| 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)
| |
| 4 | g.122742867A>C | CA358224125 | BBS12 | c.975A>C (p.Glu325Asp)
| |
| 4 | g.122742867A>G | CA441120865 | BBS12 | c.975A>G (p.Glu325=)
| ClinVar dbSNP gnomAD v4 |
| 4 | g.122742867A>T | CA358224126 | BBS12 | c.975A>T (p.Glu325Asp)
| |
| 4 | g.122742868A>C | CA358224127 | BBS12 | c.976A>C (p.Thr326Pro)
| |
| 4 | g.122742868A>G | CA358224129 | BBS12 | c.976A>G (p.Thr326Ala)
| |
| 4 | g.122742868A>T | CA358224128 | BBS12 | c.976A>T (p.Thr326Ser)
| |
| 4 | g.122742868_122742871delinsACTT | CA1490417806 | BBS12 | c.976_979delinsACTT (p.Thr326=)
| |
| 4 | g.122742869C>A | CA358224130 | BBS12 | c.977C>A (p.Thr326Asn)
| |
| 4 | g.122742869C= | CA1490417807 | BBS12 | c.977C= (p.Thr326=)
| |
| 4 | g.122742869C>G | CA358224131 | BBS12 | c.977C>G (p.Thr326Ser)
| |
| 4 | g.122742869C>T | CA3069356 | BBS12 | c.977C>T (p.Thr326Ile)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.122742875_122742877del | CA3069355 | BBS12 | c.983_985del (p.Ser328del)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.122742870T>A | CA241843 | BBS12 | c.978T>A (p.Thr326=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.122742870T>C | CA441120869 | BBS12 | c.978T>C (p.Thr326=)
| |
| 4 | g.122742870T>G | CA441120870 | BBS12 | c.978T>G (p.Thr326=)
| ClinVar gnomAD v4 COSMIC |
| 4 | g.122742870T= | CA1490417808 | BBS12 | c.978T= (p.Thr326=)
| |
| 4 | g.122742870_122742871delinsAA | CA1139658635 | BBS12 | c.978_979delinsAA (p.Ser327Thr)
| ClinVar |
| 4 | g.122742871T>A | CA241840 | BBS12 | c.979T>A (p.Ser327Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.122742871T>C | CA358224132 | BBS12 | c.979T>C (p.Ser327Pro)
| |
| 4 | g.122742871T>G | CA358224133 | BBS12 | c.979T>G (p.Ser327Ala)
| |
| 4 | g.122742871T= | CA1490417809 | BBS12 | c.979T= (p.Ser327=)
| |
| 4 | g.122742872C>A | CA358224134 | BBS12 | c.980C>A (p.Ser327Tyr)
| |
| 4 | g.122742872C>G | CA358224135 | BBS12 | c.980C>G (p.Ser327Cys)
| |
| 4 | g.122742872C>T | CA358224136 | BBS12 | c.980C>T (p.Ser327Phe)
| |
| 4 | g.122742873T>A | CA441120874 | BBS12 | c.981T>A (p.Ser327=)
| |
| 4 | g.122742873T>C | CA441120873 | BBS12 | c.981T>C (p.Ser327=)
| |
| 4 | g.122742873T>G | CA441120872 | BBS12 | c.981T>G (p.Ser327=)
| ClinVar dbSNP |
| 4 | g.122742874T>A | CA358224139 | BBS12 | c.982T>A (p.Ser328Thr)
| |
| 4 | g.122742874T>C | CA358224138 | BBS12 | c.982T>C (p.Ser328Pro)
| |
| 4 | g.122742874T>G | CA358224137 | BBS12 | c.982T>G (p.Ser328Ala)
| |
| 4 | g.122742875C>A | CA358224142 | BBS12 | c.983C>A (p.Ser328Tyr)
| COSMIC |
| 4 | g.122742875C>G | CA358224140 | BBS12 | c.983C>G (p.Ser328Cys)
| |
| 4 | g.122742875C>T | CA358224141 | BBS12 | c.983C>T (p.Ser328Phe)
| COSMIC |
| 4 | g.122742876T>A | CA441120876 | BBS12 | c.984T>A (p.Ser328=)
| |
| 4 | g.122742876T>C | CA441120877 | BBS12 | c.984T>C (p.Ser328=)
| dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.122742876T>G | CA441120878 | BBS12 | c.984T>G (p.Ser328=)
| |
| 4 | g.122742876T= | CA1490417810 | BBS12 | c.984T= (p.Ser328=)
| |
| 4 | g.122742877T>A | CA358224143 | BBS12 | c.985T>A (p.Cys329Ser)
| |
| 4 | g.122742877T>C | CA358224144 | BBS12 | c.985T>C (p.Cys329Arg)
| dbSNP gnomAD v4 |
| 4 | g.122742877T>G | CA358224145 | BBS12 | c.985T>G (p.Cys329Gly)
| |
| 4 | g.122742877T= | CA1490417811 | BBS12 | c.985T= (p.Cys329=)
