12 | g.76345926G>A | CA239331446 | BBS10 | c.2059C>T (p.Leu687=)
| ClinVar dbSNP gnomAD v4 |
12 | g.76345926G>C | CA385808395 | BBS10 | c.2059C>G (p.Leu687Val)
| |
12 | g.76345926G= | CA2047353087 | BBS10 | c.2059C= (p.Leu687=)
| |
12 | g.76345926G>T | CA385808396 | BBS10 | c.2059C>A (p.Leu687Ile)
| |
12 | g.76345927C>A | CA385808399 | BBS10 | c.2058G>T (p.Gln686His)
| |
12 | g.76345927C>G | CA385808398 | BBS10 | c.2058G>C (p.Gln686His)
| |
12 | g.76345927C>T | CA481010752 | BBS10 | c.2058G>A (p.Gln686=)
| |
12 | g.76345928T>A | CA385808400 | BBS10 | c.2057A>T (p.Gln686Leu)
| |
12 | g.76345928T>C | CA385808401 | BBS10 | c.2057A>G (p.Gln686Arg)
| ClinVar |
12 | g.76345928T>G | CA385808402 | BBS10 | c.2057A>C (p.Gln686Pro)
| |
12 | g.76345929G>A | CA385808403 | BBS10 | c.2056C>T (p.Gln686Ter)
| |
12 | g.76345929G>C | CA385808404 | BBS10 | c.2056C>G (p.Gln686Glu)
| |
12 | g.76345929G>T | CA385808405 | BBS10 | c.2056C>A (p.Gln686Lys)
| |
12 | g.76345930G>A | CA6694054 | BBS10 | c.2055C>T (p.Tyr685=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.76345930G>C | CA385808407 | BBS10 | c.2055C>G (p.Tyr685Ter)
| |
12 | g.76345930G= | CA2047353088 | BBS10 | c.2055C= (p.Tyr685=)
| |
12 | g.76345930G>T | CA385808406 | BBS10 | c.2055C>A (p.Tyr685Ter)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.76345931T>A | CA385808408 | BBS10 | c.2054A>T (p.Tyr685Phe)
| |
12 | g.76345931T>C | CA385808409 | BBS10 | c.2054A>G (p.Tyr685Cys)
| gnomAD v4 |
12 | g.76345931T>G | CA385808410 | BBS10 | c.2054A>C (p.Tyr685Ser)
| |
12 | g.76345932A>C | CA385808411 | BBS10 | c.2053T>G (p.Tyr685Asp)
| |
12 | g.76345932A>G | CA385808412 | BBS10 | c.2053T>C (p.Tyr685His)
| |
12 | g.76345932A>T | CA385808413 | BBS10 | c.2053T>A (p.Tyr685Asn)
| |
12 | g.76345932_76345933delinsAT | CA2047353089 | BBS10 | c.2052_2053delinsAT (p.Lys684=)
| |
12 | g.76345933T>A | CA385808414 | BBS10 | c.2052A>T (p.Lys684Asn)
| |
12 | g.76345933T>C | CA481010769 | BBS10 | c.2052A>G (p.Lys684=)
| |
12 | g.76345933T>G | CA385808415 | BBS10 | c.2052A>C (p.Lys684Asn)
| |
12 | g.76345935del | CA1139662786 | BBS10 | c.2052del (p.Lys684AsnfsTer5)
| ClinVar dbSNP gnomAD v4 |
12 | g.76345934T>A | CA385808416 | BBS10 | c.2051A>T (p.Lys684Ile)
| |
12 | g.76345934T>C | CA385808417 | BBS10 | c.2051A>G (p.Lys684Arg)
| |
12 | g.76345934T>G | CA385808418 | BBS10 | c.2051A>C (p.Lys684Thr)
| gnomAD v4 |
12 | g.76345935T>A | CA385808419 | BBS10 | c.2050A>T (p.Lys684Ter)
| |
12 | g.76345935T>C | CA385808421 | BBS10 | c.2050A>G (p.Lys684Glu)
| |
12 | g.76345935T>G | CA385808420 | BBS10 | c.2050A>C (p.Lys684Gln)
| |
12 | g.76345936A>C | CA481010780 | BBS10 | c.2049T>G (p.Gly683=)
| |
12 | g.76345936A>G | CA481010782 | BBS10 | c.2049T>C (p.Gly683=)
| |
12 | g.76345936A>T | CA481010783 | BBS10 | c.2049T>A (p.Gly683=)
| ClinVar |
12 | g.76345937C>A | CA385808422 | BBS10 | c.2048G>T (p.Gly683Val)
| |
12 | g.76345937C= | CA2047353090 | BBS10 | c.2048G= (p.Gly683=)
| |
12 | g.76345937C>G | CA385808423 | BBS10 | c.2048G>C (p.Gly683Ala)
| |
12 | g.76345937C>T | CA6694055 | BBS10 | c.2048G>A (p.Gly683Asp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.76345938C>A | CA385808424 | BBS10 | c.2047G>T (p.Gly683Cys)
| gnomAD v4 |
12 | g.76345938C>G | CA385808425 | BBS10 | c.2047G>C (p.Gly683Arg)
| |
12 | g.76345938C>T | CA385808426 | BBS10 | c.2047G>A (p.Gly683Ser)
