Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.116592964_116592971delinsTGGTTGCCCA1657300378RWDD1c.611-16_611-9delinsTGGTTGCC (n.611-16_611-9delinsTGGTTGCC)
c.323-16_323-9delinsTGGTTGCC (n.323-16_323-9delinsTGGTTGCC)
6g.116592965_116592971delCA569698004RWDD1c.611-15_611-9del (n.611-15_611-9del)
c.323-15_323-9del (n.323-15_323-9del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.116592966_116592971delCA2680116109RWDD1c.611-14_611-9del (n.611-14_611-9del)
c.323-14_323-9del (n.323-14_323-9del)
 gnomAD v4
6g.116592967_116592971delinsTTGCCCA1657300381RWDD1c.611-13_611-9delinsTTGCC (n.611-13_611-9delinsTTGCC)
c.323-13_323-9delinsTTGCC (n.323-13_323-9delinsTTGCC)
6g.116592969_116592972delCA569698015RWDD1c.611-11_611-8del (n.611-11_611-8del)
c.323-11_323-8del (n.323-11_323-8del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.116592969G>ACA2680116111RWDD1c.611-11G>A (n.611-11G>A)
c.323-11G>A (n.323-11G>A)
 gnomAD v4
6g.116592969G>CCA1093548318RWDD1c.611-11G>C (n.611-11G>C)
c.323-11G>C (n.323-11G>C)
 gnomAD v3 gnomAD v4
6g.116592969G=CA1657300383RWDD1c.611-11G= (n.611-11G=)
c.323-11G= (n.323-11G=)
6g.116592969G>TCA569698019RWDD1c.611-11G>T (n.611-11G>T)
c.323-11G>T (n.323-11G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.116592969_116592970delCA569698022RWDD1c.611-11_611-10del (n.611-11_611-10del)
c.323-11_323-10del (n.323-11_323-10del)
 gnomAD v2 gnomAD v4
6g.116592969_116592971delCA569698023RWDD1c.611-11_611-9del (n.611-11_611-9del)
c.323-11_323-9del (n.323-11_323-9del)
 gnomAD v2 gnomAD v3 gnomAD v4
6g.116592969_116592970insTTTCA569698026RWDD1c.611-11_611-10insTTT (n.611-11_611-10insTTT)
c.323-11_323-10insTTT (n.323-11_323-10insTTT)
 gnomAD v2 gnomAD v3 gnomAD v4
6g.116592970C>ACA2680116112RWDD1c.611-10C>A (n.611-10C>A)
c.323-10C>A (n.323-10C>A)
 gnomAD v4
6g.116592970C=CA1657300384RWDD1c.611-10C= (n.611-10C=)
c.323-10C= (n.323-10C=)
6g.116592970C>GCA1093548321RWDD1c.611-10C>G (n.611-10C>G)
c.323-10C>G (n.323-10C>G)
 gnomAD v3 gnomAD v4
6g.116592970C>TCA569698028RWDD1c.611-10C>T (n.611-10C>T)
c.323-10C>T (n.323-10C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.116592970_116592971insTTTTTCA569698033RWDD1c.611-10_611-9insTTTTT (n.611-10_611-9insTTTTT)
c.323-10_323-9insTTTTT (n.323-10_323-9insTTTTT)
 gnomAD v2
6g.116592971C=CA1657300385RWDD1c.611-9C= (n.611-9C=)
c.323-9C= (n.323-9C=)
6g.116592971C>TCA569698035RWDD1c.611-9C>T (n.611-9C>T)
c.323-9C>T (n.323-9C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.116592972T>CCA2680116114RWDD1c.611-8T>C (n.611-8T>C)
c.323-8T>C (n.323-8T>C)
 gnomAD v4
6g.116592975_116592976insTTTTTTCA569698042RWDD1c.611-5_611-4insTTTTTT (n.611-5_611-4insTTTTTT)
c.323-5_323-4insTTTTTT (n.323-5_323-4insTTTTTT)
 gnomAD v2 gnomAD v3 gnomAD v4
6g.116592975_116592976insTTTTTTTCA569698049RWDD1c.611-5_611-4insTTTTTTT (n.611-5_611-4insTTTTTTT)
c.323-5_323-4insTTTTTTT (n.323-5_323-4insTTTTTTT)
 gnomAD v2
6g.116592975_116592976insTTTTTTTTTTTTCA569698052RWDD1c.611-5_611-4insTTTTTTTTTTTT (n.611-5_611-4insTTTTTTTTTTTT)
c.323-5_323-4insTTTTTTTTTTTT (n.323-5_323-4insTTTTTTTTTTTT)
 gnomAD v2
6g.116592974_116592975dupCA2772740436RWDD1c.611-6_611-5dup (n.611-6_611-5dup)
c.323-6_323-5dup (n.323-6_323-5dup)
6g.116592972_116592975dupCA569698045RWDD1c.611-8_611-5dup (n.611-8_611-5dup)
c.323-8_323-5dup (n.323-8_323-5dup)
 gnomAD v2 gnomAD v3 gnomAD v4
6g.116592975delCA2680116113RWDD1c.611-5del (n.611-5del)
c.323-5del (n.323-5del)
 gnomAD v4
6g.116592975T>GCA569698055RWDD1c.611-5T>G (n.611-5T>G)
c.323-5T>G (n.323-5T>G)
 dbSNP gnomAD v2 gnomAD v4
6g.116592975T=CA1657300386RWDD1c.611-5T= (n.611-5T=)
c.323-5T= (n.323-5T=)
6g.116592976delCA2680116115RWDD1c.611-4del (n.611-4del)
c.323-4del (n.323-4del)
 gnomAD v4
6g.116592976G>CCA2772740437RWDD1c.611-4G>C (n.611-4G>C)
c.323-4G>C (n.323-4G>C)
6g.116592976G=CA1657300387RWDD1c.611-4G= (n.611-4G=)
c.323-4G= (n.323-4G=)
6g.116592976G>TCA569698059RWDD1c.611-4G>T (n.611-4G>T)
c.323-4G>T (n.323-4G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.116592976_116592977delCA2772740439RWDD1c.611-4_611-3del (n.611-4_611-3del)
