12 | g.76347066T>A | CA385813623 | BBS10 | c.919A>T (p.Lys307Ter)
| |
12 | g.76347066T>C | CA385813624 | BBS10 | c.919A>G (p.Lys307Glu)
| |
12 | g.76347066T>G | CA385813626 | BBS10 | c.919A>C (p.Lys307Gln)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76347066T= | CA2047353612 | BBS10 | c.919A= (p.Lys307=)
| |
12 | g.76347067T>A | CA481011663 | BBS10 | c.918A>T (p.Val306=)
| |
12 | g.76347067T>C | CA481011665 | BBS10 | c.918A>G (p.Val306=)
| |
12 | g.76347067T>G | CA481011664 | BBS10 | c.918A>C (p.Val306=)
| |
12 | g.76347068A>C | CA385813628 | BBS10 | c.917T>G (p.Val306Gly)
| |
12 | g.76347068A>G | CA385813630 | BBS10 | c.917T>C (p.Val306Ala)
| |
12 | g.76347068A>T | CA385813632 | BBS10 | c.917T>A (p.Val306Glu)
| |
12 | g.76347069C>A | CA385813633 | BBS10 | c.916G>T (p.Val306Leu)
| |
12 | g.76347069C>G | CA385813635 | BBS10 | c.916G>C (p.Val306Leu)
| |
12 | g.76347069C>T | CA385813637 | BBS10 | c.916G>A (p.Val306Ile)
| |
12 | g.76347070A>C | CA385813639 | BBS10 | c.915T>G (p.Asn305Lys)
| |
12 | g.76347070A>G | CA481011667 | BBS10 | c.915T>C (p.Asn305=)
| |
12 | g.76347070A>T | CA385813641 | BBS10 | c.915T>A (p.Asn305Lys)
| |
12 | g.76347071T>A | CA385813643 | BBS10 | c.914A>T (p.Asn305Ile)
| |
12 | g.76347071T>C | CA385813645 | BBS10 | c.914A>G (p.Asn305Ser)
| |
12 | g.76347071T>G | CA385813647 | BBS10 | c.914A>C (p.Asn305Thr)
| |
12 | g.76347072T>A | CA385813648 | BBS10 | c.913A>T (p.Asn305Tyr)
| |
12 | g.76347072T>C | CA385813649 | BBS10 | c.913A>G (p.Asn305Asp)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.76347072T>G | CA385813651 | BBS10 | c.913A>C (p.Asn305His)
| |
12 | g.76347072T= | CA2047353614 | BBS10 | c.913A= (p.Asn305=)
| |
12 | g.76347072_76347076delinsTCTGA | CA2047353613 | BBS10 | c.909_913delinsTCAGA (p.Ser303=)
| |
12 | g.76347073C>A | CA385813654 | BBS10 | c.912G>T (p.Gln304His)
| |
12 | g.76347073C>G | CA385813655 | BBS10 | c.912G>C (p.Gln304His)
| |
12 | g.76347073C>T | CA481011671 | BBS10 | c.912G>A (p.Gln304=)
| ClinVar |
12 | g.76347075_76347078del | CA6694266 | BBS10 | c.909_912del (p.Ser303ArgfsTer3)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76347074T>A | CA385813658 | BBS10 | c.911A>T (p.Gln304Leu)
| |
12 | g.76347074T>C | CA385813659 | BBS10 | c.911A>G (p.Gln304Arg)
| |
12 | g.76347074T>G | CA385813662 | BBS10 | c.911A>C (p.Gln304Pro)
| |
12 | g.76347075G>A | CA385813668 | BBS10 | c.910C>T (p.Gln304Ter)
| |
12 | g.76347075G>C | CA385813667 | BBS10 | c.910C>G (p.Gln304Glu)
| |
12 | g.76347075G>T | CA385813665 | BBS10 | c.910C>A (p.Gln304Lys)
| |
12 | g.76347076A>C | CA385813672 | BBS10 | c.909T>G (p.Ser303Arg)
| |
12 | g.76347076A>G | CA481011677 | BBS10 | c.909T>C (p.Ser303=)
| |
12 | g.76347076A>T | CA385813670 | BBS10 | c.909T>A (p.Ser303Arg)
| |
12 | g.76347077C>A | CA385813675 | BBS10 | c.908G>T (p.Ser303Ile)
| |
12 | g.76347077C= | CA2047353615 | BBS10 | c.908G= (p.Ser303=)
| |
12 | g.76347077C>G | CA385813678 | BBS10 | c.908G>C (p.Ser303Thr)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76347077C>T | CA385813681 | BBS10 | c.908G>A (p.Ser303Asn)
| |
12 | g.76347078T>A | CA385813683 | BBS10 | c.907A>T (p.Ser303Cys)
| |
12 | g.76347078T>C | CA385813685 | BBS10 | c.907A>G (p.Ser303Gly)
| gnomAD v4 |