| |
12 | g.76345939C>A | CA385808427 | BBS10 | c.2046G>T (p.Met682Ile)
| gnomAD v4 |
12 | g.76345939C>G | CA385808428 | BBS10 | c.2046G>C (p.Met682Ile)
| |
12 | g.76345939C>T | CA385808429 | BBS10 | c.2046G>A (p.Met682Ile)
| gnomAD v4 |
12 | g.76345940A>C | CA385808430 | BBS10 | c.2045T>G (p.Met682Arg)
| |
12 | g.76345940A>G | CA385808431 | BBS10 | c.2045T>C (p.Met682Thr)
| |
12 | g.76345940A>T | CA385808432 | BBS10 | c.2045T>A (p.Met682Lys)
| |
12 | g.76345941T>A | CA385808435 | BBS10 | c.2044A>T (p.Met682Leu)
| |
12 | g.76345941T>C | CA385808433 | BBS10 | c.2044A>G (p.Met682Val)
| gnomAD v4 |
12 | g.76345941T>G | CA385808434 | BBS10 | c.2044A>C (p.Met682Leu)
| gnomAD v4 |
12 | g.76345942dup | CA2573148985 | BBS10 | c.2044dup (p.Met682AsnfsTer3)
| ClinVar dbSNP |
12 | g.76345942T>A | CA481010799 | BBS10 | c.2043A>T (p.Val681=)
| |
12 | g.76345942T>C | CA481010800 | BBS10 | c.2043A>G (p.Val681=)
| |
12 | g.76345942T>G | CA481010802 | BBS10 | c.2043A>C (p.Val681=)
| |
12 | g.76345943A>C | CA385808436 | BBS10 | c.2042T>G (p.Val681Gly)
| |
12 | g.76345943A>G | CA385808437 | BBS10 | c.2042T>C (p.Val681Ala)
| |
12 | g.76345943A>T | CA385808438 | BBS10 | c.2042T>A (p.Val681Glu)
| |
12 | g.76345944C>A | CA385808439 | BBS10 | c.2041G>T (p.Val681Leu)
| |
12 | g.76345944C>G | CA385808440 | BBS10 | c.2041G>C (p.Val681Leu)
| |
12 | g.76345944C>T | CA385808441 | BBS10 | c.2041G>A (p.Val681Ile)
| gnomAD v4 |
12 | g.76345945T>A | CA481010809 | BBS10 | c.2040A>T (p.Ser680=)
| |
12 | g.76345945T>C | CA481010811 | BBS10 | c.2040A>G (p.Ser680=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.76345945T>G | CA481010815 | BBS10 | c.2040A>C (p.Ser680=)
| |
12 | g.76345945T= | CA2047353091 | BBS10 | c.2040A= (p.Ser680=)
| |
12 | g.76345946G>A | CA385808442 | BBS10 | c.2039C>T (p.Ser680Leu)
| ClinVar |
12 | g.76345946G>C | CA385808443 | BBS10 | c.2039C>G (p.Ser680Ter)
| |
12 | g.76345946G>T | CA385808444 | BBS10 | c.2039C>A (p.Ser680Ter)
| |
12 | g.76345947A>C | CA385808445 | BBS10 | c.2038T>G (p.Ser680Ala)
| |
12 | g.76345947A>G | CA385808446 | BBS10 | c.2038T>C (p.Ser680Pro)
| |
12 | g.76345947A>T | CA385808447 | BBS10 | c.2038T>A (p.Ser680Thr)
| |
12 | g.76345948T>A | CA385808448 | BBS10 | c.2037A>T (p.Glu679Asp)
| |
12 | g.76345948T>C | CA481010827 | BBS10 | c.2037A>G (p.Glu679=)
| |
12 | g.76345948T>G | CA385808449 | BBS10 | c.2037A>C (p.Glu679Asp)
| |
12 | g.76345949T>A | CA385808450 | BBS10 | c.2036A>T (p.Glu679Val)
| |
12 | g.76345949T>C | CA385808452 | BBS10 | c.2036A>G (p.Glu679Gly)
| |
12 | g.76345949T>G | CA385808451 | BBS10 | c.2036A>C (p.Glu679Ala)
| |
12 | g.76345950C>A | CA385808453 | BBS10 | c.2035G>T (p.Glu679Ter)
| |
12 | g.76345950C>G | CA385808455 | BBS10 | c.2035G>C (p.Glu679Gln)
| |
12 | g.76345950C>T | CA385808454 | BBS10 | c.2035G>A (p.Glu679Lys)
| |
12 | g.76345951C>A | CA385808456 | BBS10 | c.2034G>T (p.Leu678Phe)
| |
12 | g.76345951C= | CA2047353092 | BBS10 | c.2034G= (p.Leu678=)
| |
12 | g.76345951C>G | CA385808457 | BBS10 | c.2034G>C (p.Leu678Phe)
| |
12 | g.76345951C>T | CA481010836 | BBS10 | c.2034G>A (p.Leu678=)
| dbSNP |
12 | g.76345952A= | CA2047353093 | BBS10 | c.2033T= (p.Leu678=)
| |
12 | g.76345952A>C | CA239331456 | BBS10 | c.2033T>G (p.Leu678Trp)
| dbSNP |
12 | g.76345952A>G | CA385808458 | BBS10 | c.2033T>C (p.Leu678Ser)
