12 | g.76346071_76346079del | CA2796591352 | BBS10 | c.1907_1915del (p.Ala636_Leu638del)
| |
12 | g.76346071T>A | CA385809056 | BBS10 | c.1914A>T (p.Leu638Phe)
| |
12 | g.76346071T>C | CA481011134 | BBS10 | c.1914A>G (p.Leu638=)
| |
12 | g.76346071T>G | CA385809058 | BBS10 | c.1914A>C (p.Leu638Phe)
| |
12 | g.76346072A= | CA2047353146 | BBS10 | c.1913T= (p.Leu638=)
| |
12 | g.76346072A>C | CA385809065 | BBS10 | c.1913T>G (p.Leu638Ter)
| |
12 | g.76346072A>G | CA385809060 | BBS10 | c.1913T>C (p.Leu638Ser)
| dbSNP |
12 | g.76346072A>T | CA385809063 | BBS10 | c.1913T>A (p.Leu638Ter)
| |
12 | g.76346073A= | CA2047353147 | BBS10 | c.1912T= (p.Leu638=)
| |
12 | g.76346073A>C | CA385809068 | BBS10 | c.1912T>G (p.Leu638Val)
| gnomAD v4 |
12 | g.76346073A>G | CA481011136 | BBS10 | c.1912T>C (p.Leu638=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.76346073A>T | CA385809069 | BBS10 | c.1912T>A (p.Leu638Ile)
| |
12 | g.76346074A>C | CA481011142 | BBS10 | c.1911T>G (p.Leu637=)
| |
12 | g.76346074A>G | CA481011140 | BBS10 | c.1911T>C (p.Leu637=)
| |
12 | g.76346074A>T | CA481011138 | BBS10 | c.1911T>A (p.Leu637=)
| |
12 | g.76346075A= | CA2047353148 | BBS10 | c.1910T= (p.Leu637=)
| |
12 | g.76346075A>C | CA385809071 | BBS10 | c.1910T>G (p.Leu637Arg)
| dbSNP |
12 | g.76346075A>G | CA385809073 | BBS10 | c.1910T>C (p.Leu637Pro)
| |
12 | g.76346075A>T | CA385809075 | BBS10 | c.1910T>A (p.Leu637His)
| |
12 | g.76346076G>A | CA385809078 | BBS10 | c.1909C>T (p.Leu637Phe)
| dbSNP gnomAD v3 |
12 | g.76346076G>C | CA385809080 | BBS10 | c.1909C>G (p.Leu637Val)
| ClinVar dbSNP |
12 | g.76346076G= | CA2047353149 | BBS10 | c.1909C= (p.Leu637=)
| |
12 | g.76346076G>T | CA6694086 | BBS10 | c.1909C>A (p.Leu637Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.76346077T>A | CA481011147 | BBS10 | c.1908A>T (p.Ala636=)
| |
12 | g.76346077T>C | CA481011151 | BBS10 | c.1908A>G (p.Ala636=)
| |
12 | g.76346077T>G | CA481011155 | BBS10 | c.1908A>C (p.Ala636=)
| |
12 | g.76346078G>A | CA239331547 | BBS10 | c.1907C>T (p.Ala636Val)
| ClinVar dbSNP |
12 | g.76346078G>C | CA385809083 | BBS10 | c.1907C>G (p.Ala636Gly)
| |
12 | g.76346078G= | CA2047353150 | BBS10 | c.1907C= (p.Ala636=)
| |
12 | g.76346078G>T | CA385809085 | BBS10 | c.1907C>A (p.Ala636Glu)
| |
12 | g.76346079C>A | CA385809087 | BBS10 | c.1906G>T (p.Ala636Ser)
| |
12 | g.76346079C= | CA2047353151 | BBS10 | c.1906G= (p.Ala636=)
| |
12 | g.76346079C>G | CA385809089 | BBS10 | c.1906G>C (p.Ala636Pro)
| |
12 | g.76346079C>T | CA385809093 | BBS10 | c.1906G>A (p.Ala636Thr)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.76346080A>C | CA385809100 | BBS10 | c.1905T>G (p.Asn635Lys)
| |
12 | g.76346080A>G | CA481011164 | BBS10 | c.1905T>C (p.Asn635=)
| |
12 | g.76346080A>T | CA385809102 | BBS10 | c.1905T>A (p.Asn635Lys)
| |
12 | g.76346080_76346095del | CA2831039014 | BBS10 | c.1890_1905del (p.Ser630ArgfsTer4)
| |
12 | g.76346081T>A | CA385809103 | BBS10 | c.1904A>T (p.Asn635Ile)
| |
12 | g.76346081T>C | CA6694087 | BBS10 | c.1904A>G (p.Asn635Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.76346081T>G | CA385809109 | BBS10 | c.1904A>C (p.Asn635Thr)
| |
12 | g.76346081T= | CA2047353152 | BBS10 | c.1904A= (p.Asn635=)
| |
12 | g.76346082T>A | CA385809113 | BBS10 | c.1903A>T (p.Asn635Tyr)
| |
12 | g.76346082T>C | CA385809119 | BBS10 | c.1903A>G (p.Asn635Asp)
| dbSNP |
12 | g.76346082T>G | CA385809116 | BBS10 | c.1903A>C (p.Asn635His)
| |
