12 | g.76345959_76345963delinsTCTGA | CA2047353097 | BBS10 | c.2022_2026delinsTCAGA (p.Ser674=)
| |
12 | g.76345963_76345966del | CA606185888 | BBS10 | c.2022_2025del (p.Ser674ArgfsTer7)
| dbSNP gnomAD v2 |
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)
| |
12 | g.76346027C>A | CA385808773 | BBS10 | c.1958G>T (p.Ser653Ile)
| |
12 | g.76346027C>G | CA385808775 | BBS10 | c.1958G>C (p.Ser653Thr)
| |
12 | g.76346027C>T | CA385808778 | BBS10 | c.1958G>A (p.Ser653Asn)
| |
12 | g.76346028T>A | CA385808788 | BBS10 | c.1957A>T (p.Ser653Cys)
| |
12 | g.76346028T>C | CA385808789 | BBS10 | c.1957A>G (p.Ser653Gly)
| |
12 | g.76346028T>G | CA385808785 | BBS10 | c.1957A>C (p.Ser653Arg)
| |
12 | g.76346029del | CA2619945586 | BBS10 | c.1956del (p.Tyr652Ter)
| gnomAD v4 |
12 | g.76346029G>A | CA481011034 | BBS10 | c.1956C>T (p.Tyr652=)
| ClinVar dbSNP |
12 | g.76346029G>C | CA385808798 | BBS10 | c.1956C>G (p.Tyr652Ter)
| ClinVar |
12 | g.76346029G= | CA2047353123 | BBS10 | c.1956C= (p.Tyr652=)
| |
12 | g.76346029G>T | CA385808795 | BBS10 | c.1956C>A (p.Tyr652Ter)
| |
12 | g.76346030T>A | CA385808802 | BBS10 | c.1955A>T (p.Tyr652Phe)
| |
12 | g.76346030T>C | CA385808805 | BBS10 | c.1955A>G (p.Tyr652Cys)
| gnomAD v4 |
12 | g.76346030T>G | CA385808806 | BBS10 | c.1955A>C (p.Tyr652Ser)
| |
12 | g.76346031A= | CA2047353124 | BBS10 | c.1954T= (p.Tyr652=)
| |
12 | g.76346031A>C | CA385808807 | BBS10 | c.1954T>G (p.Tyr652Asp)
| |
12 | g.76346031A>G | CA6694074 | BBS10 | c.1954T>C (p.Tyr652His)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.76346031A>T | CA385808809 | BBS10 | c.1954T>A (p.Tyr652Asn)
| |
12 | g.76346032C>A | CA385808812 | BBS10 | c.1953G>T (p.Lys651Asn)
| |
12 | g.76346032C= | CA2047353125 | BBS10 | c.1953G= (p.Lys651=)
| |
12 | g.76346032C>G | CA385808814 | BBS10 | c.1953G>C (p.Lys651Asn)
| |
12 | g.76346032C>T | CA481011044 | BBS10 | c.1953G>A (p.Lys651=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.76346032_76346033del | CA912974180 | BBS10 | c.1952_1953del (p.Lys651IlefsTer?)
| |
12 | g.76346032_76346033delinsCT | CA2047353126 | BBS10 | c.1952_1953delinsAG (p.Lys651=)
| |
12 | g.76346033T>A | CA385808818 | BBS10 | c.1952A>T (p.Lys651Met)
| |
12 | g.76346033T>C | CA385808819 | BBS10 | c.1952A>G (p.Lys651Arg)
| |
12 | g.76346033T>G | CA385808822 | BBS10 | c.1952A>C (p.Lys651Thr)
| |
12 | g.76346035del | CA658823422 | BBS10 | c.1952del (p.Lys651SerfsTer9)
| ClinVar dbSNP |
12 | g.76346034T>A | CA385808831 | BBS10 | c.1951A>T (p.Lys651Ter)
| |
12 | g.76346034T>C | CA385808828 | BBS10 | c.1951A>G (p.Lys651Glu)
| gnomAD v4 |
12 | g.76346034T>G | CA385808825 | BBS10 | c.1951A>C (p.Lys651Gln)
| |
12 | g.76346035T>A | CA481011046 | BBS10 | c.1950A>T (p.Gly650=)
| |
12 | g.76346035T>C | CA481011047 | BBS10 | c.1950A>G (p.Gly650=)
| gnomAD v4 |
12 | g.76346035T>G | CA481011048 | BBS10 | c.1950A>C (p.Gly650=)
| ClinVar dbSNP |
12 | g.76346035T= | CA2047353128 | BBS10 | c.1950A= (p.Gly650=)
| |
12 | g.76346035_76346036del | CA912974181 | BBS10 | c.1949_1950del (p.Gly650GlufsTer?)