| |
12 | g.76345952A>T | CA385808459 | BBS10 | c.2033T>A (p.Leu678Ter)
| |
12 | g.76345953A>C | CA385808460 | BBS10 | c.2032T>G (p.Leu678Val)
| |
12 | g.76345953A>G | CA481010838 | BBS10 | c.2032T>C (p.Leu678=)
| gnomAD v4 |
12 | g.76345953A>T | CA385808461 | BBS10 | c.2032T>A (p.Leu678Met)
| gnomAD v4 |
12 | g.76345954A= | CA2047353095 | BBS10 | c.2031T= (p.Gly677=)
| |
12 | g.76345954A>C | CA6694056 | BBS10 | c.2031T>G (p.Gly677=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.76345954A>G | CA481010840 | BBS10 | c.2031T>C (p.Gly677=)
| |
12 | g.76345954A>T | CA481010841 | BBS10 | c.2031T>A (p.Gly677=)
| |
12 | g.76345954_76345955delinsAC | CA2047353094 | BBS10 | c.2030_2031delinsGT (p.Gly677=)
| |
12 | g.76345955C>A | CA385808462 | BBS10 | c.2030G>T (p.Gly677Val)
| ClinVar dbSNP |
12 | g.76345955C= | CA2047353096 | BBS10 | c.2030G= (p.Gly677=)
| |
12 | g.76345955C>G | CA385808463 | BBS10 | c.2030G>C (p.Gly677Ala)
| |
12 | g.76345955C>T | CA385808464 | BBS10 | c.2030G>A (p.Gly677Asp)
| |
12 | g.76345956del | CA16619588 | BBS10 | c.2030del (p.Gly677ValfsTer5)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76345956C>A | CA385808467 | BBS10 | c.2029G>T (p.Gly677Cys)
| gnomAD v4 |
12 | g.76345956C>G | CA385808466 | BBS10 | c.2029G>C (p.Gly677Arg)
| |
12 | g.76345956C>T | CA385808465 | BBS10 | c.2029G>A (p.Gly677Ser)
| gnomAD v4 |
12 | g.76345957T>A | CA481010851 | BBS10 | c.2028A>T (p.Thr676=)
| |
12 | g.76345957T>C | CA481010853 | BBS10 | c.2028A>G (p.Thr676=)
| |
12 | g.76345957T>G | CA481010855 | BBS10 | c.2028A>C (p.Thr676=)
| |
12 | g.76345958G>A | CA385808469 | BBS10 | c.2027C>T (p.Thr676Ile)
| |
12 | g.76345958G>C | CA385808471 | BBS10 | c.2027C>G (p.Thr676Arg)
| |
12 | g.76345958G>T | CA385808473 | BBS10 | c.2027C>A (p.Thr676Lys)
| |
12 | g.76345959T>A | CA385808475 | BBS10 | c.2026A>T (p.Thr676Ser)
| |
12 | g.76345959T>C | CA385808477 | BBS10 | c.2026A>G (p.Thr676Ala)
| |
12 | g.76345959T>G | CA385808479 | BBS10 | c.2026A>C (p.Thr676Pro)
| |
12 | g.76345959_76345963delinsTCTGA | CA2047353097 | BBS10 | c.2022_2026delinsTCAGA (p.Ser674=)
| |
12 | g.76345960C>A | CA385808480 | BBS10 | c.2025G>T (p.Gln675His)
| |
12 | g.76345960C>G | CA385808481 | BBS10 | c.2025G>C (p.Gln675His)
| |
12 | g.76345960C>T | CA481010859 | BBS10 | c.2025G>A (p.Gln675=)
| gnomAD v4 |
12 | g.76345963_76345966del | CA606185888 | BBS10 | c.2022_2025del (p.Ser674ArgfsTer7)
| dbSNP gnomAD v2 |
12 | g.76345961T>A | CA385808483 | BBS10 | c.2024A>T (p.Gln675Leu)
| |
12 | g.76345961T>C | CA385808485 | BBS10 | c.2024A>G (p.Gln675Arg)
| |
12 | g.76345961T>G | CA385808486 | BBS10 | c.2024A>C (p.Gln675Pro)
| |
12 | g.76345961dup | CA2695199107 | BBS10 | c.2024dup (p.Thr676AspfsTer9)
| ClinVar |
12 | g.76345962G>A | CA385808491 | BBS10 | c.2023C>T (p.Gln675Ter)
| |
12 | g.76345962G>C | CA385808490 | BBS10 | c.2023C>G (p.Gln675Glu)
| |
12 | g.76345962G>T | CA385808489 | BBS10 | c.2023C>A (p.Gln675Lys)
| gnomAD v4 |
12 | g.76345963A>C | CA385808492 | BBS10 | c.2022T>G (p.Ser674Arg)
| |
12 | g.76345963A>G | CA481010867 | BBS10 | c.2022T>C (p.Ser674=)
| |
12 | g.76345963A>T | CA385808493 | BBS10 | c.2022T>A (p.Ser674Arg)
| |
12 | g.76345964C>A | CA385808494 | BBS10 | c.2021G>T (p.Ser674Ile)
| |
12 | g.76345964C= | CA2047353098 | BBS10 | c.2021G= (p.Ser674=)
| |
