12 | g.76346356G>A | CA6694134 | BBS10 | c.1629C>T (p.Asn543=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76346356G>C | CA385810740 | BBS10 | c.1629C>G (p.Asn543Lys)
| |
12 | g.76346356G= | CA2047353270 | BBS10 | c.1629C= (p.Asn543=)
| |
12 | g.76346356G>T | CA385810741 | BBS10 | c.1629C>A (p.Asn543Lys)
| |
12 | g.76346356_76346359delinsGTTC | CA2047353269 | BBS10 | c.1626_1629delinsGAAC (p.Lys542=)
| |
12 | g.76346357T>A | CA385810743 | BBS10 | c.1628A>T (p.Asn543Ile)
| |
12 | g.76346357T>C | CA385810745 | BBS10 | c.1628A>G (p.Asn543Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.76346357T>G | CA385810747 | BBS10 | c.1628A>C (p.Asn543Thr)
| |
12 | g.76346357T= | CA2047353271 | BBS10 | c.1628A= (p.Asn543=)
| |
12 | g.76346359_76346361del | CA691952990 | BBS10 | c.1626_1628del (p.Lys542del)
| dbSNP |
12 | g.76346358T>A | CA385810749 | BBS10 | c.1627A>T (p.Asn543Tyr)
| |
12 | g.76346358T>C | CA385810750 | BBS10 | c.1627A>G (p.Asn543Asp)
| |
12 | g.76346358T>G | CA385810752 | BBS10 | c.1627A>C (p.Asn543His)
| |
12 | g.76346359C>A | CA385810754 | BBS10 | c.1626G>T (p.Lys542Asn)
| gnomAD v4 |
12 | g.76346359C>G | CA385810756 | BBS10 | c.1626G>C (p.Lys542Asn)
| |
12 | g.76346359C>T | CA481010606 | BBS10 | c.1626G>A (p.Lys542=)
| |
12 | g.76346360T>A | CA385810757 | BBS10 | c.1625A>T (p.Lys542Met)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.76346360T>C | CA385810759 | BBS10 | c.1625A>G (p.Lys542Arg)
| |
12 | g.76346360T>G | CA385810761 | BBS10 | c.1625A>C (p.Lys542Thr)
| |
12 | g.76346360T= | CA2047353272 | BBS10 | c.1625A= (p.Lys542=)
| |
12 | g.76346361T>A | CA385810763 | BBS10 | c.1624A>T (p.Lys542Ter)
| |
12 | g.76346361T>C | CA385810764 | BBS10 | c.1624A>G (p.Lys542Glu)
| |
12 | g.76346361T>G | CA385810766 | BBS10 | c.1624A>C (p.Lys542Gln)
| |
12 | g.76346361_76346362insAC | CA2695199112 | BBS10 | c.1623_1624insGT (p.Lys542ValfsTer15)
| ClinVar |
12 | g.76346362G>A | CA481010631 | BBS10 | c.1623C>T (p.Leu541=)
| ClinVar |
12 | g.76346362G>C | CA481010629 | BBS10 | c.1623C>G (p.Leu541=)
| ClinVar dbSNP COSMIC |
12 | g.76346362G>T | CA481010626 | BBS10 | c.1623C>A (p.Leu541=)
| |
12 | g.76346363A= | CA2047353273 | BBS10 | c.1622T= (p.Leu541=)
| |
12 | g.76346363A>C | CA385810770 | BBS10 | c.1622T>G (p.Leu541Arg)
| |
12 | g.76346363A>G | CA6694135 | BBS10 | c.1622T>C (p.Leu541Pro)
| dbSNP ExAC gnomAD v2 |
12 | g.76346363A>T | CA385810769 | BBS10 | c.1622T>A (p.Leu541His)
| |
12 | g.76346364G>A | CA385810772 | BBS10 | c.1621C>T (p.Leu541Phe)
| |
12 | g.76346364G>C | CA385810773 | BBS10 | c.1621C>G (p.Leu541Val)
| |
12 | g.76346364G>T | CA385810774 | BBS10 | c.1621C>A (p.Leu541Ile)
| |
12 | g.76346365T>A | CA385810775 | BBS10 | c.1620A>T (p.Leu540Phe)
| |
12 | g.76346365T>C | CA481010646 | BBS10 | c.1620A>G (p.Leu540=)
| ClinVar dbSNP |
12 | g.76346365T>G | CA385810776 | BBS10 | c.1620A>C (p.Leu540Phe)
| |
12 | g.76346365T= | CA2047353274 | BBS10 | c.1620A= (p.Leu540=)
| |
12 | g.76346366A>C | CA385810778 | BBS10 | c.1619T>G (p.Leu540Ter)
| ClinVar |
12 | g.76346366A>G | CA385810781 | BBS10 | c.1619T>C (p.Leu540Ser)
| |
12 | g.76346366A>T | CA385810780 | BBS10 | c.1619T>A (p.Leu540Ter)
| |
12 | g.76346367A= | CA2047353275 | BBS10 | c.1618T= (p.Leu540=)
| |
12 | g.76346367A>C | CA385810782 | BBS10 | c.1618T>G (p.Leu540Val)
| |
12 | g.76346367A>G | CA481010667 | BBS10 | c.1618T>C (p.Leu540=)
| ClinVar dbSNP |
12 | g.76346367A>T | CA385810783 | BBS10 | c.1618T>A (p.Leu540Ile)
| gnomAD v4 |
12 | g.76346368T>A | CA481010670 | BBS10 | c.1617A>T (p.Pro539=)
| |
12 | g.76346368T>C | CA6694136 | BBS10 | c.1617A>G (p.Pro539=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.76346368T>G | CA481010671 | BBS10 | c.1617A>C (p.Pro539=)