| |
| 4 | g.122742878G>A | CA358224146 | BBS12 | c.986G>A (p.Cys329Tyr)
| ClinVar gnomAD v4 |
| 4 | g.122742878G>C | CA358224147 | BBS12 | c.986G>C (p.Cys329Ser)
| |
| 4 | g.122742878G>T | CA358224148 | BBS12 | c.986G>T (p.Cys329Phe)
| |
| 4 | g.122742879T>A | CA358224149 | BBS12 | c.987T>A (p.Cys329Ter)
| |
| 4 | g.122742879T>C | CA441120880 | BBS12 | c.987T>C (p.Cys329=)
| |
| 4 | g.122742879T>G | CA358224150 | BBS12 | c.987T>G (p.Cys329Trp)
| gnomAD v4 |
| 4 | g.122742880G>A | CA358224151 | BBS12 | c.988G>A (p.Val330Ile)
| |
| 4 | g.122742880G>C | CA358224152 | BBS12 | c.988G>C (p.Val330Leu)
| |
| 4 | g.122742880G>T | CA358224153 | BBS12 | c.988G>T (p.Val330Phe)
| |
| 4 | g.122742880_122742881delinsGT | CA1490417812 | BBS12 | c.988_989delinsGT (p.Val330=)
| |
| 4 | g.122742881T>A | CA358224156 | BBS12 | c.989T>A (p.Val330Asp)
| |
| 4 | g.122742881T>C | CA358224155 | BBS12 | c.989T>C (p.Val330Ala)
| |
| 4 | g.122742881T>G | CA358224154 | BBS12 | c.989T>G (p.Val330Gly)
| |
| 4 | g.122742883del | CA1490417813 | BBS12 | c.991del (p.Cys331ValfsTer15)
| dbSNP |
| 4 | g.122742882T>A | CA441120885 | BBS12 | c.990T>A (p.Val330=)
| |
| 4 | g.122742882T>C | CA441120886 | BBS12 | c.990T>C (p.Val330=)
| ClinVar |
| 4 | g.122742882T>G | CA441120887 | BBS12 | c.990T>G (p.Val330=)
| |
| 4 | g.122742883T>A | CA358224157 | BBS12 | c.991T>A (p.Cys331Ser)
| |
| 4 | g.122742883T>C | CA358224158 | BBS12 | c.991T>C (p.Cys331Arg)
| |
| 4 | g.122742883T>G | CA358224159 | BBS12 | c.991T>G (p.Cys331Gly)
| |
| 4 | g.122742884G>A | CA358224160 | BBS12 | c.992G>A (p.Cys331Tyr)
| |
| 4 | g.122742884G>C | CA358224161 | BBS12 | c.992G>C (p.Cys331Ser)
| |
| 4 | g.122742884G>T | CA358224162 | BBS12 | c.992G>T (p.Cys331Phe)
| COSMIC |
| 4 | g.122742885T>A | CA358224163 | BBS12 | c.993T>A (p.Cys331Ter)
| |
| 4 | g.122742885T>C | CA441120891 | BBS12 | c.993T>C (p.Cys331=)
| |
| 4 | g.122742885T>G | CA358224164 | BBS12 | c.993T>G (p.Cys331Trp)
| |
| 4 | g.122742886C>A | CA358224165 | BBS12 | c.994C>A (p.Pro332Thr)
| |
| 4 | g.122742886C= | CA1490417814 | BBS12 | c.994C= (p.Pro332=)
| |
| 4 | g.122742886C>G | CA3069357 | BBS12 | c.994C>G (p.Pro332Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.122742886C>T | CA358224166 | BBS12 | c.994C>T (p.Pro332Ser)
| |
| 4 | g.122742887C>A | CA358224167 | BBS12 | c.995C>A (p.Pro332Gln)
| dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.122742887C= | CA1490417815 | BBS12 | c.995C= (p.Pro332=)
| |
| 4 | g.122742887C>G | CA358224168 | BBS12 | c.995C>G (p.Pro332Arg)
| |
| 4 | g.122742887C>T | CA358224169 | BBS12 | c.995C>T (p.Pro332Leu)
| |
| 4 | g.122742888A= | CA1490417816 | BBS12 | c.996A= (p.Pro332=)
| |
| 4 | g.122742888A>C | CA441120892 | BBS12 | c.996A>C (p.Pro332=)
| |
| 4 | g.122742888A>G | CA441120893 | BBS12 | c.996A>G (p.Pro332=)
| dbSNP |
| 4 | g.122742888A>T | CA441120894 | BBS12 | c.996A>T (p.Pro332=)
| |
| 4 | g.122742889G>A | CA358224171 | BBS12 | c.997G>A (p.Gly333Arg)
| |
| 4 | g.122742889G>C | CA358224172 | BBS12 | c.997G>C (p.Gly333Arg)
| |
| 4 | g.122742889G>T | CA358224170 | BBS12 | c.997G>T (p.Gly333Ter)
| |
| 4 | g.122742890G>A | CA358224173 | BBS12 | c.998G>A (p.Gly333Glu)
| dbSNP gnomAD v4 |
| 4 | g.122742890G>C | CA358224174 | BBS12 | c.998G>C (p.Gly333Ala)
| |
| 4 | g.122742890G= | CA1490417817 | BBS12 | c.998G= (p.Gly333=)
| |