12 | g.76345964C>G | CA385808496 | BBS10 | c.2021G>C (p.Ser674Thr)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.76345964C>T | CA385808497 | BBS10 | c.2021G>A (p.Ser674Asn)
| |
12 | g.76345965T>A | CA385808500 | BBS10 | c.2020A>T (p.Ser674Cys)
| |
12 | g.76345965T>C | CA385808502 | BBS10 | c.2020A>G (p.Ser674Gly)
| |
12 | g.76345965T>G | CA385808507 | BBS10 | c.2020A>C (p.Ser674Arg)
| |
12 | g.76345966G>A | CA481010873 | BBS10 | c.2019C>T (p.Ser673=)
| |
12 | g.76345966G>C | CA385808509 | BBS10 | c.2019C>G (p.Ser673Arg)
| |
12 | g.76345966G>T | CA385808510 | BBS10 | c.2019C>A (p.Ser673Arg)
| |
12 | g.76345967C>A | CA385808512 | BBS10 | c.2018G>T (p.Ser673Ile)
| |
12 | g.76345967C>G | CA385808514 | BBS10 | c.2018G>C (p.Ser673Thr)
| |
12 | g.76345967C>T | CA385808516 | BBS10 | c.2018G>A (p.Ser673Asn)
| |
12 | g.76345968T>A | CA385808518 | BBS10 | c.2017A>T (p.Ser673Cys)
| |
12 | g.76345968T>C | CA385808522 | BBS10 | c.2017A>G (p.Ser673Gly)
| |
12 | g.76345968T>G | CA385808520 | BBS10 | c.2017A>C (p.Ser673Arg)
| |
12 | g.76345969T>A | CA481010877 | BBS10 | c.2016A>T (p.Val672=)
| |
12 | g.76345969T>C | CA481010878 | BBS10 | c.2016A>G (p.Val672=)
| gnomAD v4 |
12 | g.76345969T>G | CA481010879 | BBS10 | c.2016A>C (p.Val672=)
| |
12 | g.76345970A>C | CA385808524 | BBS10 | c.2015T>G (p.Val672Gly)
| |
12 | g.76345970A>G | CA385808526 | BBS10 | c.2015T>C (p.Val672Ala)
| |
12 | g.76345970A>T | CA385808528 | BBS10 | c.2015T>A (p.Val672Glu)
| |
12 | g.76345971C>A | CA385808532 | BBS10 | c.2014G>T (p.Val672Leu)
| |
12 | g.76345971C= | CA2047353099 | BBS10 | c.2014G= (p.Val672=)
| |
12 | g.76345971C>G | CA385808533 | BBS10 | c.2014G>C (p.Val672Leu)
| |
12 | g.76345971C>T | CA385808535 | BBS10 | c.2014G>A (p.Val672Ile)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.76345972C>A | CA385808537 | BBS10 | c.2013G>T (p.Leu671Phe)
| |
12 | g.76345972C>G | CA385808539 | BBS10 | c.2013G>C (p.Leu671Phe)
| |
12 | g.76345972C>T | CA481010887 | BBS10 | c.2013G>A (p.Leu671=)
| |
12 | g.76345973A= | CA2047353100 | BBS10 | c.2012T= (p.Leu671=)
| |
12 | g.76345973A>C | CA385808542 | BBS10 | c.2012T>G (p.Leu671Trp)
| gnomAD v4 |
12 | g.76345973A>G | CA6694057 | BBS10 | c.2012T>C (p.Leu671Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.76345973A>T | CA385808545 | BBS10 | c.2012T>A (p.Leu671Ter)
| |
12 | g.76345974A>C | CA385808548 | BBS10 | c.2011T>G (p.Leu671Val)
| |
12 | g.76345974A>G | CA481010900 | BBS10 | c.2011T>C (p.Leu671=)
| |
12 | g.76345974A>T | CA385808547 | BBS10 | c.2011T>A (p.Leu671Met)
| |
12 | g.76345975G>A | CA481010903 | BBS10 | c.2010C>T (p.Pro670=)
| ClinVar |
12 | g.76345975G>C | CA481010905 | BBS10 | c.2010C>G (p.Pro670=)
| |
12 | g.76345975G>T | CA481010907 | BBS10 | c.2010C>A (p.Pro670=)
| |
12 | g.76345976G>A | CA385808550 | BBS10 | c.2009C>T (p.Pro670Leu)
| |
12 | g.76345976G>C | CA385808554 | BBS10 | c.2009C>G (p.Pro670Arg)
| |
12 | g.76345976G>T | CA385808552 | BBS10 | c.2009C>A (p.Pro670His)
| |
12 | g.76345977G>A | CA385808556 | BBS10 | c.2008C>T (p.Pro670Ser)
| gnomAD v4 |
12 | g.76345977G>C | CA385808558 | BBS10 | c.2008C>G (p.Pro670Ala)
| |
12 | g.76345977G>T | CA385808560 | BBS10 | c.2008C>A (p.Pro670Thr)
| |
12 | g.76345978T>A | CA385808562 | BBS10 | c.2007A>T (p.Gln669His)
| |
12 | g.76345978T>C | CA481010920 | BBS10 | c.2007A>G (p.Gln669=)