12 | g.76347078T>G | CA385813687 | BBS10 | c.907A>C (p.Ser303Arg)
| |
12 | g.76347079A>C | CA385813690 | BBS10 | c.906T>G (p.His302Gln)
| gnomAD v4 |
12 | g.76347079A>G | CA481011683 | BBS10 | c.906T>C (p.His302=)
| |
12 | g.76347079A>T | CA385813688 | BBS10 | c.906T>A (p.His302Gln)
| |
12 | g.76347080T>A | CA385813692 | BBS10 | c.905A>T (p.His302Leu)
| |
12 | g.76347080T>C | CA6694267 | BBS10 | c.905A>G (p.His302Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76347080T>G | CA385813695 | BBS10 | c.905A>C (p.His302Pro)
| |
12 | g.76347080T= | CA2047353616 | BBS10 | c.905A= (p.His302=)
| |
12 | g.76347081G>A | CA239332161 | BBS10 | c.904C>T (p.His302Tyr)
| ClinVar dbSNP gnomAD v4 |
12 | g.76347081G>C | CA385813697 | BBS10 | c.904C>G (p.His302Asp)
| |
12 | g.76347081G= | CA2047353617 | BBS10 | c.904C= (p.His302=)
| |
12 | g.76347081G>T | CA385813700 | BBS10 | c.904C>A (p.His302Asn)
| gnomAD v4 |
12 | g.76347082T>A | CA481011685 | BBS10 | c.903A>T (p.Leu301=)
| |
12 | g.76347082T>C | CA481011688 | BBS10 | c.903A>G (p.Leu301=)
| ClinVar dbSNP gnomAD v4 |
12 | g.76347082T>G | CA481011691 | BBS10 | c.903A>C (p.Leu301=)
| |
12 | g.76347083A>C | CA385813702 | BBS10 | c.902T>G (p.Leu301Arg)
| |
12 | g.76347083A>G | CA385813706 | BBS10 | c.902T>C (p.Leu301Pro)
| |
12 | g.76347083A>T | CA385813704 | BBS10 | c.902T>A (p.Leu301Gln)
| |
12 | g.76347083_76347086delinsAGAT | CA2047353618 | BBS10 | c.899_902delinsATCT (p.His300=)
| |
12 | g.76347084G>A | CA481011692 | BBS10 | c.901C>T (p.Leu301=)
| |
12 | g.76347084G>C | CA385813708 | BBS10 | c.901C>G (p.Leu301Val)
| ClinVar dbSNP |
12 | g.76347084G= | CA2047353619 | BBS10 | c.901C= (p.Leu301=)
| |
12 | g.76347084G>T | CA385813710 | BBS10 | c.901C>A (p.Leu301Ile)
| |
12 | g.76347085_76347087del | CA658797935 | BBS10 | c.899_901del (p.His300del)
| ClinVar dbSNP |
12 | g.76347085A>C | CA385813712 | BBS10 | c.900T>G (p.His300Gln)
| |
12 | g.76347085A>G | CA481011693 | BBS10 | c.900T>C (p.His300=)
| |
12 | g.76347085A>T | CA385813713 | BBS10 | c.900T>A (p.His300Gln)
| |
12 | g.76347086T>A | CA385813716 | BBS10 | c.899A>T (p.His300Leu)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.76347086T>C | CA385813718 | BBS10 | c.899A>G (p.His300Arg)
| |
12 | g.76347086T>G | CA6694268 | BBS10 | c.899A>C (p.His300Pro)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.76347086T= | CA2047353620 | BBS10 | c.899A= (p.His300=)
| |
12 | g.76347087G>A | CA385813721 | BBS10 | c.898C>T (p.His300Tyr)
| |
12 | g.76347087G>C | CA385813723 | BBS10 | c.898C>G (p.His300Asp)
| |
12 | g.76347087G= | CA2047353621 | BBS10 | c.898C= (p.His300=)
| |
12 | g.76347087G>T | CA385813724 | BBS10 | c.898C>A (p.His300Asn)
| |
12 | g.76347088T>A | CA385813727 | BBS10 | c.897A>T (p.Lys299Asn)
| |
12 | g.76347088T>C | CA481011696 | BBS10 | c.897A>G (p.Lys299=)
| |
12 | g.76347088T>G | CA385813728 | BBS10 | c.897A>C (p.Lys299Asn)
| |
12 | g.76347088_76347091dup | CA691960149 | BBS10 | c.894_897dup (p.His300GlufsTer5)
| ClinVar dbSNP |
12 | g.76347089T>A | CA385813733 | BBS10 | c.896A>T (p.Lys299Ile)
| |
12 | g.76347089T>C | CA385813735 | BBS10 | c.896A>G (p.Lys299Arg)
| |
12 | g.76347089T>G | CA385813730 | BBS10 | c.896A>C (p.Lys299Thr)
| |
12 | g.76347090T>A | CA385813736 | BBS10 | c.895A>T (p.Lys299Ter)