| |
12 | g.76346035_76346036delinsTC | CA2047353127 | BBS10 | c.1949_1950delinsGA (p.Gly650=)
| |
12 | g.76346036C>A | CA385808835 | BBS10 | c.1949G>T (p.Gly650Val)
| |
12 | g.76346036C>G | CA385808837 | BBS10 | c.1949G>C (p.Gly650Ala)
| |
12 | g.76346036C>T | CA385808843 | BBS10 | c.1949G>A (p.Gly650Glu)
| |
12 | g.76346037del | CA6694075 | BBS10 | c.1949del (p.Gly650GlufsTer10)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.76346037C>A | CA385808847 | BBS10 | c.1948G>T (p.Gly650Ter)
| |
12 | g.76346037C= | CA2047353129 | BBS10 | c.1948G= (p.Gly650=)
| |
12 | g.76346037C>G | CA385808854 | BBS10 | c.1948G>C (p.Gly650Arg)
| |
12 | g.76346037C>T | CA6694076 | BBS10 | c.1948G>A (p.Gly650Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.76346038T>A | CA481011054 | BBS10 | c.1947A>T (p.Thr649=)
| |
12 | g.76346038T>C | CA481011055 | BBS10 | c.1947A>G (p.Thr649=)
| ClinVar dbSNP |
12 | g.76346038T>G | CA481011056 | BBS10 | c.1947A>C (p.Thr649=)
| |
12 | g.76346039G>A | CA385808860 | BBS10 | c.1946C>T (p.Thr649Ile)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.76346039G>C | CA6694077 | BBS10 | c.1946C>G (p.Thr649Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76346039G= | CA2047353130 | BBS10 | c.1946C= (p.Thr649=)
| |
12 | g.76346039G>T | CA385808862 | BBS10 | c.1946C>A (p.Thr649Lys)
| |
12 | g.76346040T>A | CA385808865 | BBS10 | c.1945A>T (p.Thr649Ser)
| |
12 | g.76346040T>C | CA385808866 | BBS10 | c.1945A>G (p.Thr649Ala)
| |
12 | g.76346040T>G | CA385808868 | BBS10 | c.1945A>C (p.Thr649Pro)
| |
12 | g.76346041T>A | CA385808870 | BBS10 | c.1944A>T (p.Lys648Asn)
| |
12 | g.76346041T>C | CA481011060 | BBS10 | c.1944A>G (p.Lys648=)
| ClinVar |
12 | g.76346041T>G | CA385808872 | BBS10 | c.1944A>C (p.Lys648Asn)
| |
12 | g.76346042T>A | CA239331513 | BBS10 | c.1943A>T (p.Lys648Ile)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76346042T>C | CA385808875 | BBS10 | c.1943A>G (p.Lys648Arg)
| |
12 | g.76346042T>G | CA385808876 | BBS10 | c.1943A>C (p.Lys648Thr)
| |
12 | g.76346042T= | CA2047353131 | BBS10 | c.1943A= (p.Lys648=)
| |
12 | g.76346043T>A | CA385808877 | BBS10 | c.1942A>T (p.Lys648Ter)
| |
12 | g.76346043T>C | CA385808878 | BBS10 | c.1942A>G (p.Lys648Glu)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.76346043T>G | CA385808880 | BBS10 | c.1942A>C (p.Lys648Gln)
| |
12 | g.76346043T= | CA2047353132 | BBS10 | c.1942A= (p.Lys648=)
| |
12 | g.76346044A= | CA2047353133 | BBS10 | c.1941T= (p.Ser647=)
| |