| gnomAD v4 COSMIC |
12 | g.76345978T>G | CA385808563 | BBS10 | c.2007A>C (p.Gln669His)
| |
12 | g.76345979T>A | CA385808565 | BBS10 | c.2006A>T (p.Gln669Leu)
| |
12 | g.76345979T>C | CA385808566 | BBS10 | c.2006A>G (p.Gln669Arg)
| |
12 | g.76345979T>G | CA385808567 | BBS10 | c.2006A>C (p.Gln669Pro)
| |
12 | g.76345980G>A | CA385808568 | BBS10 | c.2005C>T (p.Gln669Ter)
| |
12 | g.76345980G>C | CA6694058 | BBS10 | c.2005C>G (p.Gln669Glu)
| dbSNP ExAC gnomAD v2 |
12 | g.76345980G= | CA2047353101 | BBS10 | c.2005C= (p.Gln669=)
| |
12 | g.76345980G>T | CA385808570 | BBS10 | c.2005C>A (p.Gln669Lys)
| gnomAD v4 |
12 | g.76345981A= | CA2047353102 | BBS10 | c.2004T= (p.Asn668=)
| |
12 | g.76345981A>C | CA6694059 | BBS10 | c.2004T>G (p.Asn668Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
12 | g.76345981A>G | CA481010931 | BBS10 | c.2004T>C (p.Asn668=)
| ClinVar |
12 | g.76345981A>T | CA385808574 | BBS10 | c.2004T>A (p.Asn668Lys)
| |
12 | g.76345982T>A | CA385808576 | BBS10 | c.2003A>T (p.Asn668Ile)
| dbSNP gnomAD v4 |
12 | g.76345982T>C | CA6694060 | BBS10 | c.2003A>G (p.Asn668Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76345982T>G | CA385808575 | BBS10 | c.2003A>C (p.Asn668Thr)
| |
12 | g.76345982T= | CA2047353103 | BBS10 | c.2003A= (p.Asn668=)
| |
12 | g.76345983T>A | CA385808577 | BBS10 | c.2002A>T (p.Asn668Tyr)
| |
12 | g.76345983T>C | CA385808578 | BBS10 | c.2002A>G (p.Asn668Asp)
| ClinVar |
12 | g.76345983T>G | CA385808579 | BBS10 | c.2002A>C (p.Asn668His)
| |
12 | g.76345984G>A | CA481010942 | BBS10 | c.2001C>T (p.Thr667=)
| |
12 | g.76345984G>C | CA481010939 | BBS10 | c.2001C>G (p.Thr667=)
| |
12 | g.76345984G>T | CA481010938 | BBS10 | c.2001C>A (p.Thr667=)
| |
12 | g.76345985G>A | CA385808580 | BBS10 | c.2000C>T (p.Thr667Ile)
| |
12 | g.76345985G>C | CA385808581 | BBS10 | c.2000C>G (p.Thr667Ser)
| |
12 | g.76345985G>T | CA385808582 | BBS10 | c.2000C>A (p.Thr667Asn)
| |
12 | g.76345986T>A | CA385808588 | BBS10 | c.1999A>T (p.Thr667Ser)
| |
12 | g.76345986T>C | CA385808590 | BBS10 | c.1999A>G (p.Thr667Ala)
| gnomAD v4 |
12 | g.76345986T>G | CA385808592 | BBS10 | c.1999A>C (p.Thr667Pro)
| |
12 | g.76345987T>A | CA385808594 | BBS10 | c.1998A>T (p.Gln666His)
| |
12 | g.76345987T>C | CA481010951 | BBS10 | c.1998A>G (p.Gln666=)
| |
12 | g.76345987T>G | CA385808595 | BBS10 | c.1998A>C (p.Gln666His)
| |
12 | g.76345988T>A | CA385808600 | BBS10 | c.1997A>T (p.Gln666Leu)
| |
12 | g.76345988T>C | CA385808599 | BBS10 | c.1997A>G (p.Gln666Arg)
| |
12 | g.76345988T>G | CA385808597 | BBS10 | c.1997A>C (p.Gln666Pro)
| |
12 | g.76345989G>A | CA385808604 | BBS10 | c.1996C>T (p.Gln666Ter)
| |
12 | g.76345989G>C | CA385808606 | BBS10 | c.1996C>G (p.Gln666Glu)
| |
12 | g.76345989G>T | CA385808607 | BBS10 | c.1996C>A (p.Gln666Lys)
| |
12 | g.76345990C>A | CA481010957 | BBS10 | c.1995G>T (p.Leu665=)
| |
12 | g.76345990C>G | CA481010961 | BBS10 | c.1995G>C (p.Leu665=)
| |
12 | g.76345990C>T | CA481010959 | BBS10 | c.1995G>A (p.Leu665=)
| |
12 | g.76345991A>C | CA385808608 | BBS10 | c.1994T>G (p.Leu665Arg)
| |
12 | g.76345991A>G | CA385808609 | BBS10 | c.1994T>C (p.Leu665Pro)
| |
12 | g.76345991A>T | CA385808611 | BBS10 | c.1994T>A (p.Leu665Gln)
| |
12 | g.76345992G>A | CA481010965 | BBS10 | c.1993C>T (p.Leu665=)
| |
12 | g.76345992G>C | CA385808613 | BBS10 | c.1993C>G (p.Leu665Val)
