| 4 | g.122742759_122742766del | CA2499217070 | BBS12 | c.867_874del (p.Val290AlafsTer19)
| ClinVar dbSNP |
| 4 | g.122742766C>A | CA358223891 | BBS12 | c.874C>A (p.Leu292Met)
| |
| 4 | g.122742766C>G | CA358223892 | BBS12 | c.874C>G (p.Leu292Val)
| |
| 4 | g.122742766C>T | CA441120728 | BBS12 | c.874C>T (p.Leu292=)
| ClinVar |
| 4 | g.122742767T>A | CA358223893 | BBS12 | c.875T>A (p.Leu292Gln)
| |
| 4 | g.122742767T>C | CA358223894 | BBS12 | c.875T>C (p.Leu292Pro)
| |
| 4 | g.122742767T>G | CA358223895 | BBS12 | c.875T>G (p.Leu292Arg)
| |
| 4 | g.122742768G>A | CA441120731 | BBS12 | c.876G>A (p.Leu292=)
| dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.122742768G>C | CA441120729 | BBS12 | c.876G>C (p.Leu292=)
| |
| 4 | g.122742768G= | CA1490417777 | BBS12 | c.876G= (p.Leu292=)
| |
| 4 | g.122742768G>T | CA441120730 | BBS12 | c.876G>T (p.Leu292=)
| |
| 4 | g.122742769C>A | CA358223896 | BBS12 | c.877C>A (p.Gln293Lys)
| |
| 4 | g.122742769C>G | CA358223897 | BBS12 | c.877C>G (p.Gln293Glu)
| |
| 4 | g.122742769C>T | CA358223898 | BBS12 | c.877C>T (p.Gln293Ter)
| |
| 4 | g.122742770A>C | CA358223900 | BBS12 | c.878A>C (p.Gln293Pro)
| |
| 4 | g.122742770A>G | CA358223901 | BBS12 | c.878A>G (p.Gln293Arg)
| |
| 4 | g.122742770A>T | CA358223899 | BBS12 | c.878A>T (p.Gln293Leu)
| |
| 4 | g.122742771A= | CA1490417778 | BBS12 | c.879A= (p.Gln293=)
| |
| 4 | g.122742771A>C | CA358223902 | BBS12 | c.879A>C (p.Gln293His)
| gnomAD v4 |
| 4 | g.122742771A>G | CA105249190 | BBS12 | c.879A>G (p.Gln293=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.122742771A>T | CA358223903 | BBS12 | c.879A>T (p.Gln293His)
| gnomAD v4 |
| 4 | g.122742772T>A | CA358223904 | BBS12 | c.880T>A (p.Tyr294Asn)
| |
| 4 | g.122742772T>C | CA358223905 | BBS12 | c.880T>C (p.Tyr294His)
| |
| 4 | g.122742772T>G | CA358223906 | BBS12 | c.880T>G (p.Tyr294Asp)
| ClinVar |
| 4 | g.122742773A>C | CA358223909 | BBS12 | c.881A>C (p.Tyr294Ser)
| |
| 4 | g.122742773A>G | CA358223908 | BBS12 | c.881A>G (p.Tyr294Cys)
| |
| 4 | g.122742773A>T | CA358223907 | BBS12 | c.881A>T (p.Tyr294Phe)
| |
| 4 | g.122742774T>A | CA358223910 | BBS12 | c.882T>A (p.Tyr294Ter)
| |
| 4 | g.122742774T>C | CA3069343 | BBS12 | c.882T>C (p.Tyr294=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.122742774T>G | CA358223911 | BBS12 | c.882T>G (p.Tyr294Ter)
| |
| 4 | g.122742774T= | CA1490417779 | BBS12 | c.882T= (p.Tyr294=)
| |
| 4 | g.122742775C>A | CA358223912 | BBS12 | c.883C>A (p.Gln295Lys)
| |
| 4 | g.122742775C>G | CA358223913 | BBS12 | c.883C>G (p.Gln295Glu)
| |
| 4 | g.122742775C>T | CA358223914 | BBS12 | c.883C>T (p.Gln295Ter)
| |
| 4 | g.122742776A>C | CA358223917 | BBS12 | c.884A>C (p.Gln295Pro)
| |
| 4 | g.122742776A>G | CA358223915 | BBS12 | c.884A>G (p.Gln295Arg)
| |
| 4 | g.122742776A>T | CA358223916 | BBS12 | c.884A>T (p.Gln295Leu)
| |
| 4 | g.122742777G>A | CA441120810 | BBS12 | c.885G>A (p.Gln295=)
| |
| 4 | g.122742777G>C | CA358223918 | BBS12 | c.885G>C (p.Gln295His)
| |
| 4 | g.122742777G>T | CA358223919 | BBS12 | c.885G>T (p.Gln295His)
| |
| 4 | g.122742778A>C | CA358223920 | BBS12 | c.886A>C (p.Asn296His)
| |
| 4 | g.122742778A>G | CA358223921 | BBS12 | c.886A>G (p.Asn296Asp)
| |
| 4 | g.122742778A>T | CA358223922 | BBS12 | c.886A>T (p.Asn296Tyr)
| |
| 4 | g.122742779A>C | CA358223923 | BBS12 | c.887A>C (p.Asn296Thr)
| |
| 4 | g.122742779A>G | CA358223924 | BBS12 | c.887A>G (p.Asn296Ser)
| |
| 4 | g.122742779A>T | CA358223925 | BBS12 | c.887A>T (p.Asn296Ile)
| |
| 4 | g.122742780T>A | CA358223926 | BBS12 | c.888T>A (p.Asn296Lys)
| |
| 4 | g.122742780T>C | CA441120812 | BBS12 | c.888T>C (p.Asn296=)
| |
| 4 | g.122742780T>G | CA358223927 | BBS12 | c.888T>G (p.Asn296Lys)
| |
| 4 | g.122742782_122742785del | CA2499217071 | BBS12 | c.890_893del (p.Ala297ValfsTer?)
