12 | g.76347140T>A | CA385813917 | BBS10 | c.845A>T (p.Gln282Leu)
| |
12 | g.76347140T>C | CA385813919 | BBS10 | c.845A>G (p.Gln282Arg)
| |
12 | g.76347140T>G | CA385813918 | BBS10 | c.845A>C (p.Gln282Pro)
| |
12 | g.76347142_76347143del | CA2575230731 | BBS10 | c.844_845del (p.Gln282ValfsTer21)
| ClinVar gnomAD v4 |
12 | g.76347141G>A | CA385813920 | BBS10 | c.844C>T (p.Gln282Ter)
| |
12 | g.76347141G>C | CA385813921 | BBS10 | c.844C>G (p.Gln282Glu)
| |
12 | g.76347141G>T | CA385813922 | BBS10 | c.844C>A (p.Gln282Lys)
| gnomAD v4 |
12 | g.76347142T>A | CA481011449 | BBS10 | c.843A>T (p.Ala281=)
| |
12 | g.76347142T>C | CA481011450 | BBS10 | c.843A>G (p.Ala281=)
| |
12 | g.76347142T>G | CA481011451 | BBS10 | c.843A>C (p.Ala281=)
| ClinVar |
12 | g.76347143G>A | CA385813923 | BBS10 | c.842C>T (p.Ala281Val)
| |
12 | g.76347143G>C | CA385813924 | BBS10 | c.842C>G (p.Ala281Gly)
| |
12 | g.76347143G>T | CA385813925 | BBS10 | c.842C>A (p.Ala281Glu)
| |
12 | g.76347144C>A | CA385813926 | BBS10 | c.841G>T (p.Ala281Ser)
| |
12 | g.76347144C= | CA2047353638 | BBS10 | c.841G= (p.Ala281=)
| |
12 | g.76347144C>G | CA385813927 | BBS10 | c.841G>C (p.Ala281Pro)
| |
12 | g.76347144C>T | CA6694276 | BBS10 | c.841G>A (p.Ala281Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76347145T>A | CA385813928 | BBS10 | c.840A>T (p.Glu280Asp)
| |
12 | g.76347145T>C | CA6694277 | BBS10 | c.840A>G (p.Glu280=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76347145T>G | CA385813929 | BBS10 | c.840A>C (p.Glu280Asp)
| |
12 | g.76347145T= | CA2047353639 | BBS10 | c.840A= (p.Glu280=)
| |
12 | g.76347146T>A | CA385813932 | BBS10 | c.839A>T (p.Glu280Val)
| |
12 | g.76347146T>C | CA385813930 | BBS10 | c.839A>G (p.Glu280Gly)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.76347146T>G | CA385813931 | BBS10 | c.839A>C (p.Glu280Ala)
| |
12 | g.76347146T= | CA2047353640 | BBS10 | c.839A= (p.Glu280=)
| |
12 | g.76347147C>A | CA385813933 | BBS10 | c.838G>T (p.Glu280Ter)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.76347147C= | CA2047353641 | BBS10 | c.838G= (p.Glu280=)
| |
12 | g.76347147C>G | CA385813934 | BBS10 | c.838G>C (p.Glu280Gln)
| |
12 | g.76347147C>T | CA385813935 | BBS10 | c.838G>A (p.Glu280Lys)
| gnomAD v4 |
12 | g.76347148T>A | CA481011456 | BBS10 | c.837A>T (p.Ser279=)
| |
12 | g.76347148T>C | CA481011457 | BBS10 | c.837A>G (p.Ser279=)
| ClinVar dbSNP gnomAD v4 |
12 | g.76347148T>G | CA481011458 | BBS10 | c.837A>C (p.Ser279=)
| |
12 | g.76347149G>A | CA385813936 | BBS10 | c.836C>T (p.Ser279Leu)
| |
12 | g.76347149G>C | CA385813938 | BBS10 | c.836C>G (p.Ser279Ter)
| gnomAD v4 |
12 | g.76347149G>T | CA385813939 | BBS10 | c.836C>A (p.Ser279Ter)
| gnomAD v4 |
12 | g.76347150A>C | CA385813942 | BBS10 | c.835T>G (p.Ser279Ala)
| |
12 | g.76347150A>G | CA385813943 | BBS10 | c.835T>C (p.Ser279Pro)
| |
12 | g.76347150A>T | CA385813944 | BBS10 | c.835T>A (p.Ser279Thr)
| |
12 | g.76347151A>C | CA385813947 | BBS10 | c.834T>G (p.Asn278Lys)
| |
12 | g.76347151A>G | CA481011460 | BBS10 | c.834T>C (p.Asn278=)
| |
12 | g.76347151A>T | CA385813948 | BBS10 | c.834T>A (p.Asn278Lys)
| |
12 | g.76347152T>A | CA385813952 | BBS10 | c.833A>T (p.Asn278Ile)
| dbSNP |
12 | g.76347152T>C | CA385813951 | BBS10 | c.833A>G (p.Asn278Ser)
| |
12 | g.76347152T>G | CA385813949 | BBS10 | c.833A>C (p.Asn278Thr)