| 4 | g.122742890G>T | CA358224175 | BBS12 | c.998G>T (p.Gly333Val)
| |
| 4 | g.122742891A= | CA1490417818 | BBS12 | c.999A= (p.Gly333=)
| |
| 4 | g.122742891A>C | CA441120896 | BBS12 | c.999A>C (p.Gly333=)
| |
| 4 | g.122742891A>G | CA441120897 | BBS12 | c.999A>G (p.Gly333=)
| gnomAD v4 |
| 4 | g.122742891A>T | CA441120898 | BBS12 | c.999A>T (p.Gly333=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.122742892T>A | CA358224176 | BBS12 | c.1000T>A (p.Tyr334Asn)
| |
| 4 | g.122742892T>C | CA358224177 | BBS12 | c.1000T>C (p.Tyr334His)
| |
| 4 | g.122742892T>G | CA358224178 | BBS12 | c.1000T>G (p.Tyr334Asp)
| |
| 4 | g.122742893A= | CA1490417819 | BBS12 | c.1001A= (p.Tyr334=)
| |
| 4 | g.122742893A>C | CA358224181 | BBS12 | c.1001A>C (p.Tyr334Ser)
| |
| 4 | g.122742893A>G | CA358224179 | BBS12 | c.1001A>G (p.Tyr334Cys)
| ClinVar dbSNP gnomAD v4 |
| 4 | g.122742893A>T | CA358224180 | BBS12 | c.1001A>T (p.Tyr334Phe)
| |
| 4 | g.122742894T>A | CA358224182 | BBS12 | c.1002T>A (p.Tyr334Ter)
| |
| 4 | g.122742894T>C | CA441120900 | BBS12 | c.1002T>C (p.Tyr334=)
| ClinVar dbSNP |
| 4 | g.122742894T>G | CA358224183 | BBS12 | c.1002T>G (p.Tyr334Ter)
| |
| 4 | g.122742895A>C | CA358224184 | BBS12 | c.1003A>C (p.Ile335Leu)
| |
| 4 | g.122742895A>G | CA358224185 | BBS12 | c.1003A>G (p.Ile335Val)
| gnomAD v4 |
| 4 | g.122742895A>T | CA358224186 | BBS12 | c.1003A>T (p.Ile335Phe)
| |
| 4 | g.122742896T>A | CA358224187 | BBS12 | c.1004T>A (p.Ile335Asn)
| |
| 4 | g.122742896T>C | CA358224189 | BBS12 | c.1004T>C (p.Ile335Thr)
| gnomAD v4 |
| 4 | g.122742896T>G | CA358224188 | BBS12 | c.1004T>G (p.Ile335Ser)
| |
| 4 | g.122742897C>A | CA441120903 | BBS12 | c.1005C>A (p.Ile335=)
| ClinVar |
| 4 | g.122742897C>G | CA358224190 | BBS12 | c.1005C>G (p.Ile335Met)
| |
| 4 | g.122742897C>T | CA441120902 | BBS12 | c.1005C>T (p.Ile335=)
| COSMIC |
| 4 | g.122742898A>C | CA358224191 | BBS12 | c.1006A>C (p.Thr336Pro)
| |
| 4 | g.122742898A>G | CA358224192 | BBS12 | c.1006A>G (p.Thr336Ala)
| |
| 4 | g.122742898A>T | CA358224193 | BBS12 | c.1006A>T (p.Thr336Ser)
| |
| 4 | g.122742898_122742899delinsAC | CA1490417820 | BBS12 | c.1006_1007delinsAC (p.Thr336=)
| |
| 4 | g.122742899del | CA554527003 | BBS12 | c.1007del (p.Thr336MetfsTer10)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.122742899C>A | CA358224194 | BBS12 | c.1007C>A (p.Thr336Asn)
| ClinVar |
| 4 | g.122742899C= | CA1490417822 | BBS12 | c.1007C= (p.Thr336=)
| |
| 4 | g.122742899C>G | CA358224195 | BBS12 | c.1007C>G (p.Thr336Ser)
| |
| 4 | g.122742899C>T | CA358224196 | BBS12 | c.1007C>T (p.Thr336Ile)
| dbSNP gnomAD v4 |
| 4 | g.122742899_122742901del | CA913103435 | BBS12 | c.1007_1009del (p.Thr336_Val337delinsIle)
| |
| 4 | g.122742899_122742901delinsCTG | CA1490417821 | BBS12 | c.1007_1009delinsCTG (p.Thr336=)
| |
| 4 | g.122742900T>A | CA441120907 | BBS12 | c.1008T>A (p.Thr336=)
| |
| 4 | g.122742900T>C | CA3069358 | BBS12 | c.1008T>C (p.Thr336=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.122742900T>G | CA441120908 | BBS12 | c.1008T>G (p.Thr336=)
| |
| 4 | g.122742900T= | CA1490417823 | BBS12 | c.1008T= (p.Thr336=)
| |
| 4 | g.122742901_122742902del | CA658821373 | BBS12 | c.1009_1010del (p.Val337CysfsTer5)
| ClinVar dbSNP gnomAD v4 |
| 4 | g.122742901G>A | CA358224197 | BBS12 | c.1009G>A (p.Val337Ile)
| ClinVar dbSNP gnomAD v4 |