| ClinVar dbSNP |
| 4 | g.122742781G>A | CA358223928 | BBS12 | c.889G>A (p.Ala297Thr)
| |
| 4 | g.122742781G>C | CA358223929 | BBS12 | c.889G>C (p.Ala297Pro)
| dbSNP |
| 4 | g.122742781G= | CA1490417780 | BBS12 | c.889G= (p.Ala297=)
| |
| 4 | g.122742781G>T | CA358223930 | BBS12 | c.889G>T (p.Ala297Ser)
| |
| 4 | g.122742782C>A | CA358223931 | BBS12 | c.890C>A (p.Ala297Asp)
| |
| 4 | g.122742782C>G | CA358223933 | BBS12 | c.890C>G (p.Ala297Gly)
| |
| 4 | g.122742782C>T | CA358223932 | BBS12 | c.890C>T (p.Ala297Val)
| |
| 4 | g.122742783T>A | CA441120813 | BBS12 | c.891T>A (p.Ala297=)
| |
| 4 | g.122742783T>C | CA441120814 | BBS12 | c.891T>C (p.Ala297=)
| ClinVar dbSNP gnomAD v4 |
| 4 | g.122742783T>G | CA441120815 | BBS12 | c.891T>G (p.Ala297=)
| |
| 4 | g.122742784del | CA2671993385 | BBS12 | c.892del (p.Cys298ValfsTer?)
| gnomAD v4 |
| 4 | g.122742784T>A | CA358223934 | BBS12 | c.892T>A (p.Cys298Ser)
| |
| 4 | g.122742784T>C | CA358223935 | BBS12 | c.892T>C (p.Cys298Arg)
| |
| 4 | g.122742784T>G | CA358223936 | BBS12 | c.892T>G (p.Cys298Gly)
| |
| 4 | g.122742785G>A | CA358223937 | BBS12 | c.893G>A (p.Cys298Tyr)
| |
| 4 | g.122742785G>C | CA358223938 | BBS12 | c.893G>C (p.Cys298Ser)
| |
| 4 | g.122742785G>T | CA358223939 | BBS12 | c.893G>T (p.Cys298Phe)
| |
| 4 | g.122742786T>A | CA358223941 | BBS12 | c.894T>A (p.Cys298Ter)
| |
| 4 | g.122742786T>C | CA441120816 | BBS12 | c.894T>C (p.Cys298=)
| gnomAD v4 |
| 4 | g.122742786T>G | CA358223940 | BBS12 | c.894T>G (p.Cys298Trp)
| |
| 4 | g.122742787G>A | CA3069344 | BBS12 | c.895G>A (p.Val299Met)
| dbSNP ExAC gnomAD v4 |
| 4 | g.122742787G>C | CA358223942 | BBS12 | c.895G>C (p.Val299Leu)
| |
| 4 | g.122742787G= | CA1490417781 | BBS12 | c.895G= (p.Val299=)
| |
| 4 | g.122742787G>T | CA358223943 | BBS12 | c.895G>T (p.Val299Leu)
| |
| 4 | g.122742788T>A | CA358223944 | BBS12 | c.896T>A (p.Val299Glu)
| ClinVar dbSNP gnomAD v4 |
| 4 | g.122742788T>C | CA358223945 | BBS12 | c.896T>C (p.Val299Ala)
| |
| 4 | g.122742788T>G | CA358223946 | BBS12 | c.896T>G (p.Val299Gly)
| |
| 4 | g.122742788T= | CA1490417782 | BBS12 | c.896T= (p.Val299=)
| |
| 4 | g.122742789G>A | CA441120817 | BBS12 | c.897G>A (p.Val299=)
| gnomAD v4 |
| 4 | g.122742789G>C | CA441120819 | BBS12 | c.897G>C (p.Val299=)
| |
| 4 | g.122742789G>T | CA441120818 | BBS12 | c.897G>T (p.Val299=)
| |
| 4 | g.122742790C>A | CA358223947 | BBS12 | c.898C>A (p.Gln300Lys)
| |
| 4 | g.122742790C= | CA1490417783 | BBS12 | c.898C= (p.Gln300=)
| |
| 4 | g.122742790C>G | CA358223948 | BBS12 | c.898C>G (p.Gln300Glu)
| |
| 4 | g.122742790C>T | CA3069345 | BBS12 | c.898C>T (p.Gln300Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.122742791A>C | CA358223949 | BBS12 | c.899A>C (p.Gln300Pro)
| gnomAD v4 |
| 4 | g.122742791A>G | CA358223950 | BBS12 | c.899A>G (p.Gln300Arg)
| |
| 4 | g.122742791A>T | CA358223951 | BBS12 | c.899A>T (p.Gln300Leu)
| |
| 4 | g.122742792A= | CA1490417784 | BBS12 | c.900A= (p.Gln300=)
| |
| 4 | g.122742792A>C | CA358223952 | BBS12 | c.900A>C (p.Gln300His)
| |
| 4 | g.122742792A>G | CA441120820 | BBS12 | c.900A>G (p.Gln300=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.122742792A>T | CA358223953 | BBS12 | c.900A>T (p.Gln300His)
