.Leu1707=)
c.5106T>C (p.Leu1702=)
c.2413T>C
n.1042T>C
c.6063T>C (p.Leu2021=)
11g.121162219T>GCA477383420TBCEL-TECTA,TECTAc.5121T>G (p.Leu1707=)
c.5106T>G (p.Leu1702=)
c.2413T>G
n.1042T>G
c.6063T>G (p.Leu2021=)
11g.121162220C>ACA383031885TBCEL-TECTA,TECTAc.5122C>A (p.Leu1708Ile)
c.5107C>A (p.Leu1703Ile)
c.2414C>A
n.1043C>A
c.6064C>A (p.Leu2022Ile)
11g.121162220C>GCA383031887TBCEL-TECTA,TECTAc.5122C>G (p.Leu1708Val)
c.5107C>G (p.Leu1703Val)
c.2414C>G
n.1043C>G
c.6064C>G (p.Leu2022Val)
11g.121162220C>TCA383031888TBCEL-TECTA,TECTAc.5122C>T (p.Leu1708Phe)
c.5107C>T (p.Leu1703Phe)
c.2414C>T
n.1043C>T
c.6064C>T (p.Leu2022Phe)
11g.121162221T>ACA383031891TBCEL-TECTA,TECTAc.5123T>A (p.Leu1708His)
c.5108T>A (p.Leu1703His)
c.2415T>A
n.1044T>A
c.6065T>A (p.Leu2022His)
 gnomAD v4
11g.121162221T>CCA383031895TBCEL-TECTA,TECTAc.5123T>C (p.Leu1708Pro)
c.5108T>C (p.Leu1703Pro)
c.2415T>C
n.1044T>C
c.6065T>C (p.Leu2022Pro)
11g.121162221T>GCA383031893TBCEL-TECTA,TECTAc.5123T>G (p.Leu1708Arg)
c.5108T>G (p.Leu1703Arg)
c.2415T>G
n.1044T>G
c.6065T>G (p.Leu2022Arg)
11g.121162222C>ACA477383423TBCEL-TECTA,TECTAc.5124C>A (p.Leu1708=)
c.5109C>A (p.Leu1703=)
c.2416C>A
n.1045C>A
c.6066C>A (p.Leu2022=)
11g.121162222C=CA2004743253TBCEL-TECTA,TECTAc.5124C= (p.Leu1708=)
c.5109C= (p.Leu1703=)
c.2416C=
n.1045C=
c.6066C= (p.Leu2022=)
11g.121162222C>GCA477383424TBCEL-TECTA,TECTAc.5124C>G (p.Leu1708=)
c.5109C>G (p.Leu1703=)
c.2416C>G
n.1045C>G
c.6066C>G (p.Leu2022=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.121162222C>TCA6327655TBCEL-TECTA,TECTAc.5124C>T (p.Leu1708=)
c.5109C>T (p.Leu1703=)
c.2416C>T
n.1045C>T
c.6066C>T (p.Leu2022=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121162223G>ACA6327656TBCEL-TECTA,TECTAc.5125G>A (p.Asp1709Asn)
c.5110G>A (p.Asp1704Asn)
c.2417G>A
n.1046G>A
c.6067G>A (p.Asp2023Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121162223G>CCA383031904TBCEL-TECTA,TECTAc.5125G>C (p.Asp1709His)
c.5110G>C (p.Asp1704His)
c.2417G>C
n.1046G>C
c.6067G>C (p.Asp2023His)
11g.121162223G=CA2004743257TBCEL-TECTA,TECTAc.5125G= (p.Asp1709=)
c.5110G= (p.Asp1704=)
c.2417G=
n.1046G=
c.6067G= (p.Asp2023=)