| 4 | g.122742901G>C | CA358224198 | BBS12 | c.1009G>C (p.Val337Leu)
| |
| 4 | g.122742901G= | CA1490417824 | BBS12 | c.1009G= (p.Val337=)
| |
| 4 | g.122742901G>T | CA358224199 | BBS12 | c.1009G>T (p.Val337Phe)
| |
| 4 | g.122742902T>A | CA358224201 | BBS12 | c.1010T>A (p.Val337Asp)
| dbSNP |
| 4 | g.122742902T>C | CA358224202 | BBS12 | c.1010T>C (p.Val337Ala)
| |
| 4 | g.122742902T>G | CA358224200 | BBS12 | c.1010T>G (p.Val337Gly)
| |
| 4 | g.122742902T= | CA1490417825 | BBS12 | c.1010T= (p.Val337=)
| |
| 4 | g.122742903T>A | CA441120910 | BBS12 | c.1011T>A (p.Val337=)
| |
| 4 | g.122742903T>C | CA3069359 | BBS12 | c.1011T>C (p.Val337=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.122742903T>G | CA441120911 | BBS12 | c.1011T>G (p.Val337=)
| |
| 4 | g.122742903T= | CA1490417826 | BBS12 | c.1011T= (p.Val337=)
| |
| 4 | g.122742904G>A | CA358224205 | BBS12 | c.1012G>A (p.Val338Met)
| dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.122742904G>C | CA358224203 | BBS12 | c.1012G>C (p.Val338Leu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.122742904G= | CA1490417827 | BBS12 | c.1012G= (p.Val338=)
| |
| 4 | g.122742904G>T | CA358224204 | BBS12 | c.1012G>T (p.Val338Leu)
| |
| 4 | g.122742905T>A | CA358224206 | BBS12 | c.1013T>A (p.Val338Glu)
| |
| 4 | g.122742905T>C | CA358224207 | BBS12 | c.1013T>C (p.Val338Ala)
| |
| 4 | g.122742905T>G | CA358224208 | BBS12 | c.1013T>G (p.Val338Gly)
| |
| 4 | g.122742906G>A | CA441120732 | BBS12 | c.1014G>A (p.Val338=)
| ClinVar gnomAD v4 |
| 4 | g.122742906G>C | CA441120733 | BBS12 | c.1014G>C (p.Val338=)
| |
| 4 | g.122742906G>T | CA441120734 | BBS12 | c.1014G>T (p.Val338=)
| |
| 4 | g.122742907T>A | CA358224211 | BBS12 | c.1015T>A (p.Ser339Thr)
| |
| 4 | g.122742907T>C | CA358224210 | BBS12 | c.1015T>C (p.Ser339Pro)
| |
| 4 | g.122742907T>G | CA358224209 | BBS12 | c.1015T>G (p.Ser339Ala)
| |
| 4 | g.122742908C>A | CA358224212 | BBS12 | c.1016C>A (p.Ser339Ter)
| |
| 4 | g.122742908C>G | CA358224213 | BBS12 | c.1016C>G (p.Ser339Ter)
| |
| 4 | g.122742908C>T | CA358224214 | BBS12 | c.1016C>T (p.Ser339Leu)
| |
| 4 | g.122742909A= | CA1490417828 | BBS12 | c.1017A= (p.Ser339=)
| |
| 4 | g.122742909A>C | CA441120735 | BBS12 | c.1017A>C (p.Ser339=)
| |
| 4 | g.122742909A>G | CA105249192 | BBS12 | c.1017A>G (p.Ser339=)
| dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.122742909A>T | CA441120736 | BBS12 | c.1017A>T (p.Ser339=)
| |
| 4 | g.122742910G>A | CA358224215 | BBS12 | c.1018G>A (p.Val340Ile)
| gnomAD v4 |
| 4 | g.122742910G>C | CA358224216 | BBS12 | c.1018G>C (p.Val340Leu)
| |
| 4 | g.122742910G>T | CA358224217 | BBS12 | c.1018G>T (p.Val340Leu)
| |
| 4 | g.122742911T>A | CA358224218 | BBS12 | c.1019T>A (p.Val340Glu)
| |
| 4 | g.122742911T>C | CA358224220 | BBS12 | c.1019T>C (p.Val340Ala)
| gnomAD v4 COSMIC |
| 4 | g.122742911T>G | CA358224219 | BBS12 | c.1019T>G (p.Val340Gly)
| |
| 4 | g.122742912A= | CA1490417829 | BBS12 | c.1020A= (p.Val340=)
| |
| 4 | g.122742912A>C | CA441120737 | BBS12 | c.1020A>C (p.Val340=)
| |
| 4 | g.122742912A>G | CA441120738 | BBS12 | c.1020A>G (p.Val340=)
| ClinVar dbSNP gnomAD v4 |
| 4 | g.122742912A>T | CA441120739 | BBS12 | c.1020A>T (p.Val340=)
| ClinVar |
| 4 | g.122742913T>A | CA358224221 | BBS12 | c.1021T>A (p.Ser341Thr)
| |
| 4 | g.122742913T>C | CA358224222 | BBS12 | c.1021T>C (p.Ser341Pro)
| |