12 | g.76346082T= | CA2047353153 | BBS10 | c.1903A= (p.Asn635=)
| |
12 | g.76346083A>C | CA481011168 | BBS10 | c.1902T>G (p.Ala634=)
| |
12 | g.76346083A>G | CA481011170 | BBS10 | c.1902T>C (p.Ala634=)
| |
12 | g.76346083A>T | CA481011171 | BBS10 | c.1902T>A (p.Ala634=)
| |
12 | g.76346084G>A | CA239331554 | BBS10 | c.1901C>T (p.Ala634Val)
| dbSNP |
12 | g.76346084G>C | CA385809125 | BBS10 | c.1901C>G (p.Ala634Gly)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.76346084G= | CA2047353154 | BBS10 | c.1901C= (p.Ala634=)
| |
12 | g.76346084G>T | CA385809123 | BBS10 | c.1901C>A (p.Ala634Asp)
| |
12 | g.76346085C>A | CA385809128 | BBS10 | c.1900G>T (p.Ala634Ser)
| dbSNP |
12 | g.76346085C= | CA2047353155 | BBS10 | c.1900G= (p.Ala634=)
| |
12 | g.76346085C>G | CA385809130 | BBS10 | c.1900G>C (p.Ala634Pro)
| |
12 | g.76346085C>T | CA385809133 | BBS10 | c.1900G>A (p.Ala634Thr)
| dbSNP |
12 | g.76346086T>A | CA481011181 | BBS10 | c.1899A>T (p.Ile633=)
| ClinVar |
12 | g.76346086T>C | CA385809136 | BBS10 | c.1899A>G (p.Ile633Met)
| gnomAD v4 |
12 | g.76346086T>G | CA481011182 | BBS10 | c.1899A>C (p.Ile633=)
| |
12 | g.76346087A>C | CA385809141 | BBS10 | c.1898T>G (p.Ile633Arg)
| |
12 | g.76346087A>G | CA385809144 | BBS10 | c.1898T>C (p.Ile633Thr)
| |
12 | g.76346087A>T | CA385809147 | BBS10 | c.1898T>A (p.Ile633Lys)
| |
12 | g.76346088T>A | CA385809151 | BBS10 | c.1897A>T (p.Ile633Leu)
| |
12 | g.76346088T>C | CA385809152 | BBS10 | c.1897A>G (p.Ile633Val)
| |
12 | g.76346088T>G | CA385809153 | BBS10 | c.1897A>C (p.Ile633Leu)
| |
12 | g.76346088_76346093delinsTTATCA | CA2047353156 | BBS10 | c.1892_1897delinsTGATAA (p.Met631=)
| |
12 | g.76346089T>A | CA481011191 | BBS10 | c.1896A>T (p.Ile632=)
| |
12 | g.76346089T>C | CA385809154 | BBS10 | c.1896A>G (p.Ile632Met)
| ClinVar |
12 | g.76346089T>G | CA481011190 | BBS10 | c.1896A>C (p.Ile632=)
| |
12 | g.76346091_76346095del | CA691952349 | BBS10 | c.1892_1896del (p.Met631AsnfsTer3)
| ClinVar dbSNP |
12 | g.76346090A= | CA2047353157 | BBS10 | c.1895T= (p.Ile632=)
| |
12 | g.76346090A>C | CA385809157 | BBS10 | c.1895T>G (p.Ile632Arg)
| |
12 | g.76346090A>G | CA239331557 | BBS10 | c.1895T>C (p.Ile632Thr)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.76346090A>T | CA385809156 | BBS10 | c.1895T>A (p.Ile632Lys)
| |
12 | g.76346091T>A | CA385809160 | BBS10 | c.1894A>T (p.Ile632Leu)
| |
12 | g.76346091T>C | CA385809167 | BBS10 | c.1894A>G (p.Ile632Val)
| |
12 | g.76346091T>G | CA385809171 | BBS10 | c.1894A>C (p.Ile632Leu)
| |
12 | g.76346092C>A | CA385809174 | BBS10 | c.1893G>T (p.Met631Ile)
| dbSNP gnomAD v4 |
12 | g.76346092C= | CA2047353158 | BBS10 | c.1893G= (p.Met631=)
| |
12 | g.76346092C>G | CA6694088 | BBS10 | c.1893G>C (p.Met631Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76346092C>T | CA385809179 | BBS10 | c.1893G>A (p.Met631Ile)
| dbSNP |
12 | g.76346092_76346096del | CA2695217031 | BBS10 | c.1889_1893del (p.Ser630AsnfsTer4)
| |
12 | g.76346093A= | CA2047353159 | BBS10 | c.1892T= (p.Met631=)
| |
12 | g.76346093A>C | CA385809182 | BBS10 | c.1892T>G (p.Met631Arg)
| |
12 | g.76346093A>G | CA385809185 | BBS10 | c.1892T>C (p.Met631Thr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76346093A>T | CA385809187 | BBS10 | c.1892T>A (p.Met631Lys)
| |
12 | g.76346094T>A | CA385809189 | BBS10 | c.1891A>T (p.Met631Leu)
| gnomAD v4 |
12 | g.76346094T>C | CA385809192 | BBS10 | c.1891A>G (p.Met631Val)
| ClinVar dbSNP gnomAD v4 |
