Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.238256810_238256843delinsTATCGGGCTATGGTGGAGTTCTTCTGCACTTAGACA1338039091PER2c.2065+79_2065+112delinsTCTAAGTGCAGAAGAACTCCACCATAGCCCGATA (n.2065+79_2065+112delinsTCTAAGTGCAGAAGAACTCCACCATAGCCCGATA)
2g.238256812_238256844delCA1338039092PER2c.2065+79_2065+111del (n.2065+79_2065+111del)
dbSNP gnomAD v4
2g.238256838C>ACA2663914809PER2c.2065+84G>T (n.2065+84G>T)
gnomAD v4
2g.238256840T>CCA766681720PER2c.2065+82A>G (n.2065+82A>G)
dbSNP gnomAD v3 gnomAD v4
2g.238256840T>GCA2663914810PER2c.2065+82A>C (n.2065+82A>C)
gnomAD v4
2g.238256840T=CA1338039000PER2c.2065+82A= (n.2065+82A=)
2g.238256841A=CA1338039003PER2c.2065+81T= (n.2065+81T=)
2g.238256841A>GCA1338039004PER2c.2065+81T>C (n.2065+81T>C)
dbSNP
2g.238256842_238256843delCA2663914811PER2c.2065+80_2065+81del (n.2065+80_2065+81del)
gnomAD v4
2g.238256842G>CCA1338039007PER2c.2065+80C>G (n.2065+80C>G)
dbSNP gnomAD v4
2g.238256842G=CA1338039005PER2c.2065+80C= (n.2065+80C=)
2g.238256842G>TCA2663914812PER2c.2065+80C>A (n.2065+80C>A)
gnomAD v4
2g.238256843A=CA1338039008PER2c.2065+79T= (n.2065+79T=)
2g.238256843A>GCA1338039009PER2c.2065+79T>C (n.2065+79T>C)
dbSNP
2g.238256847dupCA2663914813PER2c.2065+79dup (n.2065+79dup)
gnomAD v4
2g.238256845A=CA1338039010PER2c.2065+77T= (n.2065+77T=)
2g.238256845A>CCA2663914814PER2c.2065+77T>G (n.2065+77T>G)
gnomAD v4
2g.238256845A>GCA766681729PER2c.2065+77T>C (n.2065+77T>C)
dbSNP
2g.238256847A=CA1338039012PER2c.2065+75T= (n.2065+75T=)
2g.238256848T>ACA2663914815PER2c.2065+74A>T (n.2065+74A>T)
gnomAD v4
2g.238256848T>CCA540492334PER2c.2065+74A>G (n.2065+74A>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.238256848T=CA1338039019PER2c.2065+74A= (n.2065+74A=)
2g.238256850dupCA67968835PER2c.2065+74dup (n.2065+74dup)
dbSNP gnomAD v3 gnomAD v4
2g.238256849T>CCA2663914816PER2c.2065+73A>G (n.2065+73A>G)
gnomAD v4
2g.238256851A>TCA2577294912PER2c.2065+71T>A (n.2065+71T>A)
gnomAD v4
2g.238256852A>CCA2663914817PER2c.2065+70T>G (n.2065+70T>G)
gnomAD v4
2g.238256852A>GCA2663914818PER2c.2065+70T>C (n.2065+70T>C)
gnomAD v4
2g.238256853G>ACA540492336PER2c.2065+69C>T (n.2065+69C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.238256853G=CA1338039025PER2c.2065+69C= (n.2065+69C=)
2g.238256853G>TCA2663914819PER2c.2065+69C>A (n.2065+69C>A)
gnomAD v4
2g.238256854_238256855delCA2577294913PER2c.2065+67_2065+68del (n.2065+67_2065+68del)
2g.238256855T>CCA2663914820PER2c.2065+67A>G (n.2065+67A>G)
gnomAD v4
2g.238256856G>ACA2663914821PER2c.2065+66C>T (n.2065+66C>T)
gnomAD v4
2g.238256856G>TCA2577294914PER2c.2065+66C>A (n.2065+66C>A)