| |
| 4 | g.122742793C>A | CA358223954 | BBS12 | c.901C>A (p.Gln301Lys)
| dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.122742793C= | CA1490417785 | BBS12 | c.901C= (p.Gln301=)
| |
| 4 | g.122742793C>G | CA358223955 | BBS12 | c.901C>G (p.Gln301Glu)
| |
| 4 | g.122742793C>T | CA358223956 | BBS12 | c.901C>T (p.Gln301Ter)
| |
| 4 | g.122742794A>C | CA358223957 | BBS12 | c.902A>C (p.Gln301Pro)
| |
| 4 | g.122742794A>G | CA358223958 | BBS12 | c.902A>G (p.Gln301Arg)
| |
| 4 | g.122742794A>T | CA358223959 | BBS12 | c.902A>T (p.Gln301Leu)
| |
| 4 | g.122742795A>C | CA358223960 | BBS12 | c.903A>C (p.Gln301His)
| |
| 4 | g.122742795A>G | CA441120821 | BBS12 | c.903A>G (p.Gln301=)
| gnomAD v4 |
| 4 | g.122742795A>T | CA358223961 | BBS12 | c.903A>T (p.Gln301His)
| |
| 4 | g.122742796G>A | CA358223962 | BBS12 | c.904G>A (p.Gly302Ser)
| |
| 4 | g.122742796G>C | CA358223964 | BBS12 | c.904G>C (p.Gly302Arg)
| |
| 4 | g.122742796G>T | CA358223963 | BBS12 | c.904G>T (p.Gly302Cys)
| |
| 4 | g.122742796_122742798dup | CA2671993386 | BBS12 | c.904_906dup (p.Gly302_Asn303insGly)
| gnomAD v4 |
| 4 | g.122742797G>A | CA358223965 | BBS12 | c.905G>A (p.Gly302Asp)
| gnomAD v4 |
| 4 | g.122742797G>C | CA358223966 | BBS12 | c.905G>C (p.Gly302Ala)
| |
| 4 | g.122742797G>T | CA358223967 | BBS12 | c.905G>T (p.Gly302Val)
| |
| 4 | g.122742798C>A | CA3069346 | BBS12 | c.906C>A (p.Gly302=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.122742798C= | CA1490417786 | BBS12 | c.906C= (p.Gly302=)
| |
| 4 | g.122742798C>G | CA441120822 | BBS12 | c.906C>G (p.Gly302=)
| |
| 4 | g.122742798C>T | CA3069347 | BBS12 | c.906C>T (p.Gly302=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.122742799A>C | CA358223968 | BBS12 | c.907A>C (p.Asn303His)
| |
| 4 | g.122742799A>G | CA358223969 | BBS12 | c.907A>G (p.Asn303Asp)
| |
| 4 | g.122742799A>T | CA358223970 | BBS12 | c.907A>T (p.Asn303Tyr)
| |
| 4 | g.122742799_122742802dup | CA2671993387 | BBS12 | c.907_910dup (p.Cys304Ter)
| gnomAD v4 |
| 4 | g.122742800A= | CA1490417787 | BBS12 | c.908A= (p.Asn303=)
| |
| 4 | g.122742800A>C | CA358223971 | BBS12 | c.908A>C (p.Asn303Thr)
| |
| 4 | g.122742800A>G | CA358223972 | BBS12 | c.908A>G (p.Asn303Ser)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.122742800A>T | CA358223973 | BBS12 | c.908A>T (p.Asn303Ile)
| |
| 4 | g.122742801C>A | CA358223974 | BBS12 | c.909C>A (p.Asn303Lys)
| |
| 4 | g.122742801C>G | CA358223975 | BBS12 | c.909C>G (p.Asn303Lys)
| |
| 4 | g.122742801C>T | CA441120823 | BBS12 | c.909C>T (p.Asn303=)
| |
| 4 | g.122742802T>A | CA358223978 | BBS12 | c.910T>A (p.Cys304Ser)
| |
| 4 | g.122742802T>C | CA358223977 | BBS12 | c.910T>C (p.Cys304Arg)
| dbSNP gnomAD v2 |
| 4 | g.122742802T>G | CA358223976 | BBS12 | c.910T>G (p.Cys304Gly)
| |
| 4 | g.122742802T= | CA1490417788 | BBS12 | c.910T= (p.Cys304=)
| |
| 4 | g.122742803_122742804del | CA2573138026 | BBS12 | c.911_912del (p.Cys304TyrfsTer7)
| ClinVar dbSNP |
| 4 | g.122742803G>A | CA3069348 | BBS12 | c.911G>A (p.Cys304Tyr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.122742803G>C | CA358223979 | BBS12 | c.911G>C (p.Cys304Ser)
| ClinVar |