12 | g.76346044A>C | CA6694078 | BBS10 | c.1941T>G (p.Ser647=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.76346044A>G | CA481011064 | BBS10 | c.1941T>C (p.Ser647=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.76346044A>T | CA481011065 | BBS10 | c.1941T>A (p.Ser647=)
| |
12 | g.76346045G>A | CA385808894 | BBS10 | c.1940C>T (p.Ser647Phe)
| |
12 | g.76346045G>C | CA385808896 | BBS10 | c.1940C>G (p.Ser647Cys)
| |
12 | g.76346045G>T | CA385808897 | BBS10 | c.1940C>A (p.Ser647Tyr)
| |
12 | g.76346046A= | CA2047353134 | BBS10 | c.1939T= (p.Ser647=)
| |
12 | g.76346046A>C | CA239331520 | BBS10 | c.1939T>G (p.Ser647Ala)
| dbSNP gnomAD v4 |
12 | g.76346046A>G | CA385808902 | BBS10 | c.1939T>C (p.Ser647Pro)
| |
12 | g.76346046A>T | CA385808903 | BBS10 | c.1939T>A (p.Ser647Thr)
| gnomAD v4 |
12 | g.76346047T>A | CA385808908 | BBS10 | c.1938A>T (p.Lys646Asn)
| |
12 | g.76346047T>C | CA481011068 | BBS10 | c.1938A>G (p.Lys646=)
| |
12 | g.76346047T>G | CA385808905 | BBS10 | c.1938A>C (p.Lys646Asn)
| dbSNP |
12 | g.76346047T= | CA2047353135 | BBS10 | c.1938A= (p.Lys646=)
| |
12 | g.76346048T>A | CA385808911 | BBS10 | c.1937A>T (p.Lys646Ile)
| gnomAD v4 |
12 | g.76346048T>C | CA385808913 | BBS10 | c.1937A>G (p.Lys646Arg)
| dbSNP gnomAD v4 |
12 | g.76346048T>G | CA385808921 | BBS10 | c.1937A>C (p.Lys646Thr)
| |
12 | g.76346048T= | CA2047353136 | BBS10 | c.1937A= (p.Lys646=)
| |
12 | g.76346049T>A | CA385808924 | BBS10 | c.1936A>T (p.Lys646Ter)
| |
12 | g.76346049T>C | CA6694079 | BBS10 | c.1936A>G (p.Lys646Glu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76346049T>G | CA385808928 | BBS10 | c.1936A>C (p.Lys646Gln)
| |
12 | g.76346049T= | CA2047353137 | BBS10 | c.1936A= (p.Lys646=)
| |
12 | g.76346050A>C | CA385808930 | BBS10 | c.1935T>G (p.Tyr645Ter)
| |
12 | g.76346050A>G | CA481011072 | BBS10 | c.1935T>C (p.Tyr645=)
| |
12 | g.76346050A>T | CA385808931 | BBS10 | c.1935T>A (p.Tyr645Ter)
| |
12 | g.76346051T>A | CA385808935 | BBS10 | c.1934A>T (p.Tyr645Phe)
| |
12 | g.76346051T>C | CA385808937 | BBS10 | c.1934A>G (p.Tyr645Cys)
| gnomAD v4 |
12 | g.76346051T>G | CA385808939 | BBS10 | c.1934A>C (p.Tyr645Ser)
| |
12 | g.76346052A>C | CA385808944 | BBS10 | c.1933T>G (p.Tyr645Asp)
| |
12 | g.76346052A>G | CA385808946 | BBS10 | c.1933T>C (p.Tyr645His)
| |
12 | g.76346052A>T | CA385808949 | BBS10 | c.1933T>A (p.Tyr645Asn)
| |
12 | g.76346053A>C | CA481011077 | BBS10 | c.1932T>G (p.Leu644=)
| |
12 | g.76346053A>G | CA481011078 | BBS10 | c.1932T>C (p.Leu644=)
| |
12 | g.76346053A>T | CA481011079 | BBS10 | c.1932T>A (p.Leu644=)
| |
12 | g.76346054A>C | CA385808958 | BBS10 | c.1931T>G (p.Leu644Arg)
| |
12 | g.76346054A>G | CA385808954 | BBS10 | c.1931T>C (p.Leu644Pro)
| |