| |
12 | g.76345992G>T | CA385808614 | BBS10 | c.1993C>A (p.Leu665Met)
| |
12 | g.76345993T>A | CA481010969 | BBS10 | c.1992A>T (p.Ala664=)
| |
12 | g.76345993T>C | CA6694061 | BBS10 | c.1992A>G (p.Ala664=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76345993T>G | CA481010976 | BBS10 | c.1992A>C (p.Ala664=)
| |
12 | g.76345993T= | CA2047353104 | BBS10 | c.1992A= (p.Ala664=)
| |
12 | g.76345994G>A | CA385808617 | BBS10 | c.1991C>T (p.Ala664Val)
| gnomAD v4 COSMIC |
12 | g.76345994G>C | CA385808619 | BBS10 | c.1991C>G (p.Ala664Gly)
| |
12 | g.76345994G>T | CA385808620 | BBS10 | c.1991C>A (p.Ala664Glu)
| gnomAD v4 |
12 | g.76345995C>A | CA385808623 | BBS10 | c.1990G>T (p.Ala664Ser)
| |
12 | g.76345995C>G | CA385808626 | BBS10 | c.1990G>C (p.Ala664Pro)
| |
12 | g.76345995C>T | CA385808622 | BBS10 | c.1990G>A (p.Ala664Thr)
| gnomAD v4 |
12 | g.76345996A>C | CA385808628 | BBS10 | c.1989T>G (p.His663Gln)
| |
12 | g.76345996A>G | CA481010981 | BBS10 | c.1989T>C (p.His663=)
| ClinVar |
12 | g.76345996A>T | CA385808630 | BBS10 | c.1989T>A (p.His663Gln)
| |
12 | g.76345997T>A | CA385808632 | BBS10 | c.1988A>T (p.His663Leu)
| |
12 | g.76345997T>C | CA6694062 | BBS10 | c.1988A>G (p.His663Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.76345997T>G | CA385808635 | BBS10 | c.1988A>C (p.His663Pro)
| |
12 | g.76345997T= | CA2047353105 | BBS10 | c.1988A= (p.His663=)
| |
12 | g.76345998G>A | CA385808640 | BBS10 | c.1987C>T (p.His663Tyr)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.76345998G>C | CA385808637 | BBS10 | c.1987C>G (p.His663Asp)
| |
12 | g.76345998G= | CA2047353106 | BBS10 | c.1987C= (p.His663=)
| |
12 | g.76345998G>T | CA385808639 | BBS10 | c.1987C>A (p.His663Asn)
| |
12 | g.76345999G>A | CA481010986 | BBS10 | c.1986C>T (p.Val662=)
| |
12 | g.76345999G>C | CA481010987 | BBS10 | c.1986C>G (p.Val662=)
| |
12 | g.76345999G>T | CA481010988 | BBS10 | c.1986C>A (p.Val662=)
| dbSNP |
12 | g.76346000A>C | CA385808641 | BBS10 | c.1985T>G (p.Val662Gly)
| |
12 | g.76346000A>G | CA385808644 | BBS10 | c.1985T>C (p.Val662Ala)
| gnomAD v4 |
12 | g.76346000A>T | CA385808646 | BBS10 | c.1985T>A (p.Val662Asp)
| |
12 | g.76346001C>A | CA385808648 | BBS10 | c.1984G>T (p.Val662Phe)
| |
12 | g.76346001C>G | CA385808650 | BBS10 | c.1984G>C (p.Val662Leu)
| |
12 | g.76346001C>T | CA385808652 | BBS10 | c.1984G>A (p.Val662Ile)
| |
12 | g.76346002A>C | CA481010991 | BBS10 | c.1983T>G (p.Ala661=)
| |
12 | g.76346002A>G | CA481010992 | BBS10 | c.1983T>C (p.Ala661=)
| gnomAD v4 |
12 | g.76346002A>T | CA481010993 | BBS10 | c.1983T>A (p.Ala661=)
| |
12 | g.76346003G>A | CA385808656 | BBS10 | c.1982C>T (p.Ala661Val)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.76346003G>C | CA385808658 | BBS10 | c.1982C>G (p.Ala661Gly)
| |
12 | g.76346003G= | CA2047353107 | BBS10 | c.1982C= (p.Ala661=)
| |
12 | g.76346003G>T | CA385808654 | BBS10 | c.1982C>A (p.Ala661Asp)
| gnomAD v4 |
12 | g.76346004C>A | CA385808661 | BBS10 | c.1981G>T (p.Ala661Ser)
| |
12 | g.76346004C>G | CA385808665 | BBS10 | c.1981G>C (p.Ala661Pro)
| |
12 | g.76346004C>T | CA385808663 | BBS10 | c.1981G>A (p.Ala661Thr)
| |
12 | g.76346005T>A | CA6694063 | BBS10 | c.1980A>T (p.Arg660Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76346005T>C | CA481010997 | BBS10 | c.1980A>G (p.Arg660=)
| |