| 4 | g.122742803G= | CA1490417789 | BBS12 | c.911G= (p.Cys304=)
| |
| 4 | g.122742803G>T | CA358223980 | BBS12 | c.911G>T (p.Cys304Phe)
| |
| 4 | g.122742804T>A | CA358223981 | BBS12 | c.912T>A (p.Cys304Ter)
| |
| 4 | g.122742804T>C | CA441120824 | BBS12 | c.912T>C (p.Cys304=)
| |
| 4 | g.122742804T>G | CA358223982 | BBS12 | c.912T>G (p.Cys304Trp)
| |
| 4 | g.122742805A>C | CA358223983 | BBS12 | c.913A>C (p.Thr305Pro)
| |
| 4 | g.122742805A>G | CA358223984 | BBS12 | c.913A>G (p.Thr305Ala)
| |
| 4 | g.122742805A>T | CA358223985 | BBS12 | c.913A>T (p.Thr305Ser)
| |
| 4 | g.122742806C>A | CA105249191 | BBS12 | c.914C>A (p.Thr305Lys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.122742806C= | CA1490417790 | BBS12 | c.914C= (p.Thr305=)
| |
| 4 | g.122742806C>G | CA358223986 | BBS12 | c.914C>G (p.Thr305Arg)
| |
| 4 | g.122742806C>T | CA358223987 | BBS12 | c.914C>T (p.Thr305Ile)
| |
| 4 | g.122742807A>C | CA441120825 | BBS12 | c.915A>C (p.Thr305=)
| |
| 4 | g.122742807A>G | CA441120826 | BBS12 | c.915A>G (p.Thr305=)
| |
| 4 | g.122742807A>T | CA441120827 | BBS12 | c.915A>T (p.Thr305=)
| |
| 4 | g.122742808A>C | CA358223988 | BBS12 | c.916A>C (p.Lys306Gln)
| COSMIC |
| 4 | g.122742808A>G | CA358223989 | BBS12 | c.916A>G (p.Lys306Glu)
| |
| 4 | g.122742808A>T | CA358223990 | BBS12 | c.916A>T (p.Lys306Ter)
| |
| 4 | g.122742809A>C | CA358223993 | BBS12 | c.917A>C (p.Lys306Thr)
| |
| 4 | g.122742809A>G | CA358223992 | BBS12 | c.917A>G (p.Lys306Arg)
| |
| 4 | g.122742809A>T | CA358223991 | BBS12 | c.917A>T (p.Lys306Ile)
| |
| 4 | g.122742810A>C | CA358223994 | BBS12 | c.918A>C (p.Lys306Asn)
| |
| 4 | g.122742810A>G | CA441120828 | BBS12 | c.918A>G (p.Lys306=)
| gnomAD v4 |
| 4 | g.122742810A>T | CA358223995 | BBS12 | c.918A>T (p.Lys306Asn)
| |
| 4 | g.122742811C>A | CA358223996 | BBS12 | c.919C>A (p.Pro307Thr)
| |
| 4 | g.122742811C>G | CA358223997 | BBS12 | c.919C>G (p.Pro307Ala)
| |
| 4 | g.122742811C>T | CA358223998 | BBS12 | c.919C>T (p.Pro307Ser)
| gnomAD v4 |
| 4 | g.122742812C>A | CA358223999 | BBS12 | c.920C>A (p.Pro307Gln)
| |
| 4 | g.122742812C>G | CA358224000 | BBS12 | c.920C>G (p.Pro307Arg)
| |
| 4 | g.122742812C>T | CA358224001 | BBS12 | c.920C>T (p.Pro307Leu)
| |
| 4 | g.122742813A>C | CA441120829 | BBS12 | c.921A>C (p.Pro307=)
| |
| 4 | g.122742813A>G | CA441120830 | BBS12 | c.921A>G (p.Pro307=)
| |
| 4 | g.122742813A>T | CA441120831 | BBS12 | c.921A>T (p.Pro307=)
| |
| 4 | g.122742814T>A | CA358224002 | BBS12 | c.922T>A (p.Phe308Ile)
| |
| 4 | g.122742814T>C | CA358224003 | BBS12 | c.922T>C (p.Phe308Leu)
| gnomAD v4 |
| 4 | g.122742814T>G | CA358224004 | BBS12 | c.922T>G (p.Phe308Val)
| |
| 4 | g.122742815T>A | CA358224005 | BBS12 | c.923T>A (p.Phe308Tyr)
| |
| 4 | g.122742815T>C | CA358224006 | BBS12 | c.923T>C (p.Phe308Ser)
| dbSNP gnomAD v4 |
| 4 | g.122742815T>G | CA358224007 | BBS12 | c.923T>G (p.Phe308Cys)
| |
| 4 | g.122742815T= | CA1490417791 | BBS12 | c.923T= (p.Phe308=)
| |
| 4 | g.122742815_122742817delinsTTA | CA1490417792 | BBS12 | c.923_925delinsTTA (p.Phe308=)
| |
| 4 | g.122742816T>A | CA358224008 | BBS12 | c.924T>A (p.Phe308Leu)
| |
| 4 | g.122742816T>C | CA441120832 | BBS12 | c.924T>C (p.Phe308=)
| |