| |
12 | g.76346368T= | CA2047353276 | BBS10 | c.1617A= (p.Pro539=)
| |
12 | g.76346369G>A | CA179768 | BBS10 | c.1616C>T (p.Pro539Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76346369G>C | CA385810784 | BBS10 | c.1616C>G (p.Pro539Arg)
| |
12 | g.76346369G= | CA2047353277 | BBS10 | c.1616C= (p.Pro539=)
| |
12 | g.76346369G>T | CA385810785 | BBS10 | c.1616C>A (p.Pro539Gln)
| |
12 | g.76346370G>A | CA385810786 | BBS10 | c.1615C>T (p.Pro539Ser)
| COSMIC |
12 | g.76346370G>C | CA385810788 | BBS10 | c.1615C>G (p.Pro539Ala)
| |
12 | g.76346370G>T | CA385810789 | BBS10 | c.1615C>A (p.Pro539Thr)
| |
12 | g.76346371T>A | CA385810791 | BBS10 | c.1614A>T (p.Glu538Asp)
| |
12 | g.76346371T>C | CA481010683 | BBS10 | c.1614A>G (p.Glu538=)
| |
12 | g.76346371T>G | CA385810792 | BBS10 | c.1614A>C (p.Glu538Asp)
| |
12 | g.76346372T>A | CA385810794 | BBS10 | c.1613A>T (p.Glu538Val)
| |
12 | g.76346372T>C | CA385810795 | BBS10 | c.1613A>G (p.Glu538Gly)
| |
12 | g.76346372T>G | CA385810793 | BBS10 | c.1613A>C (p.Glu538Ala)
| |
12 | g.76346373C>A | CA385810797 | BBS10 | c.1612G>T (p.Glu538Ter)
| |
12 | g.76346373C>G | CA385810796 | BBS10 | c.1612G>C (p.Glu538Gln)
| |
12 | g.76346373C>T | CA385810799 | BBS10 | c.1612G>A (p.Glu538Lys)
| |
12 | g.76346374A= | CA2047353278 | BBS10 | c.1611T= (p.Tyr537=)
| |
12 | g.76346374A>C | CA385810801 | BBS10 | c.1611T>G (p.Tyr537Ter)
| |
12 | g.76346374A>G | CA6694137 | BBS10 | c.1611T>C (p.Tyr537=)
| dbSNP ExAC gnomAD v2 |
12 | g.76346374A>T | CA385810803 | BBS10 | c.1611T>A (p.Tyr537Ter)
| |
12 | g.76346375T>A | CA385810804 | BBS10 | c.1610A>T (p.Tyr537Phe)
| |
12 | g.76346375T>C | CA385810805 | BBS10 | c.1610A>G (p.Tyr537Cys)
| |
12 | g.76346375T>G | CA385810806 | BBS10 | c.1610A>C (p.Tyr537Ser)
| gnomAD v4 |
12 | g.76346376A>C | CA385810809 | BBS10 | c.1609T>G (p.Tyr537Asp)
| |
12 | g.76346376A>G | CA385810807 | BBS10 | c.1609T>C (p.Tyr537His)
| |
12 | g.76346376A>T | CA385810808 | BBS10 | c.1609T>A (p.Tyr537Asn)
| |
12 | g.76346377A>C | CA385810810 | BBS10 | c.1608T>G (p.Tyr536Ter)
| |
12 | g.76346377A>G | CA481010703 | BBS10 | c.1608T>C (p.Tyr536=)
| COSMIC |
12 | g.76346377A>T | CA385810811 | BBS10 | c.1608T>A (p.Tyr536Ter)
| |
12 | g.76346378T>A | CA385810812 | BBS10 | c.1607A>T (p.Tyr536Phe)
| |
12 | g.76346378T>C | CA6694138 | BBS10 | c.1607A>G (p.Tyr536Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.76346378T>G | CA385810813 | BBS10 | c.1607A>C (p.Tyr536Ser)
| |
12 | g.76346378T= | CA2047353280 | BBS10 | c.1607A= (p.Tyr536=)
| |
12 | g.76346378_76346382delinsTAATC | CA2047353279 | BBS10 | c.1603_1607delinsGATTA (p.Asp535=)
| |
12 | g.76346379A>C | CA385810814 | BBS10 | c.1606T>G (p.Tyr536Asp)
| ClinVar gnomAD v4 |
12 | g.76346379A>G | CA385810816 | BBS10 | c.1606T>C (p.Tyr536His)
| ClinVar dbSNP |
12 | g.76346379A>T | CA385810815 | BBS10 | c.1606T>A (p.Tyr536Asn)
| gnomAD v4 |
12 | g.76346380del | CA2695199113 | BBS10 | c.1606del (p.Tyr536IlefsTer20)
| ClinVar |
12 | g.76346380_76346383del | CA1139662787 | BBS10 | c.1603_1606del (p.Asp535IlefsTer20)
| ClinVar dbSNP |
12 | g.76346380A= | CA2047353281 | BBS10 | c.1605T= (p.Asp535=)
| |
12 | g.76346380A>C | CA385810817 | BBS10 | c.1605T>G (p.Asp535Glu)
| |
12 | g.76346380A>G | CA481010714 | BBS10 | c.1605T>C (p.Asp535=)
| dbSNP |
12 | g.76346380A>T | CA385810818 | BBS10 | c.1605T>A (p.Asp535Glu)
| |
12 | g.76346381T>A | CA385810819 | BBS10 | c.1604A>T (p.Asp535Val)
| ClinVar dbSNP |
12 | g.76346381T>C | CA385810820 | BBS10 | c.1604A>G (p.Asp535Gly)
| |
12 | g.76346381T>G | CA385810821 | BBS10 | c.1604A>C (p.Asp535Ala)