| |
12 | g.76347090T>C | CA385813740 | BBS10 | c.895A>G (p.Lys299Glu)
| |
12 | g.76347090T>G | CA385813738 | BBS10 | c.895A>C (p.Lys299Gln)
| |
12 | g.76347091C>A | CA385813742 | BBS10 | c.894G>T (p.Met298Ile)
| |
12 | g.76347091C>G | CA385813746 | BBS10 | c.894G>C (p.Met298Ile)
| |
12 | g.76347091C>T | CA385813747 | BBS10 | c.894G>A (p.Met298Ile)
| |
12 | g.76347092A>C | CA385813748 | BBS10 | c.893T>G (p.Met298Arg)
| |
12 | g.76347092A>G | CA385813750 | BBS10 | c.893T>C (p.Met298Thr)
| |
12 | g.76347092A>T | CA385813751 | BBS10 | c.893T>A (p.Met298Lys)
| |
12 | g.76347093T>A | CA385813754 | BBS10 | c.892A>T (p.Met298Leu)
| |
12 | g.76347093T>C | CA385813756 | BBS10 | c.892A>G (p.Met298Val)
| ClinVar |
12 | g.76347093T>G | CA385813757 | BBS10 | c.892A>C (p.Met298Leu)
| |
12 | g.76347094T>A | CA481011701 | BBS10 | c.891A>T (p.Ile297=)
| |
12 | g.76347094T>C | CA385813758 | BBS10 | c.891A>G (p.Ile297Met)
| |
12 | g.76347094T>G | CA481011702 | BBS10 | c.891A>C (p.Ile297=)
| |
12 | g.76347095A>C | CA385813766 | BBS10 | c.890T>G (p.Ile297Arg)
| gnomAD v4 |
12 | g.76347095A>G | CA385813767 | BBS10 | c.890T>C (p.Ile297Thr)
| |
12 | g.76347095A>T | CA385813770 | BBS10 | c.890T>A (p.Ile297Lys)
| |
12 | g.76347096T>A | CA385813776 | BBS10 | c.889A>T (p.Ile297Leu)
| |
12 | g.76347096T>C | CA385813772 | BBS10 | c.889A>G (p.Ile297Val)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.76347096T>G | CA385813775 | BBS10 | c.889A>C (p.Ile297Leu)
| |
12 | g.76347096T= | CA2047353622 | BBS10 | c.889A= (p.Ile297=)
| |
12 | g.76347097T>A | CA481011704 | BBS10 | c.888A>T (p.Ala296=)
| |
12 | g.76347097T>C | CA481011706 | BBS10 | c.888A>G (p.Ala296=)
| |
12 | g.76347097T>G | CA481011705 | BBS10 | c.888A>C (p.Ala296=)
| |
12 | g.76347098G>A | CA385813780 | BBS10 | c.887C>T (p.Ala296Val)
| |
12 | g.76347098G>C | CA385813782 | BBS10 | c.887C>G (p.Ala296Gly)
| |
12 | g.76347098G>T | CA385813784 | BBS10 | c.887C>A (p.Ala296Glu)
| gnomAD v4 |
12 | g.76347099C>A | CA385813789 | BBS10 | c.886G>T (p.Ala296Ser)
| |
12 | g.76347099C= | CA2047353623 | BBS10 | c.886G= (p.Ala296=)
| |
12 | g.76347099C>G | CA385813792 | BBS10 | c.886G>C (p.Ala296Pro)
| |
12 | g.76347099C>T | CA6694269 | BBS10 | c.886G>A (p.Ala296Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76347100T>A | CA385813798 | BBS10 | c.885A>T (p.Lys295Asn)
| |
12 | g.76347100T>C | CA481011708 | BBS10 | c.885A>G (p.Lys295=)
| |
12 | g.76347100T>G | CA385813799 | BBS10 | c.885A>C (p.Lys295Asn)
| |
12 | g.76347101T>A | CA385813802 | BBS10 | c.884A>T (p.Lys295Ile)
| |
12 | g.76347101T>C | CA385813804 | BBS10 | c.884A>G (p.Lys295Arg)
| |
12 | g.76347101T>G | CA385813805 | BBS10 | c.884A>C (p.Lys295Thr)
| dbSNP |
12 | g.76347101T= | CA2047353624 | BBS10 | c.884A= (p.Lys295=)
| |
12 | g.76347102T>A | CA385813812 | BBS10 | c.883A>T (p.Lys295Ter)
| ClinVar dbSNP |
12 | g.76347102T>C | CA385813810 | BBS10 | c.883A>G (p.Lys295Glu)
| gnomAD v4 |
12 | g.76347102T>G | CA385813808 | BBS10 | c.883A>C (p.Lys295Gln)
| |
12 | g.76347103T>A | CA481011710 | BBS10 | c.882A>T (p.Thr294=)
| |
12 | g.76347103T>C | CA481011711 | BBS10 | c.882A>G (p.Thr294=)
| |
12 | g.76347103T>G | CA481011712 | BBS10 | c.882A>C (p.Thr294=)
| |