12 | g.76346094T>G | CA385809195 | BBS10 | c.1891A>C (p.Met631Leu)
| |
12 | g.76346094T= | CA2047353160 | BBS10 | c.1891A= (p.Met631=)
| |
12 | g.76346094dup | CA2619945588 | BBS10 | c.1891dup (p.Met631AsnfsTer5)
| gnomAD v4 |
12 | g.76346095A>C | CA385809202 | BBS10 | c.1890T>G (p.Ser630Arg)
| |
12 | g.76346095A>G | CA481011203 | BBS10 | c.1890T>C (p.Ser630=)
| |
12 | g.76346095A>T | CA385809199 | BBS10 | c.1890T>A (p.Ser630Arg)
| |
12 | g.76346096C>A | CA385809205 | BBS10 | c.1889G>T (p.Ser630Ile)
| |
12 | g.76346096C= | CA2047353161 | BBS10 | c.1889G= (p.Ser630=)
| |
12 | g.76346096C>G | CA385809209 | BBS10 | c.1889G>C (p.Ser630Thr)
| gnomAD v4 |
12 | g.76346096C>T | CA385809210 | BBS10 | c.1889G>A (p.Ser630Asn)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.76346097T>A | CA385809213 | BBS10 | c.1888A>T (p.Ser630Cys)
| |
12 | g.76346097T>C | CA385809216 | BBS10 | c.1888A>G (p.Ser630Gly)
| gnomAD v4 |
12 | g.76346097T>G | CA385809220 | BBS10 | c.1888A>C (p.Ser630Arg)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.76346097T= | CA2047353162 | BBS10 | c.1888A= (p.Ser630=)
| |
12 | g.76346098A>C | CA481010598 | BBS10 | c.1887T>G (p.Val629=)
| |
12 | g.76346098A>G | CA481010599 | BBS10 | c.1887T>C (p.Val629=)
| |
12 | g.76346098A>T | CA481010600 | BBS10 | c.1887T>A (p.Val629=)
| gnomAD v4 |
12 | g.76346099A>C | CA385809223 | BBS10 | c.1886T>G (p.Val629Gly)
| |
12 | g.76346099A>G | CA385809226 | BBS10 | c.1886T>C (p.Val629Ala)
| |
12 | g.76346099A>T | CA385809229 | BBS10 | c.1886T>A (p.Val629Asp)
| |
12 | g.76346100C>A | CA385809232 | BBS10 | c.1885G>T (p.Val629Phe)
| |
12 | g.76346100C= | CA2047353163 | BBS10 | c.1885G= (p.Val629=)
| |
12 | g.76346100C>G | CA6694089 | BBS10 | c.1885G>C (p.Val629Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.76346100C>T | CA385809235 | BBS10 | c.1885G>A (p.Val629Ile)
| |
12 | g.76346101C>A | CA385809242 | BBS10 | c.1884G>T (p.Met628Ile)
| |
12 | g.76346101C>G | CA385809245 | BBS10 | c.1884G>C (p.Met628Ile)
| |
12 | g.76346101C>T | CA385809241 | BBS10 | c.1884G>A (p.Met628Ile)
| |
12 | g.76346102A>C | CA385809249 | BBS10 | c.1883T>G (p.Met628Arg)
| |
12 | g.76346102A>G | CA385809251 | BBS10 | c.1883T>C (p.Met628Thr)
| gnomAD v4 |
12 | g.76346102A>T | CA385809252 | BBS10 | c.1883T>A (p.Met628Lys)
| |
12 | g.76346103T>A | CA385809256 | BBS10 | c.1882A>T (p.Met628Leu)
| |
12 | g.76346103T>C | CA6694090 | BBS10 | c.1882A>G (p.Met628Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76346103T>G | CA385809266 | BBS10 | c.1882A>C (p.Met628Leu)
| |
12 | g.76346103T= | CA2047353164 | BBS10 | c.1882A= (p.Met628=)
| |
12 | g.76346104G>A | CA481010609 | BBS10 | c.1881C>T (p.Thr627=)
| |
12 | g.76346104G>C | CA481010613 | BBS10 | c.1881C>G (p.Thr627=)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.76346104G= | CA2047353165 | BBS10 | c.1881C= (p.Thr627=)
| |
12 | g.76346104G>T | CA481010622 | BBS10 | c.1881C>A (p.Thr627=)
| |
12 | g.76346105G>A | CA385809270 | BBS10 | c.1880C>T (p.Thr627Ile)
| |
12 | g.76346105G>C | CA385809275 | BBS10 | c.1880C>G (p.Thr627Ser)
| |
12 | g.76346105G= | CA2047353166 | BBS10 | c.1880C= (p.Thr627=)
| |
12 | g.76346105G>T | CA385809273 | BBS10 | c.1880C>A (p.Thr627Asn)
| dbSNP gnomAD v2 |
12 | g.76346106T>A | CA385809278 | BBS10 | c.1879A>T (p.Thr627Ser)
| |
12 | g.76346106T>C | CA385809281 | BBS10 | c.1879A>G (p.Thr627Ala)
| |
12 | g.76346106T>G | CA385809284 | BBS10 | c.1879A>C (p.Thr627Pro)
| |