| |
12 | g.76347152T= | CA2047353642 | BBS10 | c.833A= (p.Asn278=)
| |
12 | g.76347153T>A | CA385813954 | BBS10 | c.832A>T (p.Asn278Tyr)
| |
12 | g.76347153T>C | CA385813956 | BBS10 | c.832A>G (p.Asn278Asp)
| |
12 | g.76347153T>G | CA385813957 | BBS10 | c.832A>C (p.Asn278His)
| |
12 | g.76347154T>A | CA481011466 | BBS10 | c.831A>T (p.Leu277=)
| |
12 | g.76347154T>C | CA481011465 | BBS10 | c.831A>G (p.Leu277=)
| |
12 | g.76347154T>G | CA481011464 | BBS10 | c.831A>C (p.Leu277=)
| |
12 | g.76347155A= | CA2047353643 | BBS10 | c.830T= (p.Leu277=)
| |
12 | g.76347155A>C | CA385813959 | BBS10 | c.830T>G (p.Leu277Arg)
| |
12 | g.76347155A>G | CA385813961 | BBS10 | c.830T>C (p.Leu277Pro)
| gnomAD v4 |
12 | g.76347155A>T | CA385813963 | BBS10 | c.830T>A (p.Leu277Gln)
| dbSNP |
12 | g.76347156G>A | CA481011467 | BBS10 | c.829C>T (p.Leu277=)
| |
12 | g.76347156G>C | CA385813965 | BBS10 | c.829C>G (p.Leu277Val)
| |
12 | g.76347156G>T | CA385813967 | BBS10 | c.829C>A (p.Leu277Ile)
| gnomAD v4 |
12 | g.76347157A>C | CA385813968 | BBS10 | c.828T>G (p.Ile276Met)
| |
12 | g.76347157A>G | CA481011472 | BBS10 | c.828T>C (p.Ile276=)
| |
12 | g.76347157A>T | CA481011471 | BBS10 | c.828T>A (p.Ile276=)
| |
12 | g.76347158A= | CA2047353644 | BBS10 | c.827T= (p.Ile276=)
| |
12 | g.76347158A>C | CA385813970 | BBS10 | c.827T>G (p.Ile276Ser)
| |
12 | g.76347158A>G | CA6694278 | BBS10 | c.827T>C (p.Ile276Thr)
| dbSNP ExAC gnomAD v2 |
12 | g.76347158A>T | CA385813973 | BBS10 | c.827T>A (p.Ile276Asn)
| |
12 | g.76347159T>A | CA385813977 | BBS10 | c.826A>T (p.Ile276Phe)
| |
12 | g.76347159T>C | CA385813980 | BBS10 | c.826A>G (p.Ile276Val)
| |
12 | g.76347159T>G | CA385813975 | BBS10 | c.826A>C (p.Ile276Leu)
| |
12 | g.76347160A>C | CA385813985 | BBS10 | c.825T>G (p.Phe275Leu)
| |
12 | g.76347160A>G | CA481011474 | BBS10 | c.825T>C (p.Phe275=)
| gnomAD v4 |
12 | g.76347160A>T | CA385813986 | BBS10 | c.825T>A (p.Phe275Leu)
| |
12 | g.76347161A>C | CA385813989 | BBS10 | c.824T>G (p.Phe275Cys)
| |
12 | g.76347161A>G | CA385813990 | BBS10 | c.824T>C (p.Phe275Ser)
| |
12 | g.76347161A>T | CA385813992 | BBS10 | c.824T>A (p.Phe275Tyr)
| |
12 | g.76347162A>C | CA385813996 | BBS10 | c.823T>G (p.Phe275Val)
| |
12 | g.76347162A>G | CA385813994 | BBS10 | c.823T>C (p.Phe275Leu)
| |
12 | g.76347162A>T | CA385813995 | BBS10 | c.823T>A (p.Phe275Ile)
| |
12 | g.76347163C>A | CA385813997 | BBS10 | c.822G>T (p.Glu274Asp)
| |
12 | g.76347163C>G | CA385813999 | BBS10 | c.822G>C (p.Glu274Asp)
| |
12 | g.76347163C>T | CA481011477 | BBS10 | c.822G>A (p.Glu274=)
| |
12 | g.76347165_76347166del | CA2619945596 | BBS10 | c.821_822del (p.Glu274ValfsTer29)
| gnomAD v4 |
12 | g.76347164_76347171dup | CA2695217037 | BBS10 | c.815_822dup (p.Phe275AspfsTer6)
| |
12 | g.76347164T>A | CA385814001 | BBS10 | c.821A>T (p.Glu274Val)
| |
12 | g.76347164T>C | CA385814003 | BBS10 | c.821A>G (p.Glu274Gly)
| |
12 | g.76347164T>G | CA385814005 | BBS10 | c.821A>C (p.Glu274Ala)
| |
12 | g.76347165C>A | CA385814006 | BBS10 | c.820G>T (p.Glu274Ter)
| |
12 | g.76347165C= | CA2047353645 | BBS10 | c.820G= (p.Glu274=)
| |
12 | g.76347165C>G | CA385814009 | BBS10 | c.820G>C (p.Glu274Gln)
| |
12 | g.76347165C>T | CA385814008 | BBS10 | c.820G>A (p.Glu274Lys)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.76347166T>A | CA481011478 | BBS10 | c.819A>T (p.Ser273=)