gnomAD v4
2g.238256857G>ACA67968853PER2c.2065+65C>T (n.2065+65C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.238256857G=CA1338039029PER2c.2065+65C= (n.2065+65C=)
2g.238256857G>TCA2663914822PER2c.2065+65C>A (n.2065+65C>A)
gnomAD v4
2g.238256858C>ACA2663914823PER2c.2065+64G>T (n.2065+64G>T)
gnomAD v4
2g.238256858C>TCA2663914824PER2c.2065+64G>A (n.2065+64G>A)
gnomAD v4
2g.238256859A>CCA2577294915PER2c.2065+63T>G (n.2065+63T>G)
gnomAD v4
2g.238256862C>TCA2577294916PER2c.2065+60G>A (n.2065+60G>A)
gnomAD v4
2g.238256865_238256867delCA2663914825PER2c.2065+58_2065+60del (n.2065+58_2065+60del)
gnomAD v4
2g.238256863T>CCA1043876197PER2c.2065+59A>G (n.2065+59A>G)
dbSNP gnomAD v3 gnomAD v4
2g.238256863T=CA1338039031PER2c.2065+59A= (n.2065+59A=)
2g.238256864T>GCA2663914826PER2c.2065+58A>C (n.2065+58A>C)
gnomAD v4
2g.238256866T>CCA766681740PER2c.2065+56A>G (n.2065+56A>G)
dbSNP gnomAD v4
2g.238256866T=CA1338039033PER2c.2065+56A= (n.2065+56A=)
2g.238256868_238256870delCA2663914827PER2c.2065+54_2065+56del (n.2065+54_2065+56del)
gnomAD v4
2g.238256867T>CCA1338039035PER2c.2065+55A>G (n.2065+55A>G)
dbSNP gnomAD v4
2g.238256867T=CA1338039034PER2c.2065+55A= (n.2065+55A=)
2g.238256868G>ACA2547673674PER2c.2065+54C>T (n.2065+54C>T)
gnomAD v4
2g.238256868G>CCA1043876198PER2c.2065+54C>G (n.2065+54C>G)
dbSNP gnomAD v3 gnomAD v4
2g.238256868G=CA1338039036PER2c.2065+54C= (n.2065+54C=)
2g.238256868G>TCA2663914828PER2c.2065+54C>A (n.2065+54C>A)
gnomAD v4
2g.238256872dupCA540492338PER2c.2065+53dup (n.2065+53dup)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.238256870T>ACA2663914829PER2c.2065+52A>T (n.2065+52A>T)
gnomAD v4
2g.238256871T>CCA2569039957PER2c.2065+51A>G (n.2065+51A>G)
2g.238256871T>GCA1338039039PER2c.2065+51A>C (n.2065+51A>C)
dbSNP
2g.238256871T=CA1338039038PER2c.2065+51A= (n.2065+51A=)
2g.238256872T>CCA540492339PER2c.2065+50A>G (n.2065+50A>G)
dbSNP gnomAD v2 gnomAD v4
2g.238256872T=CA1338039040PER2c.2065+50A= (n.2065+50A=)
2g.238256873C>TCA2663914830PER2c.2065+49G>A (n.2065+49G>A)
gnomAD v4
2g.238256874A>CCA647643607PER2c.2065+48T>G (n.2065+48T>G)
COSMIC
2g.238256874A>GCA2663914831PER2c.2065+48T>C (n.2065+48T>C)
gnomAD v4
2g.238256875T>CCA2663914832PER2c.2065+47A>G (n.2065+47A>G)
gnomAD v4
2g.238256876G>TCA2663914833PER2c.2065+46C>A (n.2065+46C>A)
gnomAD v4
2g.238256877G>TCA2663914834PER2c.2065+45C>A (n.2065+45C>A)
gnomAD v4
2g.238256879T=CA1338039041PER2c.2065+43A= (n.2065+43A=)
2g.238256880A>TCA2663914835PER2c.2065+42T>A (n.2065+42T>A)
gnomAD v4
2g.238256884dupCA2197189PER2c.2065+42dup (n.2065+42dup)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.238256883A>CCA2663914836PER2c.2065+39T>G (n.2065+39T>G)