12 | g.76347104G>A | CA6694270 | BBS10 | c.881C>T (p.Thr294Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76347104G>C | CA385813814 | BBS10 | c.881C>G (p.Thr294Arg)
| gnomAD v4 |
12 | g.76347104G= | CA2047353625 | BBS10 | c.881C= (p.Thr294=)
| |
12 | g.76347104G>T | CA385813816 | BBS10 | c.881C>A (p.Thr294Lys)
| |
12 | g.76347105T>A | CA385813818 | BBS10 | c.880A>T (p.Thr294Ser)
| |
12 | g.76347105T>C | CA385813819 | BBS10 | c.880A>G (p.Thr294Ala)
| |
12 | g.76347105T>G | CA385813820 | BBS10 | c.880A>C (p.Thr294Pro)
| |
12 | g.76347106C>A | CA385813821 | BBS10 | c.879G>T (p.Lys293Asn)
| |
12 | g.76347106C>G | CA385813822 | BBS10 | c.879G>C (p.Lys293Asn)
| gnomAD v4 |
12 | g.76347106C>T | CA481011717 | BBS10 | c.879G>A (p.Lys293=)
| ClinVar dbSNP gnomAD v4 |
12 | g.76347107T>A | CA385813823 | BBS10 | c.878A>T (p.Lys293Met)
| |
12 | g.76347107T>C | CA385813824 | BBS10 | c.878A>G (p.Lys293Arg)
| gnomAD v4 |
12 | g.76347107T>G | CA385813826 | BBS10 | c.878A>C (p.Lys293Thr)
| |
12 | g.76347108T>A | CA385813828 | BBS10 | c.877A>T (p.Lys293Ter)
| |
12 | g.76347108T>C | CA239332172 | BBS10 | c.877A>G (p.Lys293Glu)
| dbSNP |
12 | g.76347108T>G | CA385813830 | BBS10 | c.877A>C (p.Lys293Gln)
| |
12 | g.76347108T= | CA2047353626 | BBS10 | c.877A= (p.Lys293=)
| |
12 | g.76347109T>A | CA385813831 | BBS10 | c.876A>T (p.Glu292Asp)
| |
12 | g.76347109T>C | CA481011721 | BBS10 | c.876A>G (p.Glu292=)
| ClinVar dbSNP |
12 | g.76347109T>G | CA385813832 | BBS10 | c.876A>C (p.Glu292Asp)
| |
12 | g.76347110T>A | CA385813833 | BBS10 | c.875A>T (p.Glu292Val)
| |
12 | g.76347110T>C | CA385813835 | BBS10 | c.875A>G (p.Glu292Gly)
| |
12 | g.76347110T>G | CA385813836 | BBS10 | c.875A>C (p.Glu292Ala)
| |
12 | g.76347111C>A | CA385813837 | BBS10 | c.874G>T (p.Glu292Ter)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.76347111C= | CA2047353627 | BBS10 | c.874G= (p.Glu292=)
| |
12 | g.76347111C>G | CA385813839 | BBS10 | c.874G>C (p.Glu292Gln)
| |
12 | g.76347111C>T | CA385813840 | BBS10 | c.874G>A (p.Glu292Lys)
| |
12 | g.76347112C>A | CA385813842 | BBS10 | c.873G>T (p.Met291Ile)
| gnomAD v4 |
12 | g.76347112C>G | CA385813844 | BBS10 | c.873G>C (p.Met291Ile)
| |
12 | g.76347112C>T | CA385813846 | BBS10 | c.873G>A (p.Met291Ile)
| |
12 | g.76347113A>C | CA385813848 | BBS10 | c.872T>G (p.Met291Arg)
| |
12 | g.76347113A>G | CA385813851 | BBS10 | c.872T>C (p.Met291Thr)
| |
12 | g.76347113A>T | CA385813852 | BBS10 | c.872T>A (p.Met291Lys)
| |
12 | g.76347114_76347122del | CA2580086685 | BBS10 | c.864_872del (p.Phe288_Met291delinsLeu)
| ClinVar |
12 | g.76347114T>A | CA385813854 | BBS10 | c.871A>T (p.Met291Leu)
| gnomAD v4 |
12 | g.76347114T>C | CA385813858 | BBS10 | c.871A>G (p.Met291Val)
| |
12 | g.76347114T>G | CA385813856 | BBS10 | c.871A>C (p.Met291Leu)
| |
12 | g.76347115A>C | CA385813859 | BBS10 | c.870T>G (p.Ile290Met)
| |
12 | g.76347115A>G | CA481011727 | BBS10 | c.870T>C (p.Ile290=)
| |
12 | g.76347115A>T | CA481011728 | BBS10 | c.870T>A (p.Ile290=)
| |
12 | g.76347116A>C | CA385813861 | BBS10 | c.869T>G (p.Ile290Ser)
| |
12 | g.76347116A>G | CA385813860 | BBS10 | c.869T>C (p.Ile290Thr)
| |
12 | g.76347116A>T | CA385813862 | BBS10 | c.869T>A (p.Ile290Asn)
| |
12 | g.76347117T>A | CA385813863 | BBS10 | c.868A>T (p.Ile290Phe)