c.323-4_323-3del (n.323-4_323-3del)
6g.116592976_116592979delCA1093548337RWDD1c.611-4_611-1del (n.611-4_611-1del)
c.323-4_323-1del (n.323-4_323-1del)
 gnomAD v3 gnomAD v4
6g.116592976_116592980delCA1093548332RWDD1c.611-4_611del
c.323-4_323del
 gnomAD v3 gnomAD v4
6g.116592978_116592980delCA1093548340RWDD1c.611-2_611del
c.323-2_323del
 gnomAD v3 gnomAD v4
6g.116592976_116592983delCA2772740438RWDD1c.611-4_614del
c.323-4_326del
6g.116592977C>ACA2680116116RWDD1c.611-3C>A (n.611-3C>A)
c.323-3C>A (n.323-3C>A)
 gnomAD v4
6g.116592977C=CA1657300388RWDD1c.611-3C= (n.611-3C=)
c.323-3C= (n.323-3C=)
6g.116592977C>GCA2680116117RWDD1c.611-3C>G (n.611-3C>G)
c.323-3C>G (n.323-3C>G)
 gnomAD v4
6g.116592977C>TCA569698061RWDD1c.611-3C>T (n.611-3C>T)
c.323-3C>T (n.323-3C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.116592977_116592980delCA2772740440RWDD1c.611-3_611del
c.323-3_323del
6g.116592977_116592978insTTTTTTCA2680116118RWDD1c.611-3_611-2insTTTTTT (n.611-3_611-2insTTTTTT)
c.323-3_323-2insTTTTTT (n.323-3_323-2insTTTTTT)
 gnomAD v4
6g.116592978A>CCA365417082RWDD1c.611-2A>C (n.611-2A>C)
c.323-2A>C (n.323-2A>C)
 gnomAD v4
6g.116592978A>GCA365417081RWDD1c.611-2A>G (n.611-2A>G)
c.323-2A>G (n.323-2A>G)
6g.116592978A>TCA365417079RWDD1c.611-2A>T (n.611-2A>T)
c.323-2A>T (n.323-2A>T)
 gnomAD v4
6g.116592978_116592979insTTTTTTTTCA1093548349RWDD1c.611-2_611-1insTTTTTTTT (n.611-2_611-1insTTTTTTTT)
c.323-2_323-1insTTTTTTTT (n.323-2_323-1insTTTTTTTT)
 gnomAD v3 gnomAD v4
6g.116592979G>ACA365417084RWDD1c.611-1G>A (n.611-1G>A)
c.323-1G>A (n.323-1G>A)
6g.116592979G>CCA365417086RWDD1c.611-1G>C (n.611-1G>C)
c.323-1G>C (n.323-1G>C)
6g.116592979G=CA1657300389RWDD1c.611-1G= (n.611-1G=)
c.323-1G= (n.323-1G=)
6g.116592979G>TCA365417088RWDD1c.611-1G>T (n.611-1G>T)
c.323-1G>T (n.323-1G>T)
 dbSNP gnomAD v3 gnomAD v4
6g.116592979_116592980insTTTTCA1093548355RWDD1c.611-1_611insTTTT (n.611-1_611insTTTT)
c.323-1_323insTTTT (n.323-1_323insTTTT)
 gnomAD v3 gnomAD v4
6g.116592980C>ACA365417090RWDD1c.611C>A (p.Ala204Asp)
c.323C>A (p.Ala108Asp)
 gnomAD v4
6g.116592980C>GCA365417092RWDD1c.611C>G (p.Ala204Gly)
c.323C>G (p.Ala108Gly)
6g.116592980C>TCA365417094RWDD1c.611C>T (p.Ala204Val)
c.323C>T (p.Ala108Val)
 gnomAD v3 gnomAD v4
6g.116592981T>ACA451623066RWDD1c.612T>A (p.Ala204=)
c.324T>A (p.Ala108=)
6g.116592981T>CCA451623067RWDD1c.612T>C (p.Ala204=)
c.324T>C (p.Ala108=)
 gnomAD v4
6g.116592981T>GCA145912763RWDD1c.612T>G (p.Ala204=)
c.324T>G (p.Ala108=)
 dbSNP gnomAD v4
6g.116592981T=CA1657300390RWDD1c.612T= (p.Ala204=)
c.324T= (p.Ala108=)
6g.116592982G>ACA365417095RWDD1c.613G>A (p.Gly205Arg)
c.325G>A (p.Gly109Arg)
 dbSNP gnomAD v4 COSMIC
6g.116592982G>CCA365417097RWDD1c.613G>C (p.Gly205Arg)
c.325G>C (p.Gly109Arg)
6g.116592982G=CA1657300391RWDD1c.613G= (p.Gly205=)
c.325G= (p.Gly109=)
6g.116592982G>TCA365417099RWDD1c.613G>T (p.Gly205Ter)
c.325G>T (p.Gly109Ter)
 gnomAD v3 gnomAD v4
6g.116592982_116592984delCA2772740442RWDD1c.613_615del (p.Gly205del)
c.325_327del (p.Gly109del)
6g.116592983G>ACA365417101RWDD1c.614G>A (p.Gly205Glu)
c.326G>A (p.Gly109Glu)
6g.116592983G>CCA365417103RWDD1c.614G>C (p.Gly205Ala)
c.326G>C (p.Gly109Ala)
 COSMIC
6g.116592983G>TCA365417104RWDD1c.614G>T (p.Gly205Val)
c.326G>T (p.Gly109Val)
 gnomAD v4
6g.116592984A>CCA451623069RWDD1c.615A>C (p.Gly205=)
c.327A>C (p.Gly109=)
 gnomAD v4
6g.116592984A>GCA451623070RWDD1c.615A>G (p.Gly205=)
c.327A>G (p.Gly109=)
6g.116592984A>TCA451623072RWDD1c.615A>T (p.Gly205=)
c.327A>T (p.Gly109=)
6g.116592984_116592987delinsAAACCA1657300392RWDD1c.615_618delinsAAAC (p.Gly205=)
c.327_330delinsAAAC (p.Gly109=)
6g.116592985A=CA1657300393RWDD1c.616A= (p.Asn206=)
c.328A= (p.Asn110=)
6g.116592985A>CCA365417109RWDD1c.616A>C (p.Asn206His)
c.328A>C (p.Asn110His)
 dbSNP gnomAD v2
6g.116592985A>GCA365417107RWDD1c.616A>G (p.Asn206Asp)
c.328A>G (p.Asn110Asp)
 gnomAD v4
6g.116592985A>TCA365417105RWDD1c.616A>T (p.Asn206Tyr)
c.328A>T (p.Asn110Tyr)