| 4 | g.122742913T>G | CA358224223 | BBS12 | c.1021T>G (p.Ser341Ala)
| dbSNP |
| 4 | g.122742913T= | CA1490417830 | BBS12 | c.1021T= (p.Ser341=)
| |
| 4 | g.122742914C>A | CA358224224 | BBS12 | c.1022C>A (p.Ser341Tyr)
| dbSNP |
| 4 | g.122742914C= | CA1490417831 | BBS12 | c.1022C= (p.Ser341=)
| |
| 4 | g.122742914C>G | CA358224225 | BBS12 | c.1022C>G (p.Ser341Cys)
| |
| 4 | g.122742914C>T | CA3069360 | BBS12 | c.1022C>T (p.Ser341Phe)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.122742914_122742917del | CA913103436 | BBS12 | c.1022_1025del (p.Ser341LeufsTer4)
| |
| 4 | g.122742914_122742917delinsCTAA | CA1490417832 | BBS12 | c.1022_1025delinsCTAA (p.Ser341=)
| |
| 4 | g.122742915T>A | CA441120740 | BBS12 | c.1023T>A (p.Ser341=)
| |
| 4 | g.122742915T>C | CA441120741 | BBS12 | c.1023T>C (p.Ser341=)
| |
| 4 | g.122742915T>G | CA441120742 | BBS12 | c.1023T>G (p.Ser341=)
| |
| 4 | g.122742919_122742921del | CA658821374 | BBS12 | c.1027_1029del (p.Asn343del)
| ClinVar dbSNP gnomAD v4 |
| 4 | g.122742916A= | CA1490417833 | BBS12 | c.1024A= (p.Asn342=)
| |
| 4 | g.122742916A>C | CA358224226 | BBS12 | c.1024A>C (p.Asn342His)
| |
| 4 | g.122742916A>G | CA3069361 | BBS12 | c.1024A>G (p.Asn342Asp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.122742916A>T | CA358224227 | BBS12 | c.1024A>T (p.Asn342Tyr)
| |
| 4 | g.122742917A>C | CA358224228 | BBS12 | c.1025A>C (p.Asn342Thr)
| |
| 4 | g.122742917A>G | CA358224229 | BBS12 | c.1025A>G (p.Asn342Ser)
| |
| 4 | g.122742917A>T | CA358224230 | BBS12 | c.1025A>T (p.Asn342Ile)
| |
| 4 | g.122742918T>A | CA358224232 | BBS12 | c.1026T>A (p.Asn342Lys)
| gnomAD v4 |
| 4 | g.122742918T>C | CA441120743 | BBS12 | c.1026T>C (p.Asn342=)
| ClinVar gnomAD v4 |
| 4 | g.122742918T>G | CA358224231 | BBS12 | c.1026T>G (p.Asn342Lys)
| |
| 4 | g.122742919A>C | CA358224233 | BBS12 | c.1027A>C (p.Asn343His)
| |
| 4 | g.122742919A>G | CA358224234 | BBS12 | c.1027A>G (p.Asn343Asp)
| |
| 4 | g.122742919A>T | CA358224235 | BBS12 | c.1027A>T (p.Asn343Tyr)
| |
| 4 | g.122742920A>C | CA358224236 | BBS12 | c.1028A>C (p.Asn343Thr)
| |
| 4 | g.122742920A>G | CA358224237 | BBS12 | c.1028A>G (p.Asn343Ser)
| |
| 4 | g.122742920A>T | CA358224238 | BBS12 | c.1028A>T (p.Asn343Ile)
| |
| 4 | g.122742921T>A | CA358224240 | BBS12 | c.1029T>A (p.Asn343Lys)
| |
| 4 | g.122742921T>C | CA441120744 | BBS12 | c.1029T>C (p.Asn343=)
| |
| 4 | g.122742921T>G | CA358224239 | BBS12 | c.1029T>G (p.Asn343Lys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.122742921T= | CA1490417834 | BBS12 | c.1029T= (p.Asn343=)
| |
| 4 | g.122742922C>A | CA358224241 | BBS12 | c.1030C>A (p.Pro344Thr)
| dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.122742922C= | CA1490417835 | BBS12 | c.1030C= (p.Pro344=)
| |
| 4 | g.122742922C>G | CA358224242 | BBS12 | c.1030C>G (p.Pro344Ala)
| ClinVar gnomAD v4 |
| 4 | g.122742922C>T | CA358224243 | BBS12 | c.1030C>T (p.Pro344Ser)
| gnomAD v4 |
| 4 | g.122742923C>A | CA358224244 | BBS12 | c.1031C>A (p.Pro344His)
| |
| 4 | g.122742923C>G | CA358224245 | BBS12 | c.1031C>G (p.Pro344Arg)
| gnomAD v4 |
| 4 | g.122742923C>T | CA358224246 | BBS12 | c.1031C>T (p.Pro344Leu)
| dbSNP gnomAD v4 |
| 4 | g.122742924T>A | CA441120745 | BBS12 | c.1032T>A (p.Pro344=)
| |
| 4 | g.122742924T>C | CA441120746 | BBS12 | c.1032T>C (p.Pro344=)
| |