| |
12 | g.76347117T>C | CA385813864 | BBS10 | c.868A>G (p.Ile290Val)
| gnomAD v4 |
12 | g.76347117T>G | CA385813865 | BBS10 | c.868A>C (p.Ile290Leu)
| |
12 | g.76347118C>A | CA385813866 | BBS10 | c.867G>T (p.Trp289Cys)
| |
12 | g.76347118C>G | CA385813867 | BBS10 | c.867G>C (p.Trp289Cys)
| |
12 | g.76347118C>T | CA385813868 | BBS10 | c.867G>A (p.Trp289Ter)
| |
12 | g.76347119C>A | CA385813869 | BBS10 | c.866G>T (p.Trp289Leu)
| |
12 | g.76347119C>G | CA385813870 | BBS10 | c.866G>C (p.Trp289Ser)
| |
12 | g.76347119C>T | CA385813871 | BBS10 | c.866G>A (p.Trp289Ter)
| |
12 | g.76347120A>C | CA385813872 | BBS10 | c.865T>G (p.Trp289Gly)
| |
12 | g.76347120A>G | CA385813873 | BBS10 | c.865T>C (p.Trp289Arg)
| |
12 | g.76347120A>T | CA385813874 | BBS10 | c.865T>A (p.Trp289Arg)
| |
12 | g.76347123del | CA2831038983 | BBS10 | c.865del (p.Trp289GlyfsTer9)
| |
12 | g.76347121A>C | CA385813876 | BBS10 | c.864T>G (p.Phe288Leu)
| |
12 | g.76347121A>G | CA481011403 | BBS10 | c.864T>C (p.Phe288=)
| gnomAD v4 |
12 | g.76347121A>T | CA385813875 | BBS10 | c.864T>A (p.Phe288Leu)
| |
12 | g.76347122A>C | CA385813877 | BBS10 | c.863T>G (p.Phe288Cys)
| |
12 | g.76347122A>G | CA385813878 | BBS10 | c.863T>C (p.Phe288Ser)
| |
12 | g.76347122A>T | CA385813879 | BBS10 | c.863T>A (p.Phe288Tyr)
| |
12 | g.76347122_76347123insCCAAACACACCCAACAC | CA2796591358 | BBS10 | c.862_863insGTGTTGGGTGTGTTTGG (p.Phe288CysfsTer16)
| |
12 | g.76347123A>C | CA385813880 | BBS10 | c.862T>G (p.Phe288Val)
| |
12 | g.76347123A>G | CA385813881 | BBS10 | c.862T>C (p.Phe288Leu)
| |
12 | g.76347123A>T | CA385813882 | BBS10 | c.862T>A (p.Phe288Ile)
| |
12 | g.76347124T>A | CA385813883 | BBS10 | c.861A>T (p.Gln287His)
| |
12 | g.76347124T>C | CA6694271 | BBS10 | c.861A>G (p.Gln287=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76347124T>G | CA385813884 | BBS10 | c.861A>C (p.Gln287His)
| |
12 | g.76347124T= | CA2047353628 | BBS10 | c.861A= (p.Gln287=)
| |
12 | g.76347125T>A | CA385813885 | BBS10 | c.860A>T (p.Gln287Leu)
| |
12 | g.76347125T>C | CA6694272 | BBS10 | c.860A>G (p.Gln287Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.76347125T>G | CA385813886 | BBS10 | c.860A>C (p.Gln287Pro)
| |
12 | g.76347125T= | CA2047353629 | BBS10 | c.860A= (p.Gln287=)
| |
12 | g.76347126G>A | CA6694273 | BBS10 | c.859C>T (p.Gln287Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.76347126G>C | CA385813888 | BBS10 | c.859C>G (p.Gln287Glu)
| |
12 | g.76347126G= | CA2047353630 | BBS10 | c.859C= (p.Gln287=)
| |
12 | g.76347126G>T | CA385813887 | BBS10 | c.859C>A (p.Gln287Lys)
| gnomAD v4 |
12 | g.76347128_76347129dup | CA16041584 | BBS10 | c.858_859dup (p.Gln287LeufsTer12)
| ClinVar dbSNP gnomAD v2 |
12 | g.76347127A= | CA2047353631 | BBS10 | c.858T= (p.Ser286=)
| |
12 | g.76347127A>C | CA481011413 | BBS10 | c.858T>G (p.Ser286=)
| |
12 | g.76347127A>G | CA481011415 | BBS10 | c.858T>C (p.Ser286=)
| ClinVar dbSNP gnomAD v4 |
12 | g.76347127A>T | CA481011417 | BBS10 | c.858T>A (p.Ser286=)
| |
12 | g.76347128G>A | CA385813889 | BBS10 | c.857C>T (p.Ser286Phe)
| |
12 | g.76347128G>C | CA385813890 | BBS10 | c.857C>G (p.Ser286Cys)
| gnomAD v4 |
12 | g.76347128G>T | CA385813891 | BBS10 | c.857C>A (p.Ser286Tyr)
| gnomAD v4 |