gnomAD v4
2g.238256884A=CA1338039043PER2c.2065+38T= (n.2065+38T=)
2g.238256884A>GCA1338039044PER2c.2065+38T>C (n.2065+38T>C)
dbSNP
2g.238256885T>CCA2663914837PER2c.2065+37A>G (n.2065+37A>G)
gnomAD v4
2g.238256886delCA2663914838PER2c.2065+36del (n.2065+36del)
gnomAD v4
2g.238256886C>ACA766681752PER2c.2065+36G>T (n.2065+36G>T)
dbSNP
2g.238256886C=CA1338039045PER2c.2065+36G= (n.2065+36G=)
2g.238256887A=CA1338039047PER2c.2065+35T= (n.2065+35T=)
2g.238256887A>GCA2197190PER2c.2065+35T>C (n.2065+35T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.238256887_238256909delinsAAACTGCTCTCTGATCCAAGAGCCA1338039046PER2c.2065+13_2065+35delinsGCTCTTGGATCAGAGAGCAGTTT (n.2065+13_2065+35delinsGCTCTTGGATCAGAGAGCAGTTT)
2g.238256888_238256909delCA766681761PER2c.2065+13_2065+34del (n.2065+13_2065+34del)
dbSNP
2g.238256889_238256896delinsACTGCTCTCA1338039048PER2c.2065+26_2065+33delinsAGAGCAGT (n.2065+26_2065+33delinsAGAGCAGT)
2g.238256889_238256909delCA2663914839PER2c.2065+13_2065+33del (n.2065+13_2065+33del)
gnomAD v4
2g.238256893_238256899delCA2197191PER2c.2065+26_2065+32del (n.2065+26_2065+32del)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.238256892G>ACA2197192PER2c.2065+30C>T (n.2065+30C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.238256892G=CA1338039049PER2c.2065+30C= (n.2065+30C=)
2g.238256893C>ACA2197193PER2c.2065+29G>T (n.2065+29G>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.238256893C=CA1338039050PER2c.2065+29G= (n.2065+29G=)
2g.238256893C>TCA67968880PER2c.2065+29G>A (n.2065+29G>A)
dbSNP
2g.238256895C>TCA2663914840PER2c.2065+27G>A (n.2065+27G>A)
gnomAD v4
2g.238256896T>CCA67968885PER2c.2065+26A>G (n.2065+26A>G)
dbSNP gnomAD v2 gnomAD v4
2g.238256896T=CA1338039051PER2c.2065+26A= (n.2065+26A=)
2g.238256897C>GCA2663914841PER2c.2065+25G>C (n.2065+25G>C)
gnomAD v4
2g.238256898T>CCA2197194PER2c.2065+24A>G (n.2065+24A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.238256898T=CA1338039052PER2c.2065+24A= (n.2065+24A=)
2g.238256899G>ACA540492347PER2c.2065+23C>T (n.2065+23C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.238256899G=CA1338039053PER2c.2065+23C= (n.2065+23C=)
2g.238256900A>TCA2663914842PER2c.2065+22T>A (n.2065+22T>A)
gnomAD v4
2g.238256901T>CCA2197195PER2c.2065+21A>G (n.2065+21A>G)
dbSNP ExAC gnomAD v2
2g.238256901T=CA1338039054PER2c.2065+21A= (n.2065+21A=)
2g.238256903C>ACA2663914843PER2c.2065+19G>T (n.2065+19G>T)
gnomAD v4
2g.238256903C=CA1338039055PER2c.2065+19G= (n.2065+19G=)