| dbSNP |
12 | g.76346381T= | CA2047353282 | BBS10 | c.1604A= (p.Asp535=)
| |
12 | g.76346382C>A | CA385810822 | BBS10 | c.1603G>T (p.Asp535Tyr)
| |
12 | g.76346382C= | CA2047353283 | BBS10 | c.1603G= (p.Asp535=)
| |
12 | g.76346382C>G | CA385810823 | BBS10 | c.1603G>C (p.Asp535His)
| |
12 | g.76346382C>T | CA6694139 | BBS10 | c.1603G>A (p.Asp535Asn)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.76346382_76346383del | CA2575230726 | BBS10 | c.1602_1603del (p.Asp535LeufsTer3)
| |
12 | g.76346382_76346386delinsCAGTT | CA2047353284 | BBS10 | c.1599_1603delinsAACTG (p.Leu533=)
| |
12 | g.76346383A= | CA2047353285 | BBS10 | c.1602T= (p.Thr534=)
| |
12 | g.76346383A>C | CA6694140 | BBS10 | c.1602T>G (p.Thr534=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.76346383A>G | CA481010730 | BBS10 | c.1602T>C (p.Thr534=)
| dbSNP gnomAD v2 |
12 | g.76346383A>T | CA481010732 | BBS10 | c.1602T>A (p.Thr534=)
| |
12 | g.76346385_76346388del | CA274224 | BBS10 | c.1599_1602del (p.Thr534IlefsTer21)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.76346384G>A | CA385810826 | BBS10 | c.1601C>T (p.Thr534Ile)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.76346384G>C | CA385810825 | BBS10 | c.1601C>G (p.Thr534Ser)
| |
12 | g.76346384G= | CA2047353286 | BBS10 | c.1601C= (p.Thr534=)
| |
12 | g.76346384G>T | CA385810824 | BBS10 | c.1601C>A (p.Thr534Asn)
| |
12 | g.76346385T>A | CA385810827 | BBS10 | c.1600A>T (p.Thr534Ser)
| gnomAD v4 |
12 | g.76346385T>C | CA385810828 | BBS10 | c.1600A>G (p.Thr534Ala)
| |
12 | g.76346385T>G | CA385810829 | BBS10 | c.1600A>C (p.Thr534Pro)
| |
12 | g.76346386T>A | CA481010740 | BBS10 | c.1599A>T (p.Leu533=)
| |
12 | g.76346386T>C | CA481010742 | BBS10 | c.1599A>G (p.Leu533=)
| ClinVar |
12 | g.76346386T>G | CA481010746 | BBS10 | c.1599A>C (p.Leu533=)
| |
12 | g.76346387A= | CA2047353287 | BBS10 | c.1598T= (p.Leu533=)
| |
12 | g.76346387A>C | CA385810830 | BBS10 | c.1598T>G (p.Leu533Arg)
| |
12 | g.76346387A>G | CA385810831 | BBS10 | c.1598T>C (p.Leu533Pro)
| |
12 | g.76346387A>T | CA385810832 | BBS10 | c.1598T>A (p.Leu533Gln)
| dbSNP gnomAD v4 |
12 | g.76346388G>A | CA481010750 | BBS10 | c.1597C>T (p.Leu533=)
| dbSNP |
12 | g.76346388G>C | CA385810833 | BBS10 | c.1597C>G (p.Leu533Val)
| |
12 | g.76346388G= | CA2047353288 | BBS10 | c.1597C= (p.Leu533=)
| |
12 | g.76346388G>T | CA385810834 | BBS10 | c.1597C>A (p.Leu533Ile)
| |
12 | g.76346389C>A | CA385810835 | BBS10 | c.1596G>T (p.Arg532Ser)
| |
12 | g.76346389C= | CA2047353289 | BBS10 | c.1596G= (p.Arg532=)
| |
12 | g.76346389C>G | CA385810836 | BBS10 | c.1596G>C (p.Arg532Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.76346389C>T | CA481010751 | BBS10 | c.1596G>A (p.Arg532=)
| |
12 | g.76346390C>A | CA385810837 | BBS10 | c.1595G>T (p.Arg532Met)
| |
12 | g.76346390C= | CA2047353290 | BBS10 | c.1595G= (p.Arg532=)
| |
12 | g.76346390C>G | CA385810838 | BBS10 | c.1595G>C (p.Arg532Thr)
| |
12 | g.76346390C>T | CA6694141 | BBS10 | c.1595G>A (p.Arg532Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76346391T>A | CA385810840 | BBS10 | c.1594A>T (p.Arg532Trp)
| gnomAD v4 |
12 | g.76346391T>C | CA385810839 | BBS10 | c.1594A>G (p.Arg532Gly)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.76346391T>G | CA481010754 | BBS10 | c.1594A>C (p.Arg532=)
| |
12 | g.76346391T= | CA2047353291 | BBS10 | c.1594A= (p.Arg532=)
| |
12 | g.76346392G>A | CA6694142 | BBS10 | c.1593C>T (p.Asn531=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76346392G>C | CA385810841 | BBS10 | c.1593C>G (p.Asn531Lys)
| gnomAD v4 |
12 | g.76346392G= | CA2047353292 | BBS10 | c.1593C= (p.Asn531=)
| |
