12 | g.76345728A>C | CA2619945543 | BBS10 | c.*85T>G (n.*85T>G)
| gnomAD v4 |
12 | g.76345730C>A | CA2796591350 | BBS10 | c.*83G>T (n.*83G>T)
| |
12 | g.76345731T>C | CA2619945544 | BBS10 | c.*82A>G (n.*82A>G)
| gnomAD v4 |
12 | g.76345732G>C | CA606185880 | BBS10 | c.*81C>G (n.*81C>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76345732G= | CA2047353003 | BBS10 | c.*81C= (n.*81C=)
| |
12 | g.76345732G>T | CA2619945545 | BBS10 | c.*81C>A (n.*81C>A)
| gnomAD v4 |
12 | g.76345733A= | CA2047353004 | BBS10 | c.*80T= (n.*80T=)
| |
12 | g.76345733A>C | CA2599466265 | BBS10 | c.*80T>G (n.*80T>G)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.76345733A>G | CA239331369 | BBS10 | c.*80T>C (n.*80T>C)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.76345734C>A | CA2619945546 | BBS10 | c.*79G>T (n.*79G>T)
| gnomAD v4 |
12 | g.76345735T>C | CA2575230715 | BBS10 | c.*78A>G (n.*78A>G)
| gnomAD v4 |
12 | g.76345737del | CA2575230714 | BBS10 | c.*78del (n.*78del)
| gnomAD v4 |
12 | g.76345739G>A | CA2508810828 | BBS10 | c.*74C>T (n.*74C>T)
| |
12 | g.76345739G>T | CA2619945547 | BBS10 | c.*74C>A (n.*74C>A)
| gnomAD v4 |
12 | g.76345740A= | CA2047353005 | BBS10 | c.*73T= (n.*73T=)
| |
12 | g.76345740A>T | CA2047353006 | BBS10 | c.*73T>A (n.*73T>A)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.76345742C>T | CA2619945548 | BBS10 | c.*71G>A (n.*71G>A)
| gnomAD v4 |
12 | g.76345743C>A | CA2619945549 | BBS10 | c.*70G>T (n.*70G>T)
| gnomAD v4 |
12 | g.76345743C= | CA2047353008 | BBS10 | c.*70G= (n.*70G=)
| |
12 | g.76345743C>G | CA2047353007 | BBS10 | c.*70G>C (n.*70G>C)
| dbSNP |
12 | g.76345744A>C | CA2619945550 | BBS10 | c.*69T>G (n.*69T>G)
| gnomAD v4 |
12 | g.76345745G>C | CA949387498 | BBS10 | c.*68C>G (n.*68C>G)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.76345745G= | CA2047353009 | BBS10 | c.*68C= (n.*68C=)
| |
12 | g.76345746T>C | CA2047353011 | BBS10 | c.*67A>G (n.*67A>G)
| dbSNP gnomAD v4 |
12 | g.76345746T= | CA2047353010 | BBS10 | c.*67A= (n.*67A=)
| |
12 | g.76345747G>T | CA2575230717 | BBS10 | c.*66C>A (n.*66C>A)
| gnomAD v4 |
12 | g.76345748del | CA2575230716 | BBS10 | c.*66del (n.*66del)
| gnomAD v4 |
12 | g.76345748G>A | CA2619945552 | BBS10 | c.*65C>T (n.*65C>T)
| gnomAD v4 |
12 | g.76345748G>T | CA2619945551 | BBS10 | c.*65C>A (n.*65C>A)
| gnomAD v4 |
12 | g.76345749T>C | CA2575230718 | BBS10 | c.*64A>G (n.*64A>G)
| |
12 | g.76345750C>A | CA2619945553 | BBS10 | c.*63G>T (n.*63G>T)
| gnomAD v4 |
12 | g.76345751A>T | CA2619945554 | BBS10 | c.*62T>A (n.*62T>A)
| gnomAD v4 |
12 | g.76345752C>T | CA2619945555 | BBS10 | c.*61G>A (n.*61G>A)
| gnomAD v4 |
12 | g.76345753A>G | CA2619945557 | BBS10 | c.*60T>C (n.*60T>C)
| gnomAD v4 |