| |
12 | g.76347166T>C | CA481011479 | BBS10 | c.819A>G (p.Ser273=)
| |
12 | g.76347166T>G | CA481011480 | BBS10 | c.819A>C (p.Ser273=)
| |
12 | g.76347167G>A | CA385814011 | BBS10 | c.818C>T (p.Ser273Leu)
| |
12 | g.76347167G>C | CA385814014 | BBS10 | c.818C>G (p.Ser273Ter)
| |
12 | g.76347167G>T | CA385814013 | BBS10 | c.818C>A (p.Ser273Ter)
| |
12 | g.76347168A>C | CA385814016 | BBS10 | c.817T>G (p.Ser273Ala)
| |
12 | g.76347168A>G | CA385814020 | BBS10 | c.817T>C (p.Ser273Pro)
| |
12 | g.76347168A>T | CA385814018 | BBS10 | c.817T>A (p.Ser273Thr)
| |
12 | g.76347169T>A | CA481011481 | BBS10 | c.816A>T (p.Gly272=)
| |
12 | g.76347169T>C | CA481011482 | BBS10 | c.816A>G (p.Gly272=)
| ClinVar |
12 | g.76347169T>G | CA481011483 | BBS10 | c.816A>C (p.Gly272=)
| |
12 | g.76347170C>A | CA385814022 | BBS10 | c.815G>T (p.Gly272Val)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.76347170C= | CA2047353646 | BBS10 | c.815G= (p.Gly272=)
| |
12 | g.76347170C>G | CA6694279 | BBS10 | c.815G>C (p.Gly272Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76347170C>T | CA385814032 | BBS10 | c.815G>A (p.Gly272Glu)
| gnomAD v4 |
12 | g.76347171C>A | CA385814039 | BBS10 | c.814G>T (p.Gly272Ter)
| |
12 | g.76347171C>G | CA385814042 | BBS10 | c.814G>C (p.Gly272Arg)
| |
12 | g.76347171C>T | CA385814043 | BBS10 | c.814G>A (p.Gly272Arg)
| COSMIC |
12 | g.76347172A= | CA2047353647 | BBS10 | c.813T= (p.Ser271=)
| |
12 | g.76347172A>C | CA481011484 | BBS10 | c.813T>G (p.Ser271=)
| dbSNP |
12 | g.76347172A>G | CA481011486 | BBS10 | c.813T>C (p.Ser271=)
| ClinVar |
12 | g.76347172A>T | CA481011485 | BBS10 | c.813T>A (p.Ser271=)
| |
12 | g.76347173G>A | CA385814048 | BBS10 | c.812C>T (p.Ser271Phe)
| |
12 | g.76347173G>C | CA385814049 | BBS10 | c.812C>G (p.Ser271Cys)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.76347173G= | CA2047353648 | BBS10 | c.812C= (p.Ser271=)
| |
12 | g.76347173G>T | CA385814050 | BBS10 | c.812C>A (p.Ser271Tyr)
| |
12 | g.76347174A>C | CA385814051 | BBS10 | c.811T>G (p.Ser271Ala)
| |
12 | g.76347174A>G | CA385814052 | BBS10 | c.811T>C (p.Ser271Pro)
| |
12 | g.76347174A>T | CA385814054 | BBS10 | c.811T>A (p.Ser271Thr)
| |
12 | g.76347174_76347175del | CA2619945597 | BBS10 | c.810_811del (p.Ser271TrpfsTer?)
| gnomAD v4 |
12 | g.76347175A>C | CA481011487 | BBS10 | c.810T>G (p.Thr270=)
| |
12 | g.76347175A>G | CA481011488 | BBS10 | c.810T>C (p.Thr270=)
| |
12 | g.76347175A>T | CA481011489 | BBS10 | c.810T>A (p.Thr270=)
| |
12 | g.76347176G>A | CA385814059 | BBS10 | c.809C>T (p.Thr270Ile)
| gnomAD v4 |
12 | g.76347176G>C | CA385814058 | BBS10 | c.809C>G (p.Thr270Ser)
| |
12 | g.76347176G>T | CA385814056 | BBS10 | c.809C>A (p.Thr270Asn)
| |
12 | g.76347177T>A | CA385814061 | BBS10 | c.808A>T (p.Thr270Ser)
| |
12 | g.76347177T>C | CA6694280 | BBS10 | c.808A>G (p.Thr270Ala)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.76347177T>G | CA385814064 | BBS10 | c.808A>C (p.Thr270Pro)
| |
12 | g.76347177T= | CA2047353649 | BBS10 | c.808A= (p.Thr270=)
| |
12 | g.76347178G>A | CA481011490 | BBS10 | c.807C>T (p.Ser269=)
| |
12 | g.76347178G>C | CA481011492 | BBS10 | c.807C>G (p.Ser269=)
| |
12 | g.76347178G>T | CA481011491 | BBS10 | c.807C>A (p.Ser269=)
| |
12 | g.76347179dup | CA2695199116 | BBS10 | c.807dup (p.Thr270HisfsTer?)