12 | g.76346392G>T | CA385810842 | BBS10 | c.1593C>A (p.Asn531Lys)
| |
12 | g.76346393T>A | CA385810843 | BBS10 | c.1592A>T (p.Asn531Ile)
| |
12 | g.76346393T>C | CA385810844 | BBS10 | c.1592A>G (p.Asn531Ser)
| ClinVar dbSNP COSMIC |
12 | g.76346393T>G | CA385810845 | BBS10 | c.1592A>C (p.Asn531Thr)
| |
12 | g.76346394T>A | CA385810846 | BBS10 | c.1591A>T (p.Asn531Tyr)
| |
12 | g.76346394T>C | CA385810847 | BBS10 | c.1591A>G (p.Asn531Asp)
| |
12 | g.76346394T>G | CA385810848 | BBS10 | c.1591A>C (p.Asn531His)
| |
12 | g.76346395T>A | CA385810849 | BBS10 | c.1590A>T (p.Arg530Ser)
| |
12 | g.76346395T>C | CA481010759 | BBS10 | c.1590A>G (p.Arg530=)
| dbSNP |
12 | g.76346395T>G | CA6694143 | BBS10 | c.1590A>C (p.Arg530Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76346395T= | CA2047353293 | BBS10 | c.1590A= (p.Arg530=)
| |
12 | g.76346396C>A | CA385810850 | BBS10 | c.1589G>T (p.Arg530Ile)
| |
12 | g.76346396C= | CA2047353294 | BBS10 | c.1589G= (p.Arg530=)
| |
12 | g.76346396C>G | CA385810851 | BBS10 | c.1589G>C (p.Arg530Thr)
| |
12 | g.76346396C>T | CA385810852 | BBS10 | c.1589G>A (p.Arg530Lys)
| ClinVar dbSNP |
12 | g.76346397T>A | CA385810853 | BBS10 | c.1588A>T (p.Arg530Ter)
| |
12 | g.76346397T>C | CA385810854 | BBS10 | c.1588A>G (p.Arg530Gly)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.76346397T>G | CA481010765 | BBS10 | c.1588A>C (p.Arg530=)
| |
12 | g.76346397T= | CA2047353295 | BBS10 | c.1588A= (p.Arg530=)
| |
12 | g.76346398T>A | CA385810855 | BBS10 | c.1587A>T (p.Glu529Asp)
| |
12 | g.76346398T>C | CA481010768 | BBS10 | c.1587A>G (p.Glu529=)
| gnomAD v4 |
12 | g.76346398T>G | CA385810856 | BBS10 | c.1587A>C (p.Glu529Asp)
| |
12 | g.76346399T>A | CA385810857 | BBS10 | c.1586A>T (p.Glu529Val)
| |
12 | g.76346399T>C | CA385810858 | BBS10 | c.1586A>G (p.Glu529Gly)
| |
12 | g.76346399T>G | CA385810859 | BBS10 | c.1586A>C (p.Glu529Ala)
| |
12 | g.76346400C>A | CA385810860 | BBS10 | c.1585G>T (p.Glu529Ter)
| |
12 | g.76346400C>G | CA385810861 | BBS10 | c.1585G>C (p.Glu529Gln)
| |
12 | g.76346400C>T | CA385810862 | BBS10 | c.1585G>A (p.Glu529Lys)
| |
12 | g.76346401C>A | CA385810863 | BBS10 | c.1584G>T (p.Leu528Phe)
| |
12 | g.76346401C= | CA2047353296 | BBS10 | c.1584G= (p.Leu528=)
| |
12 | g.76346401C>G | CA385810864 | BBS10 | c.1584G>C (p.Leu528Phe)
| |
12 | g.76346401C>T | CA481010777 | BBS10 | c.1584G>A (p.Leu528=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76346402A>C | CA385810865 | BBS10 | c.1583T>G (p.Leu528Trp)
| |
12 | g.76346402A>G | CA385810866 | BBS10 | c.1583T>C (p.Leu528Ser)
| |
12 | g.76346402A>T | CA385810867 | BBS10 | c.1583T>A (p.Leu528Ter)
| |
12 | g.76346403A>C | CA385810868 | BBS10 | c.1582T>G (p.Leu528Val)
| |
12 | g.76346403A>G | CA481010784 | BBS10 | c.1582T>C (p.Leu528=)
| ClinVar gnomAD v4 |
12 | g.76346403A>T | CA385810869 | BBS10 | c.1582T>A (p.Leu528Met)
| |
12 | g.76346404A>C | CA481010786 | BBS10 | c.1581T>G (p.Ser527=)
| |
12 | g.76346404A>G | CA481010787 | BBS10 | c.1581T>C (p.Ser527=)
| |
12 | g.76346404A>T | CA481010788 | BBS10 | c.1581T>A (p.Ser527=)
| |
12 | g.76346405G>A | CA385810872 | BBS10 | c.1580C>T (p.Ser527Phe)
| dbSNP gnomAD v4 |
12 | g.76346405G>C | CA385810870 | BBS10 | c.1580C>G (p.Ser527Cys)
| |
12 | g.76346405G= | CA2047353297 | BBS10 | c.1580C= (p.Ser527=)
| |
12 | g.76346405G>T | CA385810871 | BBS10 | c.1580C>A (p.Ser527Tyr)
| |
12 | g.76346406A= | CA2047353298 | BBS10 | c.1579T= (p.Ser527=)
| |
12 | g.76346406A>C | CA385810873 | BBS10 | c.1579T>G (p.Ser527Ala)
| |
12 | g.76346406A>G | CA6694144 | BBS10 | c.1579T>C (p.Ser527Pro)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76346406A>T | CA385810874 | BBS10 | c.1579T>A (p.Ser527Thr)