12 | g.76345753_76345754del | CA2619945556 | BBS10 | c.*59_*60del (n.*59_*60del)
| gnomAD v4 |
12 | g.76345754T>A | CA2619945558 | BBS10 | c.*59A>T (n.*59A>T)
| gnomAD v4 |
12 | g.76345755G>A | CA949387501 | BBS10 | c.*58C>T (n.*58C>T)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.76345755G= | CA2047353012 | BBS10 | c.*58C= (n.*58C=)
| |
12 | g.76345755G>T | CA2619945559 | BBS10 | c.*58C>A (n.*58C>A)
| gnomAD v4 |
12 | g.76345757del | CA2726584257 | BBS10 | c.*56del (n.*56del)
| dbSNP |
12 | g.76345757C>T | CA2575230719 | BBS10 | c.*56G>A (n.*56G>A)
| |
12 | g.76345758T>C | CA2619945560 | BBS10 | c.*55A>G (n.*55A>G)
| gnomAD v4 |
12 | g.76345759G>T | CA2619945561 | BBS10 | c.*54C>A (n.*54C>A)
| gnomAD v4 |
12 | g.76345760C>T | CA2796591351 | BBS10 | c.*53G>A (n.*53G>A)
| |
12 | g.76345761T>C | CA2619945562 | BBS10 | c.*52A>G (n.*52A>G)
| gnomAD v4 |
12 | g.76345762T>C | CA606185881 | BBS10 | c.*51A>G (n.*51A>G)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.76345762T= | CA2047353013 | BBS10 | c.*51A= (n.*51A=)
| |
12 | g.76345764A= | CA2047353014 | BBS10 | c.*49T= (n.*49T=)
| |
12 | g.76345764A>G | CA2047353015 | BBS10 | c.*49T>C (n.*49T>C)
| dbSNP |
12 | g.76345764A>T | CA2619945563 | BBS10 | c.*49T>A (n.*49T>A)
| gnomAD v4 |
12 | g.76345765C= | CA2047353016 | BBS10 | c.*48G= (n.*48G=)
| |
12 | g.76345765C>G | CA1139662785 | BBS10 | c.*48G>C (n.*48G>C)
| ClinVar dbSNP |
12 | g.76345766T>C | CA2047353018 | BBS10 | c.*47A>G (n.*47A>G)
| dbSNP gnomAD v4 |
12 | g.76345766T= | CA2047353017 | BBS10 | c.*47A= (n.*47A=)
| |
12 | g.76345768G>A | CA2619945564 | BBS10 | c.*45C>T (n.*45C>T)
| gnomAD v4 |
12 | g.76345768G>C | CA949387509 | BBS10 | c.*45C>G (n.*45C>G)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.76345768G= | CA2047353019 | BBS10 | c.*45C= (n.*45C=)
| |
12 | g.76345768G>T | CA2575230720 | BBS10 | c.*45C>A (n.*45C>A)
| gnomAD v4 |
12 | g.76345769G>A | CA606185882 | BBS10 | c.*44C>T (n.*44C>T)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.76345769G= | CA2047353020 | BBS10 | c.*44C= (n.*44C=)
| |
12 | g.76345770C>A | CA2619945565 | BBS10 | c.*43G>T (n.*43G>T)
| gnomAD v4 |
12 | g.76345771T>A | CA691951486 | BBS10 | c.*42A>T (n.*42A>T)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.76345771T= | CA2047353021 | BBS10 | c.*42A= (n.*42A=)
| |
12 | g.76345772T>C | CA2047353023 | BBS10 | c.*41A>G (n.*41A>G)
| dbSNP |
12 | g.76345772T>G | CA2619945566 | BBS10 | c.*41A>C (n.*41A>C)
| gnomAD v4 |
12 | g.76345772T= | CA2047353022 | BBS10 | c.*41A= (n.*41A=)
| |
12 | g.76345773G>A | CA949387516 | BBS10 | c.*40C>T (n.*40C>T)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.76345773G= | CA2047353024 | BBS10 | c.*40C= (n.*40C=)
| |
12 | g.76345773G>T | CA2619945568 | BBS10 | c.*40C>A (n.*40C>A)