11g.121162223G>TCA229847717TBCEL-TECTA,TECTAc.5125G>T (p.Asp1709Tyr)
c.5110G>T (p.Asp1704Tyr)
c.2417G>T
n.1046G>T
c.6067G>T (p.Asp2023Tyr)
 dbSNP gnomAD v3 gnomAD v4
11g.121162224A>CCA383031907TBCEL-TECTA,TECTAc.5126A>C (p.Asp1709Ala)
c.5111A>C (p.Asp1704Ala)
c.2418A>C
n.1047A>C
c.6068A>C (p.Asp2023Ala)
11g.121162224A>GCA383031910TBCEL-TECTA,TECTAc.5126A>G (p.Asp1709Gly)
c.5111A>G (p.Asp1704Gly)
c.2418A>G
n.1047A>G
c.6068A>G (p.Asp2023Gly)
11g.121162224A>TCA383031908TBCEL-TECTA,TECTAc.5126A>T (p.Asp1709Val)
c.5111A>T (p.Asp1704Val)
c.2418A>T
n.1047A>T
c.6068A>T (p.Asp2023Val)
11g.121162225T>ACA383031911TBCEL-TECTA,TECTAc.5127T>A (p.Asp1709Glu)
c.5112T>A (p.Asp1704Glu)
c.2419T>A
n.1048T>A
c.6069T>A (p.Asp2023Glu)
11g.121162225T>CCA477383425TBCEL-TECTA,TECTAc.5127T>C (p.Asp1709=)
c.5112T>C (p.Asp1704=)
c.2419T>C
n.1048T>C
c.6069T>C (p.Asp2023=)
11g.121162225T>GCA383031912TBCEL-TECTA,TECTAc.5127T>G (p.Asp1709Glu)
c.5112T>G (p.Asp1704Glu)
c.2419T>G
n.1048T>G
c.6069T>G (p.Asp2023Glu)
11g.121162225_121162226delCA2502625410TBCEL-TECTA,TECTAc.5127_5128del (p.Leu1711ProfsTer?)
c.5112_5113del (p.Leu1706ProfsTer?)
c.2419_2420del
n.1048_1049del
c.6069_6070del (p.Leu2025ProfsTer?)
11g.121162226C>ACA383031913TBCEL-TECTA,TECTAc.5128C>A (p.Pro1710Thr)
c.5113C>A (p.Pro1705Thr)
c.2420C>A
n.1049C>A
c.6070C>A (p.Pro2024Thr)
11g.121162226C>GCA383031915TBCEL-TECTA,TECTAc.5128C>G (p.Pro1710Ala)
c.5113C>G (p.Pro1705Ala)
c.2420C>G
n.1049C>G
c.6070C>G (p.Pro2024Ala)
11g.121162226C>TCA383031917TBCEL-TECTA,TECTAc.5128C>T (p.Pro1710Ser)
c.5113C>T (p.Pro1705Ser)
c.2420C>T
n.1049C>T
c.6070C>T (p.Pro2024Ser)
11g.121162227C>ACA383031919TBCEL-TECTA,TECTAc.5129C>A (p.Pro1710His)
c.5114C>A (p.Pro1705His)
c.2421C>A
n.1050C>A
c.6071C>A (p.Pro2024His)
 dbSNP gnomAD v3 gnomAD v4
11g.121162227C=CA2004743258TBCEL-TECTA,TECTAc.5129C= (p.Pro1710=)
c.5114C= (p.Pro1705=)
c.2421C=
n.1050C=
c.6071C= (p.Pro2024=)
11g.121162227C>GCA383031920TBCEL-TECTA,TECTAc.5129C>G (p.Pro1710Arg)
c.5114C>G (p.Pro1705Arg)
c.2421C>G
n.1050C>G
c.6071C>G (p.Pro2024Arg)
 dbSNP
11g.121162227C>TCA383031923TBCEL-TECTA,TECTAc.5129C>T (p.Pro1710Leu)
c.5114C>T (p.Pro1705Leu)
c.2421C>T
n.1050C>T
c.6071C>T (p.Pro2024Leu)