12 | g.76347129A= | CA2047353632 | BBS10 | c.856T= (p.Ser286=)
| |
12 | g.76347129A>C | CA385813892 | BBS10 | c.856T>G (p.Ser286Ala)
| |
12 | g.76347129A>G | CA385813893 | BBS10 | c.856T>C (p.Ser286Pro)
| dbSNP gnomAD v4 |
12 | g.76347129A>T | CA385813894 | BBS10 | c.856T>A (p.Ser286Thr)
| |
12 | g.76347130T>A | CA481011420 | BBS10 | c.855A>T (p.Thr285=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.76347130T>C | CA481011422 | BBS10 | c.855A>G (p.Thr285=)
| |
12 | g.76347130T>G | CA481011423 | BBS10 | c.855A>C (p.Thr285=)
| |
12 | g.76347130T= | CA2047353633 | BBS10 | c.855A= (p.Thr285=)
| |
12 | g.76347131G>A | CA385813895 | BBS10 | c.854C>T (p.Thr285Ile)
| gnomAD v4 |
12 | g.76347131G>C | CA385813896 | BBS10 | c.854C>G (p.Thr285Arg)
| |
12 | g.76347131G>T | CA385813897 | BBS10 | c.854C>A (p.Thr285Lys)
| |
12 | g.76347132T>A | CA385813898 | BBS10 | c.853A>T (p.Thr285Ser)
| |
12 | g.76347132T>C | CA385813899 | BBS10 | c.853A>G (p.Thr285Ala)
| |
12 | g.76347132T>G | CA385813900 | BBS10 | c.853A>C (p.Thr285Pro)
| |
12 | g.76347133C>A | CA385813902 | BBS10 | c.852G>T (p.Gln284His)
| gnomAD v4 |
12 | g.76347133C= | CA2047353634 | BBS10 | c.852G= (p.Gln284=)
| |
12 | g.76347133C>G | CA385813901 | BBS10 | c.852G>C (p.Gln284His)
| COSMIC |
12 | g.76347133C>T | CA481011430 | BBS10 | c.852G>A (p.Gln284=)
| dbSNP |
12 | g.76347134T>A | CA385813903 | BBS10 | c.851A>T (p.Gln284Leu)
| |
12 | g.76347134T>C | CA6694274 | BBS10 | c.851A>G (p.Gln284Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.76347134T>G | CA385813904 | BBS10 | c.851A>C (p.Gln284Pro)
| |
12 | g.76347134T= | CA2047353635 | BBS10 | c.851A= (p.Gln284=)
| |
12 | g.76347135G>A | CA6694275 | BBS10 | c.850C>T (p.Gln284Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76347135G>C | CA385813905 | BBS10 | c.850C>G (p.Gln284Glu)
| |
12 | g.76347135G= | CA2047353636 | BBS10 | c.850C= (p.Gln284=)
| |
12 | g.76347135G>T | CA385813906 | BBS10 | c.850C>A (p.Gln284Lys)
| gnomAD v4 |
12 | g.76347136A>C | CA385813907 | BBS10 | c.849T>G (p.Phe283Leu)
| |
12 | g.76347136A>G | CA481011438 | BBS10 | c.849T>C (p.Phe283=)
| |
12 | g.76347136A>T | CA385813908 | BBS10 | c.849T>A (p.Phe283Leu)
| |
12 | g.76347137A>C | CA385813909 | BBS10 | c.848T>G (p.Phe283Cys)
| |
12 | g.76347137A>G | CA385813910 | BBS10 | c.848T>C (p.Phe283Ser)
| |
12 | g.76347137A>T | CA385813911 | BBS10 | c.848T>A (p.Phe283Tyr)
| |
12 | g.76347138A>C | CA385813912 | BBS10 | c.847T>G (p.Phe283Val)
| |
12 | g.76347138A>G | CA385813913 | BBS10 | c.847T>C (p.Phe283Leu)
| gnomAD v4 |
12 | g.76347138A>T | CA385813914 | BBS10 | c.847T>A (p.Phe283Ile)
| |
12 | g.76347139C>A | CA385813915 | BBS10 | c.846G>T (p.Gln282His)
| |
12 | g.76347139C= | CA2047353637 | BBS10 | c.846G= (p.Gln282=)
| |
12 | g.76347139C>G | CA385813916 | BBS10 | c.846G>C (p.Gln282His)
| |
12 | g.76347139C>T | CA481011445 | BBS10 | c.846G>A (p.Gln282=)
| dbSNP |
12 | g.76347140T>A | CA385813917 | BBS10 | c.845A>T (p.Gln282Leu)
| |
12 | g.76347140T>C | CA385813919 | BBS10 | c.845A>G (p.Gln282Arg)
| |
12 | g.76347140T>G | CA385813918 | BBS10 | c.845A>C (p.Gln282Pro)
| |
12 | g.76347142_76347143del | CA2575230731 | BBS10 | c.844_845del (p.Gln282ValfsTer21)
| ClinVar gnomAD v4 |