12 | g.76346107T>A | CA385809287 | BBS10 | c.1878A>T (p.Glu626Asp)
| |
12 | g.76346107T>C | CA481010632 | BBS10 | c.1878A>G (p.Glu626=)
| |
12 | g.76346107T>G | CA385809290 | BBS10 | c.1878A>C (p.Glu626Asp)
| |
12 | g.76346108T>A | CA385809297 | BBS10 | c.1877A>T (p.Glu626Val)
| |
12 | g.76346108T>C | CA385809300 | BBS10 | c.1877A>G (p.Glu626Gly)
| |
12 | g.76346108T>G | CA385809294 | BBS10 | c.1877A>C (p.Glu626Ala)
| |
12 | g.76346109C>A | CA385809303 | BBS10 | c.1876G>T (p.Glu626Ter)
| |
12 | g.76346109C>G | CA385809307 | BBS10 | c.1876G>C (p.Glu626Gln)
| |
12 | g.76346109C>T | CA385809305 | BBS10 | c.1876G>A (p.Glu626Lys)
| gnomAD v4 |
12 | g.76346110T>A | CA385809311 | BBS10 | c.1875A>T (p.Glu625Asp)
| gnomAD v4 |
12 | g.76346110T>C | CA481010642 | BBS10 | c.1875A>G (p.Glu625=)
| gnomAD v4 |
12 | g.76346110T>G | CA385809314 | BBS10 | c.1875A>C (p.Glu625Asp)
| |
12 | g.76346111T>A | CA385809315 | BBS10 | c.1874A>T (p.Glu625Val)
| |
12 | g.76346111T>C | CA385809318 | BBS10 | c.1874A>G (p.Glu625Gly)
| gnomAD v4 |
12 | g.76346111T>G | CA385809327 | BBS10 | c.1874A>C (p.Glu625Ala)
| |
12 | g.76346112C>A | CA385809331 | BBS10 | c.1873G>T (p.Glu625Ter)
| |
12 | g.76346112C>G | CA385809333 | BBS10 | c.1873G>C (p.Glu625Gln)
| |
12 | g.76346112C>T | CA385809336 | BBS10 | c.1873G>A (p.Glu625Lys)
| |
12 | g.76346113T>A | CA481010647 | BBS10 | c.1872A>T (p.Ser624=)
| |
12 | g.76346113T>C | CA481010653 | BBS10 | c.1872A>G (p.Ser624=)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.76346113T>G | CA481010655 | BBS10 | c.1872A>C (p.Ser624=)
| |
12 | g.76346113T= | CA2047353167 | BBS10 | c.1872A= (p.Ser624=)
| |
12 | g.76346114G>A | CA385809339 | BBS10 | c.1871C>T (p.Ser624Leu)
| ClinVar dbSNP |
12 | g.76346114G>C | CA6694091 | BBS10 | c.1871C>G (p.Ser624Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.76346114G= | CA2047353168 | BBS10 | c.1871C= (p.Ser624=)
| |
12 | g.76346114G>T | CA385809343 | BBS10 | c.1871C>A (p.Ser624Ter)
| |
12 | g.76346115A>C | CA385809363 | BBS10 | c.1870T>G (p.Ser624Ala)
| |
12 | g.76346115A>G | CA385809366 | BBS10 | c.1870T>C (p.Ser624Pro)
| |
12 | g.76346115A>T | CA385809369 | BBS10 | c.1870T>A (p.Ser624Thr)
| |
12 | g.76346116T>A | CA385809375 | BBS10 | c.1869A>T (p.Gln623His)
| |
12 | g.76346116T>C | CA481010685 | BBS10 | c.1869A>G (p.Gln623=)
| ClinVar gnomAD v4 |
12 | g.76346116T>G | CA385809373 | BBS10 | c.1869A>C (p.Gln623His)
| |
12 | g.76346117T>A | CA385809381 | BBS10 | c.1868A>T (p.Gln623Leu)
| |
12 | g.76346117T>C | CA385809386 | BBS10 | c.1868A>G (p.Gln623Arg)
| dbSNP |
12 | g.76346117T>G | CA385809391 | BBS10 | c.1868A>C (p.Gln623Pro)
| |
12 | g.76346117T= | CA2047353169 | BBS10 | c.1868A= (p.Gln623=)
| |
12 | g.76346118G>A | CA385809396 | BBS10 | c.1867C>T (p.Gln623Ter)
| |
12 | g.76346118G>C | CA385809399 | BBS10 | c.1867C>G (p.Gln623Glu)
| |
12 | g.76346118G>T | CA385809402 | BBS10 | c.1867C>A (p.Gln623Lys)
| gnomAD v4 |
12 | g.76346119A= | CA2047353170 | BBS10 | c.1866T= (p.His622=)
| |
12 | g.76346119A>C | CA385809406 | BBS10 | c.1866T>G (p.His622Gln)
| |
12 | g.76346119A>G | CA481010699 | BBS10 | c.1866T>C (p.His622=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76346119A>T | CA385809409 | BBS10 | c.1866T>A (p.His622Gln)
| |
12 | g.76346119_76346129delinsATGGCATTTTT | CA2047353171 | BBS10 | c.1856_1866delinsAAAAATGCCAT (p.Lys619=)
| |
12 | g.76346120T>A | CA385809419 | BBS10 | c.1865A>T (p.His622Leu)
| |
12 | g.76346120T>C | CA385809421 | BBS10 | c.1865A>G (p.His622Arg)