6g.116592988_116592990delCA569698063RWDD1c.619_621del (p.Asn207del)
c.331_333del (p.Asn111del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.116592986A>CCA365417111RWDD1c.617A>C (p.Asn206Thr)
c.329A>C (p.Asn110Thr)
6g.116592986A>GCA365417115RWDD1c.617A>G (p.Asn206Ser)
c.329A>G (p.Asn110Ser)
6g.116592986A>TCA365417113RWDD1c.617A>T (p.Asn206Ile)
c.329A>T (p.Asn110Ile)
6g.116592987C>ACA365417117RWDD1c.618C>A (p.Asn206Lys)
c.330C>A (p.Asn110Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.116592987C=CA1657300394RWDD1c.618C= (p.Asn206=)
c.330C= (p.Asn110=)
6g.116592987C>GCA365417119RWDD1c.618C>G (p.Asn206Lys)
c.330C>G (p.Asn110Lys)
6g.116592987C>TCA451623074RWDD1c.618C>T (p.Asn206=)
c.330C>T (p.Asn110=)
6g.116592988A>CCA365417120RWDD1c.619A>C (p.Asn207His)
c.331A>C (p.Asn111His)
6g.116592988A>GCA365417122RWDD1c.619A>G (p.Asn207Asp)
c.331A>G (p.Asn111Asp)
6g.116592988A>TCA365417124RWDD1c.619A>T (p.Asn207Tyr)
c.331A>T (p.Asn111Tyr)
6g.116592989A>CCA365417126RWDD1c.620A>C (p.Asn207Thr)
c.332A>C (p.Asn111Thr)
6g.116592989A>GCA365417128RWDD1c.620A>G (p.Asn207Ser)
c.332A>G (p.Asn111Ser)
 gnomAD v4
6g.116592989A>TCA365417130RWDD1c.620A>T (p.Asn207Ile)
c.332A>T (p.Asn111Ile)
6g.116592990C>ACA365417131RWDD1c.621C>A (p.Asn207Lys)
c.333C>A (p.Asn111Lys)
 gnomAD v3 gnomAD v4
6g.116592990C=CA1657300395RWDD1c.621C= (p.Asn207=)
c.333C= (p.Asn111=)
6g.116592990C>GCA365417132RWDD1c.621C>G (p.Asn207Lys)
c.333C>G (p.Asn111Lys)
6g.116592990C>TCA3970650RWDD1c.621C>T (p.Asn207=)
c.333C>T (p.Asn111=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.116592991G>ACA3970651RWDD1c.622G>A (p.Val208Met)
c.334G>A (p.Val112Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.116592991G>CCA365417135RWDD1c.622G>C (p.Val208Leu)
c.334G>C (p.Val112Leu)
 gnomAD v4
6g.116592991G=CA1657300396RWDD1c.622G= (p.Val208=)
c.334G= (p.Val112=)
6g.116592991G>TCA365417137RWDD1c.622G>T (p.Val208Leu)
c.334G>T (p.Val112Leu)
 gnomAD v3 gnomAD v4
6g.116592992T>ACA365417140RWDD1c.623T>A (p.Val208Glu)
c.335T>A (p.Val112Glu)
6g.116592992T>CCA365417142RWDD1c.623T>C (p.Val208Ala)
c.335T>C (p.Val112Ala)
6g.116592992T>GCA365417144RWDD1c.623T>G (p.Val208Gly)
c.335T>G (p.Val112Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.116592992T=CA1657300397RWDD1c.623T= (p.Val208=)
c.335T= (p.Val112=)
6g.116592993G>ACA451623079RWDD1c.624G>A (p.Val208=)
c.336G>A (p.Val112=)
 dbSNP gnomAD v4 COSMIC
6g.116592993G>CCA451623080RWDD1c.624G>C (p.Val208=)
c.336G>C (p.Val112=)
6g.116592993G=CA1657300398RWDD1c.624G= (p.Val208=)
c.336G= (p.Val112=)
6g.116592993G>TCA451623081RWDD1c.624G>T (p.Val208=)
c.336G>T (p.Val112=)
 gnomAD v3 gnomAD v4
6g.116592994G>ACA145912783RWDD1c.625G>A (p.Glu209Lys)
c.337G>A (p.Glu113Lys)
 dbSNP COSMIC
6g.116592994G>CCA365417146RWDD1c.625G>C (p.Glu209Gln)
c.337G>C (p.Glu113Gln)
6g.116592994G=CA1657300399RWDD1c.625G= (p.Glu209=)
c.337G= (p.Glu113=)
6g.116592994G>TCA365417147RWDD1c.625G>T (p.Glu209Ter)
c.337G>T (p.Glu113Ter)
6g.116592995A=CA1657300400RWDD1c.626A= (p.Glu209=)
c.338A= (p.Glu113=)
6g.116592995A>CCA3970652RWDD1c.626A>C (p.Glu209Ala)
c.338A>C (p.Glu113Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.116592995A>GCA3970653RWDD1c.626A>G (p.Glu209Gly)
c.338A>G (p.Glu113Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.116592995A>TCA365417151RWDD1c.626A>T (p.Glu209Val)
c.338A>T (p.Glu113Val)
6g.116592996G>ACA451623086RWDD1c.627G>A (p.Glu209=)
c.339G>A (p.Glu113=)
6g.116592996G>CCA365417153RWDD1c.627G>C (p.Glu209Asp)
c.339G>C (p.Glu113Asp)
6g.116592996G>TCA365417155RWDD1c.627G>T (p.Glu209Asp)
c.339G>T (p.Glu113Asp)
 gnomAD v3 gnomAD v4
6g.116592997G>ACA365417159RWDD1c.628G>A (p.Val210Ile)
c.340G>A (p.Val114Ile)
6g.116592997G>CCA365417160RWDD1c.628G>C (p.Val210Leu)
c.340G>C (p.Val114Leu)
6g.116592997G>TCA365417157RWDD1c.628G>T (p.Val210Leu)
c.340G>T (p.Val114Leu)
6g.116592998T>ACA365417162RWDD1c.629T>A (p.Val210Glu)
c.341T>A (p.Val114Glu)
6g.116592998T>CCA365417163RWDD1c.629T>C (p.Val210Ala)
c.341T>C (p.Val114Ala)
6g.116592998T>GCA365417165RWDD1c.629T>G (p.Val210Gly)