| ClinVar |
12 | g.76347179G>A | CA385814066 | BBS10 | c.806C>T (p.Ser269Phe)
| |
12 | g.76347179G>C | CA385814068 | BBS10 | c.806C>G (p.Ser269Cys)
| |
12 | g.76347179G= | CA2047353650 | BBS10 | c.806C= (p.Ser269=)
| |
12 | g.76347179G>T | CA385814069 | BBS10 | c.806C>A (p.Ser269Tyr)
| |
12 | g.76347180A>C | CA385814073 | BBS10 | c.805T>G (p.Ser269Ala)
| |
12 | g.76347180A>G | CA385814074 | BBS10 | c.805T>C (p.Ser269Pro)
| |
12 | g.76347180A>T | CA385814075 | BBS10 | c.805T>A (p.Ser269Thr)
| |
12 | g.76347185dup | CA606185945 | BBS10 | c.805dup (p.Ser269PhefsTer?)
| ClinVar dbSNP gnomAD v2 |
12 | g.76347184_76347185del | CA2573053759 | BBS10 | c.804_805del (p.Ser269HisfsTer?)
| ClinVar dbSNP |
12 | g.76347181A= | CA2047353651 | BBS10 | c.804T= (p.Phe268=)
| |
12 | g.76347181A>C | CA6694281 | BBS10 | c.804T>G (p.Phe268Leu)
| dbSNP ExAC gnomAD v2 COSMIC |
12 | g.76347181A>G | CA481011493 | BBS10 | c.804T>C (p.Phe268=)
| ClinVar dbSNP |
12 | g.76347181A>T | CA385814076 | BBS10 | c.804T>A (p.Phe268Leu)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.76347182A>C | CA385814080 | BBS10 | c.803T>G (p.Phe268Cys)
| gnomAD v4 |
12 | g.76347182A>G | CA385814082 | BBS10 | c.803T>C (p.Phe268Ser)
| |
12 | g.76347182A>T | CA385814077 | BBS10 | c.803T>A (p.Phe268Tyr)
| |
12 | g.76347183A>C | CA385814086 | BBS10 | c.802T>G (p.Phe268Val)
| |
12 | g.76347183A>G | CA385814089 | BBS10 | c.802T>C (p.Phe268Leu)
| |
12 | g.76347183A>T | CA385814092 | BBS10 | c.802T>A (p.Phe268Ile)
| |
12 | g.76347184A>C | CA481011494 | BBS10 | c.801T>G (p.Leu267=)
| ClinVar |
12 | g.76347184A>G | CA481011495 | BBS10 | c.801T>C (p.Leu267=)
| |
12 | g.76347184A>T | CA481011496 | BBS10 | c.801T>A (p.Leu267=)
| |
12 | g.76347185A= | CA2047353652 | BBS10 | c.800T= (p.Leu267=)
| |
12 | g.76347185A>C | CA385814097 | BBS10 | c.800T>G (p.Leu267Arg)
| |
12 | g.76347185A>G | CA385814099 | BBS10 | c.800T>C (p.Leu267Pro)
| dbSNP COSMIC |
12 | g.76347185A>T | CA385814102 | BBS10 | c.800T>A (p.Leu267His)
| ClinVar dbSNP |
12 | g.76347185_76347186insC | CA2619945598 | BBS10 | c.799_800insG (p.Leu267ArgfsTer?)
| gnomAD v4 |
12 | g.76347186G>A | CA385814115 | BBS10 | c.799C>T (p.Leu267Phe)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.76347186G>C | CA385814117 | BBS10 | c.799C>G (p.Leu267Val)
| |
12 | g.76347186G= | CA2047353653 | BBS10 | c.799C= (p.Leu267=)
| |
12 | g.76347186G>T | CA385814120 | BBS10 | c.799C>A (p.Leu267Ile)
| |
12 | g.76347187A>C | CA481011499 | BBS10 | c.798T>G (p.Pro266=)
| |
12 | g.76347187A>G | CA481011497 | BBS10 | c.798T>C (p.Pro266=)
| |
12 | g.76347187A>T | CA481011498 | BBS10 | c.798T>A (p.Pro266=)
| |
12 | g.76347188G>A | CA6694282 | BBS10 | c.797C>T (p.Pro266Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.76347188G>C | CA385814123 | BBS10 | c.797C>G (p.Pro266Arg)
| |
12 | g.76347188G= | CA2047353654 | BBS10 | c.797C= (p.Pro266=)
| |
12 | g.76347188G>T | CA385814124 | BBS10 | c.797C>A (p.Pro266His)
| |
12 | g.76347189G>A | CA385814131 | BBS10 | c.796C>T (p.Pro266Ser)
| |
12 | g.76347189G>C | CA6694283 | BBS10 | c.796C>G (p.Pro266Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.76347189G= | CA2047353655 | BBS10 | c.796C= (p.Pro266=)
| |
12 | g.76347189G>T | CA385814128 | BBS10 | c.796C>A (p.Pro266Thr)
| gnomAD v4 |
12 | g.76347190_76347196del | CA2619945599 | BBS10 | c.790_796del (p.Ile264LeufsTer12)