| |
12 | g.76346407C>A | CA385810875 | BBS10 | c.1578G>T (p.Leu526Phe)
| |
12 | g.76346407C>G | CA385810876 | BBS10 | c.1578G>C (p.Leu526Phe)
| |
12 | g.76346407C>T | CA481010794 | BBS10 | c.1578G>A (p.Leu526=)
| |
12 | g.76346408A>C | CA385810877 | BBS10 | c.1577T>G (p.Leu526Trp)
| |
12 | g.76346408A>G | CA385810878 | BBS10 | c.1577T>C (p.Leu526Ser)
| |
12 | g.76346408A>T | CA385810879 | BBS10 | c.1577T>A (p.Leu526Ter)
| |
12 | g.76346409A>C | CA385810880 | BBS10 | c.1576T>G (p.Leu526Val)
| |
12 | g.76346409A>G | CA481010796 | BBS10 | c.1576T>C (p.Leu526=)
| |
12 | g.76346409A>T | CA385810881 | BBS10 | c.1576T>A (p.Leu526Met)
| |
12 | g.76346410A= | CA2047353299 | BBS10 | c.1575T= (p.Cys525=)
| |
12 | g.76346410A>C | CA385810882 | BBS10 | c.1575T>G (p.Cys525Trp)
| |
12 | g.76346410A>G | CA481010798 | BBS10 | c.1575T>C (p.Cys525=)
| dbSNP |
12 | g.76346410A>T | CA385810883 | BBS10 | c.1575T>A (p.Cys525Ter)
| COSMIC |
12 | g.76346411C>A | CA385810886 | BBS10 | c.1574G>T (p.Cys525Phe)
| |
12 | g.76346411C>G | CA385810885 | BBS10 | c.1574G>C (p.Cys525Ser)
| |
12 | g.76346411C>T | CA385810884 | BBS10 | c.1574G>A (p.Cys525Tyr)
| |
12 | g.76346412A= | CA2047353300 | BBS10 | c.1573T= (p.Cys525=)
| |
12 | g.76346412A>C | CA385810887 | BBS10 | c.1573T>G (p.Cys525Gly)
| |
12 | g.76346412A>G | CA385810888 | BBS10 | c.1573T>C (p.Cys525Arg)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.76346412A>T | CA385810889 | BBS10 | c.1573T>A (p.Cys525Ser)
| |
12 | g.76346413T>A | CA481010806 | BBS10 | c.1572A>T (p.Thr524=)
| ClinVar gnomAD v4 |
12 | g.76346413T>C | CA481010807 | BBS10 | c.1572A>G (p.Thr524=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76346413T>G | CA481010808 | BBS10 | c.1572A>C (p.Thr524=)
| ClinVar dbSNP |
12 | g.76346413T= | CA2047353301 | BBS10 | c.1572A= (p.Thr524=)
| |
12 | g.76346414G>A | CA385810890 | BBS10 | c.1571C>T (p.Thr524Ile)
| dbSNP |
12 | g.76346414G>C | CA385810891 | BBS10 | c.1571C>G (p.Thr524Arg)
| |
12 | g.76346414G= | CA2047353302 | BBS10 | c.1571C= (p.Thr524=)
| |
12 | g.76346414G>T | CA385810892 | BBS10 | c.1571C>A (p.Thr524Lys)
| |
12 | g.76346415T>A | CA385810895 | BBS10 | c.1570A>T (p.Thr524Ser)
| |
12 | g.76346415T>C | CA385810893 | BBS10 | c.1570A>G (p.Thr524Ala)
| |
12 | g.76346415T>G | CA385810894 | BBS10 | c.1570A>C (p.Thr524Pro)
| |
12 | g.76346416C>A | CA481010817 | BBS10 | c.1569G>T (p.Leu523=)
| |
12 | g.76346416C>G | CA481010819 | BBS10 | c.1569G>C (p.Leu523=)
| |
12 | g.76346416C>T | CA481010818 | BBS10 | c.1569G>A (p.Leu523=)
| |
12 | g.76346416_76346419dup | CA2695217032 | BBS10 | c.1566_1569dup (p.Thr524AlafsTer13)
| |
12 | g.76346417A= | CA2047353303 | BBS10 | c.1568T= (p.Leu523=)
| |
12 | g.76346417A>C | CA385810896 | BBS10 | c.1568T>G (p.Leu523Arg)
| |
12 | g.76346417A>G | CA239331700 | BBS10 | c.1568T>C (p.Leu523Pro)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76346417A>T | CA385810897 | BBS10 | c.1568T>A (p.Leu523Gln)
| |
12 | g.76346418G>A | CA481010822 | BBS10 | c.1567C>T (p.Leu523=)
| COSMIC |
12 | g.76346418G>C | CA385810898 | BBS10 | c.1567C>G (p.Leu523Val)
| |
12 | g.76346418G= | CA2047353304 | BBS10 | c.1567C= (p.Leu523=)
| |
12 | g.76346418G>T | CA10638603 | BBS10 | c.1567C>A (p.Leu523Met)
| ClinVar dbSNP |
12 | g.76346419C>A | CA481010826 | BBS10 | c.1566G>T (p.Thr522=)
| ClinVar dbSNP gnomAD v4 |
12 | g.76346419C= | CA2047353305 | BBS10 | c.1566G= (p.Thr522=)
| |
12 | g.76346419C>G | CA481010828 | BBS10 | c.1566G>C (p.Thr522=)
| gnomAD v4 |
12 | g.76346419C>T | CA481010830 | BBS10 | c.1566G>A (p.Thr522=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.76346420G>A | CA6694145 | BBS10 | c.1565C>T (p.Thr522Met)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76346420G>C | CA385810900 | BBS10 | c.1565C>G (p.Thr522Arg)