| gnomAD v4 |
12 | g.76345774_76345775del | CA2619945567 | BBS10 | c.*39_*40del (n.*39_*40del)
| gnomAD v4 |
12 | g.76345774A>G | CA2619945569 | BBS10 | c.*39T>C (n.*39T>C)
| gnomAD v4 |
12 | g.76345775G>T | CA2619945570 | BBS10 | c.*38C>A (n.*38C>A)
| gnomAD v4 |
12 | g.76345776T>C | CA2047353026 | BBS10 | c.*37A>G (n.*37A>G)
| dbSNP gnomAD v4 |
12 | g.76345776T= | CA2047353025 | BBS10 | c.*37A= (n.*37A=)
| |
12 | g.76345777T>C | CA2575230721 | BBS10 | c.*36A>G (n.*36A>G)
| |
12 | g.76345780A= | CA2047353027 | BBS10 | c.*33T= (n.*33T=)
| |
12 | g.76345780A>G | CA691951489 | BBS10 | c.*33T>C (n.*33T>C)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.76345781T>C | CA6694039 | BBS10 | c.*32A>G (n.*32A>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76345781T= | CA2047353028 | BBS10 | c.*32A= (n.*32A=)
| |
12 | g.76345783A>C | CA2619945571 | BBS10 | c.*30T>G (n.*30T>G)
| gnomAD v4 |
12 | g.76345785_76345786del | CA2575230722 | BBS10 | c.*29_*30del (n.*29_*30del)
| |
12 | g.76345786A= | CA2047353029 | BBS10 | c.*27T= (n.*27T=)
| |
12 | g.76345786A>C | CA606185883 | BBS10 | c.*27T>G (n.*27T>G)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.76345786A>T | CA606185884 | BBS10 | c.*27T>A (n.*27T>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76345787G>A | CA2619945572 | BBS10 | c.*26C>T (n.*26C>T)
| gnomAD v4 |
12 | g.76345787G>T | CA2619945573 | BBS10 | c.*26C>A (n.*26C>A)
| gnomAD v4 |
12 | g.76345788T>C | CA6694040 | BBS10 | c.*25A>G (n.*25A>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.76345788T= | CA2047353030 | BBS10 | c.*25A= (n.*25A=)
| |
12 | g.76345789T>G | CA2619945574 | BBS10 | c.*24A>C (n.*24A>C)
| gnomAD v4 |
12 | g.76345791G>T | CA2619945575 | BBS10 | c.*22C>A (n.*22C>A)
| gnomAD v4 |
12 | g.76345792G>A | CA949387529 | BBS10 | c.*21C>T (n.*21C>T)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.76345792G>C | CA2575230723 | BBS10 | c.*21C>G (n.*21C>G)
| |
12 | g.76345792G= | CA2047353032 | BBS10 | c.*21C= (n.*21C=)
| |
12 | g.76345792_76345795del | CA2619945576 | BBS10 | c.*18_*21del (n.*18_*21del)
| gnomAD v4 |
12 | g.76345792_76345796delinsGTTAA | CA2047353031 | BBS10 | c.*17_*21delinsTTAAC (n.*17_*21delinsTTAAC)
| |
12 | g.76345797_76345800del | CA691951503 | BBS10 | c.*17_*20del (n.*17_*20del)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.76345795A>G | CA2619945577 | BBS10 | c.*18T>C (n.*18T>C)
| gnomAD v4 |
12 | g.76345796A>C | CA2619945578 | BBS10 | c.*17T>G (n.*17T>G)
| gnomAD v4 |
12 | g.76345798T>A | CA606185885 | BBS10 | c.*15A>T (n.*15A>T)
| dbSNP gnomAD v2 |
12 | g.76345798T>G | CA606185886 | BBS10 | c.*15A>C (n.*15A>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76345798T= | CA2047353033 | BBS10 | c.*15A= (n.*15A=)
| |