12 | g.76346054A>T | CA385808952 | BBS10 | c.1931T>A (p.Leu644His)
| |
12 | g.76346055G>A | CA385808963 | BBS10 | c.1930C>T (p.Leu644Phe)
| ClinVar gnomAD v4 |
12 | g.76346055G>C | CA385808961 | BBS10 | c.1930C>G (p.Leu644Val)
| gnomAD v4 |
12 | g.76346055G>T | CA385808967 | BBS10 | c.1930C>A (p.Leu644Ile)
| |
12 | g.76346056G>A | CA6694080 | BBS10 | c.1929C>T (p.Val643=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.76346056G>C | CA481011085 | BBS10 | c.1929C>G (p.Val643=)
| |
12 | g.76346056G= | CA2047353138 | BBS10 | c.1929C= (p.Val643=)
| |
12 | g.76346056G>T | CA481011087 | BBS10 | c.1929C>A (p.Val643=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.76346057A= | CA2047353139 | BBS10 | c.1928T= (p.Val643=)
| |
12 | g.76346057A>C | CA385808972 | BBS10 | c.1928T>G (p.Val643Gly)
| |
12 | g.76346057A>G | CA385808976 | BBS10 | c.1928T>C (p.Val643Ala)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.76346057A>T | CA385808978 | BBS10 | c.1928T>A (p.Val643Asp)
| |
12 | g.76346058C>A | CA385808979 | BBS10 | c.1927G>T (p.Val643Phe)
| |
12 | g.76346058C= | CA2047353140 | BBS10 | c.1927G= (p.Val643=)
| |
12 | g.76346058C>G | CA385808980 | BBS10 | c.1927G>C (p.Val643Leu)
| |
12 | g.76346058C>T | CA6694081 | BBS10 | c.1927G>A (p.Val643Ile)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76346059T>A | CA385808982 | BBS10 | c.1926A>T (p.Lys642Asn)
| |
12 | g.76346059T>C | CA481011100 | BBS10 | c.1926A>G (p.Lys642=)
| |
12 | g.76346059T>G | CA385808983 | BBS10 | c.1926A>C (p.Lys642Asn)
| |
12 | g.76346060T>A | CA385808987 | BBS10 | c.1925A>T (p.Lys642Ile)
| |
12 | g.76346060T>C | CA6694082 | BBS10 | c.1925A>G (p.Lys642Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76346060T>G | CA385808990 | BBS10 | c.1925A>C (p.Lys642Thr)
| |
12 | g.76346060T= | CA2047353141 | BBS10 | c.1925A= (p.Lys642=)
| |
12 | g.76346061T>A | CA385808995 | BBS10 | c.1924A>T (p.Lys642Ter)
| |
12 | g.76346061T>C | CA385808996 | BBS10 | c.1924A>G (p.Lys642Glu)
| |
12 | g.76346061T>G | CA385808993 | BBS10 | c.1924A>C (p.Lys642Gln)
| |
12 | g.76346062G>A | CA6694083 | BBS10 | c.1923C>T (p.Pro641=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76346062G>C | CA481011107 | BBS10 | c.1923C>G (p.Pro641=)
| dbSNP |
12 | g.76346062G= | CA2047353142 | BBS10 | c.1923C= (p.Pro641=)
| |
12 | g.76346062G>T | CA481011108 | BBS10 | c.1923C>A (p.Pro641=)
| |
12 | g.76346063G>A | CA385809001 | BBS10 | c.1922C>T (p.Pro641Leu)
| gnomAD v4 |
12 | g.76346063G>C | CA385809003 | BBS10 | c.1922C>G (p.Pro641Arg)
| |
12 | g.76346063G>T | CA385809006 | BBS10 | c.1922C>A (p.Pro641His)
| |