| gnomAD v4 |
12 | g.76347190C>A | CA385814142 | BBS10 | c.795G>T (p.Gln265His)
| |
12 | g.76347190C>G | CA385814145 | BBS10 | c.795G>C (p.Gln265His)
| |
12 | g.76347190C>T | CA481011500 | BBS10 | c.795G>A (p.Gln265=)
| |
12 | g.76347190_76347194delinsCTGAA | CA2047353656 | BBS10 | c.791_795delinsTTCAG (p.Ile264=)
| |
12 | g.76347191T>A | CA385814148 | BBS10 | c.794A>T (p.Gln265Leu)
| |
12 | g.76347191T>C | CA385814151 | BBS10 | c.794A>G (p.Gln265Arg)
| |
12 | g.76347191T>G | CA6694284 | BBS10 | c.794A>C (p.Gln265Pro)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76347191T= | CA2047353658 | BBS10 | c.794A= (p.Gln265=)
| |
12 | g.76347193_76347196del | CA2047353657 | BBS10 | c.791_794del (p.Ile264SerfsTer13)
| dbSNP gnomAD v4 |
12 | g.76347192G>A | CA239332225 | BBS10 | c.793C>T (p.Gln265Ter)
| ClinVar dbSNP |
12 | g.76347192G>C | CA6694285 | BBS10 | c.793C>G (p.Gln265Glu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.76347192G= | CA2047353659 | BBS10 | c.793C= (p.Gln265=)
| |
12 | g.76347192G>T | CA385814157 | BBS10 | c.793C>A (p.Gln265Lys)
| |
12 | g.76347193A>C | CA385814169 | BBS10 | c.792T>G (p.Ile264Met)
| |
12 | g.76347193A>G | CA481011501 | BBS10 | c.792T>C (p.Ile264=)
| |
12 | g.76347193A>T | CA481011502 | BBS10 | c.792T>A (p.Ile264=)
| |
12 | g.76347194A= | CA2047353660 | BBS10 | c.791T= (p.Ile264=)
| |
12 | g.76347194A>C | CA385814172 | BBS10 | c.791T>G (p.Ile264Ser)
| ClinVar dbSNP COSMIC |
12 | g.76347194A>G | CA385814175 | BBS10 | c.791T>C (p.Ile264Thr)
| |
12 | g.76347194A>T | CA385814178 | BBS10 | c.791T>A (p.Ile264Asn)
| |
12 | g.76347195T>A | CA385814186 | BBS10 | c.790A>T (p.Ile264Phe)
| |
12 | g.76347195T>C | CA385814188 | BBS10 | c.790A>G (p.Ile264Val)
| |
12 | g.76347195T>G | CA385814180 | BBS10 | c.790A>C (p.Ile264Leu)
| |
12 | g.76347196G>A | CA481011503 | BBS10 | c.789C>T (p.Thr263=)
| |
12 | g.76347196G>C | CA481011504 | BBS10 | c.789C>G (p.Thr263=)
| |
12 | g.76347196G>T | CA481011505 | BBS10 | c.789C>A (p.Thr263=)
| |
12 | g.76347196_76347197insTAAA | CA2551758807 | BBS10 | c.788_789insTTTA (p.Ile264LeufsTer?)
| |
12 | g.76347197G>A | CA6694286 | BBS10 | c.788C>T (p.Thr263Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.76347197G>C | CA385814191 | BBS10 | c.788C>G (p.Thr263Ser)
| |
12 | g.76347197G= | CA2047353661 | BBS10 | c.788C= (p.Thr263=)
| |
12 | g.76347197G>T | CA385814194 | BBS10 | c.788C>A (p.Thr263Asn)
| |
12 | g.76347198T>A | CA385814198 | BBS10 | c.787A>T (p.Thr263Ser)
| |
12 | g.76347198T>C | CA385814201 | BBS10 | c.787A>G (p.Thr263Ala)
| |
12 | g.76347198T>G | CA385814203 | BBS10 | c.787A>C (p.Thr263Pro)
| |
12 | g.76347199T>A | CA385814205 | BBS10 | c.786A>T (p.Glu262Asp)
| |
12 | g.76347199T>C | CA481011506 | BBS10 | c.786A>G (p.Glu262=)
| |
12 | g.76347199T>G | CA385814208 | BBS10 | c.786A>C (p.Glu262Asp)
| |
12 | g.76347199_76347201delinsTTC | CA2047353662 | BBS10 | c.784_786delinsGAA (p.Glu262=)
| |
12 | g.76347200_76347202del | CA912974172 | BBS10 | c.784_786del (p.Glu262del)
| |
12 | g.76347200T>A | CA385814212 | BBS10 | c.785A>T (p.Glu262Val)
| |
12 | g.76347200T>C | CA385814215 | BBS10 | c.785A>G (p.Glu262Gly)
| |
12 | g.76347200T>G | CA385814216 | BBS10 | c.785A>C (p.Glu262Ala)
| gnomAD v4 |
12 | g.76347201_76347202del | CA658823432 | BBS10 | c.784_785del (p.Glu262AsnfsTer?)