| ClinVar dbSNP gnomAD v4 |
12 | g.76346120T>G | CA385809423 | BBS10 | c.1865A>C (p.His622Pro)
| |
12 | g.76346120T= | CA2047353172 | BBS10 | c.1865A= (p.His622=)
| |
12 | g.76346126_76346135del | CA356963 | BBS10 | c.1856_1865del (p.Lys619IlefsTer10)
| ClinVar dbSNP |
12 | g.76346121G>A | CA6694092 | BBS10 | c.1864C>T (p.His622Tyr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.76346121G>C | CA385809435 | BBS10 | c.1864C>G (p.His622Asp)
| |
12 | g.76346121G= | CA2047353173 | BBS10 | c.1864C= (p.His622=)
| |
12 | g.76346121G>T | CA385809432 | BBS10 | c.1864C>A (p.His622Asn)
| dbSNP |
12 | g.76346122G>A | CA481010706 | BBS10 | c.1863C>T (p.Cys621=)
| dbSNP |
12 | g.76346122G>C | CA385809441 | BBS10 | c.1863C>G (p.Cys621Trp)
| |
12 | g.76346122G= | CA2047353174 | BBS10 | c.1863C= (p.Cys621=)
| |
12 | g.76346122G>T | CA385809443 | BBS10 | c.1863C>A (p.Cys621Ter)
| |
12 | g.76346123C>A | CA385809447 | BBS10 | c.1862G>T (p.Cys621Phe)
| |
12 | g.76346123C>G | CA385809450 | BBS10 | c.1862G>C (p.Cys621Ser)
| |
12 | g.76346123C>T | CA385809453 | BBS10 | c.1862G>A (p.Cys621Tyr)
| |
12 | g.76346124A>C | CA385809456 | BBS10 | c.1861T>G (p.Cys621Gly)
| |
12 | g.76346124A>G | CA385809457 | BBS10 | c.1861T>C (p.Cys621Arg)
| |
12 | g.76346124A>T | CA385809461 | BBS10 | c.1861T>A (p.Cys621Ser)
| |
12 | g.76346125T>A | CA385809464 | BBS10 | c.1860A>T (p.Lys620Asn)
| |
12 | g.76346125T>C | CA481010725 | BBS10 | c.1860A>G (p.Lys620=)
| |
12 | g.76346125T>G | CA6694093 | BBS10 | c.1860A>C (p.Lys620Asn)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.76346125T= | CA2047353175 | BBS10 | c.1860A= (p.Lys620=)
| |
12 | g.76346130dup | CA2695199108 | BBS10 | c.1860dup (p.Cys621MetfsTer10)
| ClinVar |
12 | g.76346130del | CA481010722 | BBS10 | c.1860del (p.Lys620AsnfsTer12)
| gnomAD v4 COSMIC |
12 | g.76346126T>A | CA385809469 | BBS10 | c.1859A>T (p.Lys620Ile)
| COSMIC |
12 | g.76346126T>C | CA385809472 | BBS10 | c.1859A>G (p.Lys620Arg)
| |
12 | g.76346126T>G | CA6694094 | BBS10 | c.1859A>C (p.Lys620Thr)
| dbSNP ExAC gnomAD v2 |
12 | g.76346126T= | CA2047353176 | BBS10 | c.1859A= (p.Lys620=)
| |
12 | g.76346127T>A | CA385809478 | BBS10 | c.1858A>T (p.Lys620Ter)
| |
12 | g.76346127T>C | CA385809484 | BBS10 | c.1858A>G (p.Lys620Glu)
| |
12 | g.76346127T>G | CA385809481 | BBS10 | c.1858A>C (p.Lys620Gln)
| |
12 | g.76346128T>A | CA385809486 | BBS10 | c.1857A>T (p.Lys619Asn)
| |
12 | g.76346128T>C | CA481010727 | BBS10 | c.1857A>G (p.Lys619=)
| |
12 | g.76346128T>G | CA385809489 | BBS10 | c.1857A>C (p.Lys619Asn)
| gnomAD v4 |
12 | g.76346129T>A | CA385809501 | BBS10 | c.1856A>T (p.Lys619Ile)
| |
12 | g.76346129T>C | CA385809504 | BBS10 | c.1856A>G (p.Lys619Arg)
| ClinVar dbSNP gnomAD v4 |
12 | g.76346129T>G | CA385809506 | BBS10 | c.1856A>C (p.Lys619Thr)
| |
12 | g.76346129T= | CA2047353177 | BBS10 | c.1856A= (p.Lys619=)
| |
12 | g.76346130T>A | CA385809510 | BBS10 | c.1855A>T (p.Lys619Ter)
| |
12 | g.76346130T>C | CA385809513 | BBS10 | c.1855A>G (p.Lys619Glu)
| |
12 | g.76346130T>G | CA385809516 | BBS10 | c.1855A>C (p.Lys619Gln)
| |
12 | g.76346131G>A | CA481010739 | BBS10 | c.1854C>T (p.Ala618=)
| ClinVar dbSNP gnomAD v4 |
12 | g.76346131G>C | CA481010741 | BBS10 | c.1854C>G (p.Ala618=)
| |
12 | g.76346131G>T | CA481010744 | BBS10 | c.1854C>A (p.Ala618=)
| |
12 | g.76346132G>A | CA385809519 | BBS10 | c.1853C>T (p.Ala618Val)
| |
12 | g.76346132G>C | CA385809522 | BBS10 | c.1853C>G (p.Ala618Gly)