 gnomAD v4 COSMIC
11g.121162228C>ACA477383426TBCEL-TECTA,TECTAc.5130C>A (p.Pro1710=)
c.5115C>A (p.Pro1705=)
c.2422C>A
n.1051C>A
c.6072C>A (p.Pro2024=)
11g.121162228C=CA2004743259TBCEL-TECTA,TECTAc.5130C= (p.Pro1710=)
c.5115C= (p.Pro1705=)
c.2422C=
n.1051C=
c.6072C= (p.Pro2024=)
11g.121162228C>GCA477383427TBCEL-TECTA,TECTAc.5130C>G (p.Pro1710=)
c.5115C>G (p.Pro1705=)
c.2422C>G
n.1051C>G
c.6072C>G (p.Pro2024=)
 dbSNP gnomAD v4
11g.121162228C>TCA477383428TBCEL-TECTA,TECTAc.5130C>T (p.Pro1710=)
c.5115C>T (p.Pro1705=)
c.2422C>T
n.1051C>T
c.6072C>T (p.Pro2024=)
 gnomAD v4
11g.121162229C>ACA383031928TBCEL-TECTA,TECTAc.5131C>A (p.Leu1711Ile)
c.5116C>A (p.Leu1706Ile)
c.2423C>A
n.1052C>A
c.6073C>A (p.Leu2025Ile)
11g.121162229C=CA2004743260TBCEL-TECTA,TECTAc.5131C= (p.Leu1711=)
c.5116C= (p.Leu1706=)
c.2423C=
n.1052C=
c.6073C= (p.Leu2025=)
11g.121162229C>GCA383031930TBCEL-TECTA,TECTAc.5131C>G (p.Leu1711Val)
c.5116C>G (p.Leu1706Val)
c.2423C>G
n.1052C>G
c.6073C>G (p.Leu2025Val)
11g.121162229C>TCA6327657TBCEL-TECTA,TECTAc.5131C>T (p.Leu1711Phe)
c.5116C>T (p.Leu1706Phe)
c.2423C>T
n.1052C>T
c.6073C>T (p.Leu2025Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121162230T>ACA383031936TBCEL-TECTA,TECTAc.5132T>A (p.Leu1711His)
c.5117T>A (p.Leu1706His)
c.2424T>A
n.1053T>A
c.6074T>A (p.Leu2025His)
11g.121162230T>CCA383031934TBCEL-TECTA,TECTAc.5132T>C (p.Leu1711Pro)
c.5117T>C (p.Leu1706Pro)
c.2424T>C
n.1053T>C
c.6074T>C (p.Leu2025Pro)
11g.121162230T>GCA383031933TBCEL-TECTA,TECTAc.5132T>G (p.Leu1711Arg)
c.5117T>G (p.Leu1706Arg)
c.2424T>G
n.1053T>G
c.6074T>G (p.Leu2025Arg)
11g.121162231C>ACA477383429TBCEL-TECTA,TECTAc.5133C>A (p.Leu1711=)
c.5118C>A (p.Leu1706=)
c.2425C>A
n.1054C>A
c.6075C>A (p.Leu2025=)
 dbSNP gnomAD v2 gnomAD v4
11g.121162231C=CA2004743261TBCEL-TECTA,TECTAc.5133C= (p.Leu1711=)
c.5118C= (p.Leu1706=)
c.2425C=
n.1054C=
c.6075C= (p.Leu2025=)
11g.121162231C>GCA477383430TBCEL-TECTA,TECTAc.5133C>G (p.Leu1711=)
c.5118C>G (p.Leu1706=)
c.2425C>G
n.1054C>G
c.6075C>G (p.Leu2025=)
11g.121162231C>TCA477383431TBCEL-TECTA,TECTAc.5133C>T (p.Leu1711=)
c.5118C>T (p.Leu1706=)
c.2425C>T
n.1054C>T
c.6075C>T (p.Leu2025=)

Number of alleles fetched