c.341T>G (p.Val114Gly)
 dbSNP
6g.116592998T=CA1657300401RWDD1c.629T= (p.Val210=)
c.341T= (p.Val114=)
6g.116592999A=CA1657300402RWDD1c.630A= (p.Val210=)
c.342A= (p.Val114=)
6g.116592999A>CCA451623090RWDD1c.630A>C (p.Val210=)
c.342A>C (p.Val114=)
6g.116592999A>GCA3970654RWDD1c.630A>G (p.Val210=)
c.342A>G (p.Val114=)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.116592999A>TCA451623092RWDD1c.630A>T (p.Val210=)
c.342A>T (p.Val114=)
6g.116593000G>ACA365417168RWDD1c.631G>A (p.Asp211Asn)
c.343G>A (p.Asp115Asn)
6g.116593000G>CCA365417169RWDD1c.631G>C (p.Asp211His)
c.343G>C (p.Asp115His)
6g.116593000G>TCA365417171RWDD1c.631G>T (p.Asp211Tyr)
c.343G>T (p.Asp115Tyr)
 gnomAD v3 gnomAD v4
6g.116593001A>CCA365417173RWDD1c.632A>C (p.Asp211Ala)
c.344A>C (p.Asp115Ala)
6g.116593001A>GCA365417174RWDD1c.632A>G (p.Asp211Gly)
c.344A>G (p.Asp115Gly)
6g.116593001A>TCA365417176RWDD1c.632A>T (p.Asp211Val)
c.344A>T (p.Asp115Val)
6g.116593002T>ACA365417178RWDD1c.633T>A (p.Asp211Glu)
c.345T>A (p.Asp115Glu)
6g.116593002T>CCA451623094RWDD1c.633T>C (p.Asp211=)
c.345T>C (p.Asp115=)
6g.116593002T>GCA365417180RWDD1c.633T>G (p.Asp211Glu)
c.345T>G (p.Asp115Glu)
 gnomAD v4
6g.116593003G>ACA365417184RWDD1c.634G>A (p.Glu212Lys)
c.346G>A (p.Glu116Lys)
6g.116593003G>CCA365417185RWDD1c.634G>C (p.Glu212Gln)
c.346G>C (p.Glu116Gln)
6g.116593003G>TCA365417182RWDD1c.634G>T (p.Glu212Ter)
c.346G>T (p.Glu116Ter)
 gnomAD v3 gnomAD v4
6g.116593004A>CCA365417187RWDD1c.635A>C (p.Glu212Ala)
c.347A>C (p.Glu116Ala)
6g.116593004A>GCA365417189RWDD1c.635A>G (p.Glu212Gly)
c.347A>G (p.Glu116Gly)
6g.116593004A>TCA365417191RWDD1c.635A>T (p.Glu212Val)
c.347A>T (p.Glu116Val)
6g.116593005G>ACA451623095RWDD1c.636G>A (p.Glu212=)
c.348G>A (p.Glu116=)
6g.116593005G>CCA365417193RWDD1c.636G>C (p.Glu212Asp)
c.348G>C (p.Glu116Asp)
6g.116593005G>TCA365417195RWDD1c.636G>T (p.Glu212Asp)
c.348G>T (p.Glu116Asp)
6g.116593006T>ACA365417199RWDD1c.637T>A (p.Ser213Thr)
c.349T>A (p.Ser117Thr)
 dbSNP gnomAD v4
6g.116593006T>CCA365417196RWDD1c.637T>C (p.Ser213Pro)
c.349T>C (p.Ser117Pro)
 gnomAD v4
6g.116593006T>GCA365417198RWDD1c.637T>G (p.Ser213Ala)
c.349T>G (p.Ser117Ala)
6g.116593006T=CA1657300403RWDD1c.637T= (p.Ser213=)
c.349T= (p.Ser117=)
6g.116593007C>ACA365417202RWDD1c.638C>A (p.Ser213Tyr)
c.350C>A (p.Ser117Tyr)
 dbSNP
6g.116593007C=CA1657300404RWDD1c.638C= (p.Ser213=)
c.350C= (p.Ser117=)
6g.116593007C>GCA365417204RWDD1c.638C>G (p.Ser213Cys)
c.350C>G (p.Ser117Cys)
6g.116593007C>TCA365417206RWDD1c.638C>T (p.Ser213Phe)
c.350C>T (p.Ser117Phe)
 gnomAD v4
6g.116593008T>ACA451623098RWDD1c.639T>A (p.Ser213=)
c.351T>A (p.Ser117=)
6g.116593008T>CCA451623099RWDD1c.639T>C (p.Ser213=)
c.351T>C (p.Ser117=)
6g.116593008T>GCA451623100RWDD1c.639T>G (p.Ser213=)
c.351T>G (p.Ser117=)
6g.116593009T>ACA365417208RWDD1c.640T>A (p.Leu214Met)
c.352T>A (p.Leu118Met)
6g.116593009T>CCA451623101RWDD1c.640T>C (p.Leu214=)
c.352T>C (p.Leu118=)
 dbSNP
6g.116593009T>GCA365417209RWDD1c.640T>G (p.Leu214Val)
c.352T>G (p.Leu118Val)
6g.116593009T=CA1657300405RWDD1c.640T= (p.Leu214=)
c.352T= (p.Leu118=)
6g.116593010T>ACA365417215RWDD1c.641T>A (p.Leu214Ter)
c.353T>A (p.Leu118Ter)
6g.116593010T>CCA365417213RWDD1c.641T>C (p.Leu214Ser)
c.353T>C (p.Leu118Ser)
6g.116593010T>GCA365417211RWDD1c.641T>G (p.Leu214Trp)
c.353T>G (p.Leu118Trp)
6g.116593011G>ACA3970655RWDD1c.642G>A (p.Leu214=)
c.354G>A (p.Leu118=)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.116593011G>CCA365417220RWDD1c.642G>C (p.Leu214Phe)
c.354G>C (p.Leu118Phe)
6g.116593011G=CA1657300406RWDD1c.642G= (p.Leu214=)
c.354G= (p.Leu118=)
6g.116593011G>TCA365417218RWDD1c.642G>T (p.Leu214Phe)
c.354G>T (p.Leu118Phe)
 gnomAD v4
6g.116593012T>ACA365417222RWDD1c.643T>A (p.Phe215Ile)
c.355T>A (p.Phe119Ile)
6g.116593012T>CCA365417225RWDD1c.643T>C (p.Phe215Leu)
c.355T>C (p.Phe119Leu)
6g.116593012T>GCA365417223RWDD1c.643T>G (p.Phe215Val)
c.355T>G (p.Phe119Val)
6g.116593013T>ACA365417226RWDD1c.644T>A (p.Phe215Tyr)
c.356T>A (p.Phe119Tyr)
6g.116593013T>CCA365417228RWDD1c.644T>C (p.Phe215Ser)
c.356T>C (p.Phe119Ser)