| 4 | g.122742924T>G | CA441120747 | BBS12 | c.1032T>G (p.Pro344=)
| dbSNP |
| 4 | g.122742924T= | CA1490417836 | BBS12 | c.1032T= (p.Pro344=)
| |
| 4 | g.122742925G>A | CA358224249 | BBS12 | c.1033G>A (p.Val345Met)
| dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.122742925G>C | CA358224247 | BBS12 | c.1033G>C (p.Val345Leu)
| |
| 4 | g.122742925G= | CA1490417837 | BBS12 | c.1033G= (p.Val345=)
| |
| 4 | g.122742925G>T | CA358224248 | BBS12 | c.1033G>T (p.Val345Leu)
| |
| 4 | g.122742926T>A | CA358224250 | BBS12 | c.1034T>A (p.Val345Glu)
| |
| 4 | g.122742926T>C | CA358224251 | BBS12 | c.1034T>C (p.Val345Ala)
| gnomAD v4 |
| 4 | g.122742926T>G | CA358224252 | BBS12 | c.1034T>G (p.Val345Gly)
| |
| 4 | g.122742927G>A | CA441120748 | BBS12 | c.1035G>A (p.Val345=)
| |
| 4 | g.122742927G>C | CA441120750 | BBS12 | c.1035G>C (p.Val345=)
| |
| 4 | g.122742927G>T | CA441120749 | BBS12 | c.1035G>T (p.Val345=)
| |
| 4 | g.122742928A>C | CA358224253 | BBS12 | c.1036A>C (p.Ile346Leu)
| |
| 4 | g.122742928A>G | CA358224254 | BBS12 | c.1036A>G (p.Ile346Val)
| |
| 4 | g.122742928A>T | CA358224255 | BBS12 | c.1036A>T (p.Ile346Phe)
| ClinVar |
| 4 | g.122742929T>A | CA358224256 | BBS12 | c.1037T>A (p.Ile346Asn)
| |
| 4 | g.122742929T>C | CA358224257 | BBS12 | c.1037T>C (p.Ile346Thr)
| ClinVar dbSNP |
| 4 | g.122742929T>G | CA358224258 | BBS12 | c.1037T>G (p.Ile346Ser)
| |
| 4 | g.122742929T= | CA1490417838 | BBS12 | c.1037T= (p.Ile346=)
| |
| 4 | g.122742930C>A | CA441120751 | BBS12 | c.1038C>A (p.Ile346=)
| gnomAD v4 |
| 4 | g.122742930C>G | CA358224259 | BBS12 | c.1038C>G (p.Ile346Met)
| |
| 4 | g.122742930C>T | CA441120752 | BBS12 | c.1038C>T (p.Ile346=)
| |
| 4 | g.122742931A>C | CA358224260 | BBS12 | c.1039A>C (p.Lys347Gln)
| |
| 4 | g.122742931A>G | CA358224261 | BBS12 | c.1039A>G (p.Lys347Glu)
| |
| 4 | g.122742931A>T | CA358224262 | BBS12 | c.1039A>T (p.Lys347Ter)
| |
| 4 | g.122742932A>C | CA358224263 | BBS12 | c.1040A>C (p.Lys347Thr)
| |
| 4 | g.122742932A>G | CA358224265 | BBS12 | c.1040A>G (p.Lys347Arg)
| |
| 4 | g.122742932A>T | CA358224264 | BBS12 | c.1040A>T (p.Lys347Met)
| |
| 4 | g.122742933G>A | CA441120753 | BBS12 | c.1041G>A (p.Lys347=)
| |
| 4 | g.122742933G>C | CA358224266 | BBS12 | c.1041G>C (p.Lys347Asn)
| |
| 4 | g.122742933G>T | CA358224267 | BBS12 | c.1041G>T (p.Lys347Asn)
| |
| 4 | g.122742934G>A | CA358224268 | BBS12 | c.1042G>A (p.Glu348Lys)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.122742934G>C | CA358224269 | BBS12 | c.1042G>C (p.Glu348Gln)
| |
| 4 | g.122742934G= | CA1490417840 | BBS12 | c.1042G= (p.Glu348=)
| |
| 4 | g.122742934G>T | CA358224270 | BBS12 | c.1042G>T (p.Glu348Ter)
| |
| 4 | g.122742934_122742935delinsGA | CA1490417839 | BBS12 | c.1042_1043delinsGA (p.Glu348=)
| |
| 4 | g.122742935A>C | CA358224271 | BBS12 | c.1043A>C (p.Glu348Ala)
| |
| 4 | g.122742935A>G | CA358224272 | BBS12 | c.1043A>G (p.Glu348Gly)
| |
| 4 | g.122742935A>T | CA358224273 | BBS12 | c.1043A>T (p.Glu348Val)
| |
| 4 | g.122742936dup | CA1490417841 | BBS12 | c.1044dup (p.Leu349IlefsTer12)
| dbSNP |
| 4 | g.122742936del | CA3069362 | BBS12 | c.1044del (p.Glu348AspfsTer9)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.122742936A>C | CA358224274 | BBS12 | c.1044A>C (p.Glu348Asp)
| |
| 4 | g.122742936A>G | CA441120754 | BBS12 | c.1044A>G (p.Glu348=)
| |
| 4 | g.122742936A>T | CA358224275 | BBS12 | c.1044A>T (p.Glu348Asp)