12 | g.76346005T>G | CA385808666 | BBS10 | c.1980A>C (p.Arg660Ser)
| |
12 | g.76346005T= | CA2047353108 | BBS10 | c.1980A= (p.Arg660=)
| |
12 | g.76346006C>A | CA385808667 | BBS10 | c.1979G>T (p.Arg660Ile)
| |
12 | g.76346006C>G | CA385808669 | BBS10 | c.1979G>C (p.Arg660Thr)
| |
12 | g.76346006C>T | CA385808668 | BBS10 | c.1979G>A (p.Arg660Lys)
| |
12 | g.76346007T>A | CA385808671 | BBS10 | c.1978A>T (p.Arg660Ter)
| |
12 | g.76346007T>C | CA385808672 | BBS10 | c.1978A>G (p.Arg660Gly)
| dbSNP |
12 | g.76346007T>G | CA6694064 | BBS10 | c.1978A>C (p.Arg660=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76346007T= | CA2047353109 | BBS10 | c.1978A= (p.Arg660=)
| |
12 | g.76346008T>A | CA481011003 | BBS10 | c.1977A>T (p.Ile659=)
| |
12 | g.76346008T>C | CA385808674 | BBS10 | c.1977A>G (p.Ile659Met)
| |
12 | g.76346008T>G | CA481011004 | BBS10 | c.1977A>C (p.Ile659=)
| |
12 | g.76346009A>C | CA385808676 | BBS10 | c.1976T>G (p.Ile659Arg)
| |
12 | g.76346009A>G | CA385808679 | BBS10 | c.1976T>C (p.Ile659Thr)
| |
12 | g.76346009A>T | CA385808681 | BBS10 | c.1976T>A (p.Ile659Lys)
| |
12 | g.76346010T>A | CA6694065 | BBS10 | c.1975A>T (p.Ile659Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76346010T>C | CA6694066 | BBS10 | c.1975A>G (p.Ile659Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.76346010T>G | CA385808685 | BBS10 | c.1975A>C (p.Ile659Leu)
| |
12 | g.76346010T= | CA2047353110 | BBS10 | c.1975A= (p.Ile659=)
| |
12 | g.76346010_76346014del | CA2697551496 | BBS10 | c.1971_1975del (p.Tyr658LysfsTer25)
| ClinVar |
12 | g.76346011A= | CA2047353111 | BBS10 | c.1974T= (p.Tyr658=)
| |
12 | g.76346011A>C | CA385808691 | BBS10 | c.1974T>G (p.Tyr658Ter)
| |
12 | g.76346011A>G | CA6694067 | BBS10 | c.1974T>C (p.Tyr658=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76346011A>T | CA385808688 | BBS10 | c.1974T>A (p.Tyr658Ter)
| |
12 | g.76346012T>A | CA10642492 | BBS10 | c.1973A>T (p.Tyr658Phe)
| ClinVar dbSNP |
12 | g.76346012T>C | CA385808694 | BBS10 | c.1973A>G (p.Tyr658Cys)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.76346012T>G | CA385808696 | BBS10 | c.1973A>C (p.Tyr658Ser)
| |
12 | g.76346012T= | CA2047353112 | BBS10 | c.1973A= (p.Tyr658=)
| |
12 | g.76346013A= | CA2047353113 | BBS10 | c.1972T= (p.Tyr658=)
| |
12 | g.76346013A>C | CA385808698 | BBS10 | c.1972T>G (p.Tyr658Asp)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.76346013A>G | CA385808700 | BBS10 | c.1972T>C (p.Tyr658His)
| |
12 | g.76346013A>T | CA385808701 | BBS10 | c.1972T>A (p.Tyr658Asn)
| gnomAD v4 |
12 | g.76346014T>A | CA481011015 | BBS10 | c.1971A>T (p.Thr657=)
| |
12 | g.76346014T>C | CA481011016 | BBS10 | c.1971A>G (p.Thr657=)
| ClinVar dbSNP |
12 | g.76346014T>G | CA481011017 | BBS10 | c.1971A>C (p.Thr657=)
| gnomAD v4 |
12 | g.76346015G>A | CA6694068 | BBS10 | c.1970C>T (p.Thr657Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76346015G>C | CA385808705 | BBS10 | c.1970C>G (p.Thr657Arg)
| |
12 | g.76346015G= | CA2047353114 | BBS10 | c.1970C= (p.Thr657=)
| |
12 | g.76346015G>T | CA6694069 | BBS10 | c.1970C>A (p.Thr657Lys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.76346016T>A | CA385808707 | BBS10 | c.1969A>T (p.Thr657Ser)
| |
12 | g.76346016T>C | CA6694070 | BBS10 | c.1969A>G (p.Thr657Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76346016T>G | CA385808709 | BBS10 | c.1969A>C (p.Thr657Pro)