6g.116593013T>GCA365417230RWDD1c.644T>G (p.Phe215Cys)
c.356T>G (p.Phe119Cys)
6g.116593014C>ACA365417232RWDD1c.645C>A (p.Phe215Leu)
c.357C>A (p.Phe119Leu)
6g.116593014C=CA1657300407RWDD1c.645C= (p.Phe215=)
c.357C= (p.Phe119=)
6g.116593014C>GCA365417233RWDD1c.645C>G (p.Phe215Leu)
c.357C>G (p.Phe119Leu)
6g.116593014C>TCA3970656RWDD1c.645C>T (p.Phe215=)
c.357C>T (p.Phe119=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.116593015C>ACA365417237RWDD1c.646C>A (p.Gln216Lys)
c.358C>A (p.Gln120Lys)
6g.116593015C=CA1657300408RWDD1c.646C= (p.Gln216=)
c.358C= (p.Gln120=)
6g.116593015C>GCA365417238RWDD1c.646C>G (p.Gln216Glu)
c.358C>G (p.Gln120Glu)
 gnomAD v4
6g.116593015C>TCA365417240RWDD1c.646C>T (p.Gln216Ter)
c.358C>T (p.Gln120Ter)
 dbSNP gnomAD v3 gnomAD v4
6g.116593016A>CCA365417242RWDD1c.647A>C (p.Gln216Pro)
c.359A>C (p.Gln120Pro)
6g.116593016A>GCA365417244RWDD1c.647A>G (p.Gln216Arg)
c.359A>G (p.Gln120Arg)
6g.116593016A>TCA365417246RWDD1c.647A>T (p.Gln216Leu)
c.359A>T (p.Gln120Leu)
6g.116593017A>CCA365417250RWDD1c.648A>C (p.Gln216His)
c.360A>C (p.Gln120His)
6g.116593017A>GCA451623111RWDD1c.648A>G (p.Gln216=)
c.360A>G (p.Gln120=)
6g.116593017A>TCA365417247RWDD1c.648A>T (p.Gln216His)
c.360A>T (p.Gln120His)
6g.116593018G>ACA365417252RWDD1c.649G>A (p.Glu217Lys)
c.361G>A (p.Glu121Lys)
6g.116593018G>CCA365417253RWDD1c.649G>C (p.Glu217Gln)
c.361G>C (p.Glu121Gln)
6g.116593018G>TCA365417255RWDD1c.649G>T (p.Glu217Ter)
c.361G>T (p.Glu121Ter)
6g.116593019A>CCA365417257RWDD1c.650A>C (p.Glu217Ala)
c.362A>C (p.Glu121Ala)
6g.116593019A>GCA365417259RWDD1c.650A>G (p.Glu217Gly)
c.362A>G (p.Glu121Gly)
6g.116593019A>TCA365417261RWDD1c.650A>T (p.Glu217Val)
c.362A>T (p.Glu121Val)
6g.116593020A>CCA365417263RWDD1c.651A>C (p.Glu217Asp)
c.363A>C (p.Glu121Asp)
6g.116593020A>GCA451623115RWDD1c.651A>G (p.Glu217=)
c.363A>G (p.Glu121=)
6g.116593020A>TCA365417264RWDD1c.651A>T (p.Glu217Asp)
c.363A>T (p.Glu121Asp)
6g.116593021A>CCA365417267RWDD1c.652A>C (p.Met218Leu)
c.364A>C (p.Met122Leu)
6g.116593021A>GCA365417269RWDD1c.652A>G (p.Met218Val)
c.364A>G (p.Met122Val)
6g.116593021A>TCA365417270RWDD1c.652A>T (p.Met218Leu)
c.364A>T (p.Met122Leu)
6g.116593022T>ACA365417276RWDD1c.653T>A (p.Met218Lys)
c.365T>A (p.Met122Lys)
6g.116593022T>CCA365417275RWDD1c.653T>C (p.Met218Thr)
c.365T>C (p.Met122Thr)
6g.116593022T>GCA365417273RWDD1c.653T>G (p.Met218Arg)
c.365T>G (p.Met122Arg)
6g.116593023G>ACA365417278RWDD1c.654G>A (p.Met218Ile)
c.366G>A (p.Met122Ile)
 dbSNP
6g.116593023G>CCA365417280RWDD1c.654G>C (p.Met218Ile)
c.366G>C (p.Met122Ile)
6g.116593023G=CA1657300409RWDD1c.654G= (p.Met218=)
c.366G= (p.Met122=)
6g.116593023G>TCA365417282RWDD1c.654G>T (p.Met218Ile)
c.366G>T (p.Met122Ile)
6g.116593024G>ACA365417284RWDD1c.655G>A (p.Asp219Asn)
c.367G>A (p.Asp123Asn)
6g.116593024G>CCA365417286RWDD1c.655G>C (p.Asp219His)
c.367G>C (p.Asp123His)
6g.116593024G>TCA365417287RWDD1c.655G>T (p.Asp219Tyr)
c.367G>T (p.Asp123Tyr)
6g.116593025A>CCA365417293RWDD1c.656A>C (p.Asp219Ala)
c.368A>C (p.Asp123Ala)
6g.116593025A>GCA365417289RWDD1c.656A>G (p.Asp219Gly)
c.368A>G (p.Asp123Gly)
6g.116593025A>TCA365417291RWDD1c.656A>T (p.Asp219Val)
c.368A>T (p.Asp123Val)
6g.116593026T>ACA365417294RWDD1c.657T>A (p.Asp219Glu)
c.369T>A (p.Asp123Glu)
6g.116593026T>CCA451623120RWDD1c.657T>C (p.Asp219=)
c.369T>C (p.Asp123=)
 gnomAD v4
6g.116593026T>GCA365417296RWDD1c.657T>G (p.Asp219Glu)
c.369T>G (p.Asp123Glu)
 gnomAD v4
6g.116593027G>ACA365417299RWDD1c.658G>A (p.Asp220Asn)
c.370G>A (p.Asp124Asn)
6g.116593027G>CCA365417300RWDD1c.658G>C (p.Asp220His)
c.370G>C (p.Asp124His)
6g.116593027G>TCA365417301RWDD1c.658G>T (p.Asp220Tyr)
c.370G>T (p.Asp124Tyr)
 gnomAD v4
6g.116593028A>CCA365417303RWDD1c.659A>C (p.Asp220Ala)
c.371A>C (p.Asp124Ala)
6g.116593028A>GCA365417307RWDD1c.659A>G (p.Asp220Gly)
c.371A>G (p.Asp124Gly)
6g.116593028A>TCA365417305RWDD1c.659A>T (p.Asp220Val)
c.371A>T (p.Asp124Val)
6g.116593028_116593029insTAAAACA2740780469RWDD1c.659_660insTAAAA (p.Leu221LysfsTer?)
c.371_372insTAAAA (p.Leu125LysfsTer?)