12 | g.76347141G>A | CA385813920 | BBS10 | c.844C>T (p.Gln282Ter)
| |
12 | g.76347141G>C | CA385813921 | BBS10 | c.844C>G (p.Gln282Glu)
| |
12 | g.76347141G>T | CA385813922 | BBS10 | c.844C>A (p.Gln282Lys)
| gnomAD v4 |
12 | g.76347142T>A | CA481011449 | BBS10 | c.843A>T (p.Ala281=)
| |
12 | g.76347142T>C | CA481011450 | BBS10 | c.843A>G (p.Ala281=)
| |
12 | g.76347142T>G | CA481011451 | BBS10 | c.843A>C (p.Ala281=)
| ClinVar |
12 | g.76347143G>A | CA385813923 | BBS10 | c.842C>T (p.Ala281Val)
| |
12 | g.76347143G>C | CA385813924 | BBS10 | c.842C>G (p.Ala281Gly)
| |
12 | g.76347143G>T | CA385813925 | BBS10 | c.842C>A (p.Ala281Glu)
| |
12 | g.76347144C>A | CA385813926 | BBS10 | c.841G>T (p.Ala281Ser)
| |
12 | g.76347144C= | CA2047353638 | BBS10 | c.841G= (p.Ala281=)
| |
12 | g.76347144C>G | CA385813927 | BBS10 | c.841G>C (p.Ala281Pro)
| |
12 | g.76347144C>T | CA6694276 | BBS10 | c.841G>A (p.Ala281Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76347145T>A | CA385813928 | BBS10 | c.840A>T (p.Glu280Asp)
| |
12 | g.76347145T>C | CA6694277 | BBS10 | c.840A>G (p.Glu280=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76347145T>G | CA385813929 | BBS10 | c.840A>C (p.Glu280Asp)
| |
12 | g.76347145T= | CA2047353639 | BBS10 | c.840A= (p.Glu280=)
| |
12 | g.76347146T>A | CA385813932 | BBS10 | c.839A>T (p.Glu280Val)
| |
12 | g.76347146T>C | CA385813930 | BBS10 | c.839A>G (p.Glu280Gly)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.76347146T>G | CA385813931 | BBS10 | c.839A>C (p.Glu280Ala)
| |
12 | g.76347146T= | CA2047353640 | BBS10 | c.839A= (p.Glu280=)
| |
12 | g.76347147C>A | CA385813933 | BBS10 | c.838G>T (p.Glu280Ter)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.76347147C= | CA2047353641 | BBS10 | c.838G= (p.Glu280=)
| |
12 | g.76347147C>G | CA385813934 | BBS10 | c.838G>C (p.Glu280Gln)
| |
12 | g.76347147C>T | CA385813935 | BBS10 | c.838G>A (p.Glu280Lys)
| gnomAD v4 |
12 | g.76347148T>A | CA481011456 | BBS10 | c.837A>T (p.Ser279=)
| |
12 | g.76347148T>C | CA481011457 | BBS10 | c.837A>G (p.Ser279=)
| ClinVar dbSNP gnomAD v4 |
12 | g.76347148T>G | CA481011458 | BBS10 | c.837A>C (p.Ser279=)
| |
12 | g.76347149G>A | CA385813936 | BBS10 | c.836C>T (p.Ser279Leu)
| |
12 | g.76347149G>C | CA385813938 | BBS10 | c.836C>G (p.Ser279Ter)
| gnomAD v4 |
12 | g.76347149G>T | CA385813939 | BBS10 | c.836C>A (p.Ser279Ter)
| gnomAD v4 |
12 | g.76347150A>C | CA385813942 | BBS10 | c.835T>G (p.Ser279Ala)
| |
12 | g.76347150A>G | CA385813943 | BBS10 | c.835T>C (p.Ser279Pro)
| |
12 | g.76347150A>T | CA385813944 | BBS10 | c.835T>A (p.Ser279Thr)
| |
12 | g.76347151A>C | CA385813947 | BBS10 | c.834T>G (p.Asn278Lys)
| |
12 | g.76347151A>G | CA481011460 | BBS10 | c.834T>C (p.Asn278=)
| |
12 | g.76347151A>T | CA385813948 | BBS10 | c.834T>A (p.Asn278Lys)
| |
12 | g.76347152T>A | CA385813952 | BBS10 | c.833A>T (p.Asn278Ile)
| dbSNP |
12 | g.76347152T>C | CA385813951 | BBS10 | c.833A>G (p.Asn278Ser)
| |
12 | g.76347152T>G | CA385813949 | BBS10 | c.833A>C (p.Asn278Thr)
| |
12 | g.76347152T= | CA2047353642 | BBS10 | c.833A= (p.Asn278=)
| |
12 | g.76347153T>A | CA385813954 | BBS10 | c.832A>T (p.Asn278Tyr)
| |
12 | g.76347153T>C | CA385813956 | BBS10 | c.832A>G (p.Asn278Asp)
| |
12 | g.76347153T>G | CA385813957 | BBS10 | c.832A>C (p.Asn278His)