| |
12 | g.76346016T= | CA2047353115 | BBS10 | c.1969A= (p.Thr657=)
| |
12 | g.76346016dup | CA606185889 | BBS10 | c.1969dup (p.Thr657AsnfsTer28)
| gnomAD v2 gnomAD v4 |
12 | g.76346017A>C | CA385808710 | BBS10 | c.1968T>G (p.His656Gln)
| |
12 | g.76346017A>G | CA481011020 | BBS10 | c.1968T>C (p.His656=)
| |
12 | g.76346017A>T | CA385808712 | BBS10 | c.1968T>A (p.His656Gln)
| |
12 | g.76346018del | CA2695217030 | BBS10 | c.1967del (p.His656LeufsTer4)
| |
12 | g.76346018T>A | CA385808715 | BBS10 | c.1967A>T (p.His656Leu)
| |
12 | g.76346018T>C | CA385808716 | BBS10 | c.1967A>G (p.His656Arg)
| dbSNP |
12 | g.76346018T>G | CA385808717 | BBS10 | c.1967A>C (p.His656Pro)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.76346018T= | CA2047353116 | BBS10 | c.1967A= (p.His656=)
| |
12 | g.76346021_76346030del | CA2695217029 | BBS10 | c.1958_1967del (p.Ser653IlefsTer4)
| |
12 | g.76346019G>A | CA6694071 | BBS10 | c.1966C>T (p.His656Tyr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.76346019G>C | CA385808719 | BBS10 | c.1966C>G (p.His656Asp)
| |
12 | g.76346019G= | CA2047353117 | BBS10 | c.1966C= (p.His656=)
| |
12 | g.76346019G>T | CA385808722 | BBS10 | c.1966C>A (p.His656Asn)
| |
12 | g.76346020T>A | CA481011023 | BBS10 | c.1965A>T (p.Pro655=)
| |
12 | g.76346020T>C | CA481011024 | BBS10 | c.1965A>G (p.Pro655=)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.76346020T>G | CA481011025 | BBS10 | c.1965A>C (p.Pro655=)
| |
12 | g.76346020T= | CA2047353118 | BBS10 | c.1965A= (p.Pro655=)
| |
12 | g.76346021G>A | CA6694072 | BBS10 | c.1964C>T (p.Pro655Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76346021G>C | CA385808727 | BBS10 | c.1964C>G (p.Pro655Arg)
| |
12 | g.76346021G= | CA2047353119 | BBS10 | c.1964C= (p.Pro655=)
| |
12 | g.76346021G>T | CA385808730 | BBS10 | c.1964C>A (p.Pro655Gln)
| gnomAD v4 |
12 | g.76346022G>A | CA239331491 | BBS10 | c.1963C>T (p.Pro655Ser)
| dbSNP |
12 | g.76346022G>C | CA385808733 | BBS10 | c.1963C>G (p.Pro655Ala)
| |
12 | g.76346022G= | CA2047353120 | BBS10 | c.1963C= (p.Pro655=)
| |
12 | g.76346022G>T | CA385808736 | BBS10 | c.1963C>A (p.Pro655Thr)
| |
12 | g.76346023A>C | CA385808741 | BBS10 | c.1962T>G (p.Phe654Leu)
| |
12 | g.76346023A>G | CA481011029 | BBS10 | c.1962T>C (p.Phe654=)
| |
12 | g.76346023A>T | CA385808739 | BBS10 | c.1962T>A (p.Phe654Leu)
| |
12 | g.76346024A>C | CA385808745 | BBS10 | c.1961T>G (p.Phe654Cys)
| |
12 | g.76346024A>G | CA385808747 | BBS10 | c.1961T>C (p.Phe654Ser)
| |
12 | g.76346024A>T | CA385808750 | BBS10 | c.1961T>A (p.Phe654Tyr)
| |
12 | g.76346025A>C | CA385808753 | BBS10 | c.1960T>G (p.Phe654Val)
| |
12 | g.76346025A>G | CA385808756 | BBS10 | c.1960T>C (p.Phe654Leu)
| |
12 | g.76346025A>T | CA385808758 | BBS10 | c.1960T>A (p.Phe654Ile)
| |
12 | g.76346025_76346026delinsAG | CA2047353121 | BBS10 | c.1959_1960delinsCT (p.Ser653=)
| |
12 | g.76346026del | CA16041575 | BBS10 | c.1959del (p.Pro655HisfsTer5)
| ClinVar dbSNP |
12 | g.76346026G>A | CA6694073 | BBS10 | c.1959C>T (p.Ser653=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76346026G>C | CA385808763 | BBS10 | c.1959C>G (p.Ser653Arg)
| |
12 | g.76346026G= | CA2047353122 | BBS10 | c.1959C= (p.Ser653=)
| |
12 | g.76346026G>T | CA385808767 | BBS10 | c.1959C>A (p.Ser653Arg)
| |