| |
12 | g.76346420G= | CA2047353306 | BBS10 | c.1565C= (p.Thr522=)
| |
12 | g.76346420G>T | CA385810899 | BBS10 | c.1565C>A (p.Thr522Lys)
| |
12 | g.76346421T>A | CA385810901 | BBS10 | c.1564A>T (p.Thr522Ser)
| |
12 | g.76346421T>C | CA385810902 | BBS10 | c.1564A>G (p.Thr522Ala)
| |
12 | g.76346421T>G | CA385810903 | BBS10 | c.1564A>C (p.Thr522Pro)
| |
12 | g.76346423_76346432del | CA2580617506 | BBS10 | c.1555_1564del (p.Thr519ArgfsTer2)
| ClinVar |
12 | g.76346422T>A | CA385810904 | BBS10 | c.1563A>T (p.Glu521Asp)
| |
12 | g.76346422T>C | CA481010839 | BBS10 | c.1563A>G (p.Glu521=)
| |
12 | g.76346422T>G | CA6694146 | BBS10 | c.1563A>C (p.Glu521Asp)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76346422T= | CA2047353307 | BBS10 | c.1563A= (p.Glu521=)
| |
12 | g.76346423T>A | CA385810905 | BBS10 | c.1562A>T (p.Glu521Val)
| gnomAD v4 |
12 | g.76346423T>C | CA385810906 | BBS10 | c.1562A>G (p.Glu521Gly)
| |
12 | g.76346423T>G | CA385810907 | BBS10 | c.1562A>C (p.Glu521Ala)
| |
12 | g.76346424C>A | CA385810908 | BBS10 | c.1561G>T (p.Glu521Ter)
| |
12 | g.76346424C>G | CA385810909 | BBS10 | c.1561G>C (p.Glu521Gln)
| |
12 | g.76346424C>T | CA385810910 | BBS10 | c.1561G>A (p.Glu521Lys)
| |
12 | g.76346425A>C | CA481010848 | BBS10 | c.1560T>G (p.Val520=)
| |
12 | g.76346425A>G | CA481010847 | BBS10 | c.1560T>C (p.Val520=)
| gnomAD v4 |
12 | g.76346425A>T | CA481010846 | BBS10 | c.1560T>A (p.Val520=)
| |
12 | g.76346426A= | CA2047353308 | BBS10 | c.1559T= (p.Val520=)
| |
12 | g.76346426A>C | CA6694147 | BBS10 | c.1559T>G (p.Val520Gly)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76346426A>G | CA385810912 | BBS10 | c.1559T>C (p.Val520Ala)
| gnomAD v4 |
12 | g.76346426A>T | CA385810911 | BBS10 | c.1559T>A (p.Val520Asp)
| |
12 | g.76346427C>A | CA385810913 | BBS10 | c.1558G>T (p.Val520Phe)
| |
12 | g.76346427C>G | CA385810915 | BBS10 | c.1558G>C (p.Val520Leu)
| |
12 | g.76346427C>T | CA385810914 | BBS10 | c.1558G>A (p.Val520Ile)
| |
12 | g.76346427_76346431delinsCTGTT | CA2047353309 | BBS10 | c.1554_1558delinsAACAG (p.Gln518=)
| |
12 | g.76346428T>A | CA481010852 | BBS10 | c.1557A>T (p.Thr519=)
| |
12 | g.76346428T>C | CA481010854 | BBS10 | c.1557A>G (p.Thr519=)
| ClinVar dbSNP |
12 | g.76346428T>G | CA481010856 | BBS10 | c.1557A>C (p.Thr519=)
| |
12 | g.76346429_76346430del | CA2573148988 | BBS10 | c.1556_1557del (p.Thr519SerfsTer2)
| ClinVar dbSNP |
12 | g.76346430_76346433del | CA2047353310 | BBS10 | c.1554_1557del (p.Thr519LeufsTer4)
| ClinVar dbSNP |
12 | g.76346429G>A | CA385810916 | BBS10 | c.1556C>T (p.Thr519Ile)
| |
12 | g.76346429G>C | CA385810918 | BBS10 | c.1556C>G (p.Thr519Arg)
| gnomAD v4 |
12 | g.76346429G>T | CA385810917 | BBS10 | c.1556C>A (p.Thr519Lys)
| |
12 | g.76346430T>A | CA385810919 | BBS10 | c.1555A>T (p.Thr519Ser)
| |
12 | g.76346430T>C | CA385810920 | BBS10 | c.1555A>G (p.Thr519Ala)
| |
12 | g.76346430T>G | CA385810921 | BBS10 | c.1555A>C (p.Thr519Pro)
| |
12 | g.76346431T>A | CA385810922 | BBS10 | c.1554A>T (p.Gln518His)
| |
12 | g.76346431T>C | CA6694148 | BBS10 | c.1554A>G (p.Gln518=)
| dbSNP ExAC gnomAD v2 |
12 | g.76346431T>G | CA385810923 | BBS10 | c.1554A>C (p.Gln518His)
| |
12 | g.76346431T= | CA2047353311 | BBS10 | c.1554A= (p.Gln518=)
| |
12 | g.76346432T>A | CA385810925 | BBS10 | c.1553A>T (p.Gln518Leu)
| |
12 | g.76346432T>C | CA6694149 | BBS10 | c.1553A>G (p.Gln518Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.76346432T>G | CA385810924 | BBS10 | c.1553A>C (p.Gln518Pro)
| |