12 | g.76345799A>G | CA2619945579 | BBS10 | c.*14T>C (n.*14T>C)
| gnomAD v4 |
12 | g.76345802A>G | CA2619945580 | BBS10 | c.*11T>C (n.*11T>C)
| gnomAD v4 |
12 | g.76345804C= | CA2047353035 | BBS10 | c.*9G= (n.*9G=)
| |
12 | g.76345804C>T | CA2047353036 | BBS10 | c.*9G>A (n.*9G>A)
| dbSNP |
12 | g.76345804_76345805delinsCT | CA2047353034 | BBS10 | c.*8_*9delinsAG (n.*8_*9delinsAG)
| |
12 | g.76345806del | CA6694041 | BBS10 | c.*8del (n.*8del)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76345806_76345807delinsTC | CA2047353037 | BBS10 | c.*6_*7delinsGA (n.*6_*7delinsGA)
| |
12 | g.76345807del | CA6694042 | BBS10 | c.*6del (n.*6del)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76345807C>A | CA2575230724 | BBS10 | c.*6G>T (n.*6G>T)
| |
12 | g.76345808T>C | CA2047353039 | BBS10 | c.*5A>G (n.*5A>G)
| dbSNP |
12 | g.76345808T>G | CA2575230725 | BBS10 | c.*5A>C (n.*5A>C)
| |
12 | g.76345808T= | CA2047353038 | BBS10 | c.*5A= (n.*5A=)
| |
12 | g.76345809G>A | CA6694044 | BBS10 | c.*4C>T (n.*4C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.76345809G= | CA2047353040 | BBS10 | c.*4C= (n.*4C=)
| |
12 | g.76345809G>T | CA6694043 | BBS10 | c.*4C>A (n.*4C>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76345810_76345811insGGAAAA | CA2518472747 | BBS10 | c.*3_*4insTTTCCT (n.*3_*4insTTTCCT)
| |
12 | g.76345811_76345812insCGCTTCAACCTGGGAGGCAGAG | CA2523010973 | BBS10 | c.*1_*2insCTCTGCCTCCCAGGTTGAAGCG (n.*1_*2insCTCTGCCTCCCAGGTTGAAGCG)
| |
12 | g.76345812G>C | CA2619945581 | BBS10 | c.*1C>G (n.*1C>G)
| gnomAD v4 |
12 | g.76345813T>A | CA385808142 | BBS10 | c.2172A>T (p.Ter724Tyr)
| |
12 | g.76345813T>C | CA481010538 | BBS10 | c.2172A>G (p.Ter724=)
| |
12 | g.76345813T>G | CA385808143 | BBS10 | c.2172A>C (p.Ter724Tyr)
| |
12 | g.76345814T>A | CA385808145 | BBS10 | c.2171A>T (p.Ter724Leu)
| |
12 | g.76345814T>C | CA481010541 | BBS10 | c.2171A>G (p.Ter724=)
| |
12 | g.76345814T>G | CA385808144 | BBS10 | c.2171A>C (p.Ter724Ser)
| |
12 | g.76345815A>C | CA385808146 | BBS10 | c.2170T>G (p.Ter724Glu)
| |
12 | g.76345815A>G | CA385808147 | BBS10 | c.2170T>C (p.Ter724Gln)
| |
12 | g.76345815A>T | CA385808148 | BBS10 | c.2170T>A (p.Ter724Lys)
| |
12 | g.76345816T>A | CA481010546 | BBS10 | c.2169A>T (p.Leu723=)
| |
12 | g.76345816T>C | CA481010547 | BBS10 | c.2169A>G (p.Leu723=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.76345816T>G | CA481010548 | BBS10 | c.2169A>C (p.Leu723=)
| |
12 | g.76345816T= | CA2047353041 | BBS10 | c.2169A= (p.Leu723=)
| |
12 | g.76345817A>C | CA385808149 | BBS10 | c.2168T>G (p.Leu723Arg)
| |
12 | g.76345817A>G | CA385808150 | BBS10 | c.2168T>C (p.Leu723Pro)
| |
12 | g.76345817A>T | CA385808151 | BBS10 | c.2168T>A (p.Leu723Gln)
| |