| 4 | g.122742816T>G | CA358224009 | BBS12 | c.924T>G (p.Phe308Leu)
| |
| 4 | g.122742817_122742818del | CA1139658634 | BBS12 | c.925_926del (p.Met309ValfsTer2)
| ClinVar dbSNP |
| 4 | g.122742817A>C | CA358224010 | BBS12 | c.925A>C (p.Met309Leu)
| gnomAD v4 |
| 4 | g.122742817A>G | CA358224011 | BBS12 | c.925A>G (p.Met309Val)
| |
| 4 | g.122742817A>T | CA358224012 | BBS12 | c.925A>T (p.Met309Leu)
| |
| 4 | g.122742818T>A | CA358224013 | BBS12 | c.926T>A (p.Met309Lys)
| |
| 4 | g.122742818T>C | CA358224014 | BBS12 | c.926T>C (p.Met309Thr)
| |
| 4 | g.122742818T>G | CA358224015 | BBS12 | c.926T>G (p.Met309Arg)
| |
| 4 | g.122742819G>A | CA358224016 | BBS12 | c.927G>A (p.Met309Ile)
| dbSNP |
| 4 | g.122742819G>C | CA358224017 | BBS12 | c.927G>C (p.Met309Ile)
| |
| 4 | g.122742819G= | CA1490417793 | BBS12 | c.927G= (p.Met309=)
| |
| 4 | g.122742819G>T | CA358224018 | BBS12 | c.927G>T (p.Met309Ile)
| |
| 4 | g.122742820T>A | CA358224019 | BBS12 | c.928T>A (p.Phe310Ile)
| |
| 4 | g.122742820T>C | CA358224020 | BBS12 | c.928T>C (p.Phe310Leu)
| |
| 4 | g.122742820T>G | CA358224021 | BBS12 | c.928T>G (p.Phe310Val)
| |
| 4 | g.122742822dup | CA2578190010 | BBS12 | c.930dup (p.Asp311Ter)
| gnomAD v4 |
| 4 | g.122742821T>A | CA358224022 | BBS12 | c.929T>A (p.Phe310Tyr)
| |
| 4 | g.122742821T>C | CA358224024 | BBS12 | c.929T>C (p.Phe310Ser)
| |
| 4 | g.122742821T>G | CA358224023 | BBS12 | c.929T>G (p.Phe310Cys)
| |
| 4 | g.122742822T>A | CA358224025 | BBS12 | c.930T>A (p.Phe310Leu)
| |
| 4 | g.122742822T>C | CA441120833 | BBS12 | c.930T>C (p.Phe310=)
| |
| 4 | g.122742822T>G | CA358224026 | BBS12 | c.930T>G (p.Phe310Leu)
| |
| 4 | g.122742823G>A | CA358224027 | BBS12 | c.931G>A (p.Asp311Asn)
| |
| 4 | g.122742823G>C | CA358224028 | BBS12 | c.931G>C (p.Asp311His)
| |
| 4 | g.122742823G>T | CA358224029 | BBS12 | c.931G>T (p.Asp311Tyr)
| |
| 4 | g.122742824A>C | CA358224030 | BBS12 | c.932A>C (p.Asp311Ala)
| |
| 4 | g.122742824A>G | CA358224031 | BBS12 | c.932A>G (p.Asp311Gly)
| |
| 4 | g.122742824A>T | CA358224032 | BBS12 | c.932A>T (p.Asp311Val)
| |
| 4 | g.122742825C>A | CA358224033 | BBS12 | c.933C>A (p.Asp311Glu)
| |
| 4 | g.122742825C= | CA1490417794 | BBS12 | c.933C= (p.Asp311=)
| |
| 4 | g.122742825C>G | CA358224034 | BBS12 | c.933C>G (p.Asp311Glu)
| |
| 4 | g.122742825C>T | CA3069349 | BBS12 | c.933C>T (p.Asp311=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.122742826A>C | CA358224035 | BBS12 | c.934A>C (p.Ile312Leu)
| |
| 4 | g.122742826A>G | CA358224036 | BBS12 | c.934A>G (p.Ile312Val)
| dbSNP gnomAD v4 |
| 4 | g.122742826A>T | CA358224037 | BBS12 | c.934A>T (p.Ile312Phe)
| |
| 4 | g.122742827T>A | CA358224040 | BBS12 | c.935T>A (p.Ile312Asn)
| |
| 4 | g.122742827T>C | CA358224038 | BBS12 | c.935T>C (p.Ile312Thr)
| |
| 4 | g.122742827T>G | CA358224039 | BBS12 | c.935T>G (p.Ile312Ser)
| |
| 4 | g.122742828T>A | CA441120834 | BBS12 | c.936T>A (p.Ile312=)
| |
| 4 | g.122742828T>C | CA441120835 | BBS12 | c.936T>C (p.Ile312=)
| |
| 4 | g.122742828T>G | CA358224041 | BBS12 | c.936T>G (p.Ile312Met)
| |
| 4 | g.122742829T>A | CA358224042 | BBS12 | c.937T>A (p.Ser313Thr)
| |
| 4 | g.122742829T>C | CA358224043 | BBS12 | c.937T>C (p.Ser313Pro)