12 | g.76346432T= | CA2047353312 | BBS10 | c.1553A= (p.Gln518=)
| |
12 | g.76346433G>A | CA385810926 | BBS10 | c.1552C>T (p.Gln518Ter)
| ClinVar dbSNP |
12 | g.76346433G>C | CA385810927 | BBS10 | c.1552C>G (p.Gln518Glu)
| |
12 | g.76346433G= | CA2047353313 | BBS10 | c.1552C= (p.Gln518=)
| |
12 | g.76346433G>T | CA385810928 | BBS10 | c.1552C>A (p.Gln518Lys)
| |
12 | g.76346434G>A | CA481010864 | BBS10 | c.1551C>T (p.Phe517=)
| gnomAD v4 |
12 | g.76346434G>C | CA385810929 | BBS10 | c.1551C>G (p.Phe517Leu)
| gnomAD v4 |
12 | g.76346434G>T | CA385810930 | BBS10 | c.1551C>A (p.Phe517Leu)
| |
12 | g.76346435A>C | CA385810931 | BBS10 | c.1550T>G (p.Phe517Cys)
| |
12 | g.76346435A>G | CA385810933 | BBS10 | c.1550T>C (p.Phe517Ser)
| gnomAD v4 |
12 | g.76346435A>T | CA385810932 | BBS10 | c.1550T>A (p.Phe517Tyr)
| |
12 | g.76346436A>C | CA385810934 | BBS10 | c.1549T>G (p.Phe517Val)
| |
12 | g.76346436A>G | CA385810935 | BBS10 | c.1549T>C (p.Phe517Leu)
| |
12 | g.76346436A>T | CA385810936 | BBS10 | c.1549T>A (p.Phe517Ile)
| |
12 | g.76346437T>A | CA6694150 | BBS10 | c.1548A>T (p.Thr516=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76346437T>C | CA481010869 | BBS10 | c.1548A>G (p.Thr516=)
| |
12 | g.76346437T>G | CA481010871 | BBS10 | c.1548A>C (p.Thr516=)
| ClinVar gnomAD v4 |
12 | g.76346437T= | CA2047353314 | BBS10 | c.1548A= (p.Thr516=)
| |
12 | g.76346437_76346438delinsTG | CA2047353315 | BBS10 | c.1547_1548delinsCA (p.Thr516=)
| |
12 | g.76346438del | CA356962 | BBS10 | c.1547del (p.Thr516AsnfsTer8)
| ClinVar dbSNP |
12 | g.76346438G>A | CA385810937 | BBS10 | c.1547C>T (p.Thr516Ile)
| |
12 | g.76346438G>C | CA385810938 | BBS10 | c.1547C>G (p.Thr516Arg)
| dbSNP |
12 | g.76346438G>T | CA385810939 | BBS10 | c.1547C>A (p.Thr516Lys)
| gnomAD v4 |
12 | g.76346439T>A | CA385810940 | BBS10 | c.1546A>T (p.Thr516Ser)
| |
12 | g.76346439T>C | CA385810941 | BBS10 | c.1546A>G (p.Thr516Ala)
| |
12 | g.76346439T>G | CA385810942 | BBS10 | c.1546A>C (p.Thr516Pro)
| |
12 | g.76346440_76346443dup | CA2619945600 | BBS10 | c.1543_1546dup (p.Thr516ArgfsTer7)
| gnomAD v4 |
12 | g.76346440A= | CA2047353316 | BBS10 | c.1545T= (p.Asp515=)
| |
12 | g.76346440A>C | CA385810944 | BBS10 | c.1545T>G (p.Asp515Glu)
| |
12 | g.76346440A>G | CA6694151 | BBS10 | c.1545T>C (p.Asp515=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76346440A>T | CA385810943 | BBS10 | c.1545T>A (p.Asp515Glu)
| |
12 | g.76346441T>A | CA385810945 | BBS10 | c.1544A>T (p.Asp515Val)
| |
12 | g.76346441T>C | CA385810946 | BBS10 | c.1544A>G (p.Asp515Gly)
| gnomAD v4 |
12 | g.76346441T>G | CA385810947 | BBS10 | c.1544A>C (p.Asp515Ala)
| |
12 | g.76346442C>A | CA385810948 | BBS10 | c.1543G>T (p.Asp515Tyr)
| |
12 | g.76346442C>G | CA385810949 | BBS10 | c.1543G>C (p.Asp515His)
| gnomAD v4 |
12 | g.76346442C>T | CA385810950 | BBS10 | c.1543G>A (p.Asp515Asn)
| |
12 | g.76346442_76346443delinsCT | CA2047353317 | BBS10 | c.1542_1543delinsAG (p.Thr514=)
| |
12 | g.76346443del | CA16041579 | BBS10 | c.1542del (p.Asp515IlefsTer9)
| ClinVar dbSNP |
12 | g.76346443T>A | CA481010881 | BBS10 | c.1542A>T (p.Thr514=)
| |
12 | g.76346443T>C | CA481010882 | BBS10 | c.1542A>G (p.Thr514=)
| |
12 | g.76346443T>G | CA481010883 | BBS10 | c.1542A>C (p.Thr514=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.76346443T= | CA2047353318 | BBS10 | c.1542A= (p.Thr514=)
| |
12 | g.76346444G>A | CA6694152 | BBS10 | c.1541C>T (p.Thr514Ile)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.76346444G>C | CA385810951 | BBS10 | c.1541C>G (p.Thr514Arg)
| |
12 | g.76346444G= | CA2047353319 | BBS10 | c.1541C= (p.Thr514=)
| |
12 | g.76346444G>T | CA385810952 | BBS10 | c.1541C>A (p.Thr514Lys)