12 | g.76345818G>A | CA481010550 | BBS10 | c.2167C>T (p.Leu723=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.76345818G>C | CA239331396 | BBS10 | c.2167C>G (p.Leu723Val)
| ClinVar dbSNP gnomAD v4 |
12 | g.76345818G= | CA2047353042 | BBS10 | c.2167C= (p.Leu723=)
| |
12 | g.76345818G>T | CA385808152 | BBS10 | c.2167C>A (p.Leu723Ile)
| |
12 | g.76345819T>A | CA385808153 | BBS10 | c.2166A>T (p.Glu722Asp)
| |
12 | g.76345819T>C | CA6694045 | BBS10 | c.2166A>G (p.Glu722=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.76345819T>G | CA385808154 | BBS10 | c.2166A>C (p.Glu722Asp)
| |
12 | g.76345819T= | CA2047353043 | BBS10 | c.2166A= (p.Glu722=)
| |
12 | g.76345820T>A | CA385808155 | BBS10 | c.2165A>T (p.Glu722Val)
| |
12 | g.76345820T>C | CA385808156 | BBS10 | c.2165A>G (p.Glu722Gly)
| gnomAD v4 |
12 | g.76345820T>G | CA385808157 | BBS10 | c.2165A>C (p.Glu722Ala)
| |
12 | g.76345821C>A | CA385808160 | BBS10 | c.2164G>T (p.Glu722Ter)
| gnomAD v4 |
12 | g.76345821C>G | CA385808158 | BBS10 | c.2164G>C (p.Glu722Gln)
| |
12 | g.76345821C>T | CA385808159 | BBS10 | c.2164G>A (p.Glu722Lys)
| |
12 | g.76345822A>C | CA385808161 | BBS10 | c.2163T>G (p.Asp721Glu)
| |
12 | g.76345822A>G | CA481010562 | BBS10 | c.2163T>C (p.Asp721=)
| |
12 | g.76345822A>T | CA385808162 | BBS10 | c.2163T>A (p.Asp721Glu)
| |
12 | g.76345823T>A | CA385808163 | BBS10 | c.2162A>T (p.Asp721Val)
| |
12 | g.76345823T>C | CA385808164 | BBS10 | c.2162A>G (p.Asp721Gly)
| |
12 | g.76345823T>G | CA385808165 | BBS10 | c.2162A>C (p.Asp721Ala)
| |
12 | g.76345824C>A | CA385808166 | BBS10 | c.2161G>T (p.Asp721Tyr)
| |
12 | g.76345824C= | CA2047353044 | BBS10 | c.2161G= (p.Asp721=)
| |
12 | g.76345824C>G | CA385808167 | BBS10 | c.2161G>C (p.Asp721His)
| |
12 | g.76345824C>T | CA239331406 | BBS10 | c.2161G>A (p.Asp721Asn)
| dbSNP |
12 | g.76345825T>A | CA385808168 | BBS10 | c.2160A>T (p.Glu720Asp)
| |
12 | g.76345825T>C | CA481010565 | BBS10 | c.2160A>G (p.Glu720=)
| |
12 | g.76345825T>G | CA385808169 | BBS10 | c.2160A>C (p.Glu720Asp)
| |
12 | g.76345826T>A | CA385808170 | BBS10 | c.2159A>T (p.Glu720Val)
| |
12 | g.76345826T>C | CA385808171 | BBS10 | c.2159A>G (p.Glu720Gly)
| |
12 | g.76345826T>G | CA385808172 | BBS10 | c.2159A>C (p.Glu720Ala)
| |
12 | g.76345827C>A | CA385808173 | BBS10 | c.2158G>T (p.Glu720Ter)
| |
12 | g.76345827C>G | CA385808175 | BBS10 | c.2158G>C (p.Glu720Gln)
| |
12 | g.76345827C>T | CA385808174 | BBS10 | c.2158G>A (p.Glu720Lys)
| |
12 | g.76345828T>A | CA481010571 | BBS10 | c.2157A>T (p.Ser719=)
| |
12 | g.76345828T>C | CA481010572 | BBS10 | c.2157A>G (p.Ser719=)
| ClinVar dbSNP gnomAD v4 |
12 | g.76345828T>G | CA481010573 | BBS10 | c.2157A>C (p.Ser719=)
| |
12 | g.76345828T= | CA2047353045 | BBS10 | c.2157A= (p.Ser719=)
| |