| |
| 4 | g.122742829T>G | CA358224044 | BBS12 | c.937T>G (p.Ser313Ala)
| |
| 4 | g.122742830C>A | CA358224045 | BBS12 | c.938C>A (p.Ser313Ter)
| |
| 4 | g.122742830C>G | CA358224046 | BBS12 | c.938C>G (p.Ser313Ter)
| gnomAD v4 |
| 4 | g.122742830C>T | CA358224047 | BBS12 | c.938C>T (p.Ser313Leu)
| |
| 4 | g.122742831A>C | CA441120836 | BBS12 | c.939A>C (p.Ser313=)
| |
| 4 | g.122742831A>G | CA441120838 | BBS12 | c.939A>G (p.Ser313=)
| gnomAD v4 COSMIC |
| 4 | g.122742831A>T | CA441120837 | BBS12 | c.939A>T (p.Ser313=)
| |
| 4 | g.122742832A= | CA1490417795 | BBS12 | c.940A= (p.Arg314=)
| |
| 4 | g.122742832A>C | CA441120839 | BBS12 | c.940A>C (p.Arg314=)
| |
| 4 | g.122742832A>G | CA3069350 | BBS12 | c.940A>G (p.Arg314Gly)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.122742832A>T | CA358224048 | BBS12 | c.940A>T (p.Arg314Ter)
| |
| 4 | g.122742833G>A | CA358224049 | BBS12 | c.941G>A (p.Arg314Lys)
| |
| 4 | g.122742833G>C | CA358224050 | BBS12 | c.941G>C (p.Arg314Thr)
| dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.122742833G>T | CA358224051 | BBS12 | c.941G>T (p.Arg314Ile)
| COSMIC |
| 4 | g.122742834A= | CA1490417796 | BBS12 | c.942A= (p.Arg314=)
| |
| 4 | g.122742834A>C | CA358224052 | BBS12 | c.942A>C (p.Arg314Ser)
| |
| 4 | g.122742834A>G | CA441120840 | BBS12 | c.942A>G (p.Arg314=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.122742834A>T | CA358224053 | BBS12 | c.942A>T (p.Arg314Ser)
| |
| 4 | g.122742835A>C | CA358224054 | BBS12 | c.943A>C (p.Ile315Leu)
| |
| 4 | g.122742835A>G | CA358224055 | BBS12 | c.943A>G (p.Ile315Val)
| |
| 4 | g.122742835A>T | CA358224056 | BBS12 | c.943A>T (p.Ile315Phe)
| |
| 4 | g.122742836T>A | CA358224057 | BBS12 | c.944T>A (p.Ile315Asn)
| |
| 4 | g.122742836T>C | CA358224058 | BBS12 | c.944T>C (p.Ile315Thr)
| gnomAD v4 |
| 4 | g.122742836T>G | CA358224059 | BBS12 | c.944T>G (p.Ile315Ser)
| |
| 4 | g.122742837T>A | CA441120841 | BBS12 | c.945T>A (p.Ile315=)
| |
| 4 | g.122742837T>C | CA441120842 | BBS12 | c.945T>C (p.Ile315=)
| |
| 4 | g.122742837T>G | CA358224060 | BBS12 | c.945T>G (p.Ile315Met)
| |
| 4 | g.122742838T>A | CA358224061 | BBS12 | c.946T>A (p.Phe316Ile)
| |
| 4 | g.122742838T>C | CA358224062 | BBS12 | c.946T>C (p.Phe316Leu)
| dbSNP |
| 4 | g.122742838T>G | CA358224063 | BBS12 | c.946T>G (p.Phe316Val)
| |
| 4 | g.122742838T= | CA1490417797 | BBS12 | c.946T= (p.Phe316=)
| |
| 4 | g.122742840_122742844del | CA2695198523 | BBS12 | c.948_952del (p.Phe316LeufsTer8)
| ClinVar |
| 4 | g.122742839T>A | CA358224064 | BBS12 | c.947T>A (p.Phe316Tyr)
| |
| 4 | g.122742839T>C | CA358224065 | BBS12 | c.947T>C (p.Phe316Ser)
| |
| 4 | g.122742839T>G | CA358224066 | BBS12 | c.947T>G (p.Phe316Cys)
| |
| 4 | g.122742840C>A | CA358224068 | BBS12 | c.948C>A (p.Phe316Leu)
| |
| 4 | g.122742840C>G | CA358224067 | BBS12 | c.948C>G (p.Phe316Leu)
| |
| 4 | g.122742840C>T | CA441120843 | BBS12 | c.948C>T (p.Phe316=)
| ClinVar dbSNP |
| 4 | g.122742841A>C | CA358224069 | BBS12 | c.949A>C (p.Thr317Pro)
| |
| 4 | g.122742841A>G | CA358224070 | BBS12 | c.949A>G (p.Thr317Ala)
| |
| 4 | g.122742841A>T | CA358224071 | BBS12 | c.949A>T (p.Thr317Ser)
| |
