Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.10048351_10048377delCA2488331522KLF11c.1014_1040del (p.Val339_Ala347del)
c.963_989del (p.Val322_Ala330del)
 dbSNP
2g.10048376G>ACA345803695KLF11c.1039G>A (p.Ala347Thr)
c.988G>A (p.Ala330Thr)
 ClinVar
2g.10048376G>CCA345803696KLF11c.1039G>C (p.Ala347Pro)
c.988G>C (p.Ala330Pro)
2g.10048376G=CA2488331540KLF11c.1039G= (p.Ala347=)
c.988G= (p.Ala330=)
2g.10048376G>TCA118315KLF11c.1039G>T (p.Ala347Ser)
c.988G>T (p.Ala330Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.10048377C>ACA345803697KLF11c.1040C>A (p.Ala347Asp)
c.989C>A (p.Ala330Asp)
2g.10048377C=CA2488331541KLF11c.1040C= (p.Ala347=)
c.989C= (p.Ala330=)
2g.10048377C>GCA345803698KLF11c.1040C>G (p.Ala347Gly)
c.989C>G (p.Ala330Gly)
 dbSNP
2g.10048377C>TCA1525666KLF11c.1040C>T (p.Ala347Val)
c.989C>T (p.Ala330Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.10048378C>ACA425085157KLF11c.1041C>A (p.Ala347=)
c.990C>A (p.Ala330=)
2g.10048378C=CA2488331542KLF11c.1041C= (p.Ala347=)
c.990C= (p.Ala330=)
2g.10048378C>GCA425085158KLF11c.1041C>G (p.Ala347=)
c.990C>G (p.Ala330=)
 gnomAD v4
2g.10048378C>TCA1525667KLF11c.1041C>T (p.Ala347=)
c.990C>T (p.Ala330=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.10048379C>ACA345803700KLF11c.1042C>A (p.Leu348Ile)
c.991C>A (p.Leu331Ile)
2g.10048379C>GCA345803699KLF11c.1042C>G (p.Leu348Val)
c.991C>G (p.Leu331Val)
2g.10048379C>TCA345803701KLF11c.1042C>T (p.Leu348Phe)
c.991C>T (p.Leu331Phe)
 gnomAD v4
2g.10048380T>ACA345803702KLF11c.1043T>A (p.Leu348His)
c.992T>A (p.Leu331His)
2g.10048380T>CCA345803703KLF11c.1043T>C (p.Leu348Pro)
c.992T>C (p.Leu331Pro)
 dbSNP
2g.10048380T>GCA345803704KLF11c.1043T>G (p.Leu348Arg)
c.992T>G (p.Leu331Arg)
 gnomAD v4
2g.10048380T=CA2488331543KLF11c.1043T= (p.Leu348=)
c.992T= (p.Leu331=)
2g.10048381C>ACA425085165KLF11c.1044C>A (p.Leu348=)
c.993C>A (p.Leu331=)
2g.10048381C=CA2488331544KLF11c.1044C= (p.Leu348=)
c.993C= (p.Leu331=)
2g.10048381C>GCA1525668KLF11c.1044C>G (p.Leu348=)
c.993C>G (p.Leu331=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.10048381C>TCA425085167KLF11c.1044C>T (p.Leu348=)
c.993C>T (p.Leu331=)
2g.10048385_10048397delCA2657823121KLF11c.1048_1060del (p.Pro350ValfsTer?)
c.997_1009del (p.Pro333ValfsTer?)
 gnomAD v4
2g.10048382C>ACA345803705KLF11c.1045C>A (p.Pro349Thr)
c.994C>A (p.Pro332Thr)
2g.10048382C>GCA345803706KLF11c.1045C>G (p.Pro349Ala)
c.994C>G (p.Pro332Ala)
2g.10048382C>TCA345803707KLF11c.1045C>T (p.Pro349Ser)
c.994C>T (p.Pro332Ser)
2g.10048383C>ACA345803708KLF11c.1046C>A (p.Pro349His)
c.995C>A (p.Pro332His)
2g.10048383C=CA2488331545KLF11c.1046C= (p.Pro349=)
c.995C= (p.Pro332=)
2g.10048383C>GCA345803709KLF11c.1046C>G (p.Pro349Arg)
c.995C>G (p.Pro332Arg)
2g.10048383C>TCA10611738KLF11c.1046C>T (p.Pro349Leu)
c.995C>T (p.Pro332Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.10048384T>ACA425085173KLF11c.1047T>A (p.Pro349=)
c.996T>A (p.Pro332=)
2g.10048384T>CCA425085174KLF11c.1047T>C (p.Pro349=)
c.996T>C (p.Pro332=)
2g.10048384T>GCA425085175KLF11c.1047T>G (p.Pro349=)
c.996T>G (p.Pro332=)
2g.10048385C>ACA345803710KLF11c.1048C>A (p.Pro350Thr)
c.997C>A (p.Pro333Thr)
2g.10048385C=CA2488331546KLF11c.1048C= (p.Pro350=)
c.997C= (p.Pro333=)
2g.10048385C>GCA345803711KLF11c.1048C>G (p.Pro350Ala)
c.997C>G (p.Pro333Ala)
2g.10048385C>TCA1525669KLF11c.1048C>T (p.Pro350Ser)
c.997C>T (p.Pro333Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.10048385_10048386dupCA2576674100KLF11c.1048_1049dup (p.Pro351ArgfsTer?)
c.997_998dup (p.Pro334ArgfsTer?)
2g.10048386C>ACA345803713KLF11c.1049C>A (p.Pro350Gln)
c.998C>A (p.Pro333Gln)
2g.10048386C=CA2488331547KLF11c.1049C= (p.Pro350=)
c.998C= (p.Pro333=)
2g.10048386C>GCA345803712KLF11c.1049C>G (p.Pro350Arg)
c.998C>G (p.Pro333Arg)
2g.10048386C>TCA1525670KLF11c.1049C>T (p.Pro350Leu)
c.998C>T (p.Pro333Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.10048387delCA2576674101KLF11c.1050del (p.Pro351LeufsTer?)
c.999del (p.Pro334LeufsTer?)
2g.10048387G>ACA1525672KLF11c.1050G>A (p.Pro350=)
c.999G>A (p.Pro333=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.10048387G>CCA424802511KLF11c.1050G>C (p.Pro350=)
c.999G>C (p.Pro333=)
 gnomAD v4
2g.10048387G=CA2488331548KLF11c.1050G= (p.Pro350=)
c.999G= (p.Pro333=)
2g.10048387G>TCA1525671KLF11c.1050G>T (p.Pro350=)
c.999G>T (p.Pro333=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.10048388C>ACA345803714KLF11c.1051C>A (p.Pro351Thr)
c.1000C>A (p.Pro334Thr)

Number of alleles fetched