| |
12 | g.76347154T>A | CA481011466 | BBS10 | c.831A>T (p.Leu277=)
| |
12 | g.76347154T>C | CA481011465 | BBS10 | c.831A>G (p.Leu277=)
| |
12 | g.76347154T>G | CA481011464 | BBS10 | c.831A>C (p.Leu277=)
| |
12 | g.76347155A= | CA2047353643 | BBS10 | c.830T= (p.Leu277=)
| |
12 | g.76347155A>C | CA385813959 | BBS10 | c.830T>G (p.Leu277Arg)
| |
12 | g.76347155A>G | CA385813961 | BBS10 | c.830T>C (p.Leu277Pro)
| gnomAD v4 |
12 | g.76347155A>T | CA385813963 | BBS10 | c.830T>A (p.Leu277Gln)
| dbSNP |
12 | g.76347156G>A | CA481011467 | BBS10 | c.829C>T (p.Leu277=)
| |
12 | g.76347156G>C | CA385813965 | BBS10 | c.829C>G (p.Leu277Val)
| |
12 | g.76347156G>T | CA385813967 | BBS10 | c.829C>A (p.Leu277Ile)
| gnomAD v4 |
12 | g.76347157A>C | CA385813968 | BBS10 | c.828T>G (p.Ile276Met)
| |
12 | g.76347157A>G | CA481011472 | BBS10 | c.828T>C (p.Ile276=)
| |
12 | g.76347157A>T | CA481011471 | BBS10 | c.828T>A (p.Ile276=)
| |
12 | g.76347158A= | CA2047353644 | BBS10 | c.827T= (p.Ile276=)
| |
12 | g.76347158A>C | CA385813970 | BBS10 | c.827T>G (p.Ile276Ser)
| |
12 | g.76347158A>G | CA6694278 | BBS10 | c.827T>C (p.Ile276Thr)
| dbSNP ExAC gnomAD v2 |
12 | g.76347158A>T | CA385813973 | BBS10 | c.827T>A (p.Ile276Asn)
| |
12 | g.76347159T>A | CA385813977 | BBS10 | c.826A>T (p.Ile276Phe)
| |
12 | g.76347159T>C | CA385813980 | BBS10 | c.826A>G (p.Ile276Val)
| |
12 | g.76347159T>G | CA385813975 | BBS10 | c.826A>C (p.Ile276Leu)
| |
12 | g.76347160A>C | CA385813985 | BBS10 | c.825T>G (p.Phe275Leu)
| |
12 | g.76347160A>G | CA481011474 | BBS10 | c.825T>C (p.Phe275=)
| gnomAD v4 |
12 | g.76347160A>T | CA385813986 | BBS10 | c.825T>A (p.Phe275Leu)
| |
12 | g.76347161A>C | CA385813989 | BBS10 | c.824T>G (p.Phe275Cys)
| |
12 | g.76347161A>G | CA385813990 | BBS10 | c.824T>C (p.Phe275Ser)
| |
12 | g.76347161A>T | CA385813992 | BBS10 | c.824T>A (p.Phe275Tyr)
| |
12 | g.76347162A>C | CA385813996 | BBS10 | c.823T>G (p.Phe275Val)
| |
12 | g.76347162A>G | CA385813994 | BBS10 | c.823T>C (p.Phe275Leu)
| |
12 | g.76347162A>T | CA385813995 | BBS10 | c.823T>A (p.Phe275Ile)
| |
12 | g.76347163C>A | CA385813997 | BBS10 | c.822G>T (p.Glu274Asp)
| |
12 | g.76347163C>G | CA385813999 | BBS10 | c.822G>C (p.Glu274Asp)
| |
12 | g.76347163C>T | CA481011477 | BBS10 | c.822G>A (p.Glu274=)
| |
12 | g.76347165_76347166del | CA2619945596 | BBS10 | c.821_822del (p.Glu274ValfsTer29)
| gnomAD v4 |
12 | g.76347164_76347171dup | CA2695217037 | BBS10 | c.815_822dup (p.Phe275AspfsTer6)
| |
12 | g.76347164T>A | CA385814001 | BBS10 | c.821A>T (p.Glu274Val)
| |
12 | g.76347164T>C | CA385814003 | BBS10 | c.821A>G (p.Glu274Gly)
| |
12 | g.76347164T>G | CA385814005 | BBS10 | c.821A>C (p.Glu274Ala)
| |
12 | g.76347165C>A | CA385814006 | BBS10 | c.820G>T (p.Glu274Ter)
| |
12 | g.76347165C= | CA2047353645 | BBS10 | c.820G= (p.Glu274=)
| |
12 | g.76347165C>G | CA385814009 | BBS10 | c.820G>C (p.Glu274Gln)
| |
12 | g.76347165C>T | CA385814008 | BBS10 | c.820G>A (p.Glu274Lys)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.76347166T>A | CA481011478 | BBS10 | c.819A>T (p.Ser273=)
| |
12 | g.76347166T>C | CA481011479 | BBS10 | c.819A>G (p.Ser273=)
| |
12 | g.76347166T>G | CA481011480 | BBS10 | c.819A>C (p.Ser273=)
| |