| 4 | g.122742842C>A | CA358224072 | BBS12 | c.950C>A (p.Thr317Asn)
| |
| 4 | g.122742842C= | CA1490417798 | BBS12 | c.950C= (p.Thr317=)
| |
| 4 | g.122742842C>G | CA358224073 | BBS12 | c.950C>G (p.Thr317Ser)
| |
| 4 | g.122742842C>T | CA358224074 | BBS12 | c.950C>T (p.Thr317Ile)
| dbSNP gnomAD v4 |
| 4 | g.122742843T>A | CA441120844 | BBS12 | c.951T>A (p.Thr317=)
| |
| 4 | g.122742843T>C | CA441120845 | BBS12 | c.951T>C (p.Thr317=)
| ClinVar |
| 4 | g.122742843T>G | CA441120846 | BBS12 | c.951T>G (p.Thr317=)
| |
| 4 | g.122742844T>A | CA358224075 | BBS12 | c.952T>A (p.Cys318Ser)
| |
| 4 | g.122742844T>C | CA358224076 | BBS12 | c.952T>C (p.Cys318Arg)
| |
| 4 | g.122742844T>G | CA358224077 | BBS12 | c.952T>G (p.Cys318Gly)
| |
| 4 | g.122742844T= | CA1490417799 | BBS12 | c.952T= (p.Cys318=)
| |
| 4 | g.122742845G>A | CA3069352 | BBS12 | c.953G>A (p.Cys318Tyr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.122742845G>C | CA358224078 | BBS12 | c.953G>C (p.Cys318Ser)
| |
| 4 | g.122742845G= | CA1490417800 | BBS12 | c.953G= (p.Cys318=)
| |
| 4 | g.122742845G>T | CA358224079 | BBS12 | c.953G>T (p.Cys318Phe)
| |
| 4 | g.122742845dup | CA3069351 | BBS12 | c.953dup (p.Cys318TrpfsTer8)
| dbSNP ExAC gnomAD v2 |
| 4 | g.122742846C>A | CA358224081 | BBS12 | c.954C>A (p.Cys318Ter)
| |
| 4 | g.122742846C>G | CA358224080 | BBS12 | c.954C>G (p.Cys318Trp)
| |
| 4 | g.122742846C>T | CA441120847 | BBS12 | c.954C>T (p.Cys318=)
| |
| 4 | g.122742847T>A | CA358224082 | BBS12 | c.955T>A (p.Cys319Ser)
| |
| 4 | g.122742847T>C | CA358224084 | BBS12 | c.955T>C (p.Cys319Arg)
| |
| 4 | g.122742847T>G | CA358224083 | BBS12 | c.955T>G (p.Cys319Gly)
| |
| 4 | g.122742848G>A | CA358224085 | BBS12 | c.956G>A (p.Cys319Tyr)
| gnomAD v4 |
| 4 | g.122742848G>C | CA358224087 | BBS12 | c.956G>C (p.Cys319Ser)
| |
| 4 | g.122742848G>T | CA358224086 | BBS12 | c.956G>T (p.Cys319Phe)
| |
| 4 | g.122742849T>A | CA358224088 | BBS12 | c.957T>A (p.Cys319Ter)
| |
| 4 | g.122742849T>C | CA441120848 | BBS12 | c.957T>C (p.Cys319=)
| |
| 4 | g.122742849T>G | CA3069353 | BBS12 | c.957T>G (p.Cys319Trp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.122742849T= | CA1490417801 | BBS12 | c.957T= (p.Cys319=)
| |
| 4 | g.122742850C>A | CA358224089 | BBS12 | c.958C>A (p.Leu320Ile)
| |
| 4 | g.122742850C>G | CA358224090 | BBS12 | c.958C>G (p.Leu320Val)
| |
| 4 | g.122742850C>T | CA441120849 | BBS12 | c.958C>T (p.Leu320=)
| |
| 4 | g.122742851T>A | CA358224091 | BBS12 | c.959T>A (p.Leu320Gln)
| |
| 4 | g.122742851T>C | CA358224092 | BBS12 | c.959T>C (p.Leu320Pro)
| gnomAD v4 |
| 4 | g.122742851T>G | CA358224093 | BBS12 | c.959T>G (p.Leu320Arg)
| |
| 4 | g.122742852A= | CA1490417802 | BBS12 | c.960A= (p.Leu320=)
| |
| 4 | g.122742852A>C | CA441120850 | BBS12 | c.960A>C (p.Leu320=)
| |
| 4 | g.122742852A>G | CA441120851 | BBS12 | c.960A>G (p.Leu320=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.122742852A>T | CA441120852 | BBS12 | c.960A>T (p.Leu320=)
| |
| 4 | g.122742853C>A | CA358224094 | BBS12 | c.961C>A (p.Pro321Thr)
| |
| 4 | g.122742853C>G | CA358224095 | BBS12 | c.961C>G (p.Pro321Ala)
| ClinVar dbSNP |
| 4 | g.122742853C>T | CA358224096 | BBS12 | c.961C>T (p.Pro321Ser)
| |