6g.116593029C>ACA365417309RWDD1c.660C>A (p.Asp220Glu)
c.372C>A (p.Asp124Glu)
6g.116593029C=CA1657300410RWDD1c.660C= (p.Asp220=)
c.372C= (p.Asp124=)
6g.116593029C>GCA3970657RWDD1c.660C>G (p.Asp220Glu)
c.372C>G (p.Asp124Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.116593029C>TCA3970658RWDD1c.660C>T (p.Asp220=)
c.372C>T (p.Asp124=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.116593030T>ACA365417312RWDD1c.661T>A (p.Leu221Met)
c.373T>A (p.Leu125Met)
6g.116593030T>CCA451623126RWDD1c.661T>C (p.Leu221=)
c.373T>C (p.Leu125=)
6g.116593030T>GCA365417313RWDD1c.661T>G (p.Leu221Val)
c.373T>G (p.Leu125Val)
6g.116593031T>ACA365417316RWDD1c.662T>A (p.Leu221Ter)
c.374T>A (p.Leu125Ter)
6g.116593031T>CCA365417318RWDD1c.662T>C (p.Leu221Ser)
c.374T>C (p.Leu125Ser)
6g.116593031T>GCA365417320RWDD1c.662T>G (p.Leu221Trp)
c.374T>G (p.Leu125Trp)
 gnomAD v4
6g.116593032G>ACA451623130RWDD1c.663G>A (p.Leu221=)
c.375G>A (p.Leu125=)
6g.116593032G>CCA365417322RWDD1c.663G>C (p.Leu221Phe)
c.375G>C (p.Leu125Phe)
6g.116593032G>TCA365417323RWDD1c.663G>T (p.Leu221Phe)
c.375G>T (p.Leu125Phe)
6g.116593033G>ACA365417328RWDD1c.664G>A (p.Glu222Lys)
c.376G>A (p.Glu126Lys)
6g.116593033G>CCA365417326RWDD1c.664G>C (p.Glu222Gln)
c.376G>C (p.Glu126Gln)
6g.116593033G>TCA365417324RWDD1c.664G>T (p.Glu222Ter)
c.376G>T (p.Glu126Ter)
6g.116593034A>CCA365417330RWDD1c.665A>C (p.Glu222Ala)
c.377A>C (p.Glu126Ala)
6g.116593034A>GCA365417331RWDD1c.665A>G (p.Glu222Gly)
c.377A>G (p.Glu126Gly)
6g.116593034A>TCA365417333RWDD1c.665A>T (p.Glu222Val)
c.377A>T (p.Glu126Val)
6g.116593035G>ACA451623132RWDD1c.666G>A (p.Glu222=)
c.378G>A (p.Glu126=)
6g.116593035G>CCA365417335RWDD1c.666G>C (p.Glu222Asp)
c.378G>C (p.Glu126Asp)
6g.116593035G>TCA365417336RWDD1c.666G>T (p.Glu222Asp)
c.378G>T (p.Glu126Asp)
6g.116593036C>ACA365417337RWDD1c.667C>A (p.Leu223Met)
c.379C>A (p.Leu127Met)
6g.116593036C>GCA365417338RWDD1c.667C>G (p.Leu223Val)
c.379C>G (p.Leu127Val)
6g.116593036C>TCA451623134RWDD1c.667C>T (p.Leu223=)
c.379C>T (p.Leu127=)
6g.116593037T>ACA365417341RWDD1c.668T>A (p.Leu223Gln)
c.380T>A (p.Leu127Gln)
 dbSNP
6g.116593037T>CCA365417343RWDD1c.668T>C (p.Leu223Pro)
c.380T>C (p.Leu127Pro)
 gnomAD v4
6g.116593037T>GCA365417344RWDD1c.668T>G (p.Leu223Arg)
c.380T>G (p.Leu127Arg)
6g.116593037T=CA1657300411RWDD1c.668T= (p.Leu223=)
c.380T= (p.Leu127=)
6g.116593038G>ACA451623138RWDD1c.669G>A (p.Leu223=)
c.381G>A (p.Leu127=)
 dbSNP gnomAD v2 gnomAD v4
6g.116593038G>CCA451623137RWDD1c.669G>C (p.Leu223=)
c.381G>C (p.Leu127=)
6g.116593038G=CA1657300412RWDD1c.669G= (p.Leu223=)
c.381G= (p.Leu127=)
6g.116593038G>TCA451623136RWDD1c.669G>T (p.Leu223=)
c.381G>T (p.Leu127=)
6g.116593039G>ACA365417346RWDD1c.670G>A (p.Glu224Lys)
c.382G>A (p.Glu128Lys)
6g.116593039G>CCA365417348RWDD1c.670G>C (p.Glu224Gln)
c.382G>C (p.Glu128Gln)
6g.116593039G>TCA365417350RWDD1c.670G>T (p.Glu224Ter)
c.382G>T (p.Glu128Ter)
6g.116593040A=CA1657300413RWDD1c.671A= (p.Glu224=)
c.383A= (p.Glu128=)
6g.116593040A>CCA365417354RWDD1c.671A>C (p.Glu224Ala)
c.383A>C (p.Glu128Ala)
6g.116593040A>GCA3970659RWDD1c.671A>G (p.Glu224Gly)
c.383A>G (p.Glu128Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.116593040A>TCA365417352RWDD1c.671A>T (p.Glu224Val)
c.383A>T (p.Glu128Val)
6g.116593041G>ACA3970660RWDD1c.672G>A (p.Glu224=)
c.384G>A (p.Glu128=)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.116593041G>CCA365417357RWDD1c.672G>C (p.Glu224Asp)
c.384G>C (p.Glu128Asp)
6g.116593041G=CA1657300414RWDD1c.672G= (p.Glu224=)
c.384G= (p.Glu128=)
6g.116593041G>TCA365417360RWDD1c.672G>T (p.Glu224Asp)
c.384G>T (p.Glu128Asp)
6g.116593042G>ACA145912832RWDD1c.673G>A (p.Asp225Asn)
c.385G>A (p.Asp129Asn)
 dbSNP