| |
12 | g.76346445T>A | CA385810953 | BBS10 | c.1540A>T (p.Thr514Ser)
| |
12 | g.76346445T>C | CA6694153 | BBS10 | c.1540A>G (p.Thr514Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.76346445T>G | CA385810954 | BBS10 | c.1540A>C (p.Thr514Pro)
| |
12 | g.76346445T= | CA2047353320 | BBS10 | c.1540A= (p.Thr514=)
| |
12 | g.76346446dup | CA912974183 | BBS10 | c.1540dup (p.Thr514AsnfsTer8)
| |
12 | g.76346446T>A | CA481010888 | BBS10 | c.1539A>T (p.Pro513=)
| |
12 | g.76346446T>C | CA481010889 | BBS10 | c.1539A>G (p.Pro513=)
| gnomAD v4 |
12 | g.76346446T>G | CA481010891 | BBS10 | c.1539A>C (p.Pro513=)
| |
12 | g.76346446T= | CA2047353321 | BBS10 | c.1539A= (p.Pro513=)
| |
12 | g.76346447G>A | CA385810955 | BBS10 | c.1538C>T (p.Pro513Leu)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.76346447G>C | CA385810957 | BBS10 | c.1538C>G (p.Pro513Arg)
| |
12 | g.76346447G= | CA2047353322 | BBS10 | c.1538C= (p.Pro513=)
| |
12 | g.76346447G>T | CA385810956 | BBS10 | c.1538C>A (p.Pro513Gln)
| |
12 | g.76346448dup | CA658823423 | BBS10 | c.1538dup (p.Thr514AsnfsTer8)
| ClinVar dbSNP gnomAD v4 |
12 | g.76346448G>A | CA6694154 | BBS10 | c.1537C>T (p.Pro513Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.76346448G>C | CA385810958 | BBS10 | c.1537C>G (p.Pro513Ala)
| |
12 | g.76346448G= | CA2047353323 | BBS10 | c.1537C= (p.Pro513=)
| |
12 | g.76346448G>T | CA385810959 | BBS10 | c.1537C>A (p.Pro513Thr)
| gnomAD v4 |
12 | g.76346449T>A | CA481010902 | BBS10 | c.1536A>T (p.Thr512=)
| |
12 | g.76346449T>C | CA481010904 | BBS10 | c.1536A>G (p.Thr512=)
| COSMIC |
12 | g.76346449T>G | CA481010906 | BBS10 | c.1536A>C (p.Thr512=)
| |
12 | g.76346450G>A | CA385810960 | BBS10 | c.1535C>T (p.Thr512Ile)
| ClinVar gnomAD v4 |
12 | g.76346450G>C | CA385810961 | BBS10 | c.1535C>G (p.Thr512Arg)
| |
12 | g.76346450G>T | CA385810962 | BBS10 | c.1535C>A (p.Thr512Lys)
| |
12 | g.76346451T>A | CA385810963 | BBS10 | c.1534A>T (p.Thr512Ser)
| |
12 | g.76346451T>C | CA385810964 | BBS10 | c.1534A>G (p.Thr512Ala)
| |
12 | g.76346451T>G | CA385810965 | BBS10 | c.1534A>C (p.Thr512Pro)
| |
12 | g.76346451_76346452delinsTC | CA2047353324 | BBS10 | c.1533_1534delinsGA (p.Leu511=)
| |
12 | g.76346452del | CA6694155 | BBS10 | c.1533del (p.Thr512HisfsTer12)
| ClinVar dbSNP ExAC gnomAD v2 |
12 | g.76346452C>A | CA481010918 | BBS10 | c.1533G>T (p.Leu511=)
| |
12 | g.76346452C>G | CA481010917 | BBS10 | c.1533G>C (p.Leu511=)
| |
12 | g.76346452C>T | CA481010916 | BBS10 | c.1533G>A (p.Leu511=)
| |
12 | g.76346453del | CA385810966 | BBS10 | c.1532del (p.Leu511ArgfsTer13)
| |
12 | g.76346453A>C | CA385810968 | BBS10 | c.1532T>G (p.Leu511Arg)
| |
12 | g.76346453A>G | CA385810969 | BBS10 | c.1532T>C (p.Leu511Pro)
| |
12 | g.76346453A>T | CA385810967 | BBS10 | c.1532T>A (p.Leu511Gln)
| |
12 | g.76346453dup | CA2697551497 | BBS10 | c.1532dup (p.Thr512AspfsTer10)
| ClinVar |
12 | g.76346454G>A | CA481010924 | BBS10 | c.1531C>T (p.Leu511=)
| ClinVar dbSNP gnomAD v4 |
12 | g.76346454G>C | CA385810970 | BBS10 | c.1531C>G (p.Leu511Val)
| gnomAD v4 |
12 | g.76346454G>T | CA385810971 | BBS10 | c.1531C>A (p.Leu511Met)
| |
12 | g.76346455T>A | CA481010929 | BBS10 | c.1530A>T (p.Thr510=)
| |
12 | g.76346455T>C | CA481010928 | BBS10 | c.1530A>G (p.Thr510=)
| ClinVar dbSNP |
12 | g.76346455T>G | CA481010927 | BBS10 | c.1530A>C (p.Thr510=)
| |
12 | g.76346455T= | CA2047353325 | BBS10 | c.1530A= (p.Thr510=)
| |
12 | g.76346456G>A | CA385810972 | BBS10 | c.1529C>T (p.Thr510Ile)
| |
12 | g.76346456G>C | CA385810973 | BBS10 | c.1529C>G (p.Thr510Arg)
| |
12 | g.76346456G>T | CA385810974 | BBS10 | c.1529C>A (p.Thr510Lys)
| |