| 4 | g.122742854C>A | CA358224099 | BBS12 | c.962C>A (p.Pro321Gln)
| gnomAD v4 |
| 4 | g.122742854C>G | CA358224098 | BBS12 | c.962C>G (p.Pro321Arg)
| gnomAD v4 |
| 4 | g.122742854C>T | CA358224097 | BBS12 | c.962C>T (p.Pro321Leu)
| |
| 4 | g.122742855A= | CA1490417803 | BBS12 | c.963A= (p.Pro321=)
| |
| 4 | g.122742855A>C | CA441120853 | BBS12 | c.963A>C (p.Pro321=)
| |
| 4 | g.122742855A>G | CA3069354 | BBS12 | c.963A>G (p.Pro321=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.122742855A>T | CA441120854 | BBS12 | c.963A>T (p.Pro321=)
| |
| 4 | g.122742856G>A | CA358224100 | BBS12 | c.964G>A (p.Gly322Ser)
| gnomAD v4 |
| 4 | g.122742856G>C | CA358224101 | BBS12 | c.964G>C (p.Gly322Arg)
| |
| 4 | g.122742856G>T | CA358224102 | BBS12 | c.964G>T (p.Gly322Cys)
| |
| 4 | g.122742857G>A | CA358224103 | BBS12 | c.965G>A (p.Gly322Asp)
| |
| 4 | g.122742857G>C | CA358224104 | BBS12 | c.965G>C (p.Gly322Ala)
| gnomAD v4 |
| 4 | g.122742857G>T | CA358224105 | BBS12 | c.965G>T (p.Gly322Val)
| |
| 4 | g.122742858C>A | CA441120857 | BBS12 | c.966C>A (p.Gly322=)
| gnomAD v4 |
| 4 | g.122742858C>G | CA441120856 | BBS12 | c.966C>G (p.Gly322=)
| |
| 4 | g.122742858C>T | CA441120855 | BBS12 | c.966C>T (p.Gly322=)
| |
| 4 | g.122742859T>A | CA358224106 | BBS12 | c.967T>A (p.Leu323Ile)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.122742859T>C | CA441120858 | BBS12 | c.967T>C (p.Leu323=)
| |
| 4 | g.122742859T>G | CA358224107 | BBS12 | c.967T>G (p.Leu323Val)
| |
| 4 | g.122742859T= | CA1490417804 | BBS12 | c.967T= (p.Leu323=)
| |
| 4 | g.122742860T>A | CA358224108 | BBS12 | c.968T>A (p.Leu323Ter)
| |
| 4 | g.122742860T>C | CA358224109 | BBS12 | c.968T>C (p.Leu323Ser)
| |
| 4 | g.122742860T>G | CA358224110 | BBS12 | c.968T>G (p.Leu323Ter)
| |
| 4 | g.122742861A>C | CA358224112 | BBS12 | c.969A>C (p.Leu323Phe)
| |
| 4 | g.122742861A>G | CA441120859 | BBS12 | c.969A>G (p.Leu323=)
| |
| 4 | g.122742861A>T | CA358224111 | BBS12 | c.969A>T (p.Leu323Phe)
| |
| 4 | g.122742862C>A | CA358224113 | BBS12 | c.970C>A (p.Pro324Thr)
| |
| 4 | g.122742862C>G | CA358224114 | BBS12 | c.970C>G (p.Pro324Ala)
| |
| 4 | g.122742862C>T | CA358224115 | BBS12 | c.970C>T (p.Pro324Ser)
| |
| 4 | g.122742863C>A | CA358224116 | BBS12 | c.971C>A (p.Pro324His)
| |
| 4 | g.122742863C= | CA1490417805 | BBS12 | c.971C= (p.Pro324=)
| |
| 4 | g.122742863C>G | CA358224117 | BBS12 | c.971C>G (p.Pro324Arg)
| gnomAD v4 |
| 4 | g.122742863C>T | CA358224118 | BBS12 | c.971C>T (p.Pro324Leu)
| dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.122742864T>A | CA441120860 | BBS12 | c.972T>A (p.Pro324=)
| |
| 4 | g.122742864T>C | CA441120862 | BBS12 | c.972T>C (p.Pro324=)
| |
| 4 | g.122742864T>G | CA441120861 | BBS12 | c.972T>G (p.Pro324=)
| |
| 4 | g.122742865G>A | CA358224121 | BBS12 | c.973G>A (p.Glu325Lys)
| |
| 4 | g.122742865G>C | CA358224119 | BBS12 | c.973G>C (p.Glu325Gln)
| |
| 4 | g.122742865G>T | CA358224120 | BBS12 | c.973G>T (p.Glu325Ter)
| |
| 4 | g.122742866A>C | CA358224122 | BBS12 | c.974A>C (p.Glu325Ala)
| |
| 4 | g.122742866A>G | CA358224123 | BBS12 | c.974A>G (p.Glu325Gly)
| |
| 4 | g.122742866A>T | CA358224124 | BBS12 | c.974A>T (p.Glu325Val)
| |