| |
| 4 | g.122742937T>A | CA358224276 | BBS12 | c.1045T>A (p.Leu349Met)
| |
| 4 | g.122742937T>C | CA105249193 | BBS12 | c.1045T>C (p.Leu349=)
| ClinVar dbSNP gnomAD v4 |
| 4 | g.122742937T>G | CA358224277 | BBS12 | c.1045T>G (p.Leu349Val)
| |
| 4 | g.122742937T= | CA1490417842 | BBS12 | c.1045T= (p.Leu349=)
| |
| 4 | g.122742938T>A | CA358224278 | BBS12 | c.1046T>A (p.Leu349Ter)
| |
| 4 | g.122742938T>C | CA358224279 | BBS12 | c.1046T>C (p.Leu349Ser)
| |
| 4 | g.122742938T>G | CA358224280 | BBS12 | c.1046T>G (p.Leu349Trp)
| |
| 4 | g.122742939G>A | CA441120755 | BBS12 | c.1047G>A (p.Leu349=)
| ClinVar dbSNP gnomAD v4 |
| 4 | g.122742939G>C | CA358224281 | BBS12 | c.1047G>C (p.Leu349Phe)
| |
| 4 | g.122742939G= | CA1490417843 | BBS12 | c.1047G= (p.Leu349=)
| |
| 4 | g.122742939G>T | CA358224282 | BBS12 | c.1047G>T (p.Leu349Phe)
| |
| 4 | g.122742940C>A | CA358224283 | BBS12 | c.1048C>A (p.Gln350Lys)
| |
| 4 | g.122742940C= | CA1490417844 | BBS12 | c.1048C= (p.Gln350=)
| |
| 4 | g.122742940C>G | CA358224284 | BBS12 | c.1048C>G (p.Gln350Glu)
| |
| 4 | g.122742940C>T | CA358224285 | BBS12 | c.1048C>T (p.Gln350Ter)
| ClinVar dbSNP |
| 4 | g.122742941A>C | CA358224286 | BBS12 | c.1049A>C (p.Gln350Pro)
| gnomAD v4 |
| 4 | g.122742941A>G | CA358224287 | BBS12 | c.1049A>G (p.Gln350Arg)
| |
| 4 | g.122742941A>T | CA358224288 | BBS12 | c.1049A>T (p.Gln350Leu)
| |
| 4 | g.122742942G>A | CA441120756 | BBS12 | c.1050G>A (p.Gln350=)
| |
| 4 | g.122742942G>C | CA3069363 | BBS12 | c.1050G>C (p.Gln350His)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.122742942G= | CA1490417845 | BBS12 | c.1050G= (p.Gln350=)
| |
| 4 | g.122742942G>T | CA358224289 | BBS12 | c.1050G>T (p.Gln350His)
| gnomAD v4 |
| 4 | g.122742943A>C | CA358224290 | BBS12 | c.1051A>C (p.Asn351His)
| gnomAD v4 |
| 4 | g.122742943A>G | CA358224291 | BBS12 | c.1051A>G (p.Asn351Asp)
| |
| 4 | g.122742943A>T | CA358224292 | BBS12 | c.1051A>T (p.Asn351Tyr)
| |
| 4 | g.122742944A>C | CA358224295 | BBS12 | c.1052A>C (p.Asn351Thr)
| |
| 4 | g.122742944A>G | CA358224294 | BBS12 | c.1052A>G (p.Asn351Ser)
| |
| 4 | g.122742944A>T | CA358224293 | BBS12 | c.1052A>T (p.Asn351Ile)
| |
| 4 | g.122742945T>A | CA358224296 | BBS12 | c.1053T>A (p.Asn351Lys)
| |
| 4 | g.122742945T>C | CA441120757 | BBS12 | c.1053T>C (p.Asn351=)
| ClinVar dbSNP gnomAD v4 |
| 4 | g.122742945T>G | CA358224297 | BBS12 | c.1053T>G (p.Asn351Lys)
| |
| 4 | g.122742945T= | CA1490417846 | BBS12 | c.1053T= (p.Asn351=)
| |
| 4 | g.122742946C>A | CA358224298 | BBS12 | c.1054C>A (p.Gln352Lys)
| |
| 4 | g.122742946C>G | CA358224299 | BBS12 | c.1054C>G (p.Gln352Glu)
| |
| 4 | g.122742946C>T | CA358224300 | BBS12 | c.1054C>T (p.Gln352Ter)
| |
| 4 | g.122742947A= | CA1490417847 | BBS12 | c.1055A= (p.Gln352=)
| |
| 4 | g.122742947A>C | CA3069364 | BBS12 | c.1055A>C (p.Gln352Pro)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.122742947A>G | CA3069365 | BBS12 | c.1055A>G (p.Gln352Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.122742947A>T | CA358224301 | BBS12 | c.1055A>T (p.Gln352Leu)
| |
| 4 | g.122742948G>A | CA441120758 | BBS12 | c.1056G>A (p.Gln352=)
| |
| 4 | g.122742948G>C | CA358224302 | BBS12 | c.1056G>C (p.Gln352His)
| |
| 4 | g.122742948G>T | CA358224303 | BBS12 | c.1056G>T (p.Gln352His)
| |