6g.116593042G>CCA365417363RWDD1c.673G>C (p.Asp225His)
c.385G>C (p.Asp129His)
6g.116593042G=CA1657300415RWDD1c.673G= (p.Asp225=)
c.385G= (p.Asp129=)
6g.116593042G>TCA365417364RWDD1c.673G>T (p.Asp225Tyr)
c.385G>T (p.Asp129Tyr)
6g.116593043A>CCA365417369RWDD1c.674A>C (p.Asp225Ala)
c.386A>C (p.Asp129Ala)
6g.116593043A>GCA365417371RWDD1c.674A>G (p.Asp225Gly)
c.386A>G (p.Asp129Gly)
6g.116593043A>TCA365417372RWDD1c.674A>T (p.Asp225Val)
c.386A>T (p.Asp129Val)
6g.116593044T>ACA365417375RWDD1c.675T>A (p.Asp225Glu)
c.387T>A (p.Asp129Glu)
6g.116593044T>CCA451623140RWDD1c.675T>C (p.Asp225=)
c.387T>C (p.Asp129=)
 gnomAD v4
6g.116593044T>GCA365417378RWDD1c.675T>G (p.Asp225Glu)
c.387T>G (p.Asp129Glu)
6g.116593045G>ACA3970661RWDD1c.676G>A (p.Asp226Asn)
c.388G>A (p.Asp130Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.116593045G>CCA365417383RWDD1c.676G>C (p.Asp226His)
c.388G>C (p.Asp130His)
6g.116593045G=CA1657300416RWDD1c.676G= (p.Asp226=)
c.388G= (p.Asp130=)
6g.116593045G>TCA365417385RWDD1c.676G>T (p.Asp226Tyr)
c.388G>T (p.Asp130Tyr)
6g.116593046A=CA1657300417RWDD1c.677A= (p.Asp226=)
c.389A= (p.Asp130=)
6g.116593046A>CCA365417391RWDD1c.677A>C (p.Asp226Ala)
c.389A>C (p.Asp130Ala)
6g.116593046A>GCA365417392RWDD1c.677A>G (p.Asp226Gly)
c.389A>G (p.Asp130Gly)
6g.116593046A>TCA365417389RWDD1c.677A>T (p.Asp226Val)
c.389A>T (p.Asp130Val)
 dbSNP gnomAD v4
6g.116593047T>ACA365417397RWDD1c.678T>A (p.Asp226Glu)
c.390T>A (p.Asp130Glu)
6g.116593047T>CCA451623147RWDD1c.678T>C (p.Asp226=)
c.390T>C (p.Asp130=)
6g.116593047T>GCA365417402RWDD1c.678T>G (p.Asp226Glu)
c.390T>G (p.Asp130Glu)
6g.116593048G>ACA365417405RWDD1c.679G>A (p.Glu227Lys)
c.391G>A (p.Glu131Lys)
 COSMIC
6g.116593048G>CCA365417407RWDD1c.679G>C (p.Glu227Gln)
c.391G>C (p.Glu131Gln)
6g.116593048G>TCA365417410RWDD1c.679G>T (p.Glu227Ter)
c.391G>T (p.Glu131Ter)
6g.116593049A>CCA365417412RWDD1c.680A>C (p.Glu227Ala)
c.392A>C (p.Glu131Ala)
6g.116593049A>GCA365417414RWDD1c.680A>G (p.Glu227Gly)
c.392A>G (p.Glu131Gly)
6g.116593049A>TCA365417418RWDD1c.680A>T (p.Glu227Val)
c.392A>T (p.Glu131Val)
6g.116593050A=CA1657300418RWDD1c.681A= (p.Glu227=)
c.393A= (p.Glu131=)
6g.116593050A>CCA365417420RWDD1c.681A>C (p.Glu227Asp)
c.393A>C (p.Glu131Asp)
 COSMIC
6g.116593050A>GCA451623151RWDD1c.681A>G (p.Glu227=)
c.393A>G (p.Glu131=)
6g.116593050A>TCA12205732RWDD1c.681A>T (p.Glu227Asp)
c.393A>T (p.Glu131Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.116593051G>ACA365417425RWDD1c.682G>A (p.Asp228Asn)
c.394G>A (p.Asp132Asn)
6g.116593051G>CCA365417428RWDD1c.682G>C (p.Asp228His)
c.394G>C (p.Asp132His)
6g.116593051G>TCA365417430RWDD1c.682G>T (p.Asp228Tyr)
c.394G>T (p.Asp132Tyr)
 gnomAD v4
6g.116593052A>CCA365417433RWDD1c.683A>C (p.Asp228Ala)
c.395A>C (p.Asp132Ala)
6g.116593052A>GCA365417437RWDD1c.683A>G (p.Asp228Gly)
c.395A>G (p.Asp132Gly)
6g.116593052A>TCA365417436RWDD1c.683A>T (p.Asp228Val)
c.395A>T (p.Asp132Val)
6g.116593053T>ACA365417440RWDD1c.684T>A (p.Asp228Glu)
c.396T>A (p.Asp132Glu)
6g.116593053T>CCA451623158RWDD1c.684T>C (p.Asp228=)
c.396T>C (p.Asp132=)
 dbSNP
6g.116593053T>GCA365417443RWDD1c.684T>G (p.Asp228Glu)
c.396T>G (p.Asp132Glu)
6g.116593054G>ACA365417446RWDD1c.685G>A (p.Asp229Asn)
c.397G>A (p.Asp133Asn)
 COSMIC
6g.116593054G>CCA365417449RWDD1c.685G>C (p.Asp229His)
c.397G>C (p.Asp133His)
 gnomAD v4
6g.116593054G>TCA365417452RWDD1c.685G>T (p.Asp229Tyr)
c.397G>T (p.Asp133Tyr)
6g.116593055A>CCA365417455RWDD1c.686A>C (p.Asp229Ala)
c.398A>C (p.Asp133Ala)
6g.116593055A>GCA365417458RWDD1c.686A>G (p.Asp229Gly)
c.398A>G (p.Asp133Gly)
6g.116593055A>TCA365417460RWDD1c.686A>T (p.Asp229Val)
c.398A>T (p.Asp133Val)
6g.116593056T>ACA365417463RWDD1c.687T>A (p.Asp229Glu)
c.399T>A (p.Asp133Glu)