| |
12 | g.76346132G>T | CA385809525 | BBS10 | c.1853C>A (p.Ala618Asp)
| |
12 | g.76346133C>A | CA385809534 | BBS10 | c.1852G>T (p.Ala618Ser)
| |
12 | g.76346133C>G | CA385809531 | BBS10 | c.1852G>C (p.Ala618Pro)
| |
12 | g.76346133C>T | CA385809529 | BBS10 | c.1852G>A (p.Ala618Thr)
| |
12 | g.76346134A>C | CA385809540 | BBS10 | c.1851T>G (p.Tyr617Ter)
| |
12 | g.76346134A>G | CA481010749 | BBS10 | c.1851T>C (p.Tyr617=)
| ClinVar gnomAD v4 |
12 | g.76346134A>T | CA385809537 | BBS10 | c.1851T>A (p.Tyr617Ter)
| |
12 | g.76346135T>A | CA385809549 | BBS10 | c.1850A>T (p.Tyr617Phe)
| |
12 | g.76346135T>C | CA6694095 | BBS10 | c.1850A>G (p.Tyr617Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.76346135T>G | CA385809547 | BBS10 | c.1850A>C (p.Tyr617Ser)
| |
12 | g.76346135T= | CA2047353178 | BBS10 | c.1850A= (p.Tyr617=)
| |
12 | g.76346136A>C | CA385809552 | BBS10 | c.1849T>G (p.Tyr617Asp)
| |
12 | g.76346136A>G | CA385809555 | BBS10 | c.1849T>C (p.Tyr617His)
| |
12 | g.76346136A>T | CA385809558 | BBS10 | c.1849T>A (p.Tyr617Asn)
| |
12 | g.76346137A= | CA2047353179 | BBS10 | c.1848T= (p.Asn616=)
| |
12 | g.76346137A>C | CA385809561 | BBS10 | c.1848T>G (p.Asn616Lys)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.76346137A>G | CA481010757 | BBS10 | c.1848T>C (p.Asn616=)
| gnomAD v4 |
12 | g.76346137A>T | CA385809563 | BBS10 | c.1848T>A (p.Asn616Lys)
| |
12 | g.76346138T>A | CA385809566 | BBS10 | c.1847A>T (p.Asn616Ile)
| |
12 | g.76346138T>C | CA6694096 | BBS10 | c.1847A>G (p.Asn616Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76346138T>G | CA385809570 | BBS10 | c.1847A>C (p.Asn616Thr)
| |
12 | g.76346138T= | CA2047353180 | BBS10 | c.1847A= (p.Asn616=)
| |
12 | g.76346139T>A | CA385809575 | BBS10 | c.1846A>T (p.Asn616Tyr)
| |
12 | g.76346139T>C | CA385809578 | BBS10 | c.1846A>G (p.Asn616Asp)
| |
12 | g.76346139T>G | CA6694097 | BBS10 | c.1846A>C (p.Asn616His)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.76346139T= | CA2047353181 | BBS10 | c.1846A= (p.Asn616=)
| |
12 | g.76346140G>A | CA481010766 | BBS10 | c.1845C>T (p.Leu615=)
| |
12 | g.76346140G>C | CA481010767 | BBS10 | c.1845C>G (p.Leu615=)
| |
12 | g.76346140G>T | CA481010764 | BBS10 | c.1845C>A (p.Leu615=)
| gnomAD v4 |
12 | g.76346140_76346142del | CA2619945589 | BBS10 | c.1843_1845del (p.Leu615del)
| gnomAD v4 |
12 | g.76346141A>C | CA385809588 | BBS10 | c.1844T>G (p.Leu615Arg)
| |
12 | g.76346141A>G | CA385809582 | BBS10 | c.1844T>C (p.Leu615Pro)
| |
12 | g.76346141A>T | CA385809585 | BBS10 | c.1844T>A (p.Leu615His)
| |
12 | g.76346142G>A | CA385809591 | BBS10 | c.1843C>T (p.Leu615Phe)
| |
12 | g.76346142G>C | CA385809592 | BBS10 | c.1843C>G (p.Leu615Val)
| |
12 | g.76346142G>T | CA385809594 | BBS10 | c.1843C>A (p.Leu615Ile)
| |
12 | g.76346143A>C | CA481010776 | BBS10 | c.1842T>G (p.Leu614=)
| |
12 | g.76346143A>G | CA481010774 | BBS10 | c.1842T>C (p.Leu614=)
| |
12 | g.76346143A>T | CA481010775 | BBS10 | c.1842T>A (p.Leu614=)
| |
12 | g.76346144A>C | CA385809598 | BBS10 | c.1841T>G (p.Leu614Arg)
| |
12 | g.76346144A>G | CA385809601 | BBS10 | c.1841T>C (p.Leu614Pro)
| |
12 | g.76346144A>T | CA385809604 | BBS10 | c.1841T>A (p.Leu614His)
| |
12 | g.76346145G>A | CA385809607 | BBS10 | c.1840C>T (p.Leu614Phe)
| |
12 | g.76346145G>C | CA385809618 | BBS10 | c.1840C>G (p.Leu614Val)
| |
12 | g.76346145G>T | CA385809621 | BBS10 | c.1840C>A (p.Leu614Ile)
| |