| 4 | g.122742949C>A | CA358224304 | BBS12 | c.1057C>A (p.Pro353Thr)
| |
| 4 | g.122742949C>G | CA358224305 | BBS12 | c.1057C>G (p.Pro353Ala)
| |
| 4 | g.122742949C>T | CA358224306 | BBS12 | c.1057C>T (p.Pro353Ser)
| |
| 4 | g.122742950C>A | CA358224309 | BBS12 | c.1058C>A (p.Pro353His)
| |
| 4 | g.122742950C= | CA1490417848 | BBS12 | c.1058C= (p.Pro353=)
| |
| 4 | g.122742950C>G | CA358224307 | BBS12 | c.1058C>G (p.Pro353Arg)
| |
| 4 | g.122742950C>T | CA358224308 | BBS12 | c.1058C>T (p.Pro353Leu)
| dbSNP |
| 4 | g.122742951T>A | CA441120759 | BBS12 | c.1059T>A (p.Pro353=)
| |
| 4 | g.122742951T>C | CA441120760 | BBS12 | c.1059T>C (p.Pro353=)
| |
| 4 | g.122742951T>G | CA441120761 | BBS12 | c.1059T>G (p.Pro353=)
| |
| 4 | g.122742952G>A | CA3069366 | BBS12 | c.1060G>A (p.Val354Met)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.122742952G>C | CA358224310 | BBS12 | c.1060G>C (p.Val354Leu)
| |
| 4 | g.122742952G= | CA1490417849 | BBS12 | c.1060G= (p.Val354=)
| |
| 4 | g.122742952G>T | CA358224311 | BBS12 | c.1060G>T (p.Val354Leu)
| |
| 4 | g.122742953T>A | CA358224312 | BBS12 | c.1061T>A (p.Val354Glu)
| |
| 4 | g.122742953T>C | CA358224313 | BBS12 | c.1061T>C (p.Val354Ala)
| gnomAD v4 |
| 4 | g.122742953T>G | CA358224314 | BBS12 | c.1061T>G (p.Val354Gly)
| |
| 4 | g.122742954G>A | CA3069368 | BBS12 | c.1062G>A (p.Val354=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.122742954G>C | CA3069367 | BBS12 | c.1062G>C (p.Val354=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.122742954G= | CA1490417850 | BBS12 | c.1062G= (p.Val354=)
| |
| 4 | g.122742954G>T | CA441120762 | BBS12 | c.1062G>T (p.Val354=)
| |
| 4 | g.122742955C>A | CA441120763 | BBS12 | c.1063C>A (p.Arg355=)
| gnomAD v4 |
| 4 | g.122742955C= | CA1490417851 | BBS12 | c.1063C= (p.Arg355=)
| |
| 4 | g.122742955C>G | CA358224315 | BBS12 | c.1063C>G (p.Arg355Gly)
| |
| 4 | g.122742955C>T | CA251706 | BBS12 | c.1063C>T (p.Arg355Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.122742956G>A | CA358224316 | BBS12 | c.1064G>A (p.Arg355Gln)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.122742956G>C | CA358224317 | BBS12 | c.1064G>C (p.Arg355Pro)
| |
| 4 | g.122742956G= | CA1490417852 | BBS12 | c.1064G= (p.Arg355=)
| |
| 4 | g.122742956G>T | CA358224318 | BBS12 | c.1064G>T (p.Arg355Leu)
| |
| 4 | g.122742957A>C | CA441120765 | BBS12 | c.1065A>C (p.Arg355=)
| |
| 4 | g.122742957A>G | CA441120766 | BBS12 | c.1065A>G (p.Arg355=)
| |
| 4 | g.122742957A>T | CA441120764 | BBS12 | c.1065A>T (p.Arg355=)
| |
| 4 | g.122742958A>C | CA358224319 | BBS12 | c.1066A>C (p.Ile356Leu)
| |
| 4 | g.122742958A>G | CA358224321 | BBS12 | c.1066A>G (p.Ile356Val)
| |
| 4 | g.122742958A>T | CA358224320 | BBS12 | c.1066A>T (p.Ile356Leu)
| |
| 4 | g.122742959T>A | CA358224322 | BBS12 | c.1067T>A (p.Ile356Lys)
| |
| 4 | g.122742959T>C | CA358224324 | BBS12 | c.1067T>C (p.Ile356Thr)
| |
| 4 | g.122742959T>G | CA358224323 | BBS12 | c.1067T>G (p.Ile356Arg)
| |
| 4 | g.122742960A= | CA1490417853 | BBS12 | c.1068A= (p.Ile356=)
| |
| 4 | g.122742960A>C | CA441120767 | BBS12 | c.1068A>C (p.Ile356=)
| gnomAD v4 |
| 4 | g.122742960A>G | CA358224325 | BBS12 | c.1068A>G (p.Ile356Met)
| dbSNP gnomAD v4 |
| 4 | g.122742960A>T | CA441120768 | BBS12 | c.1068A>T (p.Ile356=)
| |
| 4 | g.122742961_122742989del | CA2697546895 | BBS12 | c.1069_1097del (p.Val357LeufsTer7)
| ClinVar |