6g.116593056T>CCA451623160RWDD1c.687T>C (p.Asp229=)
c.399T>C (p.Asp133=)
6g.116593056T>GCA365417464RWDD1c.687T>G (p.Asp229Glu)
c.399T>G (p.Asp133Glu)
6g.116593057C>ACA365417473RWDD1c.688C>A (p.Pro230Thr)
c.400C>A (p.Pro134Thr)
 COSMIC
6g.116593057C=CA1657300419RWDD1c.688C= (p.Pro230=)
c.400C= (p.Pro134=)
6g.116593057C>GCA365417469RWDD1c.688C>G (p.Pro230Ala)
c.400C>G (p.Pro134Ala)
 dbSNP gnomAD v4
6g.116593057C>TCA365417467RWDD1c.688C>T (p.Pro230Ser)
c.400C>T (p.Pro134Ser)
6g.116593058C>ACA365417476RWDD1c.689C>A (p.Pro230Gln)
c.401C>A (p.Pro134Gln)
 COSMIC
6g.116593058C=CA1657300420RWDD1c.689C= (p.Pro230=)
c.401C= (p.Pro134=)
6g.116593058C>GCA365417482RWDD1c.689C>G (p.Pro230Arg)
c.401C>G (p.Pro134Arg)
 dbSNP gnomAD v3 gnomAD v4
6g.116593058C>TCA365417477RWDD1c.689C>T (p.Pro230Leu)
c.401C>T (p.Pro134Leu)
 dbSNP gnomAD v3 gnomAD v4
6g.116593059A>CCA451623167RWDD1c.690A>C (p.Pro230=)
c.402A>C (p.Pro134=)
6g.116593059A>GCA451623168RWDD1c.690A>G (p.Pro230=)
c.402A>G (p.Pro134=)
 gnomAD v4
6g.116593059A>TCA451623169RWDD1c.690A>T (p.Pro230=)
c.402A>T (p.Pro134=)
6g.116593060G>ACA365417485RWDD1c.691G>A (p.Asp231Asn)
c.403G>A (p.Asp135Asn)
 ClinVar dbSNP gnomAD v4
6g.116593060G>CCA365417488RWDD1c.691G>C (p.Asp231His)
c.403G>C (p.Asp135His)
6g.116593060G=CA1657300421RWDD1c.691G= (p.Asp231=)
c.403G= (p.Asp135=)
6g.116593060G>TCA365417487RWDD1c.691G>T (p.Asp231Tyr)
c.403G>T (p.Asp135Tyr)
 gnomAD v4
6g.116593061A>CCA365417491RWDD1c.692A>C (p.Asp231Ala)
c.404A>C (p.Asp135Ala)
6g.116593061A>GCA365417495RWDD1c.692A>G (p.Asp231Gly)
c.404A>G (p.Asp135Gly)
 gnomAD v4
6g.116593061A>TCA365417493RWDD1c.692A>T (p.Asp231Val)
c.404A>T (p.Asp135Val)
6g.116593062C>ACA365417497RWDD1c.693C>A (p.Asp231Glu)
c.405C>A (p.Asp135Glu)
6g.116593062C>GCA365417498RWDD1c.693C>G (p.Asp231Glu)
c.405C>G (p.Asp135Glu)
6g.116593062C>TCA451623171RWDD1c.693C>T (p.Asp231=)
c.405C>T (p.Asp135=)
6g.116593063T>ACA365417499RWDD1c.694T>A (p.Tyr232Asn)
c.406T>A (p.Tyr136Asn)
6g.116593063T>CCA365417500RWDD1c.694T>C (p.Tyr232His)
c.406T>C (p.Tyr136His)
 gnomAD v4
6g.116593063T>GCA365417501RWDD1c.694T>G (p.Tyr232Asp)
c.406T>G (p.Tyr136Asp)
6g.116593064A>CCA365417505RWDD1c.695A>C (p.Tyr232Ser)
c.407A>C (p.Tyr136Ser)
6g.116593064A>GCA365417503RWDD1c.695A>G (p.Tyr232Cys)
c.407A>G (p.Tyr136Cys)
 gnomAD v4
6g.116593064A>TCA365417502RWDD1c.695A>T (p.Tyr232Phe)
c.407A>T (p.Tyr136Phe)
6g.116593065T>ACA365417507RWDD1c.696T>A (p.Tyr232Ter)
c.408T>A (p.Tyr136Ter)
6g.116593065T>CCA3970662RWDD1c.696T>C (p.Tyr232=)
c.408T>C (p.Tyr136=)
 dbSNP ExAC gnomAD v3 gnomAD v4
6g.116593065T>GCA365417509RWDD1c.696T>G (p.Tyr232Ter)
c.408T>G (p.Tyr136Ter)
6g.116593065T=CA1657300422RWDD1c.696T= (p.Tyr232=)
c.408T= (p.Tyr136=)
6g.116593066A>CCA365417511RWDD1c.697A>C (p.Asn233His)
c.409A>C (p.Asn137His)
6g.116593066A>GCA365417514RWDD1c.697A>G (p.Asn233Asp)
c.409A>G (p.Asn137Asp)
6g.116593066A>TCA365417515RWDD1c.697A>T (p.Asn233Tyr)
c.409A>T (p.Asn137Tyr)
6g.116593067A>CCA365417520RWDD1c.698A>C (p.Asn233Thr)
c.410A>C (p.Asn137Thr)
6g.116593067A>GCA365417525RWDD1c.698A>G (p.Asn233Ser)
c.410A>G (p.Asn137Ser)
6g.116593067A>TCA365417522RWDD1c.698A>T (p.Asn233Ile)
c.410A>T (p.Asn137Ile)
6g.116593068T>ACA365417527RWDD1c.699T>A (p.Asn233Lys)
c.411T>A (p.Asn137Lys)
6g.116593068T>CCA451623172RWDD1c.699T>C (p.Asn233=)
c.411T>C (p.Asn137=)
6g.116593068T>GCA365417528RWDD1c.699T>G (p.Asn233Lys)
c.411T>G (p.Asn137Lys)
6g.116593069C>ACA365417531RWDD1c.700C>A (p.Pro234Thr)
c.412C>A (p.Pro138Thr)
6g.116593069C>GCA365417534RWDD1c.700C>G (p.Pro234Ala)
c.412C>G (p.Pro138Ala)
6g.116593069C>TCA365417537RWDD1c.700C>T (p.Pro234Ser)
c.412C>T (p.Pro138Ser)
 COSMIC

Number of alleles fetched