12 | g.76346146A= | CA2047353182 | BBS10 | c.1839T= (p.Tyr613=)
| |
12 | g.76346146A>C | CA385809625 | BBS10 | c.1839T>G (p.Tyr613Ter)
| |
12 | g.76346146A>G | CA481010791 | BBS10 | c.1839T>C (p.Tyr613=)
| |
12 | g.76346146A>T | CA385809627 | BBS10 | c.1839T>A (p.Tyr613Ter)
| ClinVar dbSNP |
12 | g.76346147T>A | CA385809633 | BBS10 | c.1838A>T (p.Tyr613Phe)
| |
12 | g.76346147T>C | CA241802 | BBS10 | c.1838A>G (p.Tyr613Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76346147T>G | CA385809630 | BBS10 | c.1838A>C (p.Tyr613Ser)
| |
12 | g.76346147T= | CA2047353183 | BBS10 | c.1838A= (p.Tyr613=)
| |
12 | g.76346148A= | CA2047353184 | BBS10 | c.1837T= (p.Tyr613=)
| |
12 | g.76346148A>C | CA385809638 | BBS10 | c.1837T>G (p.Tyr613Asp)
| gnomAD v4 |
12 | g.76346148A>G | CA6694098 | BBS10 | c.1837T>C (p.Tyr613His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76346148A>T | CA385809643 | BBS10 | c.1837T>A (p.Tyr613Asn)
| |
12 | g.76346149G>A | CA481010797 | BBS10 | c.1836C>T (p.Tyr612=)
| |
12 | g.76346149G>C | CA385809646 | BBS10 | c.1836C>G (p.Tyr612Ter)
| |
12 | g.76346149G>T | CA385809649 | BBS10 | c.1836C>A (p.Tyr612Ter)
| |
12 | g.76346150T>A | CA385809653 | BBS10 | c.1835A>T (p.Tyr612Phe)
| |
12 | g.76346150T>C | CA385809655 | BBS10 | c.1835A>G (p.Tyr612Cys)
| gnomAD v4 |
12 | g.76346150T>G | CA385809659 | BBS10 | c.1835A>C (p.Tyr612Ser)
| |
12 | g.76346151A>C | CA385809666 | BBS10 | c.1834T>G (p.Tyr612Asp)
| |
12 | g.76346151A>G | CA385809671 | BBS10 | c.1834T>C (p.Tyr612His)
| |
12 | g.76346151A>T | CA385809675 | BBS10 | c.1834T>A (p.Tyr612Asn)
| |
12 | g.76346152del | CA2573148986 | BBS10 | c.1834del (p.Tyr612ThrfsTer20)
| ClinVar dbSNP |
12 | g.76346152A>C | CA385809678 | BBS10 | c.1833T>G (p.His611Gln)
| |
12 | g.76346152A>G | CA481010816 | BBS10 | c.1833T>C (p.His611=)
| |
12 | g.76346152A>T | CA385809681 | BBS10 | c.1833T>A (p.His611Gln)
| |
12 | g.76346153T>A | CA385809691 | BBS10 | c.1832A>T (p.His611Leu)
| |
12 | g.76346153T>C | CA385809685 | BBS10 | c.1832A>G (p.His611Arg)
| dbSNP |
12 | g.76346153T>G | CA385809688 | BBS10 | c.1832A>C (p.His611Pro)
| |
12 | g.76346153T= | CA2047353185 | BBS10 | c.1832A= (p.His611=)
| |
12 | g.76346154G>A | CA385809694 | BBS10 | c.1831C>T (p.His611Tyr)
| |
12 | g.76346154G>C | CA385809696 | BBS10 | c.1831C>G (p.His611Asp)
| gnomAD v4 |
12 | g.76346154G>T | CA385809698 | BBS10 | c.1831C>A (p.His611Asn)
| |
12 | g.76346155T>A | CA385809703 | BBS10 | c.1830A>T (p.Leu610Phe)
| |
12 | g.76346155T>C | CA481010825 | BBS10 | c.1830A>G (p.Leu610=)
| |
12 | g.76346155T>G | CA385809706 | BBS10 | c.1830A>C (p.Leu610Phe)
| |
12 | g.76346155_76346156insTT | CA2619945590 | BBS10 | c.1830_1831insAA (p.His611AsnfsTer22)
| gnomAD v4 |
12 | g.76346156A= | CA2047353186 | BBS10 | c.1829T= (p.Leu610=)
| |
12 | g.76346156A>C | CA385809712 | BBS10 | c.1829T>G (p.Leu610Ter)
| ClinVar dbSNP gnomAD v4 |
12 | g.76346156A>G | CA385809715 | BBS10 | c.1829T>C (p.Leu610Ser)
| |
12 | g.76346156A>T | CA385809718 | BBS10 | c.1829T>A (p.Leu610Ter)
| |
12 | g.76346157A>C | CA385809721 | BBS10 | c.1828T>G (p.Leu610Val)
| gnomAD v4 |
12 | g.76346157A>G | CA481010834 | BBS10 | c.1828T>C (p.Leu610=)
| ClinVar |
12 | g.76346157A>T | CA385809724 | BBS10 | c.1828T>A (p.Leu610Ile)
| |
12 | g.76346158C>A | CA6694099 | BBS10 | c.1827G>T (p.Leu609Phe)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76346158C= | CA2047353187 | BBS10 | c.1827G= (p.Leu609=)
| |