2g.238256903C>TCA2197196PER2c.2065+19G>A (n.2065+19G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.238256904A>GCA2663914844PER2c.2065+18T>C (n.2065+18T>C)
gnomAD v4
2g.238256905A=CA1338039056PER2c.2065+17T= (n.2065+17T=)
2g.238256905A>TCA1338039057PER2c.2065+17T>A (n.2065+17T>A)
dbSNP
2g.238256906G>CCA2577294917PER2c.2065+16C>G (n.2065+16C>G)
2g.238256907A>GCA2663914845PER2c.2065+15T>C (n.2065+15T>C)
gnomAD v4
2g.238256908G>ACA2577294918PER2c.2065+14C>T (n.2065+14C>T)
2g.238256908G=CA1338039058PER2c.2065+14C= (n.2065+14C=)
2g.238256908G>TCA2197197PER2c.2065+14C>A (n.2065+14C>A)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.238256909C=CA1338039059PER2c.2065+13G= (n.2065+13G=)
2g.238256909C>GCA1338039060PER2c.2065+13G>C (n.2065+13G>C)
dbSNP gnomAD v4
2g.238256910C>GCA2663914846PER2c.2065+12G>C (n.2065+12G>C)
gnomAD v4
2g.238256910C>TCA2663914847PER2c.2065+12G>A (n.2065+12G>A)
gnomAD v4
2g.238256912A>GCA2663914848PER2c.2065+10T>C (n.2065+10T>C)
dbSNP gnomAD v4
2g.238256913T>CCA2197198PER2c.2065+9A>G (n.2065+9A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.238256913T=CA1338039061PER2c.2065+9A= (n.2065+9A=)
2g.238256914A>GCA2701839423PER2c.2065+8T>C (n.2065+8T>C)
dbSNP
2g.238256914A>TCA431995146PER2c.2065+8T>A (n.2065+8T>A)
2g.238256915G>ACA766681777PER2c.2065+7C>T (n.2065+7C>T)
dbSNP gnomAD v3 gnomAD v4
2g.238256915G>CCA1043876206PER2c.2065+7C>G (n.2065+7C>G)
dbSNP gnomAD v4
2g.238256915G=CA1338039062PER2c.2065+7C= (n.2065+7C=)
2g.238256919T>ACA2663914849PER2c.2065+3A>T (n.2065+3A>T)
gnomAD v4
2g.238256920A>CCA351254133PER2c.2065+2T>G (n.2065+2T>G)
2g.238256920A>GCA351254134PER2c.2065+2T>C (n.2065+2T>C)
2g.238256920A>TCA351254135PER2c.2065+2T>A (n.2065+2T>A)
2g.238256921C>ACA351254136PER2c.2065+1G>T (n.2065+1G>T)
2g.238256921C>GCA351254137PER2c.2065+1G>C (n.2065+1G>C)
2g.238256921C>TCA351254138PER2c.2065+1G>A (n.2065+1G>A)
2g.238256922C>ACA351254139PER2c.2065G>T (p.Glu689Ter)
2g.238256922C>GCA351254140PER2c.2065G>C (p.Glu689Gln)
gnomAD v4
2g.238256922C>TCA351254141PER2c.2065G>A (p.Glu689Lys)
gnomAD v4
2g.238256923T>ACA351254142PER2c.2064A>T (p.Leu688Phe)
2g.238256923T>CCA431995148PER2c.2064A>G (p.Leu688=)
gnomAD v4
2g.238256923T>GCA351254143PER2c.2064A>C (p.Leu688Phe)
2g.238256924A>CCA351254145PER2c.2063T>G (p.Leu688Ter)
2g.238256924A>GCA351254146PER2c.2063T>C (p.Leu688Ser)
2g.238256924A>TCA351254144PER2c.2063T>A (p.Leu688Ter)
2g.238256925A=CA1338039063PER2c.2062T= (p.Leu688=)
2g.238256925A>CCA351254147PER2c.2062T>G (p.Leu688Val)
dbSNP
2g.238256925A>GCA431995150PER2c.2062T>C (p.Leu688=)
2g.238256925A>TCA351254148PER2c.2062T>A (p.Leu688Ile)
2g.238256926C>ACA351254149PER2c.2061G>T (p.Glu687Asp)