| ClinVar dbSNP |
12 | g.76347201C>A | CA385814217 | BBS10 | c.784G>T (p.Glu262Ter)
| |
12 | g.76347201C>G | CA385814219 | BBS10 | c.784G>C (p.Glu262Gln)
| |
12 | g.76347201C>T | CA385814220 | BBS10 | c.784G>A (p.Glu262Lys)
| gnomAD v4 |
12 | g.76347202T>A | CA481011507 | BBS10 | c.783A>T (p.Thr261=)
| |
12 | g.76347202T>C | CA6694287 | BBS10 | c.783A>G (p.Thr261=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76347202T>G | CA481011508 | BBS10 | c.783A>C (p.Thr261=)
| |
12 | g.76347202T= | CA2047353663 | BBS10 | c.783A= (p.Thr261=)
| |
12 | g.76347203G>A | CA385814223 | BBS10 | c.782C>T (p.Thr261Ile)
| |
12 | g.76347203G>C | CA385814225 | BBS10 | c.782C>G (p.Thr261Arg)
| |
12 | g.76347203G>T | CA385814226 | BBS10 | c.782C>A (p.Thr261Lys)
| |
12 | g.76347204T>A | CA385814228 | BBS10 | c.781A>T (p.Thr261Ser)
| |
12 | g.76347204T>C | CA385814230 | BBS10 | c.781A>G (p.Thr261Ala)
| |
12 | g.76347204T>G | CA385814238 | BBS10 | c.781A>C (p.Thr261Pro)
| |
12 | g.76347205T>A | CA481011509 | BBS10 | c.780A>T (p.Val260=)
| |
12 | g.76347205T>C | CA481011510 | BBS10 | c.780A>G (p.Val260=)
| dbSNP |
12 | g.76347205T>G | CA481011511 | BBS10 | c.780A>C (p.Val260=)
| |
12 | g.76347205T= | CA2047353664 | BBS10 | c.780A= (p.Val260=)
| |
12 | g.76347206A>C | CA385814241 | BBS10 | c.779T>G (p.Val260Gly)
| |
12 | g.76347206A>G | CA385814242 | BBS10 | c.779T>C (p.Val260Ala)
| |
12 | g.76347206A>T | CA385814243 | BBS10 | c.779T>A (p.Val260Glu)
| |
12 | g.76347207C>A | CA385814244 | BBS10 | c.778G>T (p.Val260Leu)
| gnomAD v4 |
12 | g.76347207C= | CA2047353665 | BBS10 | c.778G= (p.Val260=)
| |
12 | g.76347207C>G | CA385814246 | BBS10 | c.778G>C (p.Val260Leu)
| |
12 | g.76347207C>T | CA385814247 | BBS10 | c.778G>A (p.Val260Ile)
| dbSNP gnomAD v4 |
12 | g.76347208T>A | CA481011513 | BBS10 | c.777A>T (p.Ile259=)
| |
12 | g.76347208T>C | CA385814249 | BBS10 | c.777A>G (p.Ile259Met)
| gnomAD v4 |
12 | g.76347208T>G | CA481011512 | BBS10 | c.777A>C (p.Ile259=)
| |
12 | g.76347209A>C | CA385814255 | BBS10 | c.776T>G (p.Ile259Arg)
| |
12 | g.76347209A>G | CA385814256 | BBS10 | c.776T>C (p.Ile259Thr)
| |
12 | g.76347209A>T | CA385814254 | BBS10 | c.776T>A (p.Ile259Lys)
| |
12 | g.76347210T>A | CA385814257 | BBS10 | c.775A>T (p.Ile259Leu)
| |
12 | g.76347210T>C | CA385814258 | BBS10 | c.775A>G (p.Ile259Val)
| gnomAD v4 |
12 | g.76347210T>G | CA385814260 | BBS10 | c.775A>C (p.Ile259Leu)
| |
12 | g.76347211C>A | CA481011514 | BBS10 | c.774G>T (p.Val258=)
| |
12 | g.76347211C>G | CA481011515 | BBS10 | c.774G>C (p.Val258=)
| gnomAD v4 |
12 | g.76347211C>T | CA481011516 | BBS10 | c.774G>A (p.Val258=)
| |
12 | g.76347212del | CA2619945601 | BBS10 | c.773del (p.Val258GlyfsTer2)
| gnomAD v4 |
12 | g.76347212A= | CA2047353666 | BBS10 | c.773T= (p.Val258=)
| |
12 | g.76347212A>C | CA385814263 | BBS10 | c.773T>G (p.Val258Gly)
| |
12 | g.76347212A>G | CA385814265 | BBS10 | c.773T>C (p.Val258Ala)
| dbSNP |
12 | g.76347212A>T | CA385814268 | BBS10 | c.773T>A (p.Val258Glu)
| |
12 | g.76347213C>A | CA385814271 | BBS10 | c.772G>T (p.Val258Leu)
| |
12 | g.76347213C= | CA2047353667 | BBS10 | c.772G= (p.Val258=)
| |
12 | g.76347213C>G | CA385814273 | BBS10 | c.772G>C (p.Val258Leu)
| |
12 | g.76347213C>T | CA385814275 | BBS10 | c.772G>A (p.Val258Met)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.76347214C>A | CA385814279 | BBS10 | c.771G>T (p.Met257Ile)
| |
12 | g.76347214C= | CA2047353668 | BBS10 | c.771G= (p.Met257=)
| |
12 | g.76347214C>G | CA385814281 | BBS10 | c.771G>C (p.Met257Ile)
| |
12 | g.76347214C>T | CA239332229 | BBS10 | c.771G>A (p.Met257Ile)
| dbSNP |
12 | g.76347215A= | CA2047353669 | BBS10 | c.770T= (p.Met257=)
| |
12 | g.76347215A>C | CA385814294 | BBS10 | c.770T>G (p.Met257Arg)
| |
12 | g.76347215A>G | CA385814302 | BBS10 | c.770T>C (p.Met257Thr)
| |
12 | g.76347215A>T | CA385814291 | BBS10 | c.770T>A (p.Met257Lys)
| dbSNP |
12 | g.76347216T>A | CA385814306 | BBS10 | c.769A>T (p.Met257Leu)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.76347216T>C | CA6694288 | BBS10 | c.769A>G (p.Met257Val)
| dbSNP ExAC gnomAD v2 |
12 | g.76347216T>G | CA385814310 | BBS10 | c.769A>C (p.Met257Leu)
| |
12 | g.76347216T= | CA2047353670 | BBS10 | c.769A= (p.Met257=)
| |
12 | g.76347217T>A | CA481011517 | BBS10 | c.768A>T (p.Arg256=)
| |
12 | g.76347217T>C | CA481011518 | BBS10 | c.768A>G (p.Arg256=)
| |
12 | g.76347217T>G | CA481011519 | BBS10 | c.768A>C (p.Arg256=)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.76347217T= | CA2047353671 | BBS10 | c.768A= (p.Arg256=)
| |
12 | g.76347218C>A | CA6694289 | BBS10 | c.767G>T (p.Arg256Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76347218C= | CA2047353672 | BBS10 | c.767G= (p.Arg256=)
| |
12 | g.76347218C>G | CA385814314 | BBS10 | c.767G>C (p.Arg256Pro)
| dbSNP |
12 | g.76347218C>T | CA385814315 | BBS10 | c.767G>A (p.Arg256Gln)
| gnomAD v4 |
12 | g.76347219G>A | CA501144 | BBS10 | c.766C>T (p.Arg256Ter)
| ClinVar dbSNP COSMIC |
12 | g.76347219G>C | CA385814320 | BBS10 | c.766C>G (p.Arg256Gly)
| dbSNP |
12 | g.76347219G= | CA2047353673 | BBS10 | c.766C= (p.Arg256=)
| |
12 | g.76347219G>T | CA481011520 | BBS10 | c.766C>A (p.Arg256=)
| |
12 | g.76347220C>A | CA385814323 | BBS10 | c.765G>T (p.Met255Ile)
| |
12 | g.76347220C= | CA2047353674 | BBS10 | c.765G= (p.Met255=)
| |
12 | g.76347220C>G | CA385814325 | BBS10 | c.765G>C (p.Met255Ile)
| |
12 | g.76347220C>T | CA6694290 | BBS10 | c.765G>A (p.Met255Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76347221A= | CA2047353675 | BBS10 | c.764T= (p.Met255=)
| |
12 | g.76347221A>C | CA385814330 | BBS10 | c.764T>G (p.Met255Arg)
| |
12 | g.76347221A>G | CA385814331 | BBS10 | c.764T>C (p.Met255Thr)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.76347221A>T | CA385814332 | BBS10 | c.764T>A (p.Met255Lys)
| |
12 | g.76347222T>A | CA385814348 | BBS10 | c.763A>T (p.Met255Leu)
| |
12 | g.76347222T>C | CA6694291 | BBS10 | c.763A>G (p.Met255Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76347222T>G | CA385814335 | BBS10 | c.763A>C (p.Met255Leu)
| |
12 | g.76347222T= | CA2047353676 | BBS10 | c.763A= (p.Met255=)
| |
12 | g.76347223G>A | CA481011521 | BBS10 | c.762C>T (p.Asp254=)
| ClinVar dbSNP gnomAD v4 |
12 | g.76347223G>C | CA385814356 | BBS10 | c.762C>G (p.Asp254Glu)
| |
12 | g.76347223G>T | CA385814358 | BBS10 | c.762C>A (p.Asp254Glu)
| |
12 | g.76347224T>A | CA385814361 | BBS10 | c.761A>T (p.Asp254Val)
| |
12 | g.76347224T>C | CA385814363 | BBS10 | c.761A>G (p.Asp254Gly)
| COSMIC |
12 | g.76347224T>G | CA385814367 | BBS10 | c.761A>C (p.Asp254Ala)
| |
12 | g.76347225C>A | CA385814371 | BBS10 | c.760G>T (p.Asp254Tyr)
| |
12 | g.76347225C>G | CA385814373 | BBS10 | c.760G>C (p.Asp254His)
| |
12 | g.76347225C>T | CA385814374 | BBS10 | c.760G>A (p.Asp254Asn)
| |
12 | g.76347226A>C | CA481011522 | BBS10 | c.759T>G (p.Gly253=)
| |
12 | g.76347226A>G | CA481011523 | BBS10 | c.759T>C (p.Gly253=)
| |
12 | g.76347226A>T | CA481011524 | BBS10 | c.759T>A (p.Gly253=)
| |
12 | g.76347226_76347227delinsAC | CA2047353677 | BBS10 | c.758_759delinsGT (p.Gly253=)
| |
12 | g.76347227C>A | CA385814380 | BBS10 | c.758G>T (p.Gly253Val)
| |
12 | g.76347227C= | CA2047353678 | BBS10 | c.758G= (p.Gly253=)
| |
12 | g.76347227C>G | CA385814383 | BBS10 | c.758G>C (p.Gly253Ala)
| |
12 | g.76347227C>T | CA385814385 | BBS10 | c.758G>A (p.Gly253Asp)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76347228del | CA6694292 | BBS10 | c.758del (p.Gly253ValfsTer6)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.76347228C>A | CA385814388 | BBS10 | c.757G>T (p.Gly253Cys)
| |
12 | g.76347228C= | CA2047353679 | BBS10 | c.757G= (p.Gly253=)
| |
12 | g.76347228C>G | CA385814391 | BBS10 | c.757G>C (p.Gly253Arg)
| |
12 | g.76347228C>T | CA385814392 | BBS10 | c.757G>A (p.Gly253Ser)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.76347229A= | CA2047353680 | BBS10 | c.756T= (p.Asp252=)
| |
12 | g.76347229A>C | CA385814411 | BBS10 | c.756T>G (p.Asp252Glu)
| |
12 | g.76347229A>G | CA6694293 | BBS10 | c.756T>C (p.Asp252=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.76347229A>T | CA385814396 | BBS10 | c.756T>A (p.Asp252Glu)
| |
12 | g.76347230T>A | CA385814415 | BBS10 | c.755A>T (p.Asp252Val)
| |
12 | g.76347230T>C | CA385814417 | BBS10 | c.755A>G (p.Asp252Gly)
| gnomAD v4 |
12 | g.76347230T>G | CA385814419 | BBS10 | c.755A>C (p.Asp252Ala)
| |
12 | g.76347231C>A | CA385814422 | BBS10 | c.754G>T (p.Asp252Tyr)
| |
12 | g.76347231C>G | CA385814425 | BBS10 | c.754G>C (p.Asp252His)
| |
12 | g.76347231C>T | CA385814427 | BBS10 | c.754G>A (p.Asp252Asn)
| |
12 | g.76347232T>A | CA481011525 | BBS10 | c.753A>T (p.Ala251=)
| |
12 | g.76347232T>C | CA6694294 | BBS10 | c.753A>G (p.Ala251=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76347232T>G | CA481011526 | BBS10 | c.753A>C (p.Ala251=)
| |
12 | g.76347232T= | CA2047353681 | BBS10 | c.753A= (p.Ala251=)
| |
12 | g.76347233G>A | CA6694295 | BBS10 | c.752C>T (p.Ala251Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76347233G>C | CA385814432 | BBS10 | c.752C>G (p.Ala251Gly)
| |
12 | g.76347233G= | CA2047353682 | BBS10 | c.752C= (p.Ala251=)
| |
12 | g.76347233G>T | CA385814435 | BBS10 | c.752C>A (p.Ala251Glu)
| ClinVar gnomAD v4 |
12 | g.76347234C>A | CA385814437 | BBS10 | c.751G>T (p.Ala251Ser)
| |
12 | g.76347234C>G | CA385814438 | BBS10 | c.751G>C (p.Ala251Pro)
| |
12 | g.76347234C>T | CA385814440 | BBS10 | c.751G>A (p.Ala251Thr)
| |
12 | g.76347235T>A | CA481011527 | BBS10 | c.750A>T (p.Pro250=)
| |
12 | g.76347235T>C | CA481011529 | BBS10 | c.750A>G (p.Pro250=)
| ClinVar dbSNP gnomAD v4 |
12 | g.76347235T>G | CA481011528 | BBS10 | c.750A>C (p.Pro250=)
| |
12 | g.76347236G>A | CA385814444 | BBS10 | c.749C>T (p.Pro250Leu)
| gnomAD v4 |
12 | g.76347236G>C | CA385814447 | BBS10 | c.749C>G (p.Pro250Arg)
| |
12 | g.76347236G>T | CA385814442 | BBS10 | c.749C>A (p.Pro250Gln)
| |
12 | g.76347237G>A | CA385814450 | BBS10 | c.748C>T (p.Pro250Ser)
| dbSNP |
12 | g.76347237G>C | CA385814451 | BBS10 | c.748C>G (p.Pro250Ala)
| |
12 | g.76347237G>T | CA385814454 | BBS10 | c.748C>A (p.Pro250Thr)
| |
12 | g.76347238G>A | CA481011530 | BBS10 | c.747C>T (p.Arg249=)
| |
12 | g.76347238G>C | CA481011531 | BBS10 | c.747C>G (p.Arg249=)
| |
12 | g.76347238G>T | CA481011532 | BBS10 | c.747C>A (p.Arg249=)
| |
12 | g.76347239C>A | CA385814459 | BBS10 | c.746G>T (p.Arg249Leu)
| |
12 | g.76347239C= | CA2047353683 | BBS10 | c.746G= (p.Arg249=)
| |
12 | g.76347239C>G | CA385814461 | BBS10 | c.746G>C (p.Arg249Pro)
| |
12 | g.76347239C>T | CA385814464 | BBS10 | c.746G>A (p.Arg249His)
| gnomAD v4 COSMIC |
12 | g.76347239_76347240insTA | CA658823433 | BBS10 | c.745_746insTA (p.Arg249LeufsTer11)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.76347240G>A | CA385814468 | BBS10 | c.745C>T (p.Arg249Cys)
| ClinVar dbSNP gnomAD v4 |
12 | g.76347240G>C | CA385814469 | BBS10 | c.745C>G (p.Arg249Gly)
| |
12 | g.76347240G= | CA2047353684 | BBS10 | c.745C= (p.Arg249=)
| |
12 | g.76347240G>T | CA385814470 | BBS10 | c.745C>A (p.Arg249Ser)
| COSMIC |