12 | g.76346158C>G | CA385809730 | BBS10 | c.1827G>C (p.Leu609Phe)
| |
12 | g.76346158C>T | CA481010837 | BBS10 | c.1827G>A (p.Leu609=)
| ClinVar dbSNP gnomAD v4 |
12 | g.76346159A= | CA2047353188 | BBS10 | c.1826T= (p.Leu609=)
| |
12 | g.76346159A>C | CA385809737 | BBS10 | c.1826T>G (p.Leu609Trp)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.76346159A>G | CA385809740 | BBS10 | c.1826T>C (p.Leu609Ser)
| ClinVar gnomAD v4 |
12 | g.76346159A>T | CA385809735 | BBS10 | c.1826T>A (p.Leu609Ter)
| |
12 | g.76346160A>C | CA385809743 | BBS10 | c.1825T>G (p.Leu609Val)
| |
12 | g.76346160A>G | CA481010845 | BBS10 | c.1825T>C (p.Leu609=)
| ClinVar dbSNP gnomAD v4 |
12 | g.76346160A>T | CA385809746 | BBS10 | c.1825T>A (p.Leu609Met)
| |
12 | g.76346161G>A | CA6694100 | BBS10 | c.1824C>T (p.Ile608=)
| ClinVar dbSNP ExAC gnomAD v2 |
12 | g.76346161G>C | CA385809750 | BBS10 | c.1824C>G (p.Ile608Met)
| |
12 | g.76346161G= | CA2047353189 | BBS10 | c.1824C= (p.Ile608=)
| |
12 | g.76346161G>T | CA481010849 | BBS10 | c.1824C>A (p.Ile608=)
| gnomAD v4 |
12 | g.76346162A>C | CA385809754 | BBS10 | c.1823T>G (p.Ile608Ser)
| |
12 | g.76346162A>G | CA385809756 | BBS10 | c.1823T>C (p.Ile608Thr)
| |
12 | g.76346162A>T | CA385809759 | BBS10 | c.1823T>A (p.Ile608Asn)
| gnomAD v4 |
12 | g.76346163T>A | CA385809762 | BBS10 | c.1822A>T (p.Ile608Phe)
| |
12 | g.76346163T>C | CA16606610 | BBS10 | c.1822A>G (p.Ile608Val)
| ClinVar dbSNP gnomAD v4 |
12 | g.76346163T>G | CA385809767 | BBS10 | c.1822A>C (p.Ile608Leu)
| |
12 | g.76346163T= | CA2047353190 | BBS10 | c.1822A= (p.Ile608=)
| |
12 | g.76346164C>A | CA239331605 | BBS10 | c.1821G>T (p.Glu607Asp)
| dbSNP |
12 | g.76346164C= | CA2047353191 | BBS10 | c.1821G= (p.Glu607=)
| |
12 | g.76346164C>G | CA385809773 | BBS10 | c.1821G>C (p.Glu607Asp)
| |
12 | g.76346164C>T | CA481010860 | BBS10 | c.1821G>A (p.Glu607=)
| |
12 | g.76346165T>A | CA385809776 | BBS10 | c.1820A>T (p.Glu607Val)
| |
12 | g.76346165T>C | CA385809778 | BBS10 | c.1820A>G (p.Glu607Gly)
| |
12 | g.76346165T>G | CA385809782 | BBS10 | c.1820A>C (p.Glu607Ala)
| |
12 | g.76346166C>A | CA385809795 | BBS10 | c.1819G>T (p.Glu607Ter)
| |
12 | g.76346166C>G | CA385809790 | BBS10 | c.1819G>C (p.Glu607Gln)
| |
12 | g.76346166C>T | CA385809787 | BBS10 | c.1819G>A (p.Glu607Lys)
| |
12 | g.76346167A>C | CA385809799 | BBS10 | c.1818T>G (p.Phe606Leu)
| |
12 | g.76346167A>G | CA481010868 | BBS10 | c.1818T>C (p.Phe606=)
| |
12 | g.76346167A>T | CA385809802 | BBS10 | c.1818T>A (p.Phe606Leu)
| |
12 | g.76346168A>C | CA385809806 | BBS10 | c.1817T>G (p.Phe606Cys)
| |
12 | g.76346168A>G | CA385809808 | BBS10 | c.1817T>C (p.Phe606Ser)
| |
12 | g.76346168A>T | CA385809812 | BBS10 | c.1817T>A (p.Phe606Tyr)
| |
12 | g.76346169A>C | CA385809817 | BBS10 | c.1816T>G (p.Phe606Val)
| |
12 | g.76346169A>G | CA385809819 | BBS10 | c.1816T>C (p.Phe606Leu)
| |
12 | g.76346169A>T | CA385809826 | BBS10 | c.1816T>A (p.Phe606Ile)
| |
12 | g.76346170A>C | CA385809828 | BBS10 | c.1815T>G (p.Asn605Lys)
| |
12 | g.76346170A>G | CA481010875 | BBS10 | c.1815T>C (p.Asn605=)
| gnomAD v4 |
12 | g.76346170A>T | CA385809831 | BBS10 | c.1815T>A (p.Asn605Lys)
| |
12 | g.76346170_76346171del | CA2573148987 | BBS10 | c.1814_1815del (p.Asn605IlefsTer2)
| ClinVar dbSNP |
12 | g.76346171T>A | CA385809832 | BBS10 | c.1814A>T (p.Asn605Ile)
| |
12 | g.76346171T>C | CA385809833 | BBS10 | c.1814A>G (p.Asn605Ser)
| |
12 | g.76346171T>G | CA385809834 | BBS10 | c.1814A>C (p.Asn605Thr)
| |