2g.238256926C>GCA351254150PER2c.2061G>C (p.Glu687Asp)
2g.238256926C>TCA431995151PER2c.2061G>A (p.Glu687=)
2g.238256927T>ACA351254151PER2c.2060A>T (p.Glu687Val)
2g.238256927T>CCA351254152PER2c.2060A>G (p.Glu687Gly)
dbSNP
2g.238256927T>GCA351254153PER2c.2060A>C (p.Glu687Ala)
2g.238256927T=CA1338039064PER2c.2060A= (p.Glu687=)
2g.238256928C>ACA351254154PER2c.2059G>T (p.Glu687Ter)
2g.238256928C>GCA351254156PER2c.2059G>C (p.Glu687Gln)
2g.238256928C>TCA351254155PER2c.2059G>A (p.Glu687Lys)
2g.238256929C>ACA431995153PER2c.2058G>T (p.Pro686=)
2g.238256929C=CA1338039066PER2c.2058G= (p.Pro686=)
2g.238256929C>GCA431995152PER2c.2058G>C (p.Pro686=)
dbSNP gnomAD v2 gnomAD v4
2g.238256929C>TCA2197199PER2c.2058G>A (p.Pro686=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.238256930G>ACA2197200PER2c.2057C>T (p.Pro686Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.238256930G>CCA351254157PER2c.2057C>G (p.Pro686Arg)
2g.238256930G=CA1338039068PER2c.2057C= (p.Pro686=)
2g.238256930G>TCA351254158PER2c.2057C>A (p.Pro686Gln)
2g.238256931G>ACA351254159PER2c.2056C>T (p.Pro686Ser)
2g.238256931G>CCA351254161PER2c.2056C>G (p.Pro686Ala)
2g.238256931G>TCA351254160PER2c.2056C>A (p.Pro686Thr)
2g.238256932C>ACA351254162PER2c.2055G>T (p.Gln685His)
2g.238256932C>GCA351254163PER2c.2055G>C (p.Gln685His)
2g.238256932C>TCA431995154PER2c.2055G>A (p.Gln685=)
2g.238256933T>ACA351254164PER2c.2054A>T (p.Gln685Leu)
2g.238256933T>CCA351254165PER2c.2054A>G (p.Gln685Arg)
2g.238256933T>GCA351254166PER2c.2054A>C (p.Gln685Pro)
2g.238256934G>ACA351254167PER2c.2053C>T (p.Gln685Ter)
gnomAD v4
2g.238256934G>CCA351254168PER2c.2053C>G (p.Gln685Glu)
gnomAD v4
2g.238256934G>TCA351254169PER2c.2053C>A (p.Gln685Lys)
2g.238256935C>ACA431995156PER2c.2052G>T (p.Pro684=)
gnomAD v4
2g.238256935C=CA1338039070PER2c.2052G= (p.Pro684=)
2g.238256935C>GCA431995157PER2c.2052G>C (p.Pro684=)
2g.238256935C>TCA2197201PER2c.2052G>A (p.Pro684=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.238256936G>ACA2197202PER2c.2051C>T (p.Pro684Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.238256936G>CCA351254170PER2c.2051C>G (p.Pro684Arg)
2g.238256936G=CA1338039073PER2c.2051C= (p.Pro684=)
2g.238256936G>TCA351254171PER2c.2051C>A (p.Pro684Gln)
2g.238256937G>ACA351254174PER2c.2050C>T (p.Pro684Ser)
2g.238256937G>CCA351254172PER2c.2050C>G (p.Pro684Ala)
2g.238256937G>TCA351254173PER2c.2050C>A (p.Pro684Thr)
2g.238256938C>ACA351254175PER2c.2049G>T (p.Lys683Asn)
2g.238256938C>GCA351254176PER2c.2049G>C (p.Lys683Asn)
2g.238256938C>TCA431995158PER2c.2049G>A (p.Lys683=)